Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs721048	G>A	Pathogenic	Intron variant

263

Show/Hide all (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
MIRT955327	hsa-miR-3122	CLIP-seq
MIRT955328	hsa-miR-3147	CLIP-seq
MIRT955329	hsa-miR-3158-3p	CLIP-seq
MIRT955330	hsa-miR-3619-3p	CLIP-seq
MIRT955331	hsa-miR-3662	CLIP-seq
MIRT955332	hsa-miR-3689a-3p	CLIP-seq
MIRT955333	hsa-miR-3689c	CLIP-seq
MIRT955334	hsa-miR-3913-5p	CLIP-seq
MIRT955335	hsa-miR-3915	CLIP-seq
MIRT955336	hsa-miR-3921	CLIP-seq
MIRT955337	hsa-miR-3928	CLIP-seq
MIRT955338	hsa-miR-409-3p	CLIP-seq
MIRT955339	hsa-miR-4425	CLIP-seq
MIRT955340	hsa-miR-4432	CLIP-seq
MIRT955341	hsa-miR-451b	CLIP-seq
MIRT955342	hsa-miR-4649-3p	CLIP-seq
MIRT955343	hsa-miR-4653-5p	CLIP-seq
MIRT955344	hsa-miR-4696	CLIP-seq
MIRT955345	hsa-miR-4747-5p	CLIP-seq
MIRT955346	hsa-miR-4781-3p	CLIP-seq
MIRT955347	hsa-miR-4794	CLIP-seq
MIRT955325	hsa-miR-149	CLIP-seq
MIRT955326	hsa-miR-3064-5p	CLIP-seq
MIRT1982869	hsa-miR-4275	CLIP-seq
MIRT955347	hsa-miR-4794	CLIP-seq
MIRT1982870	hsa-miR-548a-5p	CLIP-seq
MIRT1982871	hsa-miR-548ab	CLIP-seq
MIRT1982872	hsa-miR-548ak	CLIP-seq
MIRT1982873	hsa-miR-548b-5p	CLIP-seq
MIRT1982874	hsa-miR-548c-5p	CLIP-seq
MIRT1982875	hsa-miR-548d-5p	CLIP-seq
MIRT1982876	hsa-miR-548h	CLIP-seq
MIRT1982877	hsa-miR-548i	CLIP-seq
MIRT1982878	hsa-miR-548j	CLIP-seq
MIRT1982879	hsa-miR-548k	CLIP-seq
MIRT1982880	hsa-miR-548l	CLIP-seq
MIRT1982881	hsa-miR-548w	CLIP-seq
MIRT1982882	hsa-miR-548y	CLIP-seq
MIRT1982883	hsa-miR-559	CLIP-seq
MIRT1982884	hsa-miR-944	CLIP-seq
MIRT2217843	hsa-miR-3065-5p	CLIP-seq
MIRT2428433	hsa-miR-31	CLIP-seq
MIRT2428434	hsa-miR-3688-5p	CLIP-seq
MIRT955344	hsa-miR-4696	CLIP-seq
MIRT2428435	hsa-miR-499a-5p	CLIP-seq
MIRT2521708	hsa-miR-1179	CLIP-seq
MIRT2521709	hsa-miR-1275	CLIP-seq
MIRT2521710	hsa-miR-127-5p	CLIP-seq
MIRT2521711	hsa-miR-1293	CLIP-seq
MIRT2521712	hsa-miR-1321	CLIP-seq
MIRT2521713	hsa-miR-142-3p	CLIP-seq
MIRT2521714	hsa-miR-186	CLIP-seq
MIRT2521715	hsa-miR-2114	CLIP-seq
MIRT2521716	hsa-miR-298	CLIP-seq
MIRT2217843	hsa-miR-3065-5p	CLIP-seq
MIRT2521717	hsa-miR-30a	CLIP-seq
MIRT2521718	hsa-miR-30b	CLIP-seq
MIRT2521719	hsa-miR-30c	CLIP-seq
MIRT2521720	hsa-miR-30d	CLIP-seq
MIRT2521721	hsa-miR-30e	CLIP-seq
MIRT2428433	hsa-miR-31	CLIP-seq
MIRT2521722	hsa-miR-3121-3p	CLIP-seq
