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

Gene ID: 200232, updated on 14-Nov-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, Nov 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: HPA RNA-seq normal tissues 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. 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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