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FAM83C family with sequence similarity 83 member C [ Homo sapiens (human) ]

Gene ID: 128876, updated on 5-Mar-2024

Summary

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Official Symbol
FAM83Cprovided by HGNC
Official Full Name
family with sequence similarity 83 member Cprovided by HGNC
Primary source
HGNC:HGNC:16121
See related
Ensembl:ENSG00000125998 AllianceGenome:HGNC:16121
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C20orf128; dJ614O4.7
Summary
This gene encodes a member of the family with sequence similarity 83 protein family. The encoded protein may be involved in regulating MAPK signaling in cancer cells. [provided by RefSeq, Mar 2017]
Expression
Biased expression in skin (RPKM 18.2) and esophagus (RPKM 10.6) See more
Orthologs
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Genomic context

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See FAM83C in Genome Data Viewer
Location:
20q11.22
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (35285731..35292425, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (37006592..37013286, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (33873534..33880228, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene MMP24-AS1-EDEM2 readthrough Neighboring gene matrix metallopeptidase 24 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33863861-33864468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12854 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12856 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33872587-33873137 Neighboring gene FAM83C antisense RNA 1 Neighboring gene MMP24 opposite strand Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33892105-33892925 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:33893217-33894416 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:33899341-33900264 Neighboring gene eukaryotic translation initiation factor 6 Neighboring gene Sharpr-MPRA regulatory region 6334 Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 1 Neighboring gene Sharpr-MPRA regulatory region 14546 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17779 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33999108-33999931 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33999932-34000754 Neighboring gene MPRA-validated peak4201 silencer Neighboring gene GDF5 antisense RNA 1 Neighboring gene growth differentiation factor 5

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. Conserved oncogenic behavior of the FAM83 family regulates MAPK signaling in human cancer. Cipriano R, et al. Mol Cancer Res, 2014 Aug. PMID 24736947, Free PMC Article
  2. The DUF1669 domain of FAM83 family proteins anchor casein kinase 1 isoforms. Fulcher LJ, et al. Sci Signal, 2018 May 22. PMID 29789297, Free PMC Article
  3. An investigation into the human serum "interactome". Zhou M, et al. Electrophoresis, 2004 May. PMID 15174051
  4. New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing. Basei FL, et al. Proteome Sci, 2015. PMID 25798074, Free PMC Article
  5. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052

See all (10) 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)

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

  • MGC142043

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in epidermal growth factor receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
protein FAM83C

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.

Genomic

  1. NG_053068.1 RefSeqGene

    Range
    4998..11692
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_178468.6 → NP_848563.1  protein FAM83C

    See identical proteins and their annotated locations for NP_848563.1

    Status: REVIEWED

    Source sequence(s)
    AK091116, AL121753, BC113483
    Consensus CDS
    CCDS13251.1
    UniProtKB/Swiss-Prot
    Q14D67, Q5JWN6, Q8N276, Q9BQN1
    Related
    ENSP00000363529.3, ENST00000374408.4
    Conserved Domains (1) summary
    cd09183
    Location:34 → 304
    PLDc_FAM83C_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83C

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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    35285731..35292425 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047439892.1 → XP_047295848.1  protein FAM83C isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    37006592..37013286 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322983.1 → XP_054178958.1  protein FAM83C isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BQN1.3 GenPept UniProtKB/Swiss-Prot:Q9BQN1

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