Gene Gene information from NCBI Gene database.
Entrez ID 64897
Gene name Chromosome 12 open reading frame 43
Gene symbol C12orf43
Synonyms (NCBI Gene)
Custos
Chromosome 12
Chromosome location 12q24.31
miRNA miRNA information provided by mirtarbase database.
323
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT, 20 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Coronary Arteriosclerosis Coronary Arteriosclerosis BEFREE 27263109
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease BEFREE 19198612, 27263109
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease Coronary artery disease Pubtator 19198612, 35866398 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Coronary heart disease Coronary Heart Disease BEFREE 27263109
★☆☆☆☆
Found in Text Mining only
Hyperlipidemias Hyperlipidemia Pubtator 35866398 Associate
★☆☆☆☆
Found in Text Mining only
Hypertriglyceridemia Hypertriglyceridemia Pubtator 25057215 Associate
★☆☆☆☆
Found in Text Mining only
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) Mason type diabetes CLINVAR_DG
★☆☆☆☆
Found in Text Mining only