Efnb1 MGI Mouse Gene Detail - MGI:102708

Symbol

Efnb1
Name

ephrin B1
Synonyms

Cek5-L, Cek5 ligand, EFL-3, Elk-L, Epl2, Eplg2, Lerk2, LERK-2, Stra1

Feature Type

protein coding gene
IDs

MGI:102708
NCBI Gene: 13641
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

ChrX:98179736-98192597 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome X, 43.22 cM, cytoband D
Mapping Data

3 experiments

SNPs within 2kb

40 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_102708	protein coding gene	ChrX:98179667-98192628 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0035935	protein coding gene	ChrX:95557309-95570147 (+)
A/J	MGP_AJ_G0035920	protein coding gene	ChrX:95610548-95623370 (+)
AKR/J	MGP_AKRJ_G0035836	protein coding gene	ChrX:98352179-98365061 (+)
BALB/cJ	MGP_BALBcJ_G0035903	protein coding gene	ChrX:94385493-94398306 (+)
C3H/HeJ	MGP_C3HHeJ_G0035612	protein coding gene	ChrX:95996617-96009433 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0036432	protein coding gene	ChrX:98477267-98492183 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0033262	protein coding gene	ChrX:93443077-93459662 (+)
CAST/EiJ	MGP_CASTEiJ_G0034899	protein coding gene	ChrX:80328043-80340882 (+)
CBA/J	MGP_CBAJ_G0035587	protein coding gene	ChrX:101499929-101512791 (+)
DBA/2J	MGP_DBA2J_G0035741	protein coding gene	ChrX:94857351-94870209 (+)
FVB/NJ	MGP_FVBNJ_G0035679	protein coding gene	ChrX:94251850-94264909 (+)
LP/J	MGP_LPJ_G0035831	protein coding gene	ChrX:96547204-96560041 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035714	protein coding gene	ChrX:105995818-106008655 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0036459	protein coding gene	ChrX:95294654-95307486 (+)
PWK/PhJ	MGP_PWKPhJ_G0034598	protein coding gene	ChrX:77970157-77983291 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0034426	protein coding gene	ChrX:81179851-81192689 (+)
WSB/EiJ	MGP_WSBEiJ_G0035038	protein coding gene	ChrX:94016913-94030173 (+)

Human Ortholog

EFNB1, ephrin B1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EFNB1, ephrin B1
Synonyms

CFND, CFNS, EFB1, EFL3, Elk-L, EPLG2, LERK2
Links

HGNC:3226

NCBI Gene ID: 1947

neXtProt AC: NX_P98172

UniProt: P98172
Chr Location

Xq13.1; chrX:68829021-68842160 (+) GRCh38

MGI Vertebrate Homology

Efnb1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: EFNB1
Gene Tree

Efnb1

Diseases

1 with Efnb1 mouse models; 2 with human EFNB1 associations

Human Disease

Mouse Models

craniofrontonasal syndrome

IDs

View 1 model

dysostosis

IDs

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

40 phenotypes from 8 alleles in 8 genetic backgrounds
26 phenotypes from multigenic genotypes
1 images
52 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	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

18
Endonuclease-mediated

1
Targeted

17
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

15 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Engineered alleles of this gene produce cranialfacial defects resulting in neonatal lethality.

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All GO Annotations

32
GO References

13

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 differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	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

1435
Tissues

433
cDNA Data

79
Literature Summary

94

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

GEISHA EFNB1

Xenbase efnb1

ZFIN efnb1

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All Sequences

38
RefSeq

2
UniProt

2
CCDS

CCDS30298.1

Ensembl

ENSMUSG00000031217 (Evidence)
NCBI Gene

13641

			Length	Strain/Species	Flank
genomic	ENSMUSG00000031217	Ensembl Gene Model \| MGI Sequence Detail	12862	C57BL/6J	± kb
transcript	ENSMUST00000052839	Ensembl \| MGI Sequence Detail	3258	Not Applicable
polypeptide	ENSMUSP00000050716	Ensembl \| MGI Sequence Detail	345	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000006921 ephrin-B1

(term hierarchy)
PDB

6P7S
InterPro Domains

IPR008972 Cupredoxin

IPR031328 Ephrin

IPR034255 Ephrin-B ectodomain

IPR019765 Ephrin, conserved site

IPR001799 Ephrin receptor-binding domain

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All nucleic 98

Genomic 6

cDNA 82

Primer pair 4

Other 6

Microarray probesets 6

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MGD-MRK-19612

Summaries

All 174

Developmental Gene Expression 94

Diseases 1

Gene Ontology 13

Phenotypes 52
Earliest

J:21114 Shao H, et al., cDNA cloning and characterization of a ligand for the Cek5 receptor protein-tyrosine kinase. J Biol Chem. 1994 Oct 28;269(43):26606-9
Latest

J:341876 Karsenty C, et al., Ephrin-B1 regulates the adult diastolic function through a late postnatal maturation of cardiomyocyte surface crests. Elife. 2023 Jan 17;12

TSS for Efnb1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr161599	ChrX:98179679-98179690 (+)	-51 bp
Tssr161600	ChrX:98179696-98179713 (+)	-31 bp
Tssr161601	ChrX:98179725-98179744 (+)	-1 bp
Tssr161602	ChrX:98179786-98179789 (+)	52 bp
Tssr161603	ChrX:98191179-98191198 (+)	11,453 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, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23