U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    PGAP2 post-GPI attachment to proteins 2 [ Homo sapiens (human) ]

    Gene ID: 27315, updated on 3-Dec-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    PGAP2provided by HGNC
    Official Full Name
    post-GPI attachment to proteins 2provided by HGNC
    Primary source
    HGNC:HGNC:17893
    See related
    Ensembl:ENSG00000148985 MIM:615187; AllianceGenome:HGNC:17893
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FRAG1; MRT17; MRT21; HPMRS3; CWH43-N
    Summary
    The protein encoded by this gene plays a role in the maturation of glycosylphosphatidylinositol (GPI) anchors on GPI-anchored proteins. Mutations in this gene are associated with an autosomal recessive syndrome characterized by hyperphosphatasia and intellectual disability. [provided by RefSeq, Jul 2017]
    Expression
    Ubiquitous expression in skin (RPKM 10.4), testis (RPKM 5.4) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See PGAP2 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (3797724..3826371)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (3863061..3891698)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (3818954..3847601)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene nucleoporin 98 and 96 precursor Neighboring gene RNA, U6 small nuclear 1143, pseudogene Neighboring gene nucleoporin 98kDa recombination region Neighboring gene MPRA-validated peak1178 silencer Neighboring gene MPRA-validated peak1179 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3811721-3812640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3812641-3813558 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3082 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3083 Neighboring gene RNA, U7 small nuclear 50 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3084 Neighboring gene uncharacterized LOC124902618 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:3841189-3841380 Neighboring gene uncharacterized LOC124902619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4310 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3085 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3087 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4311 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3876149-3877094 Neighboring gene STIM1 antisense RNA 1 Neighboring gene ras homolog family member G Neighboring gene stromal interaction molecule 1

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Hansen L, et al. Am J Hum Genet, 2013 Apr 4. PMID 23561846, Free PMC Article
    2. Human FRAG1 encodes a novel membrane-spanning protein that localizes to chromosome 11p15.5, a region of frequent loss of heterozygosity in cancer. Lorenzi MV, et al. Genomics, 1999 Nov 15. PMID 10585768
    3. A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder. Thompson MD, et al. Eur J Med Genet, 2020 Apr. PMID 31805394
    4. A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers. Perez Y, et al. Biomed Res Int, 2017. PMID 29119105, Free PMC Article
    5. Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes. Jezela-Stanek A, et al. Eur J Paediatr Neurol, 2016 May. PMID 26879448

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder.
      Title: A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder.
    2. A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers.
      Title: A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers.
    3. PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.
      Title: PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.
    4. Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
      Title: Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
    Submit: New GeneRIF Correction

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hyperphosphatasia with intellectual disability syndrome 3
    MedGen: C3280153 OMIM: 614207 GeneReviews: Not available
    		Compare labs

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

    Go to the top of the page Help

    Replication interactions

    Interaction Pubs
    Knockdown of post-GPI attachment to proteins 2 (PGAP2) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • MGC799, FLJ26520

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in GPI anchor biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in GPI anchor biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in GPI anchor biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

    Go to the top of the page Help
    Preferred Names
    post-GPI attachment to proteins factor 2
    Names
    FGF receptor activating protein 1
    cell wall biogenesis 43 N-terminal homolog

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_051812.1 RefSeqGene

      Range
      5001..33648
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145438.2 → NP_001138910.1  post-GPI attachment to proteins factor 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region, lacks an alternate in-frame exon in the central coding region, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) has a distinct and longer N-terminus but is overall shorter than isoform 1.
      Source sequence(s)
      AF159615, AL096753, BC009930, DA287291
      Consensus CDS
      CCDS44523.1
      UniProtKB/Swiss-Prot
      Q9UHJ9
      Related
      ENSP00000300730.6, ENST00000300730.10
      Conserved Domains (1) summary
      pfam10277
      Location:75 → 294
      Frag1; Frag1/DRAM/Sfk1 family

    2. NM_001256235.1 → NP_001243164.1  post-GPI attachment to proteins factor 2 isoform 3

      See identical proteins and their annotated locations for NP_001243164.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AF159615, AL096753
      Consensus CDS
      CCDS73245.1
      UniProtKB/TrEMBL
      A0A0A0MS75
      Related
      ENSP00000380188.3, ENST00000396991.6
      Conserved Domains (1) summary
      pfam10277
      Location:75 → 259
      Frag1; Frag1/DRAM/Sfk1 family

    3. NM_001256236.1 → NP_001243165.1  post-GPI attachment to proteins factor 2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is longer than isoform 1.
      Source sequence(s)
      AF159615, AK292181, AL096753, DA287291
      UniProtKB/Swiss-Prot
      Q9UHJ9
      Conserved Domains (1) summary
      pfam10277
      Location:136 → 359
      Frag1; Frag1/DRAM/Sfk1 family

    4. NM_001256237.1 → NP_001243166.1  post-GPI attachment to proteins factor 2 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) contains alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region, lacks an alternate in-frame exon in the central coding region, and uses an alternate splice site that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (5) has distinct N- and C-termini and is shorter than isoform 1.
      Source sequence(s)
      AF159615, AL096753, BG707484, BI772237, DA287291
      UniProtKB/Swiss-Prot
      Q9UHJ9
      Conserved Domains (1) summary
      pfam10277
      Location:75 → 235
      Frag1; Frag1/DRAM/Sfk1 family

    5. NM_001256238.1 → NP_001243167.1  post-GPI attachment to proteins factor 2 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) differs in the 5' UTR, lacks an alternate in-frame exon in the 5' coding region, and uses an alternate splice site that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (6) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AF159615, AK295202, AL096753, BX379511
      Consensus CDS
      CCDS58113.1
      UniProtKB/TrEMBL
      H0YDJ5
      Related
      ENSP00000431851.1, ENST00000493547.6
      Conserved Domains (1) summary
      pfam10277
      Location:18 → 178
      Frag1; Frag1/DRAM/Sfk1 family

    6. NM_001256239.2 → NP_001243168.1  post-GPI attachment to proteins factor 2 isoform 7

      See identical proteins and their annotated locations for NP_001243168.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) lacks an alternate in-frame exon in the 5' coding region, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (7) is shorter than isoform 1. Variants 11 and 27 both encode the same isoform (7).
      Source sequence(s)
      AF159615, AL096753, BI911028, BX340489, CB988453
      UniProtKB/TrEMBL
      A0A0S2Z568, E9PQ19
      Related
      ENSP00000434507.1, ENST00000469307.4
      Conserved Domains (1) summary
      pfam10277
      Location:18 → 237
      Frag1; Frag1/DRAM/Sfk1 family

    7. NM_001256240.2 → NP_001243169.1  post-GPI attachment to proteins factor 2 isoform 8

      See identical proteins and their annotated locations for NP_001243169.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (8) that is shorter than isoform 1. Variants 12, 24, and 32 all encode the same isoform (8).
      Source sequence(s)
      AF159615, AL096753, BI768071, CB988453
      Consensus CDS
      CCDS58112.1
      UniProtKB/Swiss-Prot
      E9PJG5, H7BXL9, Q6UC77, Q96G66, Q9UF01, Q9UHJ9, Q9Y4N1
      UniProtKB/TrEMBL
      A0A024RCD5, E9PQ19
      Related
      ENSP00000435223.1, ENST00000463452.6
      Conserved Domains (1) summary
      pfam10277
      Location:18 → 241
      Frag1; Frag1/DRAM/Sfk1 family

    8. NM_001283038.1 → NP_001269967.1  post-GPI attachment to proteins factor 2 isoform 9

      Status: REVIEWED

      Description
      Transcript Variant: This variant (17) contains an alternate 5' exon structure, and thus differs in the 5' UTR and 5' coding region, and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (9) has a longer N-terminus but is overall shorter than isoform 1.
      Source sequence(s)
      AF159615, AL096753, BX356273, DA287291
      Consensus CDS
      CCDS73244.1
      UniProtKB/TrEMBL
      A8MYS5
      Related
      ENSP00000380183.2, ENST00000396986.6
      Conserved Domains (1) summary
      pfam10277
      Location:75 → 298
      Frag1; Frag1/DRAM/Sfk1 family

