Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
6689
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Spi-B transcription factor |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
SPIB |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
SPI-B |
Chromosome
Chromosome number
|
19 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
19q13.33 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene is a transcriptional activator that binds to the PU-box (5`-GAGGAA-3`) and acts as a lymphoid-specific enhancer. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep |
UniProt ID |
Q01892
|
Protein name |
Transcription factor Spi-B |
Protein function |
Sequence specific transcriptional activator which binds to the PU-box, a purine-rich DNA sequence (5'-GAGGAA-3') that can act as a lymphoid-specific enhancer. Promotes development of plasmacytoid dendritic cells (pDCs), also known as type 2 DC p |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00178
|
Ets |
170 → 252 |
Ets-domain |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Expressed in plasmacytoid dendritic cells (pDCs) and B-cells, not expressed in T-cells or granulocytes. May also be enriched in stem cell populations of the liver. {ECO:0000269|PubMed:11841448, ECO:0000269|PubMed:12393575}. |
Sequence |
|
Sequence length |
262 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Liver failure |
Liver Failure |
rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682 View all (10 more) |
|
Osteoporosis |
Osteoporosis |
rs72658152, rs72667023, rs587776916, rs72656370, rs768615287 |
|
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Celiac disease |
Celiac Disease |
|
|
ClinVar |
Cirrhosis |
Cirrhosis |
|
|
ClinVar |
Biliary Cholangitis |
Biliary Cholangitis |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma of Lung |
Associate
|
32508318, 37770496 |
Breast Neoplasms |
Associate
|
26099425, 36581948, 37596527, 37684436 |
Carcinogenesis |
Associate
|
25070814 |
Colorectal Neoplasms |
Associate
|
34841706, 35969172 |
Coronary Disease |
Associate
|
23539213 |
Crohn Disease |
Associate
|
35158099 |
Heart Failure |
Associate
|
37684436 |
Hodgkin Disease |
Associate
|
26473286 |
Leukemia |
Associate
|
30986496, 36169277 |
Leukemia B Cell |
Associate
|
17353367 |
Leukemia Biphenotypic Acute |
Associate
|
36169277 |
Leukoencephalopathy Progressive Multifocal |
Associate
|
20826618, 24079660, 24554653 |
Liver Cirrhosis Biliary |
Associate
|
20639880, 22257840 |
Lung Neoplasms |
Associate
|
32129936, 35969172 |
Lymphedema |
Associate
|
11841448 |
Lymphoma |
Associate
|
27348272 |
Lymphoma Large B Cell Diffuse |
Associate
|
18765795, 24875472, 26099425, 27348272, 35969172, 36169277 |
Lymphoma Mantle Cell |
Associate
|
29695239 |
Lymphoma T Cell |
Associate
|
23165482 |
Multiple Sclerosis |
Associate
|
24079660 |
Neoplasm Metastasis |
Associate
|
30575323 |
Neoplasms |
Associate
|
23165482, 27462861, 34841706, 35969172, 37452634, 37770496 |
Neoplasms Squamous Cell |
Stimulate
|
23165482 |
Neuronal Ceroid Lipofuscinoses |
Associate
|
21863212 |
Ovarian Neoplasms |
Associate
|
37452634 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Inhibit
|
21084380 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
30986496 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
34599215 |
Stomach Neoplasms |
Associate
|
25070814 |
Waldenstrom Macroglobulinemia |
Associate
|
24801987 |
|