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EPHA8 EPH receptor A8 [ Homo sapiens (human) ]

Gene ID: 2046, updated on 1-Mar-2024

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
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Genomic context

See EPHA8 in Genome Data Viewer
Location:
1p36.12
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (22563489..22603595)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (22387196..22428607)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (22889982..22930088)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22743723-22744638 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:22769377-22769994 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:22769995-22770614 Neighboring gene zinc finger and BTB domain containing 40 Neighboring gene Sharpr-MPRA regulatory region 2075 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22778273-22778834 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:22791857-22792004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22880423-22881056 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22881753-22882336 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22882919-22883500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22883501-22884082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22890520-22891020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22898749-22899308 Neighboring gene Sharpr-MPRA regulatory region 15208 Neighboring gene microRNA 6127 Neighboring gene complement C1q A chain

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA1459

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 phosphorylation IEA
Inferred from Electronic Annotation
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 phosphorylation IBA
Inferred from Biological aspect of Ancestor
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
 
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

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
NP_065387.1
XP_011539271.1
XP_011539272.1
XP_011539274.1
XP_011539275.1
XP_011539277.1
XP_054191008.1
XP_054191009.1
XP_054191010.1
XP_054191011.1
XP_054191012.1

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)

  1. NM_001006943.3NP_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:330418
    fn3; Fibronectin type III domain
    cl02704
    Location:31203
    EphR_LBD; Ligand Binding Domain of Ephrin Receptors
  2. NM_020526.5NP_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:933995
    SAM_EPH-A8; SAM domain of EPH-A8 subfamily of tyrosine kinase receptors
    smart00454
    Location:934994
    SAM; Sterile alpha motif
    cd00063
    Location:440531
    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:630896
    PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors
    pfam00041
    Location:330423
    fn3; Fibronectin type III domain
    pfam07714
    Location:635892
    Pkinase_Tyr; Protein tyrosine kinase
    pfam14575
    Location:566630
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
    cl02704
    Location:31203
    EphR_LBD; Ligand Binding Domain of Ephrin Receptors

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

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    22563489..22603595
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540969.2XP_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:858920
    SAM_EPH-A8; SAM domain of EPH-A8 subfamily of tyrosine kinase receptors
    smart00454
    Location:859919
    SAM; Sterile alpha motif
    cd00063
    Location:365456
    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:555821
    PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors
    pfam00041
    Location:255348
    fn3; Fibronectin type III domain
    pfam07714
    Location:560817
    Pkinase_Tyr; Protein tyrosine kinase
    pfam14575
    Location:491555
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
    cl02704
    Location:1128
    EphR_LBD; Ligand Binding Domain of Ephrin Receptors
  2. XM_011540972.2XP_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:858920
    SAM_EPH-A8; SAM domain of EPH-A8 subfamily of tyrosine kinase receptors
    smart00454
    Location:859919
    SAM; Sterile alpha motif
    cd00063
    Location:365456
    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:555821
    PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors
    pfam00041
    Location:255348
    fn3; Fibronectin type III domain
    pfam07714
    Location:560817
    Pkinase_Tyr; Protein tyrosine kinase
    pfam14575
    Location:491555
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
    cl02704
    Location:1128
    EphR_LBD; Ligand Binding Domain of Ephrin Receptors
  3. XM_011540970.2XP_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:858920
    SAM_EPH-A8; SAM domain of EPH-A8 subfamily of tyrosine kinase receptors
    smart00454
    Location:859919
    SAM; Sterile alpha motif
    cd00063
    Location:365456
    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:555821
    PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors
    pfam00041
    Location:255348
    fn3; Fibronectin type III domain
    pfam07714
    Location:560817
    Pkinase_Tyr; Protein tyrosine kinase
    pfam14575
    Location:491555
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
    cl02704
    Location:1128
    EphR_LBD; Ligand Binding Domain of Ephrin Receptors
  4. XM_011540973.2XP_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:858920
    SAM_EPH-A8; SAM domain of EPH-A8 subfamily of tyrosine kinase receptors
    smart00454
    Location:859919
    SAM; Sterile alpha motif
    cd00063
    Location:365456
    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:555821
    PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors
    pfam00041
    Location:255348
    fn3; Fibronectin type III domain
    pfam07714
    Location:560817
    Pkinase_Tyr; Protein tyrosine kinase
    pfam14575
    Location:491555
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
    cl02704
    Location:1128
    EphR_LBD; Ligand Binding Domain of Ephrin Receptors
  5. XM_011540975.4XP_011539277.1  ephrin type-A receptor 8 isoform X2

    Conserved Domains (4) summary
    cd09550
    Location:528590
    SAM_EPH-A8; SAM domain of EPH-A8 subfamily of tyrosine kinase receptors
    cd05066
    Location:225491
    PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors
    pfam00041
    Location:34119
    fn3; Fibronectin type III domain
    pfam14575
    Location:161225
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain

RNA

  1. XR_946576.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    22387196..22428607
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054335034.1XP_054191009.1  ephrin type-A receptor 8 isoform X1

  2. XM_054335035.1XP_054191010.1  ephrin type-A receptor 8 isoform X1

  3. XM_054335033.1XP_054191008.1  ephrin type-A receptor 8 isoform X1

  4. XM_054335036.1XP_054191011.1  ephrin type-A receptor 8 isoform X1

  5. XM_054335037.1XP_054191012.1  ephrin type-A receptor 8 isoform X2

RNA

  1. XR_008485961.1 RNA Sequence