C12orf57 - chromosome 12 open reading frame 57 Gene

Homo sapiens

Also known as C10; GRCC10

Gene ID: 113246 | Gene type: protein coding

About C12orf57

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:6,943,433-6,946,003 (from NCBI)

This gene has 7 transcripts (splice variants), 187 orthologues and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 98.5), prostate (RPKM 39.0) and 25 other tissues.

Summary

This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

C12orf57 Products(5)

mRNA	Protein	Name
NM_001301834.1	NP_001288763.1	protein C10 isoform 1
NM_001301836.2	NP_001288765.1	protein C10 isoform 2
NM_001301837.2	NP_001288766.1	protein C10 isoform 3
NM_001301838.2	NP_001288767.1	protein C10 isoform 4
NM_138425.4	NP_612434.1	protein C10 isoform 1

C12orf57 Protein Structure

P_C10

0
100
126 a.a.

Protein Preferred Names

Protein Names

protein C10

gene rich cluster C10

Related Diseases

Diseases

Alias

Temtamy Syndrome

TEMTYS	Craniofacial Dysmorphism With Ocular Coloboma Absent Corpus Callosum And Aortic Dilatation
Craniofacial Dysmorphism-Coloboma-Corpus Callosum Agenesis Syndrome	Dysmorphism, Corpus Callosum Agenesis And Colobomas
Temtamy-Shalash Syndrome	Mental Retardation With Or Without Craniofacial Dysmorphism, Ocular Coloboma, Or Abnormal Corpus Callosum

Aicardi-Goutieres Syndrome 9

AGS9

Vesicoureteral Reflux

Vesico-Ureteral Reflux

Hydronephrosis

Stricture Of Ureteropelvic Junction With Hydronephrosis

Hydronephrosis With Ureteral Stricture, Not Elsewhere Classified

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

Coloboma Of Macula

Coloboma	Congenital Ocular Coloboma
Microphthalmia, Isolated, With Coloboma	Agenesis Of Macula
Hereditary Macular Coloboma	Ocular Coloboma
Coloboma Of Eye	Macular Coloboma
Uveoretinal Coloboma

Colobomatous Microphthalmia

Anophthalmia-Microphthalmia Syndrome	Mac
Microphthalmia With Colobomatous Cyst	Microphthalmia-Anophthalmia-Coloboma Syndrome
Microphthalmia-Anophthalmia-Coloboma	Microphthalmia And Mental Deficiency

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-RS01698	C12orf57 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	C12orf57	VGNC	VGNC:55856
Canis familiaris	C12orf57	VGNC	VGNC:49231
Macaca mulatta	C12orf57	VGNC	VGNC:70437
Mus musculus	C12orf57	MGD	MGI:1315201
Rattus norvegicus	C12orf57	RGD	RGD:2318975
Felis catus	C12orf57	VGNC	VGNC:60420

Name
Email *

	Sorry, but the email address you supplied was invalid.