|  Help  |  About  |  Contact Us

Protein Coding Gene : Satb2 special AT-rich sequence binding protein 2

Primary Identifier  MGI:2679336 Organism  mouse, laboratory
Chromosome  1 NCBI Gene Number  212712
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and chromatin binding activity. Acts upstream of or within several processes, including osteoblast development; regulation of transcription by RNA polymerase II; and skeletal system development. Located in nucleus. Part of histone deacetylase complex and transcription regulator complex. Is expressed in several structures, including 1st branchial arch; cerebral cortex; facial prominence; genitourinary system; and limb. Used to study isolated cleft palate. Human ortholog(s) of this gene implicated in SATB2-associated syndrome. Orthologous to human SATB2 (SATB homeobox 2).
PHENOTYPE: Homozygous inactivation of this gene causes complete perinatal lethality and craniofacial anomalies, such as cleft palate, micrognathia, microcephaly, decreased tongue size, absent incisors and nasal capsule hypoplasia, and leads to short limbs and defects in osteoblast differentiation and function. [provided by MGI curators]
  • synonyms:
  • mKIAA1034,
  • special AT-rich sequence binding protein 2,
  • BAP002,
  • Satb2,
  • MGI:5425477,
  • bone alkaline phospatase mutant 002

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

5 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

5 Driver For