Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
1948
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Ephrin B2 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
EFNB2 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
EPLG5, HTKL, Htk-L, LERK5, ephrin-B2 |
Chromosome
Chromosome number
|
13 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
13q33.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system a |
UniProt ID |
P52799
|
Protein name |
Ephrin-B2 (EPH-related receptor tyrosine kinase ligand 5) (LERK-5) (HTK ligand) (HTK-L) |
Protein function |
Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing o |
PDB |
2HLE
,
2I85
,
2VSK
,
2VSM
,
2WO2
,
3GXU
,
4UF7
,
6P7Y
,
6PDL
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00812
|
Ephrin |
29 → 164 |
Ephrin |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Lung and kidney. |
Sequence |
|
Sequence length |
333 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Lung cancer |
Malignant neoplasm of lung |
rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135 |
27935865 |
Schizophrenia |
Schizophrenia |
rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 View all (12 more) |
20483485 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Pulmonary hypoplasia |
Primary pulmonary hypoplasia |
|
30106123 |
ClinVar |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
13q deletion syndrome |
Associate
|
28393221 |
Adenocarcinoma |
Associate
|
32362422 |
Adenocarcinoma of Lung |
Associate
|
30106131, 33021972, 39273449 |
Asthma |
Associate
|
28599074 |
Atherosclerosis |
Associate
|
21672356 |
Bone Diseases |
Associate
|
19664212 |
Breast Neoplasms |
Associate
|
23981902, 31638179 |
Calcinosis Cutis |
Associate
|
32362422 |
Capillary Malformation Arteriovenous Malformation |
Associate
|
32286515 |
Carcinogenesis |
Associate
|
24771266 |
Carcinoma Hepatocellular |
Associate
|
25645722 |
Carcinoma Pancreatic Ductal |
Associate
|
26345967, 32036221 |
Carcinoma Renal Cell |
Associate
|
33761933 |
Cardiovascular Diseases |
Associate
|
28393221, 30423812 |
Cholangiocarcinoma |
Associate
|
25012246 |
Colonic Neoplasms |
Associate
|
11920461 |
Colorectal Neoplasms |
Associate
|
32036221, 32751332 |
Crohn Disease |
Associate
|
15996027 |
Endometrial Neoplasms |
Associate
|
17108150 |
Epilepsy |
Associate
|
40045230 |
Esophageal Squamous Cell Carcinoma |
Inhibit
|
24771266 |
Glioblastoma |
Associate
|
19728339 |
Glioma |
Associate
|
19728339 |
Heart Defects Congenital |
Associate
|
28393221 |
Heart Septal Defects Ventricular |
Associate
|
30423812 |
HIV Infections |
Inhibit
|
23314923 |
Inflammatory Bowel Diseases |
Stimulate
|
15996027 |
Intracranial Arteriovenous Malformations |
Associate
|
24517927, 32286515 |
Kidney Failure Chronic |
Associate
|
18580054 |
Medulloblastoma |
Associate
|
25258252 |
Neoplasm Metastasis |
Associate
|
25012246, 31638179 |
Neoplasms |
Associate
|
17108150, 17380111, 18231102, 24517927, 25645722, 26044849, 33648511, 36402751 |
Neoplasms |
Stimulate
|
20233847, 32036221, 39273449 |
Neuroblastoma |
Associate
|
21109931 |
Osteoarthritis |
Associate
|
39213112 |
Osteoporosis |
Associate
|
39213112 |
Osteosarcoma |
Associate
|
12209731 |
Ovarian Neoplasms |
Associate
|
18231102 |
Pancreatic Neoplasms |
Associate
|
26345967, 33648511 |
Prostatic Neoplasms |
Associate
|
28035996 |
Sarcoma Kaposi |
Associate
|
15471957 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
32036221, 36438491 |
Stomach Neoplasms |
Associate
|
12136247 |
Thyroid Cancer Papillary |
Associate
|
27986811 |
Urinary Bladder Neoplasms |
Associate
|
28320388 |
Urogenital Abnormalities |
Associate
|
28393221 |
Varicose Veins |
Associate
|
26808710 |
Venous Thromboembolism |
Associate
|
28910333 |
Vitreoretinopathy Proliferative |
Associate
|
19696168 |
|