Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64897
Gene name Gene Name - the full gene name approved by the HGNC.
Chromosome 12 open reading frame 43
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
C12orf43
Synonyms (NCBI Gene) Gene synonyms aliases
Custos
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.31
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT831008 hsa-miR-1200 CLIP-seq
MIRT831009 hsa-miR-1262 CLIP-seq
MIRT831010 hsa-miR-1264 CLIP-seq
MIRT831011 hsa-miR-1293 CLIP-seq
MIRT831012 hsa-miR-1299 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21044950
GO:0005634 Component Nucleus IEA
GO:0005635 Component Nuclear envelope IEA
GO:0016055 Process Wnt signaling pathway IEA
GO:0030178 Process Negative regulation of Wnt signaling pathway IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
UniProt ID Q96C57
Protein name Protein CUSTOS
Protein function Plays a role in the regulation of Wnt signaling pathway during early development.
Family and domains
Sequence
MAAPSGTVSDSESSNSSSDAEELERCREAAMPAWGLEQRPHVAGKPRAGAANSQLSTSQP
SLRHKVNEHEQDGNELQTTPEFRAHVAKKLGALLDSFITISEAAKEPAKAKVQKVALEDD
GFRLFFTSVPGGREKEESPQPRRKRQPSSSSEDSDEEWRRCREAAVSASDILQESAIHSP
GTVEKEAKKKRKLKKKAKKVASVDSAVAATTPTSMATVQKQKSGELNGDQVSLGTKKKKK
AKKASETSPFPPAKSATAIPAN
Sequence length 262
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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
Diabetes Type 2 diabetes mellitus or coronary artery disease (pleiotropy), Type 2 diabetes mellitus adjusted for BMI or coronary artery disease (pleiotropy) N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Coronary Artery Disease Associate 19198612, 35866398
Hyperlipidemias Associate 35866398
Hypertriglyceridemia Associate 25057215