Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
2043
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
EPH receptor A4 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
EPHA4 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
EK8, HEK8, SEK, TYRO1 |
Chromosome
Chromosome number
|
2 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
2q36.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
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 ha |
UniProt ID |
P54764
|
Protein name |
Ephrin type-A receptor 4 (EC 2.7.10.1) (EPH-like kinase 8) (EK8) (hEK8) (Tyrosine-protein kinase TYRO1) (Tyrosine-protein kinase receptor SEK) |
Protein function |
Receptor tyrosine kinase which binds membrane-bound ephrin 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 |
PDB |
2LW8
,
2WO1
,
2WO2
,
2WO3
,
3CKH
,
3GXU
,
4BK4
,
4BK5
,
4BKA
,
4BKF
,
4M4P
,
4M4R
,
4W4Z
,
4W50
,
5JR2
,
7OFV
,
9CY8
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF01404
|
Ephrin_lbd |
31 → 204 |
Ephrin receptor ligand binding domain |
Domain |
PF00041
|
fn3 |
330 → 424 |
Fibronectin type III domain |
Domain |
PF00041
|
fn3 |
442 → 525 |
Fibronectin type III domain |
Domain |
PF14575
|
EphA2_TM |
548 → 618 |
Ephrin type-A receptor 2 transmembrane domain |
Domain |
PF07714
|
PK_Tyr_Ser-Thr |
621 → 878 |
Protein tyrosine and serine/threonine kinase |
Domain |
PF07647
|
SAM_2 |
908 → 973 |
SAM domain (Sterile alpha motif) |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:7898931}. |
Sequence |
|
Sequence length |
986 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Amyotrophic lateral sclerosis |
Amyotrophic Lateral Sclerosis, Amyotrophic lateral sclerosis |
rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs371575563, rs1402429085, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087 View all (171 more) |
22922411 |
Leukemia |
Leukemia, Myelocytic, Acute |
rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 |
27903959 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Mental depression |
Depressive disorder |
|
|
ClinVar |
Neurodevelopmental Disorders |
complex neurodevelopmental disorder |
|
|
GenCC |
Neuroticism |
Neuroticism |
|
|
GWAS |
Oligodendroglioma |
Oligodendroglioma |
|
|
GWAS |
Rheumatoid arthritis |
Rheumatoid arthritis |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma of Lung |
Associate
|
22807579 |
Adenoma |
Associate
|
30175151 |
Amyotrophic Lateral Sclerosis |
Associate
|
23991104, 26497046 |
Autism Spectrum Disorder |
Associate
|
38057311 |
Breast Neoplasms |
Associate
|
29101386, 33977106 |
Carcinogenesis |
Associate
|
34139238 |
Carcinoma Pancreatic Ductal |
Associate
|
16965393 |
Colorectal Neoplasms |
Associate
|
30097457 |
Epstein Barr Virus Infections |
Inhibit
|
27338098 |
Glioma |
Associate
|
37192718 |
HIV Infections |
Inhibit
|
23314923 |
Infections |
Associate
|
29899108, 30782663 |
Leukemia Myeloid Acute |
Associate
|
24764074 |
Lupus Erythematosus Systemic |
Associate
|
31536674 |
Lupus Erythematosus Systemic |
Inhibit
|
35462789 |
Lymphatic Metastasis |
Inhibit
|
24022400 |
Lymphoma B Cell |
Associate
|
27338098 |
Lymphoma B Cell Marginal Zone |
Inhibit
|
28887496 |
Lymphoma Large B Cell Diffuse |
Associate
|
27338098 |
Lymphoma Large B Cell Diffuse |
Inhibit
|
37976136 |
Lymphoma T Cell |
Associate
|
26376612 |
Melanoma |
Associate
|
34139238 |
Multiple Myeloma |
Associate
|
28351297 |
Multiple Sclerosis |
Associate
|
15779235 |
Neoplasms |
Associate
|
18837080, 22807579, 26376612, 28351297, 29101386, 30175151, 33977106, 34139238, 36804938, 38124114 |
Neurodegenerative Diseases |
Associate
|
34139238 |
Osteoarthritis |
Associate
|
23546957 |
Pancreatic Neoplasms |
Associate
|
16965393, 19949912 |
Parkinson Disease |
Associate
|
25556233 |
Pituitary Neoplasms |
Associate
|
33168897 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
39453390 |
Prostatitis |
Associate
|
8650201 |
Respiratory Tract Infections |
Associate
|
35212764 |
Sezary Syndrome |
Associate
|
26376612 |
Smoke Inhalation Injury |
Associate
|
28816646 |
Spinal Cord Injuries |
Associate
|
33595805 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
24022400, 36362284, 36804938 |
Stomach Neoplasms |
Associate
|
18837080 |
Tuberculosis Meningeal |
Associate
|
34685683 |
|