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

    Gene ID: 54954, updated on 3-Nov-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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    See FAM120C in Genome Data Viewer
    Location:
    Xp11.22
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (54068324..54183254, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (53358212..53473143, complement)
    RS_2024_09 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 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 (41) 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_2024_08

    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

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

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