MIRT2521723	hsa-miR-3133	CLIP-seq
MIRT2521724	hsa-miR-3146	CLIP-seq
MIRT2521725	hsa-miR-3158-5p	CLIP-seq
MIRT2521726	hsa-miR-3161	CLIP-seq
MIRT2521727	hsa-miR-3171	CLIP-seq
MIRT2521728	hsa-miR-3173-3p	CLIP-seq
MIRT2521729	hsa-miR-3198	CLIP-seq
MIRT2521730	hsa-miR-323-5p	CLIP-seq
MIRT2521731	hsa-miR-3613-3p	CLIP-seq
MIRT2521732	hsa-miR-3646	CLIP-seq
MIRT2521733	hsa-miR-3677-5p	CLIP-seq
MIRT2521734	hsa-miR-3682-3p	CLIP-seq
MIRT2521735	hsa-miR-3686	CLIP-seq
MIRT2428434	hsa-miR-3688-5p	CLIP-seq
MIRT2521736	hsa-miR-3917	CLIP-seq
MIRT2521737	hsa-miR-3919	CLIP-seq
MIRT2521738	hsa-miR-3978	CLIP-seq
MIRT1982869	hsa-miR-4275	CLIP-seq
MIRT2521739	hsa-miR-4309	CLIP-seq
MIRT2521740	hsa-miR-4310	CLIP-seq
MIRT2521741	hsa-miR-4418	CLIP-seq
MIRT2521742	hsa-miR-4419a	CLIP-seq
MIRT2521743	hsa-miR-4426	CLIP-seq
MIRT955340	hsa-miR-4432	CLIP-seq
MIRT2521744	hsa-miR-4450	CLIP-seq
MIRT2521745	hsa-miR-448	CLIP-seq
MIRT2521746	hsa-miR-4483	CLIP-seq
MIRT2521747	hsa-miR-4490	CLIP-seq
MIRT2521748	hsa-miR-4510	CLIP-seq
MIRT2521749	hsa-miR-4525	CLIP-seq
MIRT2521750	hsa-miR-4540	CLIP-seq
MIRT2521751	hsa-miR-4645-3p	CLIP-seq
MIRT2521752	hsa-miR-4647	CLIP-seq
MIRT2521753	hsa-miR-4653-3p	CLIP-seq
MIRT2521754	hsa-miR-4662b	CLIP-seq
MIRT2521755	hsa-miR-4665-5p	CLIP-seq
MIRT2521756	hsa-miR-4668-3p	CLIP-seq
MIRT2521757	hsa-miR-4694-3p	CLIP-seq
MIRT955344	hsa-miR-4696	CLIP-seq
MIRT2521758	hsa-miR-4698	CLIP-seq
MIRT2521759	hsa-miR-4699-3p	CLIP-seq
MIRT2521760	hsa-miR-4719	CLIP-seq
MIRT2521761	hsa-miR-4723-5p	CLIP-seq
MIRT2521762	hsa-miR-4739	CLIP-seq
MIRT2521763	hsa-miR-4742-3p	CLIP-seq
MIRT2521764	hsa-miR-4744	CLIP-seq
MIRT2521765	hsa-miR-4756-5p	CLIP-seq
MIRT2521766	hsa-miR-4773	CLIP-seq
MIRT2521767	hsa-miR-4779	CLIP-seq
MIRT2521768	hsa-miR-4786-5p	CLIP-seq
MIRT2521769	hsa-miR-4795-3p	CLIP-seq
MIRT2521770	hsa-miR-499-5p	CLIP-seq
MIRT2428435	hsa-miR-499a-5p	CLIP-seq
MIRT2521771	hsa-miR-500a	CLIP-seq
MIRT2521772	hsa-miR-509-3-5p	CLIP-seq
MIRT2521773	hsa-miR-509-5p	CLIP-seq
MIRT2521774	hsa-miR-511	CLIP-seq
MIRT2521775	hsa-miR-520a-5p	CLIP-seq
MIRT2521776	hsa-miR-522	CLIP-seq
MIRT2521777	hsa-miR-525-5p	CLIP-seq
MIRT1982870	hsa-miR-548a-5p	CLIP-seq
MIRT1982871	hsa-miR-548ab	CLIP-seq
MIRT2521778	hsa-miR-548ae	CLIP-seq
MIRT2521779	hsa-miR-548aj	CLIP-seq
MIRT1982872	hsa-miR-548ak	CLIP-seq