    9. NM_001283039.1 → NP_001269968.1  post-GPI attachment to proteins factor 2 isoform 10

      Status: REVIEWED

      Description
      Transcript Variant: This variant (18) uses an alternate exon structure in the 5' region compared to variant 1. The encoded isoform (10) is distinct and shorter, compared to isoform 1, but it shares regions in common with isoforms 5 and 7.
      Source sequence(s)
      AF159615, AK295202, AL096753, BX448155, CD675009, DA287291
      UniProtKB/Swiss-Prot
      Q9UHJ9
      UniProtKB/TrEMBL
      B7Z2X5

    10. NM_001283040.1 → NP_001269969.1  post-GPI attachment to proteins factor 2 isoform 11

      Status: REVIEWED

      Description
      Transcript Variant: This variant (19) uses an alternate exon structure in the 5' region compared to variant 1. The encoded isoform (11) is distinct and shorter, compared to isoform 1, but it shares regions in common with isoforms 5 and 7.
      Source sequence(s)
      AC090587, AF159615, AL096753, DA287291, HY171112
      UniProtKB/Swiss-Prot
      Q9UHJ9

    11. NM_001346397.2 → NP_001333326.1  post-GPI attachment to proteins factor 2 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC090587
      UniProtKB/TrEMBL
      E9PQ19

    12. NM_001346398.2 → NP_001333327.1  post-GPI attachment to proteins factor 2 isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (24), as well as variants 12 and 32, encodes isoform 8.
      Source sequence(s)
      AC090587
      Consensus CDS
      CCDS58112.1
      UniProtKB/Swiss-Prot
      E9PJG5, H7BXL9, Q6UC77, Q96G66, Q9UF01, Q9UHJ9, Q9Y4N1
      UniProtKB/TrEMBL
      A0A024RCD5, E9PQ19
      Conserved Domains (1) summary
      pfam10277
      Location:18 → 241
      Frag1; Frag1/DRAM/Sfk1 family

    13. NM_001346399.2 → NP_001333328.1  post-GPI attachment to proteins factor 2 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC090587
      Consensus CDS
      CCDS86172.1
      UniProtKB/TrEMBL
      B7Z2X5, H0YDC6
      Related
      ENSP00000433377.2, ENST00000532523.5

    14. NM_001346400.2 → NP_001333329.1  post-GPI attachment to proteins factor 2 isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (27), as well as variant 11, encodes isoform 7.
      Source sequence(s)
      AC090587
      UniProtKB/TrEMBL
      A0A0S2Z568, E9PQ19
      Conserved Domains (1) summary
      pfam10277
      Location:18 → 237
      Frag1; Frag1/DRAM/Sfk1 family

    15. NM_001346401.2 → NP_001333330.1  post-GPI attachment to proteins factor 2 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC090587
      UniProtKB/TrEMBL
      H0YDC6

    16. NM_001346402.2 → NP_001333331.1  post-GPI attachment to proteins factor 2 isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC090587

    17. NM_001346403.1 → NP_001333332.1  post-GPI attachment to proteins factor 2 isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC090587

    18. NM_001346404.1 → NP_001333333.1  post-GPI attachment to proteins factor 2 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC090587
      Consensus CDS
      CCDS86171.1
      UniProtKB/TrEMBL
      H0YDJ5, H0YDQ4
      Related
      ENSP00000434088.2, ENST00000464261.5

    19. NM_001346405.1 → NP_001333334.1  post-GPI attachment to proteins factor 2 isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (32), as well as variants 12 and 24, encodes isoform 8.
      Source sequence(s)
      AC090587
      Consensus CDS
      CCDS58112.1
      UniProtKB/Swiss-Prot
      E9PJG5, H7BXL9, Q6UC77, Q96G66, Q9UF01, Q9UHJ9, Q9Y4N1
      UniProtKB/TrEMBL
      A0A024RCD5, E9PQ19
      Conserved Domains (1) summary
      pfam10277
      Location:18 → 241
      Frag1; Frag1/DRAM/Sfk1 family

