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

Gene ID: 54954, updated on 5-Sep-2021

Summary

Official Symbol
FAM120Cprovided by HGNC
Official Full Name
family with sequence similarity 120Cprovided by HGNC
Primary source
HGNC:HGNC:16949
See related
Ensembl:ENSG00000184083 MIM:300741
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
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Genomic context

See FAM120C in Genome Data Viewer
Location:
Xp11.22
Exon count:
18
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (54068324..54183284, complement)
105.20201022 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 PHD finger protein 8 Neighboring gene ribosomal protein L37 pseudogene 24 Neighboring gene WNK lysine deficient protein kinase 3 Neighboring gene ribosomal protein L7a pseudogene 71 Neighboring gene RNA, U6 small nuclear 434, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 

General protein information

Preferred Names
constitutive coactivator of PPAR-gamma-like protein 2
Names
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_001300788.2NP_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_017848.6NP_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
    Q9NX05
    Related
    ENSP00000364324.2, ENST00000375180.7
  3. NM_198456.3NP_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: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    54068324..54183284 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724589.4XP_006724652.1  constitutive coactivator of PPAR-gamma-like protein 2 isoform X1

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