EFNB1 - ephrin B1 Gene

Also Known as CFND; CFNS; EFB1; EFL3; EPLG2; Elk-L; LERK2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1947

About EFNB1

Cytogenetic location: Xq13.1 Genomic coordinates (GRCh38): X:68,829,021-68,842,160 (from NCBI)

This gene has 1 transcript (splice variant), 234 orthologues, 7 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 27.2), placenta (RPKM 17.2) and 23 other tissues.

Summary

The protein encoded by this gene is a type I membrane protein and a ligand of Eph-related Receptor Tyrosine Kinases. It may play a role in cell adhesion and function in the development or maintenance of the nervous system. [provided by RefSeq, Jul 2008]

EFNB1 Products (1)

mRNA Protein Name
NM_004429.5 NP_004420.1 ephrin-B1 precursor

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Verweise Source
enables ephrin receptor binding IDA
IDA: Inferred from direct assay
23711177 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9883737 GOA
Biological Process GO Annotation Evidence Verweise Source
acts upstream of positive effect regulation of autophagosome assembly IDA
IDA: Inferred from direct assay
33280498 GOA
Cellular Component GO Annotation Evidence Verweise Source
is active in cell surface IDA
IDA: Inferred from direct assay
12970314 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EFNB1 Protein Structure

Ephrin

Ephrin: Ephrin (29 - 166)

  • 0
  • 100
  • 200
  • 300
  • 346 a.a.
Protein Preferred Names Protein Names

ephrin-B1

  • ELK ligand

EFNB1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
EFNB1 P98172 ANKRD46 Homo sapiens Q86W74-2
Validated Y2H
32296183
Intra
EFNB1 P98172 ERBB2 Homo sapiens P04626
Anti Bait CoIP
22279592
Intra
EFNB1 P98172 ERBB2 Homo sapiens P04626
Anti Tag CoIP
33961781
Intra
EFNB1 P98172 ERBB2 Homo sapiens P04626
Confocal
22279592
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant EFNB1 Proteins

Art. -Nr. Produktname Accession Reinheit
HY-P70402 Ephrin-B1/EFNB1 Protein, Human (HEK293, His) P98172 (L28-G232) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P700609 Ephrin-B1/EFNB1 Protein, Human (HEK293, C-hFc) NP_004420.1 (L28-K237) ≥ 95%, as determined by reducing SDS-PAGE.

EFNB1 Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P810870 Phospho-Ephrin B1 (Tyr317) Antibody WB, IHC-P Human, Mouse, Rat

Related Diseases

Diseases Alias
Craniofrontonasal Syndrome

  • Craniofrontonasal Dysplasia

  • CFNS

  • Cfnd

  • Craniofrontonasal Dysostosis

  • Craniofrontonasal Dystosis

  • Dysplasia, Craniofrontonasal
Hemifacial Hyperplasia

  • Hemifacial Hypertrophy

  • Facial Asymmetry

  • Facial Hemihypertrophy

  • Asymmetric Face
Hypertelorism

  • Eyes Wide Apart

  • Eyes Widely Set

  • Hypertelorism Of Orbit

  • Ocular Hypertelorism

  • Orbital Separation Excessive
Synostosis
Craniosynostosis

  • Premature Closure Of Cranial Sutures

  • Craniostenosis

  • Craniosynostosis Syndrome

  • Cso

  • Craniosynostoses

  • Congenital Ossification Of Cranial Sutures

  • Congenital Ossification Of Sutures Of Skull

  • Craniostosis

  • Imperfect Fusion Of Skull

  • Congenital Imperfect Closure Skull

  • Imperfect Closure Skull

  • Premature Closure Cranium Sutures

  • Deficiency Of Craniofacial Axis
Non-Syndromic X-Linked Intellectual Disability 81

