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    EPHA6 EPH receptor A6 [ Homo sapiens (human) ]

    Gene ID: 285220, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:19296
    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
    Summary
    Predicted to enable transmembrane-ephrin receptor activity. Predicted to be involved in axon guidance and ephrin receptor signaling pathway. Located in nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EPHA6 in Genome Data Viewer
    Location:
    3q11.2
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (96814594..97761532)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (99518416..100468755)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (96533438..97480376)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:96513110-96513654 Neighboring gene uncharacterized LOC124909397 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14550 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14551 Neighboring gene CDV3 pseudogene 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:96606342-96607541 Neighboring gene uncharacterized LOC107986103 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:96844549-96845271 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:96995547-96996405 Neighboring gene uncharacterized LOC101929278 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:97108697-97109268 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:97107500-97108060 Neighboring gene TPTE2 pseudogene 7 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:97381594-97382192 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:97406521-97407050 Neighboring gene NANOG hESC enhancer GRCh37_chr3:97430329-97430833 Neighboring gene uncharacterized LOC124906256 Neighboring gene NANOG hESC enhancer GRCh37_chr3:97466009-97466510 Neighboring gene H3K27ac hESC enhancers GRCh37_chr3:97482933-97483434 and GRCh37_chr3:97483435-97483934 Neighboring gene uncharacterized LOC101929298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14552 Neighboring gene uncharacterized LOC105373994 Neighboring gene ARF 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

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ35246, DKFZp434C1418

    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 IEA
    Inferred from Electronic Annotation
    more info
     
    enables boss receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables brain-derived neurotrophic factor receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables epidermal growth factor receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables fibroblast growth factor receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables hepatocyte growth factor receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AXY142 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3Y41 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables insulin receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables insulin-like growth factor receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables macrophage colony-stimulating factor receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables placental growth factor receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables platelet-derived growth factor alpha-receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables platelet-derived growth factor beta-receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine kinase collagen receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables stem cell factor receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables transmembrane-ephrin receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables vascular endothelial growth factor receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in Kit signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in brain-derived neurotrophic factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in collagen-activated tyrosine kinase receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ephrin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in epidermal growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fibroblast growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hepatocyte growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in insulin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in insulin-like growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in macrophage colony-stimulating factor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in platelet-derived growth factor receptor-alpha signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in platelet-derived growth factor receptor-beta signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vascular endothelial growth factor receptor-1 signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vascular endothelial growth factor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    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_016861704.2
    XP_016861705.2
    XP_016861706.1
    XP_016861707.1
    XP_016861708.1
    XP_047303964.1
    XP_047303965.1
    XP_054202245.1
    XP_054202246.1
    XP_054202247.1
    XP_054202248.1
    XP_054202249.1
    XP_054202250.1
    XP_054202251.1
    XP_054202252.1
    XP_054202253.1
    XP_054202254.1
    XP_054202255.1
    XP_054202256.1
    XP_054202257.1
    XP_054202258.1
    XP_054202259.1
    XP_054202260.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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/Swiss-Prot
      D6RAL5, Q9UF33
      UniProtKB/TrEMBL
      A0A0B4J1T8
      Related
      ENSP00000374323.5, ENST00000389672.10
      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
      H0Y9V0
      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: 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

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      96814594..97761532
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017006211.2XP_016861700.1  ephrin type-A receptor 6 isoform X4

      UniProtKB/Swiss-Prot
      D6RAL5, Q9UF33
      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
    2. XM_006713592.4XP_006713655.1  ephrin type-A receptor 6 isoform X1

      UniProtKB/Swiss-Prot
      D6RAL5, Q9UF33
      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
    3. XM_017006210.2XP_016861699.1  ephrin type-A receptor 6 isoform X2

      UniProtKB/Swiss-Prot
      D6RAL5, Q9UF33
    4. XM_047448008.1XP_047303964.1  ephrin type-A receptor 6 isoform X3

      UniProtKB/Swiss-Prot
      D6RAL5, Q9UF33
    5. XM_017006214.2XP_016861703.1  ephrin type-A receptor 6 isoform X7