    20. NM_014489.4 → NP_055304.1  post-GPI attachment to proteins factor 2 isoform 1

      See identical proteins and their annotated locations for NP_055304.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AF159615, AL096753
      Consensus CDS
      CCDS7747.1
      Related
      ENSP00000278243.4, ENST00000278243.9
      Conserved Domains (1) summary
      pfam10277
      Location:79 → 302
      Frag1; Frag1/DRAM/Sfk1 family

    RNA

    1. NR_027016.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a significant portion of the coding region, including the translational start codon, as found in variant 1.
      Source sequence(s)
      AF159615, AL096753, CB988453, CX872317
      Related
      ENST00000496834.6

    2. NR_027017.4 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) uses alternate exon structure in both the 5' and 3' regions, compared to variant 1. This variant is represented as non-coding because translation of the predicted in-frame ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC090587

    3. NR_027018.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) uses alternate exon structure in both the 5' and central regions, compared to variant 1. This variant is represented as non-coding because it lacks a significant portion of the coding region, including the translational start codon, as found in variant 1.
      Source sequence(s)
      AF159615, AK295202, AL096753

    4. NR_045923.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses alternate exon structure in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF159615, AK307359, AL096753, DA287291
      Related
      ENST00000396993.8

    5. NR_045925.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) uses alternate exon structure in both the 5' and 3' regions, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF159615, AL096753, BG468212, DA287291

    6. NR_045926.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14) uses alternate exon structure in the 5' region, and lacks two exons in the central region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF159615, AL096753, AL558360, DA287291
      Related
      ENST00000477358.6

    7. NR_045927.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15) uses alternate exon structure in the 5', central and 3' regions, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF159615, AL096753, BG707484, DA287291

    8. NR_045929.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16) uses alternate exon structure in the 5', central and 3' regions, compared to variant 1. This variant is represented as non-coding because it lacks a significant portion of the coding region, including the translational start codon, as found in variant 1.
      Source sequence(s)
      AF159615, AL096753, BI759334, CB988453

    9. NR_104270.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (20) uses an alternate exon structure in the 5' and central regions and an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF159615, AL096753, CD675113, DA287291

    10. NR_104271.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (21) uses an alternate exon structure in the 5' and central regions and an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF159615, AL096753, BI858175, BI911526, DA287291
      Related
      ENST00000528216.5

    11. NR_104272.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (22) lacks two alternate internal exons and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AF159615, AL096753, CB988453

    12. NR_144427.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090587

    13. NR_144428.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090587

    14. NR_144429.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090587

    15. NR_144430.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090587

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      3797724..3826371
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011519992.2 → XP_011518294.1  post-GPI attachment to proteins factor 2 isoform X3

      Conserved Domains (1) summary
      pfam10277
      Location:174 → 358
      Frag1; Frag1/DRAM/Sfk1 family

    2. XM_047426778.1 → XP_047282734.1  post-GPI attachment to proteins factor 2 isoform X6

    3. XM_011519996.2 → XP_011518298.1  post-GPI attachment to proteins factor 2 isoform X8

      Conserved Domains (1) summary
      pfam10277
      Location:158 → 342
      Frag1; Frag1/DRAM/Sfk1 family

    4. XM_047426777.1 → XP_047282733.1  post-GPI attachment to proteins factor 2 isoform X5

    5. XM_047426780.1 → XP_047282736.1  post-GPI attachment to proteins factor 2 isoform X10

    6. XM_047426786.1 → XP_047282742.1  post-GPI attachment to proteins factor 2 isoform X19

      UniProtKB/TrEMBL
      E9PQ19

    7. XM_006718185.3 → XP_006718248.1  post-GPI attachment to proteins factor 2 isoform X14

      Conserved Domains (1) summary
      pfam10277
      Location:84 → 268
      Frag1; Frag1/DRAM/Sfk1 family

