FAM120C

FAM120C
Identifiers
Aliases	FAM120C , CXorf17, ORF34, family with sequence similarity 120C
External IDs	OMIM: 300741; MGI: 2387687; HomoloGene: 9876; GeneCards: FAM120C; OMA:FAM120C - orthologs
Gene location (Human) Chr. X chromosome (human) [1] Band Xp11.22 Start 54,068,324 bp [1] End 54,183,281 bp [1]
Gene location (Mouse) Chr. X chromosome (mouse) [2] Band X|X F3 Start 150,127,171 bp [2] End 150,254,838 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS n/a
Orthologs Species Human Mouse 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 Mb Chr X: 150.13 – 150.25 Mb PubMed search [3] [4]
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].

References

1. GRCh38: Ensembl release 89: ENSG00000184083 – Ensembl, May 2017
2. 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.