Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	113246
Gene name	Chromosome 12 open reading frame 57
Gene symbol	C12orf57
Synonyms (NCBI Gene)	C10GRCC10
Chromosome	12
Chromosome location	12p13.31
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

SNP ID	Visualize variation	Clinical significance	Consequence
rs374836404	G>A	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, splice acceptor variant
rs587776955	T>A	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1114167293	A>G	Pathogenic	Non coding transcript variant, 5 prime UTR variant, splice acceptor variant

miRTarBase ID	miRNA	Experiments	Reference
MIRT023655	hsa-miR-1-3p	Proteomics	18668040
MIRT049620	hsa-miR-92a-3p	CLASH	23622248
MIRT039956	hsa-miR-615-3p	CLASH	23622248
MIRT1946269	hsa-miR-3922-5p	CLIP-seq

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IDA	23453666
GO:0005737	Component	Cytoplasm	IEA
GO:0009791	Process	Post-embryonic development	IBA
GO:0009791	Process	Post-embryonic development	IMP	23453665, 23453666, 23633300, 24798461
GO:0014819	Process	Regulation of skeletal muscle contraction	IMP	23453665, 23633300, 24798461
GO:0016607	Component	Nuclear speck	IDA
GO:0021540	Process	Corpus callosum morphogenesis	IMP	23453665, 23453666, 23633300, 24798461
GO:0021678	Process	Third ventricle development	IMP	23453666
GO:0036343	Process	Psychomotor behavior	IMP	23633300
GO:0048593	Process	Camera-type eye morphogenesis	IMP	23453665, 23633300, 24798461
GO:0050890	Process	Cognition	IMP	23633300

MIM	HGNC	e!Ensembl
615140	29521	ENSG00000111678

Protein name

Protein C10

Protein function

In brain, may be required for corpus callosum development.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14974	P_C10	11 → 113	Protein C10	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed, with higher expression in lung and fetal brain. {ECO:0000269|PubMed:23453666}.

Sequence

MASASTQPAALSAEQAKVVLAEVIQAFSAPENAVRMDEARDNACNDMGKMLQFVLPVATQ
IQQEVIKAYGFSCDGEGVLKFARLVKSYEAQDPEIASLSGKLKALFLPPMTLPPHGPAAG
GSVAAS

Sequence length

126

Interactions

View interactions

230

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal corpus callosum morphology	Likely pathogenic; Pathogenic	rs587776954	RCV000162118
Global developmental delay	Likely pathogenic; Pathogenic	rs587776954	RCV000162118
Microphthalmia, isolated, with coloboma	Likely pathogenic; Pathogenic	rs587776954	RCV000162118
Seizure	Likely pathogenic; Pathogenic	rs587776954	RCV000162118
Temtamy syndrome	Pathogenic; Likely pathogenic	rs782335776, rs587777698, rs1555146046, rs782435454, rs782502903, rs782640048, rs2542670199, rs2542669402, rs1114167293, rs782784989, rs1359105410, rs587776954, rs587776955, rs374836404, rs1565574197, rs782424035, rs1591674823 View all (2 more)	RCV001648519 RCV000143978 RCV003087824 RCV002649768 RCV002740276 RCV002801087 RCV002875960 RCV003149142 RCV000985183 RCV003388703 RCV003735402 RCV000034852 RCV000034853 RCV000642298 RCV001067030 RCV000820558 RCV000819515 RCV000988779

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
C12orf57-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	rs372253812, rs113296395, rs377078607, rs139938808, rs781802135, rs868972460, rs199643110, rs146024802, rs747313284, rs148483779	RCV004757414 RCV003931310 RCV003976221 RCV003927767 RCV003981691 RCV003956773 RCV004730961 RCV004757244 RCV003910805 RCV003895621 RCV004757391
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs139068225	RCV005892247
Familial cancer of breast	Benign	rs915997	RCV005916237
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs139068225	RCV005892246
Intellectual disability	Uncertain significance	rs782145941	RCV001251703
Malignant tumor of urinary bladder	Uncertain significance	rs1565575071	RCV005869738
Melanoma	Conflicting classifications of pathogenicity	rs139068225	RCV005892248
Thymoma	Likely benign	rs373481275	RCV005912443

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Agenesis of Corpus Callosum	Associate	23453666, 35791610
Epileptic Encephalopathy Early Infantile 3	Associate	35791610
Infantile Epileptic Dyskinetic Encephalopathy	Associate	35791610
Intellectual Disability	Associate	35791610
Keratoconus	Associate	19956410
Seizures	Associate	35791610
Temtamy syndrome	Associate	35791610

C12orf57 (chromosome 12 open reading frame 57)