EFNA2 ephrin A2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EFNA2provided by HGNC
Official Full Name: ephrin A2provided by HGNC
Primary source: HGNC:HGNC:3222
See related: Ensembl:ENSG00000099617 MIM:602756; AllianceGenome:HGNC:3222
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ELF-1; EPLG6; LERK6; HEK7-L; LERK-6
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]
Expression: Biased expression in small intestine (RPKM 3.0), colon (RPKM 2.7) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (1284227..1301431)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (1253481..1270685)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (1285872..1301430)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic variation in genes regulating skeletal muscle regeneration and tissue remodelling associated with weight loss in chronic obstructive pulmonary disease.
Title: Genetic variation in genes regulating skeletal muscle regeneration and tissue remodelling associated with weight loss in chronic obstructive pulmonary disease.
Ephrin-A2 promotes prostate cancer metastasis by enhancing angiogenesis and promoting EMT.
Title: Ephrin-A2 promotes prostate cancer metastasis by enhancing angiogenesis and promoting EMT.
Ephrin-A2 expression was correlated with Ki-67 expression in PCa patients, both at the gene scale and protein level. Our data indicate that Ephrin-A2 is a potential diagnostic and prognostic biomarker and a promising molecular therapeutic target to attenuate prostate cancer progression
Title: Diagnostic and prognostic value of tissue and circulating levels of Ephrin-A2 in prostate cancer.
these studies suggested that Kaposi's sarcoma-associated herpesvirus utilizes CIB1 as one of the key molecule(s) to coordinate and sustain the EphA2 mediated signaling involved in its entry
Title: CIB1 synergizes with EphrinA2 to regulate Kaposi's sarcoma-associated herpesvirus macropinocytic entry in human microvascular dermal endothelial cells.
High EphA2 receptor expression in colorectal cancer was associated with a worse outcome in patients treated with cetuximab-based therapy
Title: The prognostic role of ephrin A2 and endothelial growth factor receptor pathway mediators in patients with advanced colorectal cancer treated with cetuximab.
Implicate EphA2 as a novel proinflammatory mediator and potential regulator of atherosclerotic plaque development.
Title: EphA2 activation promotes the endothelial cell inflammatory response: a potential role in atherosclerosis.
The crystal structures of an A-class complex between EphA2 and ephrin-A1 and of unbound EphA2, are presented.
Title: Ligand recognition by A-class Eph receptors: crystal structures of the EphA2 ligand-binding domain and the EphA2/ephrin-A1 complex.
Elf-1 represents the first transcription factor identified to be involved in the transcriptional regulation of Fc receptor gamma
Title: Elf-1 binds to GGAA elements on the FcRgamma promoter and represses its expression.
Abnormal posttranslational mechanisms of the Elf-1 protein result in defective expression of the functional 98-kDa form of Elf-1, and consequently, the transcriptional defect of TCR zeta-chain in patients with systemic lupus erythematosus.
Title: Defective production of functional 98-kDa form of Elf-1 is responsible for the decreased expression of TCR zeta-chain in patients with systemic lupus erythematosus.
Optic nerve section in adult rat differentially regulates the expression of ephrin-A2 in the superior colliculus(SC).At 1 month, levels were upregulated across the contralateral SC giving rise to an increasing rostro-caudal gradient.
Title: Expression of ephrin-A2 in the superior colliculus and EphA5 in the retina following optic nerve section in adult rat.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ephrin receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in bone remodeling	IBA Inferred from Biological aspect of Ancestor more info
involved_in bone remodeling	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in ephrin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in ephrin receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in olfactory bulb development	IEA Inferred from Electronic Annotation more info
involved_in osteoclast differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in osteoclast differentiation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in neuromuscular junction	IEA Inferred from Electronic Annotation more info
located_in perikaryon	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in side of membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ephrin-A2

Names: HEK7 ligand; eph-related receptor tyrosine kinase ligand 6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.