    6. XM_017006219.2XP_016861708.1  ephrin type-A receptor 6 isoform X11

      UniProtKB/TrEMBL
      E7EU71
      Related
      ENSP00000420598.2, ENST00000470610.6
    7. XM_011512705.3XP_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
    8. XM_011512706.3XP_011511008.1  ephrin type-A receptor 6 isoform X14

      UniProtKB/TrEMBL
      H0Y9V0
      Conserved Domains (1) summary
      cd10484
      Location:128300
      EphR_LBD_A6; Ligand Binding Domain of Ephrin type-A Receptor 6
    9. XM_011512707.3XP_011511009.1  ephrin type-A receptor 6 isoform X15

      UniProtKB/TrEMBL
      H0Y9V0
      Conserved Domains (1) summary
      cd10484
      Location:128300
      EphR_LBD_A6; Ligand Binding Domain of Ephrin type-A Receptor 6
    10. XM_017006212.1XP_016861701.1  ephrin type-A receptor 6 isoform X5

      UniProtKB/Swiss-Prot
      D6RAL5, Q9UF33
    11. XM_017006213.2XP_016861702.1  ephrin type-A receptor 6 isoform X6

      UniProtKB/Swiss-Prot
      D6RAL5, Q9UF33
      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
    12. XM_017006218.1XP_016861707.1  ephrin type-A receptor 6 isoform X10

    13. XM_017006217.2XP_016861706.1  ephrin type-A receptor 6 isoform X9

    14. XM_017006215.2XP_016861704.2  ephrin type-A receptor 6 isoform X8

    15. XM_017006216.2XP_016861705.2  ephrin type-A receptor 6 isoform X8

    16. XM_047448009.1XP_047303965.1  ephrin type-A receptor 6 isoform X12

    RNA

    1. XR_001740110.2 RNA Sequence

    2. XR_924126.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      99518416..100468755
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346273.1XP_054202248.1  ephrin type-A receptor 6 isoform X4

      UniProtKB/Swiss-Prot
      D6RAL5, Q9UF33
    2. XM_054346270.1XP_054202245.1  ephrin type-A receptor 6 isoform X1

      UniProtKB/Swiss-Prot
      D6RAL5, Q9UF33
    3. XM_054346271.1XP_054202246.1  ephrin type-A receptor 6 isoform X2

      UniProtKB/Swiss-Prot
      D6RAL5, Q9UF33
    4. XM_054346272.1XP_054202247.1  ephrin type-A receptor 6 isoform X3

      UniProtKB/Swiss-Prot
      D6RAL5, Q9UF33
    5. XM_054346276.1XP_054202251.1  ephrin type-A receptor 6 isoform X7

    6. XM_054346281.1XP_054202256.1  ephrin type-A receptor 6 isoform X11

      UniProtKB/TrEMBL
      E7EU71
    7. XM_054346283.1XP_054202258.1  ephrin type-A receptor 6 isoform X13

    8. XM_054346284.1XP_054202259.1  ephrin type-A receptor 6 isoform X14

      UniProtKB/TrEMBL
      H0Y9V0
    9. XM_054346285.1XP_054202260.1  ephrin type-A receptor 6 isoform X15

      UniProtKB/TrEMBL
      H0Y9V0
    10. XM_054346274.1XP_054202249.1  ephrin type-A receptor 6 isoform X5

      UniProtKB/Swiss-Prot
      D6RAL5, Q9UF33
    11. XM_054346275.1XP_054202250.1  ephrin type-A receptor 6 isoform X6

      UniProtKB/Swiss-Prot
      D6RAL5, Q9UF33
    12. XM_054346280.1XP_054202255.1  ephrin type-A receptor 6 isoform X10

    13. XM_054346279.1XP_054202254.1  ephrin type-A receptor 6 isoform X9

    14. XM_054346277.1XP_054202252.1  ephrin type-A receptor 6 isoform X8

    15. XM_054346278.1XP_054202253.1  ephrin type-A receptor 6 isoform X8

    16. XM_054346282.1XP_054202257.1  ephrin type-A receptor 6 isoform X12

    RNA

    1. XR_008486700.1 RNA Sequence

    2. XR_008486701.1 RNA Sequence