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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Enzymes FDA approved drug targets Human disease related genes RAS pathway related proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
1
Cytoband
p36.13
Chromosome location (bp)
16124337 - 16156069
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Receptor tyrosine kinase which binds promiscuously membrane-bound 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. Activated by the ligand ephrin-A1/EFNA1 regulates migration, integrin-mediated adhesion, proliferation and differentiation of cells. Regulates cell adhesion and differentiation through DSG1/desmoglein-1 and inhibition of the ERK1/ERK2 (MAPK3/MAPK1, respectively) signaling pathway. May also participate in UV radiation-induced apoptosis and have a ligand-independent stimulatory effect on chemotactic cell migration. During development, may function in distinctive aspects of pattern formation and subsequently in development of several fetal tissues. Involved for instance in angiogenesis, in early hindbrain development and epithelial proliferation and branching morphogenesis during mammary gland development. Engaged by the ligand ephrin-A5/EFNA5 may regulate lens fiber cells shape and interactions and be important for lens transparency development and maintenance. With ephrin-A2/EFNA2 may play a role in bone remodeling through regulation of osteoclastogenesis and osteoblastogenesis....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene belongs to 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. This gene encodes a protein that binds ephrin-A ligands. Mutations in this gene are the cause of certain genetically-related cataract disorders.[provided by RefSeq, May 2010]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM RAS pathway related proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Show all
GO:0000166[nucleotide binding] GO:0001501[skeletal system development] GO:0001525[angiogenesis] GO:0001568[blood vessel development] GO:0001570[vasculogenesis] GO:0001618[virus receptor activity] GO:0001649[osteoblast differentiation] GO:0001818[negative regulation of cytokine production] GO:0002043[blood vessel endothelial cell proliferation involved in sprouting angiogenesis] 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:0005005[transmembrane-ephrin receptor activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005886[plasma membrane] GO:0005887[integral component of plasma membrane] GO:0005925[focal adhesion] GO:0006468[protein phosphorylation] GO:0006915[apoptotic process] GO:0006954[inflammatory response] GO:0007155[cell adhesion] GO:0007169[transmembrane receptor protein tyrosine kinase signaling pathway] GO:0007411[axon guidance] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage] GO:0009986[cell surface] GO:0010591[regulation of lamellipodium assembly] GO:0014028[notochord formation] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016477[cell migration] GO:0016525[negative regulation of angiogenesis] GO:0016740[transferase activity] GO:0018108[peptidyl-tyrosine phosphorylation] GO:0019838[growth factor binding] GO:0021915[neural tube development] GO:0030027[lamellipodium] GO:0030154[cell differentiation] GO:0030182[neuron differentiation] GO:0030216[keratinocyte differentiation] GO:0030316[osteoclast differentiation] GO:0030335[positive regulation of cell migration] GO:0031256[leading edge membrane] GO:0031258[lamellipodium membrane] GO:0032587[ruffle membrane] GO:0032682[negative regulation of chemokine production] GO:0033598[mammary gland epithelial cell proliferation] GO:0033628[regulation of cell adhesion mediated by integrin] GO:0033674[positive regulation of kinase activity] GO:0036342[post-anal tail morphogenesis] GO:0042995[cell projection] GO:0043005[neuron projection] GO:0043235[receptor complex] GO:0043491[protein kinase B signaling] GO:0043535[regulation of blood vessel endothelial cell migration] GO:0045296[cadherin binding] GO:0045765[regulation of angiogenesis] GO:0046058[cAMP metabolic process] GO:0046718[viral entry into host cell] GO:0046849[bone remodeling] GO:0048013[ephrin receptor signaling pathway] GO:0048320[axial mesoderm formation] GO:0048514[blood vessel morphogenesis] GO:0048570[notochord morphogenesis] GO:0048870[cell motility] GO:0050830[defense response to Gram-positive bacterium] GO:0051898[negative regulation of protein kinase B signaling] GO:0060035[notochord cell development] GO:0060326[cell chemotaxis] GO:0060444[branching involved in mammary gland duct morphogenesis] GO:0070160[tight junction] GO:0070161[anchoring junction] GO:0070309[lens fiber cell morphogenesis] GO:0070372[regulation of ERK1 and ERK2 cascade] GO:0070848[response to growth factor] GO:0072659[protein localization to plasma membrane] GO:0090630[activation of GTPase activity] GO:0140677[molecular function activator activity] GO:1901491[negative regulation of lymphangiogenesis] GO:1903078[positive regulation of protein localization to plasma membrane] GO:1903348[positive regulation of bicellular tight junction assembly] GO:1904238[pericyte cell differentiation]
The Human Protein Atlas project is funded
