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    FAM209A family with sequence similarity 209 member A [ Homo sapiens (human) ]

    Gene ID: 200232, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FAM209Aprovided by HGNC
    Official Full Name
    family with sequence similarity 209 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:16100
    See related
    Ensembl:ENSG00000124103 AllianceGenome:HGNC:16100
    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
    C20orf106; dJ1153D9.3
    Summary
    Predicted to be involved in cell differentiation and spermatogenesis. Located in extracellular exosome and nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 36.8) See more
    Orthologs
    all
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    Genomic context

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    See FAM209A in Genome Data Viewer
    Location:
    20q13.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (56524744..56533590)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (58302238..58311078)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (55099800..55101208)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene Cas scaffold protein family member 4 Neighboring gene ribosomal protein L39 pseudogene Neighboring gene small nucleolar RNA U13 Neighboring gene replication termination factor 2 Neighboring gene MPRA-validated peak4281 silencer Neighboring gene glucosaminyl (N-acetyl) transferase family member 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:55086509-55087317 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:55087318-55088125 Neighboring gene family with sequence similarity 209 member B Neighboring gene uncharacterized LOC124904971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18143 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:55159734-55160366 Neighboring gene long intergenic non-protein coding RNA 1716 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:55170612-55171203

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. FAM209 associates with DPY19L2, and is required for sperm acrosome biogenesis and fertility in mice. Castaneda JM, et al. J Cell Sci, 2021 Nov 1. PMID 34471926, Free PMC Article
    2. Disruption in CYLC1 leads to acrosome detachment, sperm head deformity, and male in/subfertility in humans and mice. Jin HJ, et al. Elife, 2024 Apr 4. PMID 38573307, Free PMC Article
    3. A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. Cai DC, et al. Genes Brain Behav, 2014 Sep. PMID 25130324
    4. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052
    5. Assessment of community efforts to advance network-based prediction of protein-protein interactions. Wang XW, et al. Nat Commun, 2023 Mar 22. PMID 36949045, Free PMC Article

    See all (14) 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

    EBI GWAS Catalog

    Description
    A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
    EBI GWAS Catalog

    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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    Homology

    Clone Names

    • MGC104272

    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 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in nuclear inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    protein FAM209A
    Names
    uncharacterized protein C20orf106

    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_001012971.4 → NP_001012989.2  protein FAM209A precursor

      See identical proteins and their annotated locations for NP_001012989.2

      Status: VALIDATED

      Source sequence(s)
      AL109806
      Consensus CDS
      CCDS33493.1
      UniProtKB/Swiss-Prot
      Q05C43, Q5JX71
      Related
      ENSP00000360379.4, ENST00000371328.5
      Conserved Domains (1) summary
      pfam15206
      Location:20 → 168
      FAM209; FAM209 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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      56524744..56533590
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439965.1 → XP_047295921.1  protein FAM209A isoform X1

      UniProtKB/Swiss-Prot
      Q05C43, Q5JX71

    2. XM_047439964.1 → XP_047295920.1  protein FAM209A isoform X1

      UniProtKB/Swiss-Prot
      Q05C43, Q5JX71

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      58302238..58311078
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323142.1 → XP_054179117.1  protein FAM209A isoform X1

      UniProtKB/Swiss-Prot
      Q05C43, Q5JX71

    2. XM_054323141.1 → XP_054179116.1  protein FAM209A isoform X1

      UniProtKB/Swiss-Prot
      Q05C43, Q5JX71
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5JX71.1 GenPept UniProtKB/Swiss-Prot:Q5JX71

    Gene LinkOut

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