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Protein Coding Gene : Srebf2 sterol regulatory element binding factor 2

Primary Identifier  MGI:107585 Organism  mouse, laboratory
Chromosome  15 NCBI Gene Number  20788
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables DNA-binding transcription factor activity, RNA polymerase II-specific and transcription cis-regulatory region binding activity. Involved in positive regulation of cholesterol biosynthetic process; positive regulation of miRNA transcription; and positive regulation of myelination. Acts upstream of or within cholesterol homeostasis and positive regulation of transcription by RNA polymerase II. Located in cytoplasm; membrane; and nucleus. Is expressed in several structures, including 1st branchial arch; genitourinary system; limb; nervous system; and retina. Human ortholog(s) of this gene implicated in carotid artery disease; diabetes mellitus (multiple); prostate cancer; sarcoma; and vascular dementia. Orthologous to human SREBF2 (sterol regulatory element binding transcription factor 2).
PHENOTYPE: Mice homozygous for a null allele display prenatal lethality. Mice homozygous for an ENU mutation display cataracts and persistent wounds of the skin. [provided by MGI curators]
  • synonyms:
  • nuclear cataract,
  • MGD-MRK-11854,
  • SREBP-2,
  • expressed sequence AI608257,
  • nuc,
  • MGI:2146048,
  • SREBP2,
  • MGD-MRK-36157,
  • sterol regulatory element binding factor 2,
  • lop13,
  • MGD-MRK-12947,
  • bHLHd2,
  • SREBP2gc,
  • lens opacity 13,
  • MGI:96806,
  • AI608257,
  • Srebf2

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

3 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

0 Driver For