Gene Gene information from NCBI Gene database.
Entrez ID 150350
Gene name ENTH domain containing 1
Gene symbol ENTHD1
Synonyms (NCBI Gene)
CACNA1IdJ370M22.3
Chromosome 22
Chromosome location 22q13.1
miRNA miRNA information provided by mirtarbase database.
359
miRTarBase ID miRNA Experiments Reference
MIRT018379 hsa-miR-335-5p Microarray 18185580
MIRT721362 hsa-miR-1470 HITS-CLIP 19536157
MIRT721361 hsa-miR-4667-3p HITS-CLIP 19536157
MIRT721360 hsa-miR-3120-5p HITS-CLIP 19536157
MIRT721359 hsa-miR-2115-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183, 33961781
GO:0005543 Function Phospholipid binding IBA
GO:0005737 Component Cytoplasm IEA
GO:0005768 Component Endosome IBA
GO:0005886 Component Plasma membrane 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.
Q8IYW4
Protein name ENTH domain-containing protein 1 (Epsin-2B)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01417 ENTH 14 137 ENTH domain Domain
Sequence
MAFRRQVKNFVKNYSDAEIKVREATSNDPWGPSSSLMLDISDLTFNTISLSEIMNMLWHR
LNDHGKNWRHVYKSLTLMDYLIKNGSKKVIQHCREGFCNLQTLKDFQHIDEAGKDQGYYI
REKSKQVITLLMDEPLL
CKEREVACRTRQRTSHSILFSKRQLGSSNSLTACTSAPTPDIS
ASEKKYKLPKFGRLHNKRNVCKAGLKQEHCQDVHLPTETMLSQETLPLKIHGWKSTEDLM
TFLDDDPELPLLATPPSIVSPITCLSEAEEVCNLSGADAVPTLSENSPSGQRDVSLDKRS
DGIFTNTVTENLLETPLEKQSAAEGLKTLTILPACWSSKEEFISPDLRVSKSDSTFHNQA
SVETLCLSPSFKIFDRVKEIVINKAYQKPAQSSIQMDDKILKTTTRVSTASEGASSFSPL
SMSSPDLASPEKSAHLLSPILAGPSFWTLSHQQLSSTSFKDEDKTAKLHHSFASRGPVSS
DVEENDSLNLLGILPNNSDSAKKNISHISSSHWGEFSTQNVDQFIPLSCSGFQSTKDFPQ
EPEAKNSISVLLREVKRAIARLHEDLSTVIQELNVINNILMSMSLNSSQISQSSQVPQSS
EGSSDQI
Sequence length 607
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
MULTIPLE SCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS 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
Autism Spectrum Disorder Autism Pubtator 35220405 Associate
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 28781648
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 26147197, 28781648
★☆☆☆☆
Found in Text Mining only
Child Development Disorders, Pervasive Development Disorder GWASCAT_DG 28540026
★☆☆☆☆
Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders Disruptive, impulse control, and conduct disorders Pubtator 30718321 Associate
★☆☆☆☆
Found in Text Mining only
Edema Edema Pubtator 25069764 Associate
★☆☆☆☆
Found in Text Mining only
Epilepsy, Generalized Epilepsy BEFREE 16939858
★☆☆☆☆
Found in Text Mining only
Huntington Disease Huntington disease Pubtator 33049985 Associate
★☆☆☆☆
Found in Text Mining only
Infertility Infertility Pubtator 30611556 Associate
★☆☆☆☆
Found in Text Mining only
Juvenile arthritis Arthritis GWASCAT_DG 24709693
★☆☆☆☆
Found in Text Mining only