MIRT2521780	hsa-miR-548am	CLIP-seq
MIRT1982873	hsa-miR-548b-5p	CLIP-seq
MIRT2521781	hsa-miR-548c-3p	CLIP-seq
MIRT1982874	hsa-miR-548c-5p	CLIP-seq
MIRT1982875	hsa-miR-548d-5p	CLIP-seq
MIRT2521782	hsa-miR-548g	CLIP-seq
MIRT1982876	hsa-miR-548h	CLIP-seq
MIRT1982877	hsa-miR-548i	CLIP-seq
MIRT1982878	hsa-miR-548j	CLIP-seq
MIRT1982879	hsa-miR-548k	CLIP-seq
MIRT1982880	hsa-miR-548l	CLIP-seq
MIRT2521783	hsa-miR-548q	CLIP-seq
MIRT1982881	hsa-miR-548w	CLIP-seq
MIRT2521784	hsa-miR-548x	CLIP-seq
MIRT1982882	hsa-miR-548y	CLIP-seq
MIRT1982883	hsa-miR-559	CLIP-seq
MIRT2521785	hsa-miR-582-3p	CLIP-seq
MIRT2521786	hsa-miR-625	CLIP-seq
MIRT2521787	hsa-miR-630	CLIP-seq
MIRT2521788	hsa-miR-656	CLIP-seq
MIRT2521789	hsa-miR-769-5p	CLIP-seq
MIRT2521790	hsa-miR-876-3p	CLIP-seq
MIRT1982884	hsa-miR-944	CLIP-seq
MIRT2521708	hsa-miR-1179	CLIP-seq
MIRT2521709	hsa-miR-1275	CLIP-seq
MIRT2521710	hsa-miR-127-5p	CLIP-seq
MIRT2521711	hsa-miR-1293	CLIP-seq
MIRT2521712	hsa-miR-1321	CLIP-seq
MIRT2521713	hsa-miR-142-3p	CLIP-seq
MIRT2521714	hsa-miR-186	CLIP-seq
MIRT2521715	hsa-miR-2114	CLIP-seq
MIRT2521716	hsa-miR-298	CLIP-seq
MIRT2217843	hsa-miR-3065-5p	CLIP-seq
MIRT2521717	hsa-miR-30a	CLIP-seq
MIRT2521718	hsa-miR-30b	CLIP-seq
MIRT2521719	hsa-miR-30c	CLIP-seq
MIRT2521720	hsa-miR-30d	CLIP-seq
MIRT2521721	hsa-miR-30e	CLIP-seq
MIRT2428433	hsa-miR-31	CLIP-seq
MIRT2521722	hsa-miR-3121-3p	CLIP-seq
MIRT2521723	hsa-miR-3133	CLIP-seq
MIRT2521724	hsa-miR-3146	CLIP-seq
MIRT2521725	hsa-miR-3158-5p	CLIP-seq
MIRT2521726	hsa-miR-3161	CLIP-seq
MIRT2521727	hsa-miR-3171	CLIP-seq
MIRT2521728	hsa-miR-3173-3p	CLIP-seq
MIRT2521729	hsa-miR-3198	CLIP-seq
MIRT2521730	hsa-miR-323-5p	CLIP-seq
MIRT2521731	hsa-miR-3613-3p	CLIP-seq
MIRT2521732	hsa-miR-3646	CLIP-seq
MIRT2521733	hsa-miR-3677-5p	CLIP-seq
MIRT2521734	hsa-miR-3682-3p	CLIP-seq
MIRT2521735	hsa-miR-3686	CLIP-seq
MIRT2428434	hsa-miR-3688-5p	CLIP-seq
MIRT2521736	hsa-miR-3917	CLIP-seq
MIRT2521737	hsa-miR-3919	CLIP-seq
MIRT2521738	hsa-miR-3978	CLIP-seq
MIRT955338	hsa-miR-409-3p	CLIP-seq
MIRT1982869	hsa-miR-4275	CLIP-seq
MIRT2521739	hsa-miR-4309	CLIP-seq
MIRT2521740	hsa-miR-4310	CLIP-seq
MIRT2521741	hsa-miR-4418	CLIP-seq
MIRT2521742	hsa-miR-4419a	CLIP-seq
MIRT2521743	hsa-miR-4426	CLIP-seq
MIRT955340	hsa-miR-4432	CLIP-seq
MIRT2521744	hsa-miR-4450	CLIP-seq
