Gene Gene information from NCBI Gene database.
Entrez ID 219670
Gene name Enkurin, TRPC channel interacting protein
Gene symbol ENKUR
Synonyms (NCBI Gene)
C10orf63CFAP106
Chromosome 10
Chromosome location 10p12.1
Summary This gene encodes a protein that interacts with calmodulin and several transient receptor potential canonical cation channel proteins. The encoded protein may function as an adaptor to localize signal transduction machinery to calcium channels. Alternativ
miRNA miRNA information provided by mirtarbase database.
56
miRTarBase ID miRNA Experiments Reference
MIRT963528 hsa-miR-1178 CLIP-seq
MIRT963529 hsa-miR-1226 CLIP-seq
MIRT963530 hsa-miR-1254 CLIP-seq
MIRT963531 hsa-miR-1290 CLIP-seq
MIRT963532 hsa-miR-129-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0001669 Component Acrosomal vesicle IBA
GO:0001669 Component Acrosomal vesicle IEA
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005516 Function Calmodulin binding IBA
GO:0005516 Function Calmodulin binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611025 28388 ENSG00000151023
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TC29
Protein name Enkurin
Protein function Adapter that functions to localize a calcium-sensitive signal transduction machinery in sperm to a calcium-permeable ion channel (By similarity). Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia a
PDB 7UNG , 8J07
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13864 Enkurin 152 248 Calmodulin-binding Family
Tissue specificity TISSUE SPECIFICITY: Expressed in airway epithelial cells. {ECO:0000269|PubMed:36191189}.
Sequence
MDPTCSSECIYNLIPSDLKEPPQPPRYISIFKATVKDDMQKAKTAMKTMGPAKVEVPSPK
DFLKKHSKEKTLPPKKNFDRNVPKKPAVPLKTDHPVMGIQSGKNFINTNAADIIMGVAKK
PKPIYVDKRTGDKHDLEPSGLVPKYINKKDYGVTPEYICKRNEEIKKAQEDYDRYIQENL
KKAAMKRLSDEEREAVLQGLKKNWEEVHKEFQSLSVFIDSIPKKIRKQRLEEEMKQLEHD
IGIIEKHK
IIYIANNA
Sequence length 256
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
GENERALIZED ANXIETY DISORDER GWAS catalog
★★☆☆☆
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
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31417642
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 35414777 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 30947633
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 30947633, 35414777 Associate
★☆☆☆☆
Found in Text Mining only
Leukocyte adhesion deficiency type 1 Leukocyte adhesion deficiency BEFREE 31417642
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 30947633, 31417642
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 31417642
★☆☆☆☆
Found in Text Mining only
Situs Inversus Situs Inversus BEFREE 29257953
★☆☆☆☆
Found in Text Mining only
Subfertility Subfertility BEFREE 29733335
★☆☆☆☆
Found in Text Mining only