    8. XM_047426782.1 → XP_047282738.1  post-GPI attachment to proteins factor 2 isoform X15

    9. XM_047426784.1 → XP_047282740.1  post-GPI attachment to proteins factor 2 isoform X17

    10. XM_047426785.1 → XP_047282741.1  post-GPI attachment to proteins factor 2 isoform X18

    11. XM_047426789.1 → XP_047282745.1  post-GPI attachment to proteins factor 2 isoform X21

      UniProtKB/TrEMBL
      B7Z2X5, H0YDC6
      Related
      ENSP00000434401.1, ENST00000465307.6

    12. XM_047426792.1 → XP_047282748.1  post-GPI attachment to proteins factor 2 isoform X22

      UniProtKB/TrEMBL
      H0YDC6

    13. XM_011519998.3 → XP_011518300.1  post-GPI attachment to proteins factor 2 isoform X9

      See identical proteins and their annotated locations for XP_011518300.1

      Conserved Domains (1) summary
      pfam10277
      Location:152 → 336
      Frag1; Frag1/DRAM/Sfk1 family

    14. XM_011520004.3 → XP_011518306.2  post-GPI attachment to proteins factor 2 isoform X13

    15. XM_047426788.1 → XP_047282744.1  post-GPI attachment to proteins factor 2 isoform X20

    16. XM_047426793.1 → XP_047282749.1  post-GPI attachment to proteins factor 2 isoform X23

    17. XM_011519999.2 → XP_011518301.1  post-GPI attachment to proteins factor 2 isoform X9

      See identical proteins and their annotated locations for XP_011518301.1

      Conserved Domains (1) summary
      pfam10277
      Location:152 → 336
      Frag1; Frag1/DRAM/Sfk1 family

    18. XM_011519990.3 → XP_011518292.3  post-GPI attachment to proteins factor 2 isoform X1

      Related
      ENSP00000434631.2, ENST00000464906.6

    19. XM_011519991.3 → XP_011518293.3  post-GPI attachment to proteins factor 2 isoform X2

    20. XM_024448444.2 → XP_024304212.1  post-GPI attachment to proteins factor 2 isoform X16

      Conserved Domains (1) summary
      pfam10277
      Location:75 → 255
      Frag1; Frag1/DRAM/Sfk1 family

    21. XM_011520002.2 → XP_011518304.1  post-GPI attachment to proteins factor 2 isoform X11

      See identical proteins and their annotated locations for XP_011518304.1

      UniProtKB/TrEMBL
      A0A0S2Z568, E9PQ19
      Conserved Domains (1) summary
      pfam10277
      Location:18 → 237
      Frag1; Frag1/DRAM/Sfk1 family

    22. XM_047426779.1 → XP_047282735.1  post-GPI attachment to proteins factor 2 isoform X7

    23. XM_047426787.1 → XP_047282743.1  post-GPI attachment to proteins factor 2 isoform X19

      UniProtKB/TrEMBL
      E9PQ19

    24. XM_047426776.1 → XP_047282732.1  post-GPI attachment to proteins factor 2 isoform X4

    25. XM_047426781.1 → XP_047282737.1  post-GPI attachment to proteins factor 2 isoform X2

    26. XM_024448443.2 → XP_024304211.1  post-GPI attachment to proteins factor 2 isoform X16

      Conserved Domains (1) summary
      pfam10277
      Location:75 → 255
      Frag1; Frag1/DRAM/Sfk1 family

    27. XM_047426790.1 → XP_047282746.1  post-GPI attachment to proteins factor 2 isoform X21

      UniProtKB/TrEMBL
      B7Z2X5, H0YDC6

    28. XM_006718181.4 → XP_006718244.1  post-GPI attachment to proteins factor 2 isoform X12

      Conserved Domains (1) summary
      pfam10277
      Location:80 → 303
      Frag1; Frag1/DRAM/Sfk1 family

