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    FAM204A family with sequence similarity 204 member A [ Homo sapiens (human) ]

    Gene ID: 63877, updated on 3-Apr-2024

    Summary

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    Official Symbol
    FAM204Aprovided by HGNC
    Official Full Name
    family with sequence similarity 204 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:25794
    See related
    Ensembl:ENSG00000165669 AllianceGenome:HGNC:25794
    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
    C10orf84; bA319I23.1
    Expression
    Ubiquitous expression in testis (RPKM 6.9), brain (RPKM 5.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    10q26.11
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (118297925..118342324, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (119192932..119237311, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (120057437..120101836, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene RAB11 family interacting protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2863 Neighboring gene cancer susceptibility 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:119907111-119907355 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:119963650-119964234 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:119964235-119964819 Neighboring gene Sharpr-MPRA regulatory region 3281 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:119973305-119974504 Neighboring gene long intergenic non-protein coding RNA 2944 Neighboring gene NANOG hESC enhancer GRCh37_chr10:120025545-120026208 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:120044911-120045412 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:120045413-120045912 Neighboring gene VISTA enhancer hs672 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:120101641-120102140 Neighboring gene long intergenic non-protein coding RNA 867 Neighboring gene Sharpr-MPRA regulatory region 4791 Neighboring gene uncharacterized LOC105378507

    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. Gene essentiality and synthetic lethality in haploid human cells. Blomen VA, et al. Science, 2015 Nov 27. PMID 26472760
    2. Comparative Host Interactomes of the SARS-CoV-2 Nonstructural Protein 3 and Human Coronavirus Homologs. Almasy KM, et al. Mol Cell Proteomics, 2021. PMID 34186245, Free PMC Article
    3. A Y2H-seq approach defines the human protein methyltransferase interactome. Weimann M, et al. Nat Methods, 2013 Apr. PMID 23455924
    4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. Grupe A, et al. Am J Hum Genet, 2006 Jan. PMID 16385451, Free PMC Article
    5. Transcriptome analysis of human gastric cancer. Oh JH, et al. Mamm Genome, 2005 Dec. PMID 16341674

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13188

    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 FAM204A

    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_001134672.2 → NP_001128144.1  protein FAM204A

      See identical proteins and their annotated locations for NP_001128144.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR when compared to variant 1.
      Source sequence(s)
      AL365498, BC023577, BM837313, DA168924
      Consensus CDS
      CCDS7605.1
      UniProtKB/Swiss-Prot
      D3DRC6, Q5T373, Q9H5V5, Q9H8W3
      UniProtKB/TrEMBL
      Q6IA51
      Related
      ENSP00000358170.4, ENST00000369172.8

    2. NM_022063.3 → NP_071346.1  protein FAM204A

      See identical proteins and their annotated locations for NP_071346.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript.
      Source sequence(s)
      AL365498, BC023577, DA168924
      Consensus CDS
      CCDS7605.1
      UniProtKB/Swiss-Prot
      D3DRC6, Q5T373, Q9H5V5, Q9H8W3
      UniProtKB/TrEMBL
      Q6IA51
      Related
      ENSP00000358183.4, ENST00000369183.9

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      118297925..118342324 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005270024.2 → XP_005270081.1  protein FAM204A isoform X2

      See identical proteins and their annotated locations for XP_005270081.1

      UniProtKB/TrEMBL
      Q6IA51

    2. XM_047425619.1 → XP_047281575.1  protein FAM204A isoform X3

      UniProtKB/Swiss-Prot
      D3DRC6, Q5T373, Q9H5V5, Q9H8W3

    3. XM_047425618.1 → XP_047281574.1  protein FAM204A isoform X1

      UniProtKB/TrEMBL
      F2Z2Y3
      Related
      ENSP00000432701.1, ENST00000470476.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      119192932..119237311 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366526.1 → XP_054222501.1  protein FAM204A isoform X2

    2. XM_054366527.1 → XP_054222502.1  protein FAM204A isoform X3

      UniProtKB/Swiss-Prot
      D3DRC6, Q5T373, Q9H5V5, Q9H8W3

    3. XM_054366525.1 → XP_054222500.1  protein FAM204A isoform X1

      UniProtKB/TrEMBL
      F2Z2Y3
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H8W3.1 GenPept UniProtKB/Swiss-Prot:Q9H8W3

    Gene LinkOut

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

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