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FAM120C family with sequence similarity 120 member C [ Homo sapiens (human) ]

Gene ID: 54954, updated on 5-Mar-2024

Summary

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Official Symbol
FAM120Cprovided by HGNC
Official Full Name
family with sequence similarity 120 member Cprovided by HGNC
Primary source
HGNC:HGNC:16949
See related
Ensembl:ENSG00000184083 MIM:300741; AllianceGenome:HGNC:16949
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
ORF34; CXorf17
Summary
This gene encodes a potential transmembrane protein and lies in a region where mutations and deletions have been associated with intellectual disability and autism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Expression
Ubiquitous expression in brain (RPKM 3.7), ovary (RPKM 1.9) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
Xp11.22
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (54068324..54183254, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (53358212..53473143, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (54094757..54209687, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 505 Neighboring gene Sharpr-MPRA regulatory region 5322 Neighboring gene PHD finger protein 8 Neighboring gene MPRA-validated peak7381 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20860 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29669 Neighboring gene Sharpr-MPRA regulatory region 9958 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:54091510-54091662 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:54154862-54155382 Neighboring gene ribosomal protein L37 pseudogene 24 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20861 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20862 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20863 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:54242133-54242784 Neighboring gene WNK lysine deficient protein kinase 3 Neighboring gene ribosomal protein L7a pseudogene 71 Neighboring gene MPRA-validated peak7382 silencer Neighboring gene RNA, U6 small nuclear 434, pseudogene

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. A complex Xp11.22 deletion in a patient with syndromic autism: exploration of FAM120C as a positional candidate gene for autism. De Wolf V, et al. Am J Med Genet A, 2014 Dec. PMID 25258334
  2. Autism-associated familial microdeletion of Xp11.22. Qiao Y, et al. Clin Genet, 2008 Aug. PMID 18498374
  3. The human gene CXorf17 encodes a member of a novel family of putative transmembrane proteins: cDNA cloning and characterization of CXorf17 and its mouse ortholog orf34. Holden S, et al. Gene, 2003 Oct 30. PMID 14585507
  4. The MYO6 interactome reveals adaptor complexes coordinating early endosome and cytoskeletal dynamics. O'Loughlin T, et al. EMBO Rep, 2018 Apr. PMID 29467281, Free PMC Article
  5. Human ISG15 conjugation targets both IFN-induced and constitutively expressed proteins functioning in diverse cellular pathways. Zhao C, et al. Proc Natl Acad Sci U S A, 2005 Jul 19. PMID 16009940, Free PMC Article

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. FAM120C is a novel candidate gene for autism spectrum disorder based on genetic evidence and the brain expression pattern.
    Title: A complex Xp11.22 deletion in a patient with syndromic autism: exploration of FAM120C as a positional candidate gene for autism.
  2. Xp11.22 deletion including genes PHF8, FAM120C and WNK3 may be involved in the pathogenesis of autism.
    Title: Autism-associated familial microdeletion of Xp11.22.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Autism-associated familial microdeletion of Xp11.22.
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

  • FLJ20506, FLJ43676

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
constitutive coactivator of PPAR-gamma-like protein 2
Names
family with sequence similarity 120C
tumor antigen BJ-HCC-21

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_021316.2 RefSeqGene

    Range
    5028..119958
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001300788.2 → NP_001287717.1  constitutive coactivator of PPAR-gamma-like protein 2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two exons in the 3' coding region which results in a frameshift compared to variant 1. The encoded isoform (3) is shorter than and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL589872, BC144081, BQ270974
    Consensus CDS
    CCDS75987.1
    UniProtKB/TrEMBL
    F8W881
    Related
    ENSP00000329896.4, ENST00000328235.4

  2. NM_017848.6 → NP_060318.4  constitutive coactivator of PPAR-gamma-like protein 2 isoform 1

    See identical proteins and their annotated locations for NP_060318.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL589872, AY150025, BC136413, BX956082
    Consensus CDS
    CCDS14356.1
    UniProtKB/Swiss-Prot
    B2RMT7, Q9NX05
    Related
    ENSP00000364324.2, ENST00000375180.7

  3. NM_198456.3 → NP_940858.2  constitutive coactivator of PPAR-gamma-like protein 2 isoform 2

    See identical proteins and their annotated locations for NP_940858.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    BC016138
    Consensus CDS
    CCDS55421.1
    UniProtKB/Swiss-Prot
    Q9NX05
    Related
    ENSP00000420718.1, ENST00000477084.1

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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    54068324..54183254 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724589.5 → XP_006724652.1  constitutive coactivator of PPAR-gamma-like protein 2 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    53358212..53473143 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327339.1 → XP_054183314.1  constitutive coactivator of PPAR-gamma-like protein 2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NX05.4 GenPept UniProtKB/Swiss-Prot:Q9NX05

Gene LinkOut

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