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Protein Coding Gene : Unc13d unc-13 homolog D

Primary Identifier  MGI:1917700 Organism  mouse, laboratory
Chromosome  11 NCBI Gene Number  70450
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable small GTPase binding activity. Involved in positive regulation of substrate adhesion-dependent cell spreading. Acts upstream of or within several processes, including defense response to symbiont; germinal center formation; and granuloma formation. Predicted to be located in Weibel-Palade body; cytosol; and lysosome. Predicted to be active in exocytic vesicle. Used to study familial hemophagocytic lymphohistiocytosis 3. Human ortholog(s) of this gene implicated in familial hemophagocytic lymphohistiocytosis 3. Orthologous to human UNC13D (unc-13 homolog D).
PHENOTYPE: Targeted deletion of this gene leads to defective hemostasis, abrogated thrombus formation and protection of homozygotes from ischemic stroke in the absence of intracranial bleeding. Homozygous ENU mutant mice are sensitive to infection by mouse cytomegalovirus. [provided by MGI curators]
  • synonyms:
  • Munc13-4,
  • unc-13 homolog D,
  • RIKEN cDNA 2610108D09 gene,
  • Jinx,
  • 2610108D09Rik,
  • MGI:3626342,
  • Unc13d

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

0 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

3 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