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    FAM217A family with sequence similarity 217 member A [ Homo sapiens (human) ]

    Gene ID: 222826, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FAM217Aprovided by HGNC
    Official Full Name
    family with sequence similarity 217 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:21362
    See related
    Ensembl:ENSG00000145975 AllianceGenome:HGNC:21362
    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
    C6orf146
    Expression
    Restricted expression toward testis (RPKM 7.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM217A in Genome Data Viewer
    Location:
    6p25.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (4068367..4087341, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (3937669..3956636, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (4068601..4079371, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23896 Neighboring gene pre-mRNA processing factor kinase PRP4K Neighboring gene Sharpr-MPRA regulatory region 2502 Neighboring gene uncharacterized LOC124901553 Neighboring gene testis expressed 56, pseudogene Neighboring gene Sharpr-MPRA regulatory region 9692 Neighboring gene enoyl-CoA delta isomerase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16859 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16860 Neighboring gene uncharacterized LOC107986559 Neighboring gene ECI2 divergent transcript

    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. Phospho-tyrosine dependent protein-protein interaction network. Grossmann A, et al. Mol Syst Biol, 2015 Mar 26. PMID 25814554, Free PMC Article
    2. The DNA sequence and analysis of human chromosome 6. Mungall AJ, et al. Nature, 2003 Oct 23. PMID 14574404
    3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    4. UFMylation maintains tumour suppressor p53 stability by antagonizing its ubiquitination. Liu J, et al. Nat Cell Biol, 2020 Sep. PMID 32807901
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (8) 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

    • MGC43581

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein FAM217A
    Names
    uncharacterized protein C6orf146

    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_173563.3 → NP_775834.2  protein FAM217A

      See identical proteins and their annotated locations for NP_775834.2

      Status: VALIDATED

      Source sequence(s)
      AL033383, BC039349
      Consensus CDS
      CCDS4489.1
      UniProtKB/Swiss-Prot
      Q5JYK1, Q8IXS0
      Related
      ENSP00000274673.3, ENST00000274673.8
      Conserved Domains (1) summary
      pfam15344
      Location:203 → 400
      FAM217; FAM217 family

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      4068367..4087341 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514415.2 → XP_011512717.1  protein FAM217A isoform X4

      Related
      ENST00000380188.2
      Conserved Domains (1) summary
      pfam15344
      Location:193 → 390
      FAM217; FAM217 family

    2. XM_017010482.2 → XP_016865971.1  protein FAM217A isoform X1

      Conserved Domains (1) summary
      pfam15344
      Location:140 → 337
      FAM217; FAM217 family

    3. XM_011514414.4 → XP_011512716.1  protein FAM217A isoform X1

      See identical proteins and their annotated locations for XP_011512716.1

      Conserved Domains (1) summary
      pfam15344
      Location:140 → 337
      FAM217; FAM217 family

    4. XM_006715025.4 → XP_006715088.1  protein FAM217A isoform X1

      See identical proteins and their annotated locations for XP_006715088.1

      Conserved Domains (1) summary
      pfam15344
      Location:140 → 337
      FAM217; FAM217 family

    5. XM_011514417.3 → XP_011512719.1  protein FAM217A isoform X6

      Conserved Domains (1) summary
      pfam15344
      Location:155 → 352
      FAM217; FAM217 family

    6. XM_047418385.1 → XP_047274341.1  protein FAM217A isoform X1

    7. XM_005248951.5 → XP_005249008.1  protein FAM217A isoform X3

      Conserved Domains (1) summary
      pfam15344
      Location:194 → 391
      FAM217; FAM217 family

    8. XM_011514416.3 → XP_011512718.1  protein FAM217A isoform X5

      Conserved Domains (1) summary
      pfam15344
      Location:190 → 387
      FAM217; FAM217 family

    9. XM_006715026.4 → XP_006715089.1  protein FAM217A isoform X1

      See identical proteins and their annotated locations for XP_006715089.1

      Conserved Domains (1) summary
      pfam15344
      Location:140 → 337
      FAM217; FAM217 family

    10. XM_017010481.2 → XP_016865970.1  protein FAM217A isoform X3

      Conserved Domains (1) summary
      pfam15344
      Location:194 → 391
      FAM217; FAM217 family

    11. XM_017010480.3 → XP_016865969.1  protein FAM217A isoform X2

      UniProtKB/TrEMBL
      A0A1W2PRP4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      3937669..3956636 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354673.1 → XP_054210648.1  protein FAM217A isoform X4

    2. XM_054354678.1 → XP_054210653.1  protein FAM217A isoform X1

    3. XM_054354669.1 → XP_054210644.1  protein FAM217A isoform X1

    4. XM_054354677.1 → XP_054210652.1  protein FAM217A isoform X1

    5. XM_054354675.1 → XP_054210650.1  protein FAM217A isoform X6

    6. XM_054354668.1 → XP_054210643.1  protein FAM217A isoform X1

    7. XM_054354671.1 → XP_054210646.1  protein FAM217A isoform X3

    8. XM_054354674.1 → XP_054210649.1  protein FAM217A isoform X5

    9. XM_054354676.1 → XP_054210651.1  protein FAM217A isoform X1

    10. XM_054354672.1 → XP_054210647.1  protein FAM217A isoform X3

    11. XM_054354670.1 → XP_054210645.1  protein FAM217A isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IXS0.2 GenPept UniProtKB/Swiss-Prot:Q8IXS0

    Gene LinkOut

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

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