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    SHISAL2A shisa like 2A [ Homo sapiens (human) ]

    Gene ID: 348378, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SHISAL2Aprovided by HGNC
    Official Full Name
    shisa like 2Aprovided by HGNC
    Primary source
    HGNC:HGNC:28757
    See related
    Ensembl:ENSG00000182183 MIM:620218; AllianceGenome:HGNC:28757
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FAM159A; PRO7171; WWLS2783
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in lymph node (RPKM 1.5), spleen (RPKM 0.8) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SHISAL2A in Genome Data Viewer
    Location:
    1p32.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (52632788..52669683)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (52514310..52551222)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (53098840..53135355)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene eukaryotic translation elongation factor 1 gamma pseudogene 7 Neighboring gene glutathione peroxidase 7 Neighboring gene uncharacterized LOC124904178 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 895 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1035 Neighboring gene Sharpr-MPRA regulatory region 2435 Neighboring gene Sharpr-MPRA regulatory region 753 Neighboring gene Sharpr-MPRA regulatory region 13275 Neighboring gene MPRA-validated peak230 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1036 Neighboring gene cytochrome c oxidase assembly factor 7 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:53168550-53169091 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:53169092-53169632 Neighboring gene NADH:ubiquinone oxidoreductase subunit S5 pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Unexpected diversity in Shisa-like proteins suggests the importance of their roles as transmembrane adaptors. Pei J, et al. Cell Signal, 2012 Mar. PMID 22120523, Free PMC Article
    2. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013
    3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
    4. RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation. Wu SF, et al. Proc Natl Acad Sci U S A, 2020 Jun 23. PMID 32513696, Free PMC Article
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC52498

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein shisa-like-2A
    Names
    family with sequence similarity 159 member A
    membrane protein FAM159A

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001042693.3 → NP_001036158.1  protein shisa-like-2A

      See identical proteins and their annotated locations for NP_001036158.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the supported protein.
      Source sequence(s)
      AK128236, AL356976, AY358621, BG192125
      Consensus CDS
      CCDS41336.1
      UniProtKB/Swiss-Prot
      Q6UWV7, Q6ZRG4
      Related
      ENSP00000429726.1, ENST00000517870.2

    RNA

    1. NR_135156.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an additional internal exon and a different 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC099784, AJ573663, AK128236, AL356976, BC041608
      Related
      ENST00000401050.7

    2. NR_135157.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate 3' exon structue, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK128236, AL356976, BC041608
      Related
      ENST00000440303.5

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      52632788..52669683
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541378.3 → XP_011539680.1  protein shisa-like-2A isoform X2

    2. XM_011541377.3 → XP_011539679.1  protein shisa-like-2A isoform X1

    RNA

    1. XR_946635.3 RNA Sequence

    2. XR_007059587.1 RNA Sequence

    3. XR_946636.3 RNA Sequence

    4. XR_946637.2 RNA Sequence

    5. XR_946639.3 RNA Sequence

    6. XR_007059593.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      52514310..52551222
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336372.1 → XP_054192347.1  protein shisa-like-2A isoform X2

    2. XM_054336371.1 → XP_054192346.1  protein shisa-like-2A isoform X1

    RNA

    1. XR_008486024.1 RNA Sequence

    2. XR_008486025.1 RNA Sequence

    3. XR_008486026.1 RNA Sequence

    4. XR_008486027.1 RNA Sequence

    5. XR_008486028.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UWV7.2 GenPept UniProtKB/Swiss-Prot:Q6UWV7

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