Human Gene EPHA7 (ENST00000369303.9_9) from GENCODE V47lift37
  Description: EPH receptor A7, transcript variant 1 (from RefSeq NM_004440.4)
Gencode Transcript: ENST00000369303.9_9
Gencode Gene: ENSG00000135333.15_15
Transcript (Including UTRs)
   Position: hg19 chr6:93,949,738-94,129,277 Size: 179,540 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg19 chr6:93,953,144-94,129,059 Size: 175,916 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:93,949,738-94,129,277)mRNA (may differ from genome)Protein (998 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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-  Comments and Description Text from UniProtKB
  ID: EPHA7_HUMAN
DESCRIPTION: RecName: Full=Ephrin type-A receptor 7; EC=2.7.10.1; AltName: Full=EPH homology kinase 3; Short=EHK-3; AltName: Full=EPH-like kinase 11; Short=EK11; Short=hEK11; Flags: Precursor;
FUNCTION: Receptor tyrosine kinase which binds promiscuously GPI- anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Among GPI-anchored ephrin-A ligands, EFNA5 is a cognate/functional ligand for EPHA7 and their interaction regulates brain development modulating cell-cell adhesion and repulsion. Has a repellent activity on axons and is for instance involved in the guidance of corticothalamic axons and in the proper topographic mapping of retinal axons to the colliculus. May also regulate brain development through a caspase(CASP3)-dependent proapoptotic activity. Forward signaling may result in activation of components of the ERK signaling pathway including MAP2K1, MAP2K2, MAPK1 AND MAPK3 which are phosphorylated upon activation of EPHA7.
CATALYTIC ACTIVITY: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
SUBUNIT: Heterotetramer upon binding of the ligand. The heterotetramer is composed of an ephrin dimer and a receptor dimer. Oligomerization is probably required to induce biological responses (By similarity). Interacts (via PDZ-binding motif) with GRIP1 and PICK1 (via PDZ domain) (By similarity).
INTERACTION: P52793:Efna1 (xeno); NbExp=2; IntAct=EBI-1383428, EBI-5241529; P29317:EPHA2; NbExp=3; IntAct=EBI-1383428, EBI-702104;
SUBCELLULAR LOCATION: Cell membrane (Probable); Single-pass type I membrane protein (Probable).
TISSUE SPECIFICITY: Widely expressed.
PTM: Phosphorylated (By similarity).
SIMILARITY: Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily.
SIMILARITY: Contains 1 Eph LBD (Eph ligand-binding) domain.
SIMILARITY: Contains 2 fibronectin type-III domains.
SIMILARITY: Contains 1 protein kinase domain.
SIMILARITY: Contains 1 SAM (sterile alpha motif) domain.
SEQUENCE CAUTION: Sequence=BAD92506.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/EPHA7ID40466ch6q16.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: EPHA7
Diseases sorted by gene-association score: gallbladder adenocarcinoma (16), mediastinal malignant lymphoma (16), brachydactyly-syndactyly syndrome (14), syndactyly, type v (10), mediastinal gray zone lymphoma (9), ureterocele (7), gray zone lymphoma (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 26.35 RPKM in Esophagus - Muscularis
Total median expression: 108.91 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -46.70218-0.214 Picture PostScript Text
3' UTR -752.603406-0.221 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001090 - Ephrin_rcpt_lig-bd_dom
IPR003961 - Fibronectin_type3
IPR008979 - Galactose-bd-like
IPR009030 - Growth_fac_rcpt
IPR013783 - Ig-like_fold
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom
IPR017441 - Protein_kinase_ATP_BS
IPR001660 - SAM
IPR013761 - SAM/pointed
IPR011510 - SAM_2
IPR001245 - Ser-Thr/Tyr_kinase_cat_dom
IPR011641 - Tyr-kin_ephrin_A/B_rcpt-like
IPR008266 - Tyr_kinase_AS
IPR020635 - Tyr_kinase_cat_dom
IPR016257 - Tyr_kinase_ephrin_rcpt
IPR001426 - Tyr_kinase_rcpt_V_CS

Pfam Domains:
PF00041 - Fibronectin type III domain
PF00069 - Protein kinase domain
PF00536 - SAM domain (Sterile alpha motif)
PF01404 - Ephrin receptor ligand binding domain
PF07647 - SAM domain (Sterile alpha motif)
PF07699 - Tyrosine-protein kinase ephrin type A/B receptor-like
PF07714 - Protein tyrosine and serine/threonine kinase
PF14575 - Ephrin type-A receptor 2 transmembrane domain

