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  2. SPIB - Spi-B transcription factor Gene

SPIB - Spi-B transcription factor Gene

Homo sapiens

Also known as SPI-B

Gene ID: 6689 | Gene type: protein coding

About SPIB

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:50,418,938-50,431,314 (from NCBI)

This gene has 8 transcripts (splice variants), 99 orthologues, 28 paralogues and is associated with 1 phenotype. Biased expression in lymph node (RPKM 17.1), appendix (RPKM 10.5) and 7 other tissues.

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 2011]

SPIB Products(4)

mRNA Protein Name
NM_001243998.2 NP_001230927.1 transcription factor Spi-B isoform 2
NM_001243999.2 NP_001230928.1 transcription factor Spi-B isoform 3
NM_001244000.2 NP_001230929.2 transcription factor Spi-B isoform 4
NM_003121.5 NP_003112.2 transcription factor Spi-B isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific IMP
IMP: Inferred from mutant phenotype
10196196 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IMP
IMP: Inferred from mutant phenotype
10196196 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32814053 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence Reference Source
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
10196196 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SPIB Protein Structure

Ets

Ets: Ets-domain (169 - 253)

  • 0
  • 100
  • 200
  • 262 a.a.
Protein Preferred Names Protein Names

transcription factor Spi-B

Spi-B transcription factor (Spi-1/PU.1 related)

Related Diseases

Diseases Alias
Primary Biliary Cholangitis

Primary Biliary Cirrhosis

Biliary Liver Cirrhosis

Chronic Nonsuppurative Destructive Cholangitis

Familial Primary Biliary Cirrhosis

Pbc

Hanot Syndrome

Cholestatic Cirrhosis

Biliary Cirrhosis Primary

Liver Cirrhosis, Biliary

Hanot'S Cirrhosis

Biliary Cirrhosis

Pericholangiolic Biliary Cirrhosis

Tannhauser-Magendantz Syndrome

Hanot-Rossle Syndrome

Hypertrophic Cirrhosis

Todd Cirrhosis

Hanot Cirrhosis

Charcot Cirrhosis

Mahon-Tannhauser Syndrome

Toxic Cirrhosis

Hypertrophic Biliary Cirrhosis

Monolobular Cirrhosis

Unilobar Cirrhosis

Xanthomatous Biliary Cirrhosis

Burkitt Lymphoma

Burkitt'S Lymphoma

BL

Burkitt Lymphoma, Somatic

Burkitt Lymphoma/Leukaemia

Burkitt'S Tumor

Burkitt'S Tumor Or Lymphoma

Malignant Lymphoma, Burkitt'S Type

Small Non-Cleaved Cell Lymphoma, Burkitt'S Type

Small Non-Cleaved Cell Lymphoma

Burkitt Tumor

Burkitts Lymphoma

Lymphoma, Small Noncleaved-Cell

Burkitt Tumour

Diffuse Small Noncleaved Malignant Burkitt Lymphoma

Malignant Burkitt Lymphoma

“Burkitt-Like” Lymphoma

Undifferentiated Burkitt Lymphoma

Small Noncleaved Cell Burkitt Lymphoma

Mcd Diffuse Large B-Cell Lymphoma

Mcd Dlbcl

Doid:0081066

Pitt-Hopkins Syndrome

PTHS

Encephalopathy, Severe Epileptic, With Autonomic Dysfunction

Mental Retardation, Syndromal, With Intermittent Hyperventilation

Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea

Pitt Hopkins Syndrome

Phs

Encephalopathy Severe Epileptic With Autonomic Dysfunction

Progressive Multifocal Leukoencephalopathy

Pml

Leukoencephalopathy, Progressive Multifocal

Progressive Multifocal Leukoencephalitis

Leukoencephalopathy Progressive Multifocal

Pml - [Progressive Multifocal Leukoencephalopathy]

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus SPIB MGD MGI:892986
Rattus norvegicus SPIB RGD RGD:1565899