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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in camera-type eye morphogenesis	IMP IMP: Inferred from mutant phenotype	23453665	GOA
involved in cognition	IMP IMP: Inferred from mutant phenotype	23633300	GOA
involved in corpus callosum morphogenesis	IMP IMP: Inferred from mutant phenotype	23453665	GOA
involved in post-embryonic development	IMP IMP: Inferred from mutant phenotype	23453665	GOA
involved in psychomotor behavior	IMP IMP: Inferred from mutant phenotype	23633300	GOA
involved in regulation of skeletal muscle contraction	IMP IMP: Inferred from mutant phenotype	23453665	GOA
involved in third ventricle development	IMP IMP: Inferred from mutant phenotype	23453666	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	23453666	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

C12orf57 Protein Structure

P_C10

0
100
126 a.a.

Protein Preferred Names

Protein Names

protein C10

gene rich cluster C10

C12orf57 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	C12orf57	Q99622	INSL3	Homo sapiens	P51460	Y2H Array	32296183
Intra	C12orf57	Q99622	INSL3	Homo sapiens	P51460	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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	Pre-designed Sets	/	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

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