EFNA2 - ephrin A2 Gene

Homo sapiens

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

Gene ID: 1943 | Gene type: protein coding

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

EFNA2 Protein Structure

Ephrin

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04193	EFNA2 Human Pre-designed siRNA Set A		/	Unkown

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

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