C12orf4 - chromosome 12 open reading frame 4 Gene

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

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	Pre-designed Sets	/	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

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