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EPHA6 EPH receptor A6 [ Homo sapiens (human) ]

Gene ID: 285220, updated on 12-Aug-2018
Official Symbol
EPHA6provided by HGNC
Official Full Name
EPH receptor A6provided by HGNC
Primary source
HGNC:HGNC:19296
See related
Ensembl:ENSG00000080224 MIM:600066; Vega:OTTHUMG00000159208
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EHK2; EK12; EPA6; EHK-2; HEK12; PRO57066
Expression
Low expression observed in reference dataset See more
Orthologs
See EPHA6 in Genome Data Viewer
Location:
3q11.2
Exon count:
35
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (96814581..97761532)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (96533425..97467786)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene regulator of chromosome condensation 2 pseudogene 5 Neighboring gene CDV3 pseudogene 1 Neighboring gene uncharacterized LOC107986103 Neighboring gene uncharacterized LOC101929278 Neighboring gene uncharacterized LOC101929298 Neighboring gene uncharacterized LOC105373994 Neighboring gene ADP ribosylation factor like GTPase 6 Neighboring gene crystallin beta-gamma domain containing 3

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
  • Axon guidance, organism-specific biosystem (from KEGG)
    Axon guidance, organism-specific biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
  • Axon guidance, conserved biosystem (from KEGG)
    Axon guidance, conserved biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • EPH-Ephrin signaling, organism-specific biosystem (from REACTOME)
    EPH-Ephrin signaling, organism-specific biosystemDuring the development process cell migration and adhesion are the main forces involved in morphing the cells into critical anatomical structures. The ability of a cell to migrate to its correct dest...
  • EPH-ephrin mediated repulsion of cells, organism-specific biosystem (from REACTOME)
    EPH-ephrin mediated repulsion of cells, organism-specific biosystemDespite high-affinity multimeric interaction between EPHs and ephrins (EFNs), the cellular response to EPH-EFN engagement is usually repulsion between the two cells and signal termination. These repu...
  • EPHA forward signaling, organism-specific biosystem (from Pathway Interaction Database)
    EPHA forward signaling, organism-specific biosystem
    EPHA forward signaling
  • EPHA-mediated growth cone collapse, organism-specific biosystem (from REACTOME)
    EPHA-mediated growth cone collapse, organism-specific biosystemEPH/Ephrin signaling is coupled to Rho family GTPases such as Rac, Rho and Cdc42 that connect bidirectional receptor-ligand interactions to changes in the actin cytoskeleton (Noren & Pasquale 2004, G...
  • EphrinA-EPHA pathway, organism-specific biosystem (from Pathway Interaction Database)
    EphrinA-EPHA pathway, organism-specific biosystem
    EphrinA-EPHA pathway
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ35246, DKFZp434C1418

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ephrin receptor activity IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane receptor protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane-ephrin receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
negative regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of ERK1 and ERK2 cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Preferred Names
ephrin type-A receptor 6
Names
EPH homology kinase 2
EPH-like kinase 12
ephrin receptor EphA6
NP_001073917.2
NP_001265229.1
NP_001265230.1
NP_775926.1
XP_006713655.1
XP_011511007.1
XP_011511008.1
XP_011511009.1
XP_016861699.1
XP_016861700.1
XP_016861701.1
XP_016861702.1
XP_016861703.1
XP_016861704.1
XP_016861705.1
XP_016861706.1
XP_016861707.1
XP_016861708.1
XP_016861709.1
XP_016861712.1

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_001080448.2NP_001073917.2  ephrin type-A receptor 6 isoform a

    See identical proteins and their annotated locations for NP_001073917.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AK092565, BC031881, BX099374, DA385338, DN991634, DR731365, DV080244
    Consensus CDS
    CCDS46876.1
    UniProtKB/TrEMBL
    A0A0B4J1T8, B3KS12
    Related
    ENSP00000374323.5, OTTHUMP00000214353, ENST00000389672.9, OTTHUMT00000353845
    Conserved Domains (8) summary
    cd09547
    Location:10551118
    SAM_EPH-A6; SAM domain of EPH-A6 subfamily of tyrosine kinase receptors
    smart00454
    Location:10521119
    SAM; Sterile alpha motif
    cd10484
    Location:128300
    EphR_LBD_A6; Ligand Binding Domain of Ephrin type-A Receptor 6
    cd00063
    Location:537628
    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:7201028
    PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors
    pfam00041
    Location:427521
    fn3; Fibronectin type III domain
    pfam07714
    Location:7251024
    Pkinase_Tyr; Protein tyrosine kinase
    pfam14575
    Location:648720
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
  2. NM_001278300.1NP_001265229.1  ephrin type-A receptor 6 isoform c

    See identical proteins and their annotated locations for NP_001265229.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains multiple differences at the 5' and 3' ends, compared to variant 1. It represents use of an alternate promoter and initiates translation at an alternate start codon. The encoded isoform (c) is shorter and has distinct N- and C- termini, compared to isoform a.
    Source sequence(s)
    AC117439, AC117470, AL133666, BC067287, DC398430
    Consensus CDS
    CCDS63697.1
    UniProtKB/Swiss-Prot
    Q9UF33
    Related
    ENSP00000421711.1, OTTHUMP00000217917, ENST00000514100.5, OTTHUMT00000359997
    Conserved Domains (3) summary
    pfam07714
    Location:117320
    Pkinase_Tyr; Protein tyrosine kinase
    pfam14575
    Location:40112
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
    cl21453
    Location:112320
    PKc_like; Protein Kinases, catalytic domain
  3. NM_001278301.1NP_001265230.1  ephrin type-A receptor 6 isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks multiple 3' exons, and includes an alternate 3' exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (d) is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AY358738, DA385338
    UniProtKB/TrEMBL
    Q6UWM0
    Related
    ENSP00000425132.1, OTTHUMP00000217908, ENST00000506569.1, OTTHUMT00000359974
    Conserved Domains (1) summary
    cd10484
    Location:128300
    EphR_LBD_A6; Ligand Binding Domain of Ephrin type-A Receptor 6
  4. NM_173655.3NP_775926.1  ephrin type-A receptor 6 isoform b

