• Gene id: 113246

Gene Summary

• Gene Symbol: C12orf57   Gene   UCSC   Ensembl
• Aliases: C10, GRCC10
• Gene name: chromosome 12 open reading frame 57
• Alternate names: protein C10, gene rich cluster C10, likely ortholog of mouse gene rich cluster, C10,
• Gene location: 12p13.31 (18859659: 18839598)     Exons: 6     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 615140

Protein Summary

• Protein general information: Q99622  
  • Name: Protein C10
  • Length: 126  
  • Mass: 13178
  • Tissue specificity: Ubiquitously expressed, with higher expression in lung and fetal brain. {ECO
• Sequence:

  MASASTQPAALSAEQAKVVLAEVIQAFSAPENAVRMDEARDNACNDMGKMLQFVLPVATQIQQEVIKAYGFSCDG
  EGVLKFARLVKSYEAQDPEIASLSGKLKALFLPPMTLPPHGPAAGGSVAAS

• Structural information:
  • Interpro: IPR026317  
  • STRING: ENSP00000229281
• Other Databases: GeneCards:  C12orf57  Malacards:  C12orf57

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0021678	third ventricle development	IMP	biological process
GO:0048593	camera-type eye morphogenesis	IMP	biological process
GO:0050890	cognition	IMP	biological process
GO:0048593	camera-type eye morphogenesis	IMP	biological process
GO:0021540	corpus callosum morphogenesis	IMP	biological process
GO:0009791	post-embryonic development	IMP	biological process
GO:0014819	regulation of skeletal muscle contraction	IMP	biological process
GO:0036343	psychomotor behavior	IMP	biological process
GO:0009791	post-embryonic development	IMP	biological process
GO:0014819	regulation of skeletal muscle contraction	IMP	biological process
GO:0014819	regulation of skeletal muscle contraction	IMP	biological process
GO:0009791	post-embryonic development	IMP	biological process
GO:0009791	post-embryonic development	IMP	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0021540	corpus callosum morphogenesis	IMP	biological process
GO:0021540	corpus callosum morphogenesis	IMP	biological process
GO:0048593	camera-type eye morphogenesis	IMP	biological process
GO:0021540	corpus callosum morphogenesis	IMP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray