FAM120C (Family with sequence similarity 120C) is a protein-coding gene in humans that encodes for constitutive coactivator of PPAR-gamma-like protein 2. It belongs to the FAM120 gene family, which includes two other human paralogs: FAM120A and FAM120B.
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 18 exons. It is located on the reverse strand and spans 114,931 base pairs.
Transcript 1: This is the longest transcript variant and encodes the longest isoform. It is composed of exons 1-16.
Transcript 2: This is the shortest transcript variant and encodes the shortest isoform. It is composed of exons 1 and 2B. The alternative exon 2B is derived from a MLT1E repeat in intron 1.
Transcript 3: This transcript is composed of exons 1-11 and 14-16. The exclusion of exons 12 and 13 results in a frameshift relative to transcript 1.
Protein
The FAM120C gene encodes for constitutive coactivator of PPAR-gamma-like protein 2. There are 3 known isoforms of this protein.
Constitutive coactivator of PPAR-gamma-like protein 2 contains a PIN domain, a FAM120A/B/C helical domain, and two omega-N-methylarginine sites.
↑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. PMID14585507.