    See identical proteins and their annotated locations for NP_775926.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains multiple differences at the 5' and 3' ends, compared to variant 1. It represents use of an alternate promoter and initiates translation at an alternate start codon. The encoded isoform (b) is shorter and has distinct N- and C- termini, compared to isoform a.
    Source sequence(s)
    AL133666, DC398430
    Consensus CDS
    CCDS54616.1
    UniProtKB/Swiss-Prot
    Q9UF33
    Related
    ENSP00000423950.1, OTTHUMP00000217916, ENST00000502694.1, OTTHUMT00000359996
    Conserved Domains (3) summary
    pfam07714
    Location:117321
    Pkinase_Tyr; Protein tyrosine kinase
    pfam14575
    Location:40112
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
    cl21453
    Location:112320
    PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    96814581..97761532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713592.3XP_006713655.1  ephrin type-A receptor 6 isoform X1

    Conserved Domains (8) summary
    cd09547
    Location:10711134
    SAM_EPH-A6; SAM domain of EPH-A6 subfamily of tyrosine kinase receptors
    smart00454
    Location:10681135
    SAM; Sterile alpha motif
    cd10484
    Location:128300
    EphR_LBD_A6; Ligand Binding Domain of Ephrin type-A Receptor 6
    cd00063
    Location:537644
    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:7361044
    PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors
    pfam00041
    Location:427521
    fn3; Fibronectin type III domain
    pfam07714
    Location:7411040
    Pkinase_Tyr; Protein tyrosine kinase
    pfam14575
    Location:664736
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
  2. XM_017006210.1XP_016861699.1  ephrin type-A receptor 6 isoform X2

  3. XM_017006219.1XP_016861708.1  ephrin type-A receptor 6 isoform X11

    Related
    ENSP00000420598.2, OTTHUMP00000214347, ENST00000470610.6, OTTHUMT00000353837
  4. XM_011512705.2XP_011511007.1  ephrin type-A receptor 6 isoform X13

    Conserved Domains (1) summary
    cd10484
    Location:128300
    EphR_LBD_A6; Ligand Binding Domain of Ephrin type-A Receptor 6
  5. XM_011512706.2XP_011511008.1  ephrin type-A receptor 6 isoform X14

    Conserved Domains (1) summary
    cd10484
    Location:128300
    EphR_LBD_A6; Ligand Binding Domain of Ephrin type-A Receptor 6
  6. XM_011512707.2XP_011511009.1  ephrin type-A receptor 6 isoform X15

    Conserved Domains (1) summary
    cd10484
    Location:128300
    EphR_LBD_A6; Ligand Binding Domain of Ephrin type-A Receptor 6
  7. XM_017006211.1XP_016861700.1  ephrin type-A receptor 6 isoform X3

    Conserved Domains (8) summary
    cd09547
    Location:9431006
    SAM_EPH-A6; SAM domain of EPH-A6 subfamily of tyrosine kinase receptors
    smart00454
    Location:9401007
    SAM; Sterile alpha motif
    cd00063
    Location:409516
    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:608916
    PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors
    pfam00041
    Location:299393
    fn3; Fibronectin type III domain
    pfam07714
    Location:613912
    Pkinase_Tyr; Protein tyrosine kinase
    pfam14575
    Location:536608
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
    cl02704
    Location:23172
    EphR_LBD; Ligand Binding Domain of Ephrin Receptors
  8. XM_017006214.1XP_016861703.1  ephrin type-A receptor 6 isoform X6

  9. XM_017006212.1XP_016861701.1  ephrin type-A receptor 6 isoform X4

  10. XM_017006213.1XP_016861702.1  ephrin type-A receptor 6 isoform X5

    Conserved Domains (8) summary
    cd09547
    Location:915978
    SAM_EPH-A6; SAM domain of EPH-A6 subfamily of tyrosine kinase receptors
    smart00454
    Location:912979
    SAM; Sterile alpha motif
    cd00063
    Location:381488
    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:580888
    PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors
    pfam00041
    Location:271365
    fn3; Fibronectin type III domain
    pfam07714
    Location:585884
    Pkinase_Tyr; Protein tyrosine kinase
    pfam14575
    Location:508580
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
    cl02704
    Location:1144
    EphR_LBD; Ligand Binding Domain of Ephrin Receptors
  11. XM_017006218.1XP_016861707.1  ephrin type-A receptor 6 isoform X10

  12. XM_017006215.1XP_016861704.1  ephrin type-A receptor 6 isoform X7

  13. XM_017006216.1XP_016861705.1  ephrin type-A receptor 6 isoform X8

  14. XM_017006220.1XP_016861709.1  ephrin type-A receptor 6 isoform X12

  15. XM_017006223.1XP_016861712.1  ephrin type-A receptor 6 isoform X16

  16. XM_017006217.1XP_016861706.1  ephrin type-A receptor 6 isoform X9

RNA

  1. XR_001740110.1 RNA Sequence

  2. XR_924126.2 RNA Sequence

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