C12orf57 - chromosome 12 open reading frame 57 Gene

Also Known as C10; GRCC10

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 113246

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 References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence References 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 References 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

P_C10: Protein C10 (11 - 113)

  • 0
  • 100
  • 126 a.a.
Protein Preferred Names Protein Names

protein C10

  • gene rich cluster C10

C12orf57 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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

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 Set / 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
Others C12orf57 NCBI