MIRT2521745	hsa-miR-448	CLIP-seq
MIRT2521746	hsa-miR-4483	CLIP-seq
MIRT2521747	hsa-miR-4490	CLIP-seq
MIRT2521748	hsa-miR-4510	CLIP-seq
MIRT2521749	hsa-miR-4525	CLIP-seq
MIRT2679858	hsa-miR-4528	CLIP-seq
MIRT2521750	hsa-miR-4540	CLIP-seq
MIRT2521751	hsa-miR-4645-3p	CLIP-seq
MIRT2521752	hsa-miR-4647	CLIP-seq
MIRT2521753	hsa-miR-4653-3p	CLIP-seq
MIRT2521754	hsa-miR-4662b	CLIP-seq
MIRT2521755	hsa-miR-4665-5p	CLIP-seq
MIRT2521756	hsa-miR-4668-3p	CLIP-seq
MIRT2521757	hsa-miR-4694-3p	CLIP-seq
MIRT955344	hsa-miR-4696	CLIP-seq
MIRT2521758	hsa-miR-4698	CLIP-seq
MIRT2521759	hsa-miR-4699-3p	CLIP-seq
MIRT2521760	hsa-miR-4719	CLIP-seq
MIRT2521761	hsa-miR-4723-5p	CLIP-seq
MIRT2521762	hsa-miR-4739	CLIP-seq
MIRT2521763	hsa-miR-4742-3p	CLIP-seq
MIRT2521764	hsa-miR-4744	CLIP-seq
MIRT2521765	hsa-miR-4756-5p	CLIP-seq
MIRT2521767	hsa-miR-4779	CLIP-seq
MIRT2521768	hsa-miR-4786-5p	CLIP-seq
MIRT2521769	hsa-miR-4795-3p	CLIP-seq
MIRT2521770	hsa-miR-499-5p	CLIP-seq
MIRT2428435	hsa-miR-499a-5p	CLIP-seq
MIRT2521771	hsa-miR-500a	CLIP-seq
MIRT2521772	hsa-miR-509-3-5p	CLIP-seq
MIRT2521773	hsa-miR-509-5p	CLIP-seq
MIRT2521774	hsa-miR-511	CLIP-seq
MIRT2521775	hsa-miR-520a-5p	CLIP-seq
MIRT2521776	hsa-miR-522	CLIP-seq
MIRT2521777	hsa-miR-525-5p	CLIP-seq
MIRT1982870	hsa-miR-548a-5p	CLIP-seq
MIRT1982871	hsa-miR-548ab	CLIP-seq
MIRT2521778	hsa-miR-548ae	CLIP-seq
MIRT2521779	hsa-miR-548aj	CLIP-seq
MIRT1982872	hsa-miR-548ak	CLIP-seq
MIRT2521780	hsa-miR-548am	CLIP-seq
MIRT1982873	hsa-miR-548b-5p	CLIP-seq
MIRT2521781	hsa-miR-548c-3p	CLIP-seq
MIRT1982874	hsa-miR-548c-5p	CLIP-seq
MIRT1982875	hsa-miR-548d-5p	CLIP-seq
MIRT2521782	hsa-miR-548g	CLIP-seq
MIRT1982876	hsa-miR-548h	CLIP-seq
MIRT1982877	hsa-miR-548i	CLIP-seq
MIRT1982878	hsa-miR-548j	CLIP-seq
MIRT1982879	hsa-miR-548k	CLIP-seq
MIRT1982880	hsa-miR-548l	CLIP-seq
MIRT2521783	hsa-miR-548q	CLIP-seq
MIRT1982881	hsa-miR-548w	CLIP-seq
MIRT2521784	hsa-miR-548x	CLIP-seq
MIRT1982882	hsa-miR-548y	CLIP-seq
MIRT2679859	hsa-miR-556-3p	CLIP-seq
MIRT1982883	hsa-miR-559	CLIP-seq
MIRT2521785	hsa-miR-582-3p	CLIP-seq
MIRT2679860	hsa-miR-616	CLIP-seq
MIRT2521786	hsa-miR-625	CLIP-seq
MIRT2521787	hsa-miR-630	CLIP-seq
MIRT2521788	hsa-miR-656	CLIP-seq
MIRT2521789	hsa-miR-769-5p	CLIP-seq
MIRT2521790	hsa-miR-876-3p	CLIP-seq
MIRT1982884	hsa-miR-944	CLIP-seq

