Gene

smarcb1b

ID
ZDB-GENE-991008-16
Name
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1b
Symbol
smarcb1b Nomenclature History
Previous Names
  • fc51b01
  • smarcb1
  • wu:fc51b01 (1)
Type
protein_coding_gene
Location
Chr: 21 Mapping Details/Browsers
Description
Predicted to have transcription coactivator activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to localize to SWI/SNF superfamily-type complex. Human ortholog(s) of this gene implicated in Coffin-Siris syndrome 3; atypical teratoid rhabdoid tumor; neurilemmomatosis; and rhabdoid cancer. Orthologous to human SMARCB1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Thisse et al., 2004
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With smarcb1b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
atypical teratoid rhabdoid tumor Alliance Rhabdoid tumors, somatic 609322
atypical teratoid rhabdoid tumor Alliance {Rhabdoid tumor predisposition syndrome 1} 609322
Coffin-Siris syndrome 3 Alliance Coffin-Siris syndrome 3 614608
neurilemmomatosis Alliance {Schwannomatosis-1, susceptibility to} 162091
Associated With smarcb1b Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR006939 SNF5/SMARCB1/INI1
Family IPR017393 Chromatin-remodeling complex component Sfh1/SNF5
Domain Details Per Protein
Protein Length Chromatin-remodeling complex component Sfh1/SNF5 SNF5/SMARCB1/INI1
UniProtKB:F1Q9N1 283
UniProtKB:E9QBQ8 210
UniProtKB:Q9PU60 239
UniProtKB:F1R4U9 370
UniProtKB:A0A2R8QP61 378
UniProtKB:Q5XJR9 370
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations