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FAM120C

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Protein-coding gene in the species Homo sapiens
FAM120C
Identifiers
AliasesFAM120C, CXorf17, ORF34, family with sequence similarity 120C
External IDsOMIM: 300741; MGI: 2387687; HomoloGene: 9876; GeneCards: FAM120C; OMA:FAM120C - orthologs
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)
X chromosome (human)Genomic location for FAM120CGenomic location for FAM120C
BandXp11.22Start54,068,324 bp
End54,183,281 bp
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)
X chromosome (mouse)Genomic location for FAM120CGenomic location for FAM120C
BandX|X F3Start150,127,171 bp
End150,254,838 bp
RNA expression pattern
Bgee
HumanMouse (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
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 MbChr X: 150.13 – 150.25 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

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

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. .

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000184083Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000025262Ensembl, 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.

Further reading


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