2. Gene
  3. EFNB1 - ephrin B1 Gene

EFNB1 - ephrin B1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 1947 | Gene type: protein coding

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

EFNB1 Protein Structure

Ephrin

Ephrin: Ephrin (29 - 166)

  • 0
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  • 346 a.a.
Protein Preferred Names Protein Names

ephrin-B1

ELK ligand

Recombinant EFNB1 Proteins

Cat. No. Product Name Accession Purity
HY-P70402 Ephrin-B1/EFNB1 Protein, Human (HEK293, His) P98172 (L28-G232) ≥95%
HY-P73026 Ephrin-B1/EFNB1 Protein, Human (HEK293, His-Fc) P98172 (L28-K237) ≥95%
HY-P700609 Ephrin-B1/EFNB1 Protein, Human (HEK293, C-hFc) NP_004420.1 (L28-K237) ≥95%

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS04197 EFNB1 Human Pre-designed siRNA Set A / 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