Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
359948
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Interferon regulatory factor 2 binding protein 2 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
IRF2BP2 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
CVID14, LRIR2 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
CVID14 |
Chromosome
Chromosome number
|
1 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
1q42.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes an interferon regulatory factor-2 (IRF2) binding protein that interacts with the C-terminal transcriptional repression domain of IRF2. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Anemia |
Anemia |
rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 View all (89 more) |
|
Common variable immunodeficiency |
Common Variable Immunodeficiency, IMMUNODEFICIENCY, COMMON VARIABLE, 14 |
rs72553883, rs121908379, rs104894650, rs587776775, rs398122863, rs398122864, rs397514332, rs397514331, rs727502786, rs727502787, rs72553882, rs869320688, rs869320689, rs869320754, rs773694113, rs1553319504, rs201017642, rs1555550717, rs1558192723, rs1030733127, rs749636258, rs185689791, rs1559035937, rs1565214594, rs1560679469, rs1560711146, rs1569376229, rs1578790573, rs939459600, rs1572952530, rs1572950925, rs772481080, rs369363360, rs72553885, rs72553879, rs1265262160, rs1303637368, rs757598952, rs1016142312, rs1578771120, rs1578771197, rs1578793298, rs1578793312, rs1578809101, rs1578811073, rs1590715754, rs144718007, rs759649059, rs1723945421, rs2061279365 View all (35 more) |
27016798 |
Hypofibrinogenemia |
Hypofibrinogenemia |
rs121913087, rs121913088, rs587776837, rs121909616, rs121909625, rs121909608, rs121909607, rs146387238, rs1578795296, rs1214070111, rs776817952, rs762964798, rs121909606, rs1414035000, rs1310452604 |
|
Neutropenia |
Neutropenia |
rs879253882 |
|
Pancytopenia |
Pancytopenia |
rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820 |
|
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Ulcerative colitis |
Ulcerative colitis |
|
|
GWAS |
Inflammatory Bowel Disease |
Inflammatory Bowel Disease |
|
|
GWAS |
Crohn Disease |
Crohn Disease |
|
|
GWAS |
|
|