FAM120C

Family with sequence similarity 120C is a protein in humans that is encoded by the FAM120C gene. [4]

FAM120C
Identifiers
AliasesFAM120C, CXorf17, ORF34, family with sequence similarity 120C
External IDsOMIM: 300741 MGI: 2387687 HomoloGene: 9876 GeneCards: FAM120C
Gene location (Human)
Chr.X chromosome (human)[1]
BandXp11.22Start54,068,324 bp[1]
End54,183,281 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

54954

207375

Ensembl

ENSG00000184083

ENSMUSG00000025262

UniProt

Q9NX05

Q8C3F2

RefSeq (mRNA)

NM_001300788
NM_017848
NM_198456

NM_198105

RefSeq (protein)

NP_001287717
NP_060318
NP_940858

NP_932773

Location (UCSC)Chr X: 54.07 – 54.18 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

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].

References
  1. GRCh38: Ensembl release 89: ENSG00000184083 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Entrez Gene: Family with sequence similarity 120C". Retrieved 2012-10-30.

Further reading


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