EPHA8 EPH receptor A8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EPHA8provided by HGNC
Official Full Name: EPH receptor A8provided by HGNC
Primary source: HGNC:HGNC:3391
See related: Ensembl:ENSG00000070886 MIM:176945; AllianceGenome:HGNC:3391
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: EEK; EK3; HEK3
Summary: This gene encodes a member of the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. The protein encoded by this gene functions as a receptor for ephrin A2, A3 and A5 and plays a role in short-range contact-mediated axonal guidance during development of the mammalian nervous system. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.12

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (22563489..22603595)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (22387196..22428607)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (22889982..22930088)

Chromosome 1 - NC_000001.11 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?

EphA8 inhibits cell apoptosis via AKT signaling and is associated with poor prognosis in breast cancer.
Title: EphA8 inhibits cell apoptosis via AKT signaling and is associated with poor prognosis in breast cancer.
EphA8 knockdown also decreased expression of the protease ADAM10
Title: EphA8 acts as an oncogene and contributes to poor prognosis in gastric cancer via regulation of ADAM10.
Q-PCR and IHC staining revealed that EphA8 was highly expressed in OTSCC tissues, especially in advanced stage OTSCC tissues. Kaplan-Meier curve showed that high EphA8 expression was significantly associated with poor prognosis.
Title: EphA8 is a Prognostic Factor for Oral Tongue Squamous Cell Carcinoma.
Gene-based analysis identified EPHA6 as the gene most significantly associated with paclitaxel-induced neuropathy...This first study sequencing EPHA genes revealed that low-frequency variants in EPHA6, EPHA5, and EPHA8 contribute to the susceptibility to paclitaxel-induced neuropathy
Title: Targeted Sequencing Reveals Low-Frequency Variants in EPHA Genes as Markers of Paclitaxel-Induced Peripheral Neuropathy.
High EPHA8 expression is associated with epithelial ovarian cancer.
Title: EphA8 is a prognostic marker for epithelial ovarian cancer.
Human miR-10a and EphA8 regulate epithelial-mesenchymal transition (EMT) to affect glioma cell migration and invasion.
Title: miR-10a controls glioma migration and invasion through regulating epithelial-mesenchymal transition via EphA8.
RINL, as a GEF for Rab5 subfamily, is implicated in the EphA8-degradation pathway via its interaction with odin.
Title: RINL, guanine nucleotide exchange factor Rab5-subfamily, is involved in the EphA8-degradation pathway with odin.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association of polymorphisms in the SLIT2 axonal guidance gene with anger in suicide attempters.
role in stimulated cell migration in presnce of p110 gamma PI-3 kinase
Title: The p110 gamma PI-3 kinase is required for EphA8-stimulated cell migration.
EphA8 receptor is capable of inducing a sustained increase in MAPK activity, thereby promoting neurite outgrowth in neuronal cells
Title: The EphA8 receptor induces sustained MAP kinase activation to promote neurite outgrowth in neuronal cells.

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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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Markers

D1S512 (e-PCR)
- UniSTS:38676

SHGC-144654 (e-PCR)
- UniSTS:172333

D1S512 (e-PCR)
- UniSTS:473139

EPHA8_610 (e-PCR)
- UniSTS:277210

EPHA8_V25 (e-PCR)
- UniSTS:277210

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables GPI-linked ephrin receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables ephrin receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables growth factor binding	IEA Inferred from Electronic Annotation more info
enables transmembrane-ephrin receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in axon guidance	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to follicle-stimulating hormone stimulus	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	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron remodeling	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein autophosphorylation	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell adhesion mediated by integrin	ISS Inferred from Sequence or Structural Similarity more info
involved_in substrate-dependent cell migration	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
located_in neuron projection	ISS Inferred from Sequence or Structural Similarity more info
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 type-A receptor 8

Names: EPH- and ELK-related kinase; EPH- and ELK-related tyrosine kinase; EPH-like kinase 3; hydroxyaryl-protein kinase; protein-tyrosine kinase; tyrosine-protein kinase receptor EEK; tyrosylprotein kinase

NP_001006944.1

EC 2.7.10.1

NP_065387.1

EC 2.7.10.1

XP_011539271.1

EC 2.7.10.1

XP_011539272.1

EC 2.7.10.1

XP_011539274.1

EC 2.7.10.1

XP_011539275.1

EC 2.7.10.1

XP_011539277.1

EC 2.7.10.1

XP_054191008.1

EC 2.7.10.1

XP_054191009.1

EC 2.7.10.1

XP_054191010.1

EC 2.7.10.1

XP_054191011.1

EC 2.7.10.1

XP_054191012.1

EC 2.7.10.1

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_001006943.3 → NP_001006944.1 ephrin type-A receptor 8 isoform 2 precursor

See identical proteins and their annotated locations for NP_001006944.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1, that results in a frameshift. It encodes isoform 2, which has a shorter and distinct C-terminus compared to isoform 1. This transcript is supported by mRNA transcripts but the predicted ORF and its predicted precursor sequence have not yet been experimentally confirmed.

Source sequence(s)

AL035703, BC072417, DR007053

Consensus CDS

CCDS30626.1

UniProtKB/Swiss-Prot

P29322

Related

ENSP00000363775.4, ENST00000374644.8

Conserved Domains (2) summary

pfam00041
Location:330 → 418

fn3; Fibronectin type III domain

cl02704
Location:31 → 203

EphR_LBD; Ligand Binding Domain of Ephrin Receptors
NM_020526.5 → NP_065387.1 ephrin type-A receptor 8 isoform 1 precursor

See identical proteins and their annotated locations for NP_065387.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AB040892, AL035703, BC072417, DR007053

Consensus CDS

CCDS225.1

UniProtKB/Swiss-Prot

P29322, Q6IN80, Q8IUX6, Q9NUA9, Q9P269

Related

ENSP00000166244.3, ENST00000166244.8

Conserved Domains (8) summary

cd09550
Location:933 → 995

SAM_EPH-A8; SAM domain of EPH-A8 subfamily of tyrosine kinase receptors

smart00454
Location:934 → 994

SAM; Sterile alpha motif

cd00063
Location:440 → 531

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd05066
Location:630 → 896

PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors

pfam00041
Location:330 → 423

fn3; Fibronectin type III domain

pfam07714
Location:635 → 892

Pkinase_Tyr; Protein tyrosine kinase

pfam14575
Location:566 → 630

EphA2_TM; Ephrin type-A receptor 2 transmembrane domain

cl02704
Location:31 → 203

EphR_LBD; Ligand Binding Domain of Ephrin Receptors

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

22563489..22603595

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011540969.2 → XP_011539271.1 ephrin type-A receptor 8 isoform X1

See identical proteins and their annotated locations for XP_011539271.1

Conserved Domains (8) summary

cd09550
Location:858 → 920

SAM_EPH-A8; SAM domain of EPH-A8 subfamily of tyrosine kinase receptors

smart00454
Location:859 → 919

SAM; Sterile alpha motif

cd00063
Location:365 → 456

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd05066
Location:555 → 821

PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors

pfam00041
Location:255 → 348

fn3; Fibronectin type III domain

pfam07714
Location:560 → 817

Pkinase_Tyr; Protein tyrosine kinase

pfam14575
Location:491 → 555

EphA2_TM; Ephrin type-A receptor 2 transmembrane domain

cl02704
Location:1 → 128

EphR_LBD; Ligand Binding Domain of Ephrin Receptors
XM_011540972.2 → XP_011539274.1 ephrin type-A receptor 8 isoform X1

See identical proteins and their annotated locations for XP_011539274.1

Conserved Domains (8) summary

cd09550
Location:858 → 920

SAM_EPH-A8; SAM domain of EPH-A8 subfamily of tyrosine kinase receptors

smart00454
Location:859 → 919

SAM; Sterile alpha motif

cd00063
Location:365 → 456

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd05066
Location:555 → 821

PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors

pfam00041
Location:255 → 348

fn3; Fibronectin type III domain

pfam07714
Location:560 → 817

Pkinase_Tyr; Protein tyrosine kinase

pfam14575
Location:491 → 555

EphA2_TM; Ephrin type-A receptor 2 transmembrane domain

cl02704
Location:1 → 128

EphR_LBD; Ligand Binding Domain of Ephrin Receptors
XM_011540970.2 → XP_011539272.1 ephrin type-A receptor 8 isoform X1

See identical proteins and their annotated locations for XP_011539272.1

Conserved Domains (8) summary

cd09550
Location:858 → 920

SAM_EPH-A8; SAM domain of EPH-A8 subfamily of tyrosine kinase receptors

smart00454
Location:859 → 919

SAM; Sterile alpha motif

cd00063
Location:365 → 456

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd05066
Location:555 → 821

PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors

pfam00041
Location:255 → 348

fn3; Fibronectin type III domain

pfam07714
Location:560 → 817

Pkinase_Tyr; Protein tyrosine kinase

pfam14575
Location:491 → 555

EphA2_TM; Ephrin type-A receptor 2 transmembrane domain

cl02704
Location:1 → 128

EphR_LBD; Ligand Binding Domain of Ephrin Receptors
XM_011540973.2 → XP_011539275.1 ephrin type-A receptor 8 isoform X1

See identical proteins and their annotated locations for XP_011539275.1

Conserved Domains (8) summary

cd09550
Location:858 → 920

SAM_EPH-A8; SAM domain of EPH-A8 subfamily of tyrosine kinase receptors

smart00454
Location:859 → 919

SAM; Sterile alpha motif

cd00063
Location:365 → 456

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd05066
Location:555 → 821

PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors

pfam00041
Location:255 → 348

fn3; Fibronectin type III domain

pfam07714
Location:560 → 817

Pkinase_Tyr; Protein tyrosine kinase

pfam14575
Location:491 → 555

EphA2_TM; Ephrin type-A receptor 2 transmembrane domain

cl02704
Location:1 → 128

EphR_LBD; Ligand Binding Domain of Ephrin Receptors
XM_011540975.4 → XP_011539277.1 ephrin type-A receptor 8 isoform X2

Conserved Domains (4) summary

cd09550
Location:528 → 590

SAM_EPH-A8; SAM domain of EPH-A8 subfamily of tyrosine kinase receptors

cd05066
Location:225 → 491

PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors

pfam00041
Location:34 → 119

fn3; Fibronectin type III domain

pfam14575
Location:161 → 225

EphA2_TM; Ephrin type-A receptor 2 transmembrane domain