    29. XM_047426783.1 → XP_047282739.1  post-GPI attachment to proteins factor 2 isoform X7

    30. XM_047426791.1 → XP_047282747.1  post-GPI attachment to proteins factor 2 isoform X21

      UniProtKB/TrEMBL
      B7Z2X5, H0YDC6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      3863061..3891698
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368437.1 → XP_054224412.1  post-GPI attachment to proteins factor 2 isoform X3

    2. XM_054368440.1 → XP_054224415.1  post-GPI attachment to proteins factor 2 isoform X6

    3. XM_054368442.1 → XP_054224417.1  post-GPI attachment to proteins factor 2 isoform X8

    4. XM_054368439.1 → XP_054224414.1  post-GPI attachment to proteins factor 2 isoform X5

    5. XM_054368445.1 → XP_054224420.1  post-GPI attachment to proteins factor 2 isoform X10

    6. XM_054368456.1 → XP_054224431.1  post-GPI attachment to proteins factor 2 isoform X19

      UniProtKB/TrEMBL
      E9PQ19

    7. XM_054368450.1 → XP_054224425.1  post-GPI attachment to proteins factor 2 isoform X14

    8. XM_054368451.1 → XP_054224426.1  post-GPI attachment to proteins factor 2 isoform X15

    9. XM_054368454.1 → XP_054224429.1  post-GPI attachment to proteins factor 2 isoform X17

    10. XM_054368455.1 → XP_054224430.1  post-GPI attachment to proteins factor 2 isoform X18

    11. XM_054368459.1 → XP_054224434.1  post-GPI attachment to proteins factor 2 isoform X21

      UniProtKB/TrEMBL
      B7Z2X5, H0YDC6

    12. XM_054368461.1 → XP_054224436.1  post-GPI attachment to proteins factor 2 isoform X22

      UniProtKB/TrEMBL
      H0YDC6

    13. XM_054368443.1 → XP_054224418.1  post-GPI attachment to proteins factor 2 isoform X9

    14. XM_054368448.1 → XP_054224423.1  post-GPI attachment to proteins factor 2 isoform X13

    15. XM_054368458.1 → XP_054224433.1  post-GPI attachment to proteins factor 2 isoform X20

    16. XM_054368462.1 → XP_054224437.1  post-GPI attachment to proteins factor 2 isoform X23

    17. XM_054368444.1 → XP_054224419.1  post-GPI attachment to proteins factor 2 isoform X9

    18. XM_054368435.1 → XP_054224410.1  post-GPI attachment to proteins factor 2 isoform X1

    19. XM_054368436.1 → XP_054224411.1  post-GPI attachment to proteins factor 2 isoform X2

    20. XM_054368453.1 → XP_054224428.1  post-GPI attachment to proteins factor 2 isoform X16

    21. XM_054368446.1 → XP_054224421.1  post-GPI attachment to proteins factor 2 isoform X11

      UniProtKB/TrEMBL
      A0A0S2Z568, E9PQ19

    22. XM_054368441.1 → XP_054224416.1  post-GPI attachment to proteins factor 2 isoform X7

    23. XM_054368457.1 → XP_054224432.1  post-GPI attachment to proteins factor 2 isoform X19

      UniProtKB/TrEMBL
      E9PQ19

    24. XM_054368438.1 → XP_054224413.1  post-GPI attachment to proteins factor 2 isoform X4

    25. XM_054368449.1 → XP_054224424.1  post-GPI attachment to proteins factor 2 isoform X2

    26. XM_054368452.1 → XP_054224427.1  post-GPI attachment to proteins factor 2 isoform X16

    27. XM_054368460.1 → XP_054224435.1  post-GPI attachment to proteins factor 2 isoform X21

      UniProtKB/TrEMBL
      B7Z2X5, H0YDC6

    28. XM_054368447.1 → XP_054224422.1  post-GPI attachment to proteins factor 2 isoform X12

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UHJ9.2 GenPept UniProtKB/Swiss-Prot:Q9UHJ9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools