EFNA2 - ephrin A2 Gene

Also Known as ELF-1; EPLG6; LERK6; HEK7-L; LERK-6

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1943

About EFNA2

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:1,284,227-1,301,431 (from NCBI)

This gene has 1 transcript (splice variant), 248 orthologues and 7 paralogues. Biased expression in small intestine (RPKM 3.0), colon (RPKM 2.7) and 5 other tissues.

Summary

This gene encodes a member of the ephrin family. The protein is composed of a signal sequence, a receptor-binding region, a spacer region, and a hydrophobic region. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. Based on their structures and sequence relationships, Ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. Posttranslational modifications determine whether this protein localizes to the nucleus or the cytoplasm. [provided by RefSeq, Jul 2008]

EFNA2 Products (1)

mRNA Protein Name
NM_001405.4 NP_001396.2 ephrin-A2 precursor
Molecular Function GO Annotation Evidence Références Source
enables protein binding IPI
IPI: Inferred from physical interaction
19836338 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

EFNA2 Protein Structure

Ephrin

Ephrin: Ephrin (32 - 174)

  • 0
  • 100
  • 200
  • 213 a.a.
Protein Preferred Names Protein Names

ephrin-A2

  • HEK7 ligand

Related Diseases

Diseases Alias
Craniofrontonasal Syndrome
  • Craniofrontonasal Dysplasia

  • CFNS

  • Cfnd

  • Craniofrontonasal Dysostosis

  • Craniofrontonasal Dystosis

  • Dysplasia, Craniofrontonasal

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

Oral Hairy Leukoplakia
  • Hairy Leukoplakia

  • Leukoplakia, Hairy

  • Hairy Leucoplakia

Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
  • Wilson-Turner Syndrome

  • WTS

  • Mrxs6

  • X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome

  • Mrxswt

  • Wilson-Turner X-Linked Mental Retardation Syndrome

  • Mental Retardation, X-Linked, Syndromic 6

  • Mental Retardation, X-Linked, With Gynecomastia And Obesity

  • Intellectual Disability, X-Linked, Syndromic 6

  • Intellectual Disability, X-Linked, With Gynecomastia And Obesity

  • Wilson Turner Intellectual Disability Syndrome

  • X-Linked Intellectual Disability - Gynecomastia - Obesity

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

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

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

Orthologs Information

Species Symbol Source ID
Bos taurus EFNA2 VGNC VGNC:28356
Felis catus EFNA2 VGNC VGNC:102579
Macaca mulatta EFNA2 VGNC VGNC:109620
Mus musculus EFNA2 MGD MGI:102707
Rattus norvegicus EFNA2 RGD RGD:620389
Others EFNA2 NCBI