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 name Gene Name - the full gene name approved by the HGNC.
Chromosome 12 open reading frame 57
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
C12orf57
Synonyms (NCBI Gene) Gene synonyms aliases
C10, GRCC10
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.31
Summary Summary 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
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
Show/Hide all(12)
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
Other IDs Other 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
615140 29521 ENSG00000111678
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
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed, with higher expression in lung and fetal brain. {ECO:0000269|PubMed:23453666}.
Sequence
Sequence length 126
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Temtamy Syndrome temtamy syndrome rs374836404, rs1565574197, rs782424035, rs782640048, rs1591674823, rs587776954, rs587776955, rs587777698, rs1114167293 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mental retardation intellectual disability N/A N/A ClinVar
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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