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    FAM43A family with sequence similarity 43 member A [ Homo sapiens (human) ]

    Gene ID: 131583, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FAM43Aprovided by HGNC
    Official Full Name
    family with sequence similarity 43 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:26888
    See related
    Ensembl:ENSG00000185112 AllianceGenome:HGNC:26888
    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
    Orthologs
    mouse all
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    Genomic context

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    See FAM43A in Genome Data Viewer
    Location:
    3q29
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (194685883..194689037)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (197382461..197385616)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (194406612..194409766)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374291 Neighboring gene transmembrane protein 44 Neighboring gene Sharpr-MPRA regulatory region 9326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:194339883-194340383 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194343378-194343921 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:194356897-194357398 Neighboring gene TMEM44 antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21031 Neighboring gene MPRA-validated peak4980 silencer Neighboring gene large 60S subunit nuclear export GTPase 1 Neighboring gene uncharacterized LOC124909474 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:194395226-194396425 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21033 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194407453-194407958 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194407959-194408462 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21034 Neighboring gene uncharacterized LOC105374292 Neighboring gene long intergenic non-protein coding RNA 1968 Neighboring gene Sharpr-MPRA regulatory region 10974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21035 Neighboring gene Sharpr-MPRA regulatory region 1010 Neighboring gene MPRA-validated peak4981 silencer Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194470908-194471615 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:194471765-194471953 Neighboring gene family with sequence similarity 151 member A pseudogene Neighboring gene long intergenic non-protein coding RNA 1972

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. Robertson NG, et al. Genomics, 1994 Sep 1. PMID 7829101
    2. Large-scale cDNA transfection screening for genes related to cancer development and progression. Wan D, et al. Proc Natl Acad Sci U S A, 2004 Nov 2. PMID 15498874, Free PMC Article
    3. SR protein kinases promote splicing of nonconsensus introns. Lipp JJ, et al. Nat Struct Mol Biol, 2015 Aug. PMID 26167880
    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. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article

    See all (11) 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

    • FLJ90022

    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 FAM43A

    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_153690.5 → NP_710157.2  protein FAM43A

      See identical proteins and their annotated locations for NP_710157.2

      Status: VALIDATED

      Source sequence(s)
      AC046143, AF147314, BC039689, BG107959, BG110772, BI494721, BM561125, BQ009970
      Consensus CDS
      CCDS33923.1
      UniProtKB/Swiss-Prot
      A3KME2, Q8IXP4, Q8N2R8, Q8WZ07
      Related
      ENSP00000371397.1, ENST00000329759.6
      Conserved Domains (1) summary
      pfam14719
      Location:69 → 256
      PID_2; Phosphotyrosine interaction domain (PTB/PID)

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      194685883..194689037
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      197382461..197385616
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N2R8.2 GenPept UniProtKB/Swiss-Prot:Q8N2R8

    Gene LinkOut

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

    Chemical Information
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