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C12orf57 (chromosome 12 open reading frame 57)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
113246
Gene nameGene Name - the full gene name approved by the HGNC.
Chromosome 12 open reading frame 57
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
C12orf57
SynonymsGene synonyms aliases
C10, GRCC10
ChromosomeChromosome number
12
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.31
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IDA 23453666
GO:0009791 Process Post-embryonic development IBA 21873635
GO:0009791 Process Post-embryonic development IMP 23453665, 23453666, 23633300, 24798461
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q99622
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
Sequence
Sequence length 126
Interactions View interactions
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Aortic aneurysm Aortic Aneurysm rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953, rs794728021, rs8046180, rs797045725, rs876657852, rs878854466, rs886038978, rs746972765, rs886039303, rs886040965, rs886040966, rs886040967, rs886229659, rs1553781304, rs1060502531, rs1553795301, rs1553803235, rs1213452826, rs869025352, rs1553780501, rs1553785222, rs1382893400, rs1554841990, rs1430822242, rs1567692384, rs1576422965, rs1596712899, rs2059732940, rs2041090817, rs1439991530
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs120074176, rs786205019
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Unknown
Disease name Disease term dbSNP ID References
Aortic valve insufficiency Aortic Valve Insufficiency
Atrophy of kidney Atrophy of kidney
Camptodactyly of fingers Clinodactyly of the 5th finger
Congenital clubfoot Congenital clubfoot

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