Show/Hide all (8)

GO ID	Ontology	Definition	Evidence
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
GO:0006897	Process	Endocytosis	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA

MIM	HGNC	e!Ensembl
609922	29144	ENSG00000115504

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
MKQYASPMPTQTDVKLKFKPLSKKVVSAALQFSLSCIFLREGKATDEDMQSLASLMSMKQ
ADIGNLDDFEEDNEDDDENRVNQEEKAAKITEIVNQLNALSSLDEDQDDCIKQANMRSAK
SASSSEELINKLNFLDEAEKDLATVNSNPFDDPDAAELNPFGDPDSEEPITETASPRKTE
DSFYNNSYNPFKEVQTPQYLNPFDEPEAFVTIKDSPPQSTKRKNIRPVDMSKYLYADSSK
TEEEELDESNPFYEPKSTPPPNNLVNPVQELETERRVKRKAPAPPVLSPKTGVLNENTVS
AGKDLSTSPKPSPIPSPVLGRKPNASQSLLVWCKEVTKNYRGVKITNFTTSWRNGLSFCA
ILHHFRPDLIDYKSLNPQDIKENNKKAYDGFASIGISRLLEPSDMVLLAIPDKLTVMTYL
YQIRAHFSGQELNVVQIEENSSKSTYKVGNYETDTNSSVDQEKFYAELSDLKREPELQQP
ISGAVDFLSQDDSVFVNDSGVGESESEHQTPDDHLSPSTASPYCRRTKSDTEPQKSQQSS
GRTSGSDDPGICSNTDSTQAQVLLGKKRLLKAETLELSDLYVSDKKKDMSPPFICEETDE
QKLQTLDIGSNLEKEKLENSRSLECRSDPESPIKKTSLSPTSKLGYSYSRDLDLAKKKHA
SLRQTESDPDADRTTLNHADHSSKIVQHRLLSRQEELKERARVLLEQARRDAALKAGNKH
NTNTATPFCNRQLSDQQDEERRRQLRERARQLIAEARSGVKMSELPSYGEMAAEKLKERS
KASGDENDNIEIDTNEEIPEGFVVGGGDELTNLENDLDTPEQNSKLVDLKLKKLLEVQPQ
VANSPSSAAQKAVTESSEQDMKSGTEDLRTERLQKTTERFRNPVVFSKDSTVRKTQLQSF
SQYIENRPEMKRQRSIQEDTKKGNEEKAAITETQRKPSEDEVLNKGFKDTSQYVVGELAA
LENEQKQIDTRAALVEKRLRYLMDTGRNTEEEEAMMQEWFMLVNKKNALIRRMNQLSLLE
KEHDLERRYELLNRELRAMLAIEDWQKTEAQKRREQLLLDELVALVNKRDALVRDLDAQE
KQAEEEDEHLERTLEQNKGKMAKKEEKCVLQ

Sequence length

1231

Interactions

View interactions

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
EHBP1-related disorder	Uncertain significance; Likely benign; Benign	rs721048, rs77187983, rs140508263, rs17432615, rs139562408, rs192792364, rs530128518, rs764601328, rs150215775	RCV005364863 RCV003929111 RCV003904144 RCV003982479 RCV003967305 RCV003919561 RCV003941594 RCV003972312 RCV003962199
Myoepithelial tumor	Uncertain significance	rs2466651133	RCV002463928
Prostate cancer, hereditary, 12	Uncertain significance	rs721048	RCV000001429

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	32295536
Cholangiocarcinoma	Associate	32897609
Colorectal Neoplasms	Associate	40004500
Lung Neoplasms	Associate	35717579
Lymphoma	Associate	33883344
Lymphoma B Cell	Associate	33883344
Neoplasms	Associate	26773531
Prostatic Neoplasms	Associate	18264098, 19318432, 23593118, 26773531, 32295536, 40004500
Urinary Bladder Neoplasms	Associate	37950728

EHBP1 (EH domain binding protein 1)