Ehbp1 MGI Mouse Gene Detail - MGI:2667252 - EH domain binding protein 1

Symbol

Ehbp1
Name

EH domain binding protein 1
Synonyms

Flj21950, KIAA0903-like

Feature Type

protein coding gene
IDs

MGI:2667252
NCBI Gene: 216565
Alliance

gene page
Transcription Start Sites

13 TSS

Sequence Map

Chr11:21955825-22237086 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 14.10 cM
Mapping Data

2 experiments

SNPs within 2kb

1282 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2667252	protein coding gene	Chr11:21955825-22292292 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0018076	protein coding gene	Chr11:19650997-20010928 (-)
A/J	MGP_AJ_G0018049	protein coding gene	Chr11:18918774-19263793 (-)
AKR/J	MGP_AKRJ_G0018013	protein coding gene	Chr11:19604161-19950777 (-)
BALB/cJ	MGP_BALBcJ_G0018017	protein coding gene	Chr11:19056317-19396867 (-)
C3H/HeJ	MGP_C3HHeJ_G0017831	protein coding gene	Chr11:19483785-19836542 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0018469	protein coding gene	Chr11:20516467-20866804 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016127	protein coding gene	Chr11:17874021-18190467 (-)
CAST/EiJ	MGP_CASTEiJ_G0017392	protein coding gene	Chr11:19511625-19868713 (-)
CBA/J	MGP_CBAJ_G0017805	protein coding gene	Chr11:21408712-21776076 (-)
DBA/2J	MGP_DBA2J_G0017915	protein coding gene	Chr11:18870919-19206034 (-)
FVB/NJ	MGP_FVBNJ_G0017907	protein coding gene	Chr11:18639000-18979152 (-)
LP/J	MGP_LPJ_G0017986	protein coding gene	Chr11:19806867-20157054 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017933	protein coding gene	Chr11:21849663-22278298 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018510	protein coding gene	Chr11:19703144-20051382 (-)
PWK/PhJ	MGP_PWKPhJ_G0017173	protein coding gene	Chr11:18898704-19231766 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0016970	protein coding gene	Chr11:19453189-19747514 (-)
WSB/EiJ	MGP_WSBEiJ_G0017446	protein coding gene	Chr11:19336130-19690457 (-)

Human Ortholog

EHBP1, EH domain binding protein 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EHBP1, EH domain binding protein 1
Synonyms

HPC12, NACSIN
Links

HGNC:29144

NCBI Gene ID: 23301

neXtProt AC: NX_Q8NDI1

UniProt: Q8NDI1
Chr Location

2p15; chr2:62673851-63046487 (+) GRCh38.p7

Alliance of Genome Resources

Ehbp1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: EHBP1
Gene Tree

Ehbp1

Diseases

1 with human EHBP1 associations

				Human Disease	Mouse Models
				prostate cancer IDs prostate cancer DOID:10283 DOID:514 ICD10CM:C61 ICD9CM:185 KEGG:05215 MESH:D011471 NCI:C3343 NCI:C7378 OMIM:176807 OMIM:300147 OMIM:300704 OMIM:601518 OMIM:602759 OMIM:608656 OMIM:608658 OMIM:609299 OMIM:609558 OMIM:610321 OMIM:610997 OMIM:611100 OMIM:611868 OMIM:611928 OMIM:611955 OMIM:611958 OMIM:611959 ORDO:1331 UMLS_CUI:C0033578 UMLS_CUI:C0376358

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
14 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

11
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

5
Targeted

4
Genomic Mutations

1 involving Ehbp1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

48 strains or lines available

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All GO Annotations

12
GO References

4

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

672
cDNA Data

7
Literature Summary

2

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ehbp1

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Ehbp1 interacts with 221 markers (Mir1b, Mir7-1, Mir7-2, ...) View All

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All Sequences

123
RefSeq

80
UniProt

2
CCDS

CCDS24469.1, CCDS56762.1

Ensembl

ENSMUSG00000042302 (Evidence)
NCBI Gene

216565

Representative Sequences				Length	Strain/Species	Flank
	genomic	216565	NCBI Gene Model \| MGI Sequence Detail	281262	C57BL/6J	± kb

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UniProt

2 Sequences
Protein Ontology

PR:000006941 EH domain-binding protein 1

(term hierarchy)
InterPro Domains

IPR022735 bMERB domain

IPR001715 Calponin homology domain

IPR036872 CH domain superfamily

IPR029944 EH domain-binding protein 1

IPR019448 NT-type C2 domain

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All nucleic 7

cDNA 7

Microarray probesets 3

Summaries

All 38

Developmental Gene Expression 2

Gene Ontology 4

Phenotypes 14
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:310882 Urbanek ME, et al., Genetic predisposition to tinnitus in the UK Biobank population. Sci Rep. 2021 Sep 13;11(1):18150

TSS for Ehbp1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr107096	Chr11:22237069-22237090 (-)	6 bp
Tssr107095	Chr11:22236995-22237005 (-)	86 bp
Tssr107094	Chr11:22236923-22236969 (-)	140 bp
Tssr107093	Chr11:22236821-22236865 (-)	243 bp
Tssr107092	Chr11:22236805-22236818 (-)	274 bp
Tssr107091	Chr11:22196684-22196690 (-)	40,399 bp
Tssr107090	Chr11:22121406-22121426 (-)	115,670 bp
Tssr107089	Chr11:22121343-22121368 (-)	115,730 bp
Tssr107088	Chr11:22088803-22088808 (-)	148,280 bp
Tssr107087	Chr11:22008468-22008471 (-)	228,616 bp
Tssr107086	Chr11:21998026-21998031 (-)	239,057 bp
Tssr107085	Chr11:21957432-21957452 (-)	279,644 bp
Tssr107084	Chr11:21957185-21957206 (-)	279,890 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 05/17/2022 MGI 6.19