Gene Gene information from NCBI Gene database.
Entrez ID 23301
Gene name EH domain binding protein 1
Gene symbol EHBP1
Synonyms (NCBI Gene)
HPC12NACSIN
Chromosome 2
Chromosome location 2p15
Summary This gene encodes an Eps15 homology domain binding protein. The encoded protein may play a role in endocytic trafficking. A single nucleotide polymorphism in this gene is associated with an aggressive form of prostate cancer. Alternate splicing results in
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs721048 G>A Pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
263
miRTarBase ID miRNA Experiments Reference
MIRT049419 hsa-miR-92a-3p qRT-PCR 23622248
MIRT049419 hsa-miR-92a-3p CLASH 23622248
MIRT955324 hsa-miR-140-3p CLIP-seq
MIRT955325 hsa-miR-149 CLIP-seq
MIRT955326 hsa-miR-3064-5p CLIP-seq
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:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IEA
GO:0005768 Component Endosome IEA
GO:0005829 Component Cytosol IDA
GO:0005886 Component Plasma membrane IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609922 29144 ENSG00000115504
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NDI1
Protein name EH domain-binding protein 1
Protein function May play a role in actin reorganization. Links clathrin-mediated endocytosis to the actin cytoskeleton. May act as Rab effector protein and play a role in vesicle trafficking (PubMed:14676205, PubMed:27552051). Required for perinuclear sorting a
PDB 2D89 , 6ZSH , 6ZSI , 6ZSJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10358 NT-C2 12 165 N-terminal C2 in EEIG1 and EHBP1 proteins Domain
PF00307 CH 443 549 Calponin homology (CH) domain Domain
PF12130 DUF3585 1074 1210 Bivalent Mical/EHBP Rab binding domain Domain
Sequence
MASVWKRLQRVGKHASKFQFVASYQELMVECTKKWQPDKLVVVWTRRSRRKSSKAHSWQP
GIKNPYRGVVVWPVPENIEITVTLFKDPHAEEFEDKEWTFVIENESPSGRRKALATSSIN
MKQYASPMPTQTDVKLKFKPLSKKVVSAALQFSLSCIFLREGKAT
DEDMQSLASLMSMKQ
ADIGNLDDFEEDNEDDDENRVNQEEKAAKITEIVNQLNALSSLDEDQDDCIKQANMRSAK
SASSSEELINKLNFLDEAEKDLATVNSNPFDDPDAAELNPFGDPDSEEPITETASPRKTE
DSFYNNSYNPFKEVQTPQYLNPFDEPEAFVTIKDSPPQSTKRKNIRPVDMSKYLYADSSK
TEEEELDESNPFYEPKSTPPPNNLVNPVQELETERRVKRKAPAPPVLSPKTGVLNENTVS
AGKDLSTSPKPSPIPSPVLGRKPNASQSLLVWCKEVTKNYRGVKITNFTTSWRNGLSFCA
ILHHFRPDLIDYKSLNPQDIKENNKKAYDGFASIGISRLLEPSDMVLLAIPDKLTVMTYL
YQIRAHFSG
QELNVVQIEENSSKSTYKVGNYETDTNSSVDQEKFYAELSDLKREPELQQP
ISGAVDFLSQDDSVFVNDSGVGESESEHQTPDDHLSPSTASPYCRRTKSDTEPQKSQQSS
GRTSGSDDPGICSNTDSTQAQVLLGKKRLLKAETLELSDLYVSDKKKDMSPPFICEETDE
QKLQTLDIGSNLEKEKLENSRSLECRSDPESPIKKTSLSPTSKLGYSYSRDLDLAKKKHA
SLRQTESDPDADRTTLNHADHSSKIVQHRLLSRQEELKERARVLLEQARRDAALKAGNKH
NTNTATPFCNRQLSDQQDEERRRQLRERARQLIAEARSGVKMSELPSYGEMAAEKLKERS
KASGDENDNIEIDTNEEIPEGFVVGGGDELTNLENDLDTPEQNSKLVDLKLKKLLEVQPQ
VANSPSSAAQKAVTESSEQDMKSGTEDLRTERLQKTTERFRNPVVFSKDSTVRKTQLQSF
SQYIENRPEMKRQRSIQEDTKKGNEEKAAITETQRKPSEDEVLNKGFKDTSQYVVGELAA
LENEQKQIDTRAALVEKRLRYLMDTGRNTEEEEAMMQEWFMLVNKKNALIRRMNQLSLLE
KEHDLERRYELLNRELRAMLAIEDWQKTEAQKRREQLLLDELVALVNKRDALVRDLDAQE
KQAEEEDEHL
ERTLEQNKGKMAKKEEKCVLQ
Sequence length 1231
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
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
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE 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
Cholangiocarcinoma Cholangiocarcinoma Pubtator 32897609 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 40004500 Associate
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 35717579 Associate
★☆☆☆☆
Found in Text Mining only
Lymphoma Lymphoma Pubtator 33883344 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer GWASDB_DG 18264098
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer CTD_human_DG 23593118
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 24451147, 26967244
★☆☆☆☆
Found in Text Mining only
Nasopharyngeal carcinoma Nasopharyngeal Carcinoma GWASDB_DG 20512145
★☆☆☆☆
Found in Text Mining only
Prostate Cancer, Hereditary, 12 Prostate Cancer, Hereditary CLINVAR_DG
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)