EFNA5 ephrin A5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EFNA5provided by HGNC
Official Full Name: ephrin A5provided by HGNC
Primary source: HGNC:HGNC:3225
See related: Ensembl:ENSG00000184349 MIM:601535; AllianceGenome:HGNC:3225
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: AF1; EFL5; RAGS; EPLG7; GLC1M; LERK7
Summary: Ephrin-A5, a member of the ephrin gene family, prevents axon bundling in cocultures of cortical neurons with astrocytes, a model of late stage nervous system development and differentiation. 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. EPH receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). 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. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in skin (RPKM 2.4), brain (RPKM 1.7) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q21.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (107376894..107670937, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (107879857..108173778, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (106712595..107006638, complement)

Chromosome 5 - NC_000005.10 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
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?

Aggressive and recurrent ovarian cancers upregulate ephrinA5, a non-canonical effector of EphA2 signaling duality.
Title: Aggressive and recurrent ovarian cancers upregulate ephrinA5, a non-canonical effector of EphA2 signaling duality.
PIWIL1 interacting RNA piR-017061 inhibits pancreatic cancer growth via regulating EFNA5.
Title: PIWIL1 interacting RNA piR-017061 inhibits pancreatic cancer growth via regulating EFNA5.
Polycomb-mediated repression of EphrinA5 promotes growth and invasion of glioblastoma.
Title: Polycomb-mediated repression of EphrinA5 promotes growth and invasion of glioblastoma.
EFNA5, BAHD1 and PPP2R5E were particularly good candidates for novel disease loci
Title: Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders.
These results indicate a novel mechanism of ephrin-Eph signaling independent of direct cell contact and proteolytic cleavage and suggest the participation of EphB2(+) extracellular vesicles in neural development and synapse physiology.
Title: Exosomes mediate cell contact-independent ephrin-Eph signaling during axon guidance.
MiR-96 and miR-182 are upregulated in hepatocellular carcinoma and negatively associated with ephrin A5 expression.
Title: OncomiR miR-96 and miR-182 promote cell proliferation and invasion through targeting ephrinA5 in hepatocellular carcinoma.
the structure of the ligand-binding domain of the EphA3 receptor in complex with its preferred ligand, ephrin-A5, is reported.
Title: Distinctive Structure of the EphA3/Ephrin-A5 Complex Reveals a Dual Mode of Eph Receptor Interaction for Ephrin-A5.
The genetic variations c.668C>T (rs201008479), c.102C>T (rs199980747) and c.-27C>G (rs200187971) may present an additional genetic risk factor for age-related cataract in the Chinese population.
Title: Mutational screening of EFNA5 in Chinese age-related cataract patients.
Data indicate that ephrin-A5 binding directly facilitates the formation of Eph/ephrin clusters by inducing conformational changes in the ligand-binding domain (LBD) of EphA4.
Title: Insights into Eph receptor tyrosine kinase activation from crystal structures of the EphA4 ectodomain and its complex with ephrin-A5.
Transgenic ephrin-A5 plays a critical role in postnatal lens fiber organization to maintain lens transparency: cells in the ephrin-A5-deficient lens are severely disorganized
Title: Further analysis of the lens of ephrin-A5-/- mice: development of postnatal defects.

Submit: New GeneRIF Correction See all GeneRIFs (22)

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

EBI GWAS Catalog

Description
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Markers

WI-18120 (e-PCR)
- UniSTS:80645

RH16297 (e-PCR)
- UniSTS:91910

RH12376 (e-PCR)
- UniSTS:25370

D5S1688E (e-PCR)
- UniSTS:151076

SHGC-142620 (e-PCR)
- UniSTS:171556

SHGC-145540 (e-PCR)
- UniSTS:174638

D5S1443 (e-PCR)
- UniSTS:41524

SHGC-142233 (e-PCR)
- UniSTS:171336

SHGC-106401 (e-PCR)
- UniSTS:169804

SHGC-82929 (e-PCR)
- UniSTS:96101

EFNA5 (e-PCR)
- UniSTS:504935

GDB:315565 (e-PCR)
- UniSTS:156532

EFNA5 (e-PCR)
- UniSTS:497541

A006T32 (e-PCR)
- UniSTS:81033

D5S1890 (e-PCR)
- UniSTS:71067

RH78310 (e-PCR)
- UniSTS:10670

SGC34450 (e-PCR)
- UniSTS:21695

STS-D29229 (e-PCR)
- UniSTS:49855

EFNA5_1540 (e-PCR)
- UniSTS:277188

EFNA5_v533 (e-PCR)
- UniSTS:277188

NoName (e-PCR)
- UniSTS:490445

D5S475 (e-PCR), detects polymorphism
- UniSTS:25810

WI-15986 (e-PCR)
- UniSTS:34784

A004F05 (e-PCR)
- UniSTS:56308

RH36350 (e-PCR)
- UniSTS:34038

SHGC-173148 (e-PCR)
- UniSTS:185334

NoName (e-PCR)
- UniSTS:482297

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chemorepellent activity	IEA Inferred from Electronic Annotation more info
enables ephrin receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables ephrin receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables neurotrophin TRKA receptor binding	NAS Non-traceable Author Statement more info	PubMed
enables neurotrophin TRKB receptor binding	NAS Non-traceable Author Statement more info	PubMed
enables neurotrophin TRKC receptor binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane receptor protein tyrosine kinase activator activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
NOT involved_in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to follicle-stimulating hormone stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to forskolin	IEA Inferred from Electronic Annotation more info
involved_in collateral sprouting	IEA Inferred from Electronic Annotation more info
involved_in ephrin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in ephrin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative chemotaxis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of substrate adhesion-dependent cell spreading	IDA Inferred from Direct Assay more info	PubMed
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of collateral sprouting	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of peptidyl-tyrosine phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein phosphorylation	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of synapse assembly	IEA Inferred from Electronic Annotation more info
involved_in regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of GTPase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of actin cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of cell morphogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of focal adhesion assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of insulin secretion involved in cellular response to glucose stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of microtubule cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
involved_in retinal ganglion cell axon guidance	IEA Inferred from Electronic Annotation more info
involved_in synaptic membrane adhesion	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
located_in adherens junction	IEA Inferred from Electronic Annotation more info
located_in basement membrane	IEA Inferred from Electronic Annotation more info
located_in caveola	IEA Inferred from Electronic Annotation more info
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ephrin-A5

Names: AL-1; LERK-7; eph-related receptor tyrosine kinase ligand 7

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.

mRNA and Protein(s)

NM_001410773.1 → NP_001397702.1 ephrin-A5 isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AC008952, AC024587

Consensus CDS

CCDS93759.1

UniProtKB/TrEMBL

D6RDV5

Related

ENSP00000426989.1, ENST00000509503.1
NM_001962.3 → NP_001953.1 ephrin-A5 isoform 1 precursor

See identical proteins and their annotated locations for NP_001953.1

Status: REVIEWED

Source sequence(s)

AC008952, AC024587

Consensus CDS

CCDS4097.1

UniProtKB/Swiss-Prot

P52803

Related

ENSP00000328777.6, ENST00000333274.11

Conserved Domains (1) summary

cd10425
Location:30 → 159

Ephrin-A_Ectodomain; Ectodomain of Ephrin A

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

107376894..107670937 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011543250.4 → XP_011541552.1 ephrin-A5 isoform X1

Conserved Domains (1) summary

cd10425
Location:24 → 141

Ephrin-A_Ectodomain; Ectodomain of Ephrin A