  • Mrx81
Myasthenic Syndrome, Congenital, 19

  • Congenital Myasthenic Syndrome 19

  • CMS19

  • Myasthenic Syndrome, Congenital, Type 19
Muenke Syndrome

  • Muenke Nonsyndromic Coronal Craniosynostosis

  • Fgfr3-Related Craniosynostosis

  • Fgfr3-Associated Coronal Synostosis

  • Coronal Craniosynostosis

  • MNKES

  • Syndrome Of Coronal Craniosynostosis

  • MNKS

  • Fgfr3-Related Isolated Coronal Synostosis

  • Muenke Non-Syndromic Coronal Craniosynostosis
Crouzon Syndrome

  • Crouzon Craniofacial Dysostosis

  • Craniofacial Dysostosis

  • Cfd1

  • Craniofacial Dysostosis Type 1

  • Crouzon Disease

  • Crouzon'S Disease

  • Craniofacial Dysostosis, Type I

  • Craniofacial Dysarthrosis

  • Craniofacial Dysostosis Syndrome

  • CS

  • Craniofacial Dysostosis Type I

  • Vogt Cephalosyndactyly
Jackson-Weiss Syndrome

  • JWS

  • Craniosynostosis, Midfacial Hypoplasia, And Foot Abnormalities

  • Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities Syndrome

  • Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities
Exposure Keratitis

  • Exposure Keratoconjunctivitis

  • Lagophthalmic Keratitis
Apert Syndrome

  • Acrocephalosyndactyly Type I

  • Acs1

  • Acrocephalosyndactylia

  • Acrocephalosyndactyly

  • Acs I

  • Apert-Crouzon Disease

  • Acrocephalosyndactyly Type 1

  • Acrocephalosyndactyly, Type I

  • Acs 1

  • Acrocephalo-Syndactyly Type 1

  • Syndactylic Oxycephaly

  • Apert'S Syndrome

  • Type I Acrocephalosyndactyly

  • APRS
Saethre-Chotzen Syndrome

  • SCS

  • Acs3

  • Acs Iii

  • Chotzen Syndrome

  • Acrocephaly, Skull Asymmetry, And Mild Syndactyly

  • Acrocephalosyndactyly Type 3

  • Acrocephalosyndactyly, Type Iii

  • Acrocephalosyndactyly Type Iii

  • Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies

  • Auralcephalosyndactyly

  • Acs 3

  • Acrocephalo-Syndactyly, Type 3

  • Blepharophimosis,Epicanthus Inversus, And Ptosis 3

  • Aural Cephalosyndactyly

  • Kurczynski-Casperson Syndrome

  • Acrocephalosyndactyly Iii

  • Dysostosis Craniofacialis With Hypertelorism

  • Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies

  • Sakati Syndrome
Beare-Stevenson Cutis Gyrata Syndrome

  • Cutis Gyrata Syndrome Of Beare And Stevenson

  • Beare-Stevenson Syndrome

  • BSTVS

  • Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome

  • Beare Stevenson Syndrome

  • Cutis Gyrata - Acanthosis Nigricans - Craniosynostosis

  • Cutis Gyrata Syndrome Of Beare-Stevenson
Diaphragm Disease

  • Abnormality Of The Diaphragm

  • Disease Of Diaphragm

  • Diaphragmatic Disorder

  • Disorder Of Diaphragm
Dysostosis

  • Dysostoses
Bone Development Disease
Pfeiffer Syndrome

  • Infectious Mononucleosis

  • Acs5

  • Craniofacial-Skeletal-Dermatologic Dysplasia

  • Acs V

  • Noack Syndrome

  • Gammaherpesviral Mononucleosis

  • Acrocephalosyndactyly Type 5

  • Pfeiffer Syndrome Type 3

  • Acrocephalosyndactyly, Type V

  • Glandular Fever

  • Pfeiffer Type Acrocephalosyndactyly

  • Pfeiffer Syndrome Type 2

  • Acrocephalosyndactylia Type V

  • Filatov'S Disease

  • Monocytic Angina

  • Mononucleosis

  • Pfeiffer'S Disease

  • Acsv

  • Acrocephalosyndactyly, Type 5

  • Craniofacial-Skeletal-Dermatologic Syndrome

  • Pfeiffer Syndrome Type 1

  • Classic Pfeiffer Syndrome

  • PS

  • Pfeiffer Syndrome Variant

  • Dysplasia, Craniofacial-Skeletal-Dermatologic

  • Pfeiffer

  • Kissing Disease

  • Infectious Adenitis

  • Pfeiffer Disease
Diaphragmatic Hernia, Congenital

  • Congenital Diaphragmatic Hernia

  • Diaphragmatic Hernia

  • Cdh

  • Congenital Diaphragmatic Defect

  • Hernia, Diaphragmatic

  • Dih

  • Hernia, Congenital Diaphragmatic

  • Hcd

  • Diaphragmatic Defect, Congenital

  • Diaphragm, Unilateral Agenesis Of

  • Hemidiaphragm, Agenesis Of

  • Diaphragmatic Hernia 1

  • Agenesis Of Hemidiaphragm

  • Unilateral Agenesis Of Diaphragm

  • Hernia Diaphragmatic

  • Hernia Diaphragmatic Congenital

  • Hernia, Diaphragmatic, Type 1

  • Hiatus Hernia

  • Oesophageal Hiatus Hernia

  • Paraoesophageal Hernia

  • Sliding Hiatus Hernia

  • Congenital Diaphragm Hernia

  • Congenital Diaphragm Defect With Hernia

  • Gross Congenital Diaphragm Defect
Orofacial Cleft

  • Cleft, Orofacial
Chromosome 2q35 Duplication Syndrome

  • Syndactyly

  • Syndactyly Type 1

  • Sdty1

  • Zygodactyly

  • Syndactyly, Type I

  • Sd1

  • Syndactyly, Type 1, With Or Without Craniosynostosis

  • Symphalangism

  • Non-Syndromic Syndactyly

  • Symphalangy

  • Webbing Of Digits

  • Syndactyly, Type 1
Non-Syndromic X-Linked Intellectual Disability

  • X-Linked Non-Syndromic Intellectual Disability

  • Non-Specific X-Linked Mental Retardation

  • X-Linked Non-Specific Intellectual Disability
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS04197 EFNB1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS17977 Efnb1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24448 Efnb1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus EFNB1 RGD RGD:2540
Mus musculus EFNB1 MGD MGI:102708
Macaca mulatta EFNB1 VGNC VGNC:72169
Bos taurus EFNB1 VGNC VGNC:28359
Felis catus EFNB1 VGNC VGNC:61749
Canis familiaris EFNB1 VGNC VGNC:40228
Others EFNB1 NCBI