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// Workers AI · dad joke modeWhat did FAM120C say to its gene friend? "You're a family member, C-ing you around!

From Wikipedia, the free encyclopedia

FAM120C
Identifiers
AliasesFAM120C, CXorf17, ORF34, family with sequence similarity 120C
External IDsOMIM: 300741; MGI: 2387687; GeneCards: FAM120C
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr X: 150.13 – 150.25 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Family with sequence similarity 120C is a protein in humans that is encoded by the FAM120C gene.[5]

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].

Gene

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The FAM120C gene is located on the X chromosome and contains 16 exons.[6][7]

Transcript

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Protein

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The FAM120C gene codes for constitutive coactivator of PPAR-gamma-like protein 2.[8] There are 3 known isoforms of this protein.[8][9][10]

Homologs

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FAM120C has one known ortholog in mice, orf34.[7]

References

[edit]
  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000184083 – Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025262 – Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ↑ "Entrez Gene: Family with sequence similarity 120C". Retrieved 2012-10-30.
  6. ↑ "Homo sapiens constitutive coactivator of PPAR-gamma-like protein 2 (FAM120C), transcript variant 1, mRNA". Nucleotide [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information. Accession No. NM_017848.6.
  7. 1 2 Holden S, Raymond FL (October 2003). "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". Gene. 318: 149–161. doi:10.1016/s0378-1119(03)00770-4. PMID 14585507.
  8. 1 2 "Constitutive coactivator of PPAR-gamma-like protein 2 isoform 1 [Homo sapiens]". Protein [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; [1988] – . Accession No. NP_060318.4.
  9. ↑ "Constitutive coactivator of PPAR-gamma-like protein 2 isoform 2 [Homo sapiens]". Protein [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; [1988]. Accession No. NP_940858.2.
  10. ↑ "Constitutive coactivator of PPAR-gamma-like protein 2 isoform 3 [Homo sapiens]". Protein [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information. Accession No. NP_001287717.1.