SCOP Domains:
47769 - SAM/Pointed domain
49363 - Purple acid phosphatase, N-terminal domain
49265 - Fibronectin type III
49785 - Galactose-binding domain-like
56112 - Protein kinase-like (PK-like)
57586 - TNF receptor-like
57184 - Growth factor receptor domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2REI - X-ray MuPIT 3DKO - X-ray MuPIT 3H8M - X-ray MuPIT 3NRU - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q15375
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004672 protein kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0004714 transmembrane receptor protein tyrosine kinase activity
GO:0005003 ephrin receptor activity
GO:0005004 GPI-linked ephrin receptor activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008046 axon guidance receptor activity
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0045499 chemorepellent activity
GO:0046875 ephrin receptor binding

Biological Process:
GO:0001934 positive regulation of protein phosphorylation
GO:0006468 protein phosphorylation
GO:0006915 apoptotic process
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
GO:0007275 multicellular organism development
GO:0007399 nervous system development
GO:0007420 brain development
GO:0016310 phosphorylation
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0022407 regulation of cell-cell adhesion
GO:0031290 retinal ganglion cell axon guidance
GO:0031952 regulation of protein autophosphorylation
GO:0043065 positive regulation of apoptotic process
GO:0043281 regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0043525 positive regulation of neuron apoptotic process
GO:0048013 ephrin receptor signaling pathway
GO:0048671 negative regulation of collateral sprouting
GO:0048755 branching morphogenesis of a nerve
GO:0050730 regulation of peptidyl-tyrosine phosphorylation
GO:0050919 negative chemotaxis
GO:0051964 negative regulation of synapse assembly
GO:0070372 regulation of ERK1 and ERK2 cascade
GO:0072178 nephric duct morphogenesis

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030425 dendrite
GO:0031594 neuromuscular junction
GO:0043025 neuronal cell body
GO:0045211 postsynaptic membrane


-  Descriptions from all associated GenBank mRNAs
  KJ901409 - Synthetic construct Homo sapiens clone ccsbBroadEn_10803 EPHA7 gene, encodes complete protein.
KJ896775 - Synthetic construct Homo sapiens clone ccsbBroadEn_06169 EPHA7 gene, encodes complete protein.
JA482309 - Sequence 292 from Patent WO2011072091.
JE980601 - Sequence 292 from Patent EP2862929.
L36642 - Homo sapiens receptor protein-tyrosine kinase (HEK11) mRNA, complete cds.
BC126125 - Homo sapiens EPH receptor A7, mRNA (cDNA clone MGC:161403 IMAGE:8991841), complete cds.
BC126151 - Homo sapiens EPH receptor A7, mRNA (cDNA clone MGC:161429 IMAGE:8991867), complete cds.
BC143857 - Homo sapiens EPH receptor A7, mRNA (cDNA clone MGC:177390 IMAGE:9052373), complete cds.
BC143858 - Homo sapiens EPH receptor A7, mRNA (cDNA clone MGC:177391 IMAGE:9052374), complete cds.
AB209269 - Homo sapiens mRNA for ephrin receptor EphA7 variant protein.
AK313529 - Homo sapiens cDNA, FLJ94087, Homo sapiens EphA7 (EPHA7), mRNA.
AB527279 - Synthetic construct DNA, clone: pF1KB4124, Homo sapiens EPHA7 gene for EPH receptor A7, without stop codon, in Flexi system.
JD036679 - Sequence 17703 from Patent EP1572962.
JD199873 - Sequence 180897 from Patent EP1572962.
JD450975 - Sequence 431999 from Patent EP1572962.
JD447822 - Sequence 428846 from Patent EP1572962.
JD450089 - Sequence 431113 from Patent EP1572962.
JD232278 - Sequence 213302 from Patent EP1572962.
BC027940 - Homo sapiens EPH receptor A7, mRNA (cDNA clone IMAGE:5204580), complete cds.
CU693332 - Synthetic construct Homo sapiens gateway clone IMAGE:100016627 5' read EPHA7 mRNA.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q15375 (Reactome details) participates in the following event(s):

R-HSA-3928646 EPHAs bind EFNAs
R-HSA-3928597 EPH:EFN dimers tetramerise
R-HSA-2682334 EPH-Ephrin signaling
R-HSA-3928665 EPH-ephrin mediated repulsion of cells
R-HSA-422475 Axon guidance
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: A0AUX7, B2R8W1, B7ZLJ9, B7ZLK0, EHK3, ENST00000369303.1, ENST00000369303.2, ENST00000369303.3, ENST00000369303.4, ENST00000369303.5, ENST00000369303.6, ENST00000369303.7, ENST00000369303.8, EPHA7_HUMAN, HEK11, NM_004440, Q15375, Q59G40, Q5VTU0, Q8N368, Q9H124, uc318hmf.1, uc318hmf.2
UCSC ID: ENST00000369303.9_9
RefSeq Accession: NM_004440.4
Protein: Q15375 (aka EPHA7_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.