FAM120C - family with sequence similarity 120C Gene

Homo sapiens

Also known as ORF34; CXorf17

Gene ID: 54954 | Gene type: protein coding

About FAM120C

Cytogenetic location: Xp11.22 Genomic coordinates (GRCh38): X:54,068,324-54,183,254 (from NCBI)

This gene has 4 transcripts (splice variants), 174 orthologues and 2 paralogues. Ubiquitous expression in brain (RPKM 3.7), ovary (RPKM 1.9) and 25 other tissues.

Summary

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]

FAM120C Products(3)

mRNA	Protein	Name
NM_001300788.2	NP_001287717.1	constitutive coactivator of PPAR-gamma-like protein 2 isoform 3
NM_017848.6	NP_060318.4	constitutive coactivator of PPAR-gamma-like protein 2 isoform 1
NM_198456.3	NP_940858.2	constitutive coactivator of PPAR-gamma-like protein 2 isoform 2

Protein Preferred Names

Protein Names

constitutive coactivator of PPAR-gamma-like protein 2

tumor antigen BJ-HCC-21

Related Diseases

Diseases

Alias

Syndromic X-Linked Intellectual Disability Siderius Type

Mrxssd	Siderius-Hamel Syndrome
Siderius X-Linked Mental Retardation Syndrome

Stocco Dos Santos Type X-Linked Intellectual Disability

X-Linked Intellectual Disability, Stocco Dos Santos Type	Stocco Dos Santos Syndrome
Sdsx	Stocco Dos Santos X-Linked Mental Retardation Syndrome

Desmoid Disease, Hereditary

Fif	DESMD
Hereditary Desmoid Disease	Familial Infiltrative Fibromatosis
Fibromatosis, Familial Infiltrative	Fibromatosis, Aggressive

Trichothiodystrophy 4, Nonphotosensitive

Amish Brittle Hair Brain Syndrome	TTD4
Trichothiodystrophy, Nonphotosensitive 1	Hair-Brain Syndrome
Bids Syndrome	Ttdn1
Abhs	Pollitt Syndrome
Trichothiodystrophy-Neurocutaneous Syndrome	Nonphotosensitive Trichothiodystrophy 4
Trichorrhexis Nodosa Syndrome	Trichothiodystrophy 4, Non-Photosensitive
Trichothiodystrophy Non-Photosensitive 1

Cataract 40

CTRCT40	Cataract 40 With Or Without Microcornea
Cct	Cataract, Congenital, X-Linked
Cataract 40, X-Linked	Cataract, Congenital, With Microcornea Or Slight Microphthalmia
Cxn	Cataract, Congenital Total, With Posterior Sutural Opacities In Heterozygotes
Cataract 40 X-Linked	Cataract Congenital X-Linked
Cataract, Total Congenital	Cataract, Total Congenital With Posterior Sutural Opacities In Heterozygotes
Congenital Total Cataract With Posterior Sutural Opacities In Heterozygotes	X-Linked Congenital Cataract
Cataract, Type 40

Trichothiodystrophy 1, Photosensitive

TTD1	Tay Syndrome
Trichothiodystrophy With Congenital Ichthyosis	Photosensitive Trichothiodystrophy
Ibids Syndrome	Ttdp
Ichthyosiform Erythroderma With Hair Abnormality And Mental And Growth Retardation	Ichthyosis, Congenital, With Trichothiodystrophy
Pibids Syndrome	Photosensitive Trichothiodystrophy 1
Trichothiodystrophy, Photosensitive	Sulfur-Deficient Brittle Hair Syndrome
Ttd-P	Ichthyosis With Brittle Hair, Intellectual Impairment, Decreased Fertility And Short Stature
Trichothiodystrophy Photosensitive	Trichothiodystrophy, Type 1
Tricho-Thiodystrophy Disorder	Trichothiodystrophy Syndromes
Amish Brittle Hair Brain Syndrome

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04682	FAM120C Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	FAM120C	VGNC	VGNC:62056
Mus musculus	FAM120C	MGD	MGI:2387687
Rattus norvegicus	FAM120C	RGD	RGD:1564253
Macaca mulatta	FAM120C	VGNC	VGNC:72284
Bos taurus	FAM120C	VGNC	VGNC:28721

Name
Email *

	Sorry, but the email address you supplied was invalid.