2. Gene
  3. C12orf4 - chromosome 12 open reading frame 4 Gene

C12orf4 - chromosome 12 open reading frame 4 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as MRT66

Gene ID: 57102 | Gene type: protein coding

About C12orf4

Cytogenetic location: 12p13.32 Genomic coordinates (GRCh38): 12:4,487,735-4,538,469 (from NCBI)

This gene has 9 transcripts (splice variants), 210 orthologues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 4.7), thyroid (RPKM 4.4) and 25 other tissues.

Summary

This gene is highly conserved from nematodes to humans. In rat, the orthologous gene encodes a cytoplasmic protein that is involved in mast cell degranulation. The human gene has been implicated in autosomal recessive intellectual disability. [provided by RefSeq, Sep 2016]

C12orf4 Products(7)

mRNA Protein Name
NM_001304811.2 NP_001291740.1 protein C12orf4 isoform a
NM_001346153.2 NP_001333082.1 protein C12orf4 isoform b
NM_001346155.2 NP_001333084.1 protein C12orf4 isoform b
NM_001346156.2 NP_001333085.1 protein C12orf4 isoform c
NM_001346157.2 NP_001333086.1 protein C12orf4 isoform d
NM_001352962.2 NP_001339891.1 protein C12orf4 isoform e
NM_020374.4 NP_065107.1 protein C12orf4 isoform a

C12orf4 Protein Structure

DUF2362

DUF2362: Uncharacterized conserved protein (DUF2362) (37 - 548)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 552 a.a.
Protein Preferred Names Protein Names

protein C12orf4

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, Autosomal Recessive 66

Mental Retardation, Autosomal Recessive 66

MRT66

Autosomal Recessive Intellectual Developmental Disorder 66
Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid
Retinitis Pigmentosa 75

RP75

Retinitis Pigmentosa, Type 75
Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity
Hypotonia
Distal Muscular Dystrophy With Anterior Tibial Onset

Dmat
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-RS01697 C12orf4 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus C12orf4 RGD RGD:1311164
Felis catus C12orf4 VGNC VGNC:60416
Bos taurus C12orf4 VGNC VGNC:106665
Macaca mulatta C12orf4 VGNC VGNC:70296
Canis familiaris C12orf4 VGNC VGNC:49229
Mus musculus C12orf4 MGD MGI:107893
Others C12orf4 NCBI