FAM120C

FAM120C
Identifiers
Aliases	FAM120C, CXorf17, ORF34, family with sequence similarity 120C
External IDs	OMIM: 300741; MGI: 2387687; GeneCards: FAM120C
Gene location (Human)
Chr.	X chromosome (human)
End	54,183,281 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	150,254,838 bp
RNA expression pattern
	Top expressed in
	inferior ganglion of vagus nerve; ; ventral tegmental area; ; internal globus pallidus; ; subthalamic nucleus; ; superior vestibular nucleus; ; pars reticulata; ; cerebellar vermis; ; mucosa of paranasal sinus; ; trigeminal ganglion; ; gonad;
	Top expressed in
	arcuate nucleus; ; paraventricular nucleus of hypothalamus; ; suprachiasmatic nucleus; ; dorsomedial hypothalamic nucleus; ; interventricular septum; ; median eminence; ; ventral tegmental area; ; central gray substance of midbrain; ; habenula; ; olfactory tubercle;
	More reference expression data
	n/a
Orthologs
Databases	NCBI: entry; OMA: entry
	54954
	207375
	ENSG00000184083
	ENSMUSG00000025262
	Q9NX05
	Q8C3F2
	NM_001300788; NM_017848; NM_198456
	NM_198105
	NP_001287717; NP_060318; NP_940858
	NP_932773
	Wikidata
View/Edit Human	View/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

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

Transcript

Protein

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

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

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000184083 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025262 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: Family with sequence similarity 120C". Retrieved 2012-10-30.
↑ "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.
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.
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.
↑ "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.
↑ "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.

This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000184083 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-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.

[Holden_2003-7] 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.

[:2-8] 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.

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