FAM120C - family with sequence similarity 120C Gene

Also Known as ORF34; CXorf17

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 54954

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

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS04682 FAM120C Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others FAM120C NCBI