Gene Gene information from NCBI Gene database.
Entrez ID 6689
Gene name Spi-B transcription factor
Gene symbol SPIB
Synonyms (NCBI Gene)
SPI-B
Chromosome 19
Chromosome location 19q13.33
Summary 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
miRNA miRNA information provided by mirtarbase database.
330
miRTarBase ID miRNA Experiments Reference
MIRT661108 hsa-miR-3664-5p HITS-CLIP 23824327
MIRT661107 hsa-miR-6504-3p HITS-CLIP 23824327
MIRT661106 hsa-miR-4639-3p HITS-CLIP 23824327
MIRT661105 hsa-miR-5693 HITS-CLIP 23824327
MIRT661104 hsa-miR-6499-3p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
POU2AF1 Unknown 24801987
POU2F2 Unknown 24801987
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IMP 10196196
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IMP 10196196
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606802 11242 ENSG00000269404
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
MLALEAAQLDGPHFSCLYPDGVFYDLDSCKHSSYPDSEGAPDSLWDWTVAPPVPATPYEA
FDPAAAAFSHPQAAQLCYEPPTYSPAGNLELAPSLEAPGPGLPAYPTENFASQTLVPPAY
APYPSPVLSEEEDLPLDSPALEVSDSESDEALVAGPEGKGSEAGTRKKLRLYQFLLGLLT
RGDMRECVWWVEPGAGVFQFSSKHKELLARRWGQQKGNRKRMTYQKLARALRNYAKTGEI
RKVKRKLTYQFD
SALLPAVRRA
Sequence length 262
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BILIARY CIRRHOSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, BILIARY CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CHOLANGITIS Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 8934542
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 24875472, 27348272
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 26473286
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 22257840
★☆☆☆☆
Found in Text Mining only
Biliary cirrhosis Biliary cirrhosis CTD_human_DG 20639880
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Biliary cirrhosis Biliary cirrhosis GWASCAT_DG 20639880, 21399635
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Biliary cirrhosis Biliary cirrhosis HPO_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Biliary Cirrhosis, Primary, 1 Biliary cirrhosis CTD_human_DG 20639880
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 26099425
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 26099425, 36581948, 37596527, 37684436 Associate
★☆☆☆☆
Found in Text Mining only