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C12orf4 - chromosome 12 open reading frame 4 Gene

Also Known as MRT66

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57102

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

C12orf4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FERRY3	Q9NQ89	LAMP2	Homo sapiens	P13473-2	Y2H Array	32814053
Intra	FERRY3	Q9NQ89	LAMP2	Homo sapiens	P13473-2	Validated Y2H	32814053
Intra	FERRY3	Q9NQ89	LAMP2	Homo sapiens	P13473-2	Y2H Pooling	32814053
Intra	FERRY3	Q9NQ89	SH3GLB1	Homo sapiens	Q9Y371	Validated Y2H	32814053
Intra	FERRY3	Q9NQ89	SH3GLB1	Homo sapiens	Q9Y371	Y2H Array	32814053
Intra	FERRY3	Q9NQ89	SH3GLB1	Homo sapiens	Q9Y371	Y2H Pooling	32814053
Intra	FERRY3	Q9NQ89	PPP1R21	Homo sapiens	Q6ZMI0	GMS	37267906
Intra	FERRY3	Q9NQ89	PPP1R21	Homo sapiens	Q6ZMI0	Anti Tag CoIP	33961781
Intra	FERRY3	Q9NQ89	PPP1R21	Homo sapiens	Q6ZMI0	Crosslink	37267906
Intra	FERRY3	Q9NQ89	PPP1R21	Homo sapiens	Q6ZMI0	Biophysical	37267906
Intra	FERRY3	Q9NQ89	PRPF40A	Homo sapiens	O75400-2	Validated Y2H	32814053
Intra	FERRY3	Q9NQ89	PRPF40A	Homo sapiens	O75400-2	Y2H Array	32814053
Intra	FERRY3	Q9NQ89	PRPF40A	Homo sapiens	O75400-2	Y2H Pooling	32814053
Intra	FERRY3	Q9NQ89	HMOX2	Homo sapiens	P30519	Y2H Array	32814053
Intra	FERRY3	Q9NQ89	HMOX2	Homo sapiens	P30519	Y2H Pooling	32814053
Intra	FERRY3	Q9NQ89	HMOX2	Homo sapiens	P30519	Validated Y2H	32814053
Intra	FERRY3	Q9NQ89	CASP6	Homo sapiens	P55212	Y2H Pooling	32814053
Intra	FERRY3	Q9NQ89	CASP6	Homo sapiens	P55212	Validated Y2H	32814053
Intra	FERRY3	Q9NQ89	CASP6	Homo sapiens	P55212	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS01697	C12orf4 Human Pre-designed siRNA Set A	Pre-designed Set	/	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