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EPHA6 EPH receptor A6 [ Homo sapiens (human) ]

Gene ID: 285220, updated on 21-Dec-2019

Summary

Official Symbol
EPHA6provided by HGNC
Official Full Name
EPH receptor A6provided by HGNC
Primary source
HGNC:HGNC:19296
See related
Ensembl:ENSG00000080224 MIM:600066
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

Genomic context

See EPHA6 in Genome Data Viewer
Location:
3q11.2
Exon count:
35
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 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

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?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ35246, DKFZp434C1418

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
transmembrane receptor protein tyrosine kinase 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
axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
biological_process ND
No biological Data available
more info
 
ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
transmembrane receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001080448.3NP_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)
    AC107482, AC110491, AC117439, AC117470, AC119745, AC130510, AC135369, BM676895, DA385338
    Consensus CDS
    CCDS46876.1
    UniProtKB/TrEMBL
    A0A0B4J1T8, B3KS12
    Related
    ENSP00000374323.5, ENST00000389672.9
    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_001278300.2NP_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, ENST00000514100.5
    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_001278301.2NP_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)
    AC119745, AY358738, DA385338
    UniProtKB/TrEMBL
    Q6UWM0
    Related
    ENSP00000425132.1, ENST00000506569.1
    Conserved Domains (1) summary
    cd10484
    Location:128300
    EphR_LBD_A6; Ligand Binding Domain of Ephrin type-A Receptor 6
  4. NM_173655.4NP_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, ENST00000502694.1
    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 Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 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, ENST00000470610.6
  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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