help  | about  | cite  | software

Gene : PPIP5K2 Homo sapiens

Name  ? diphosphoinositol pentakisphosphate kinase 2 Cytological Location  5q21.1
Brief Description  diphosphoinositol pentakisphosphate kinase 2
Description  This gene encodes a member of the histidine acid phosphatase family of proteins. Despite containing a histidine acid phosphatase domain, the encoded protein functions as an inositol pyrophosphate kinase, and is thought to lack phosphatase activity. This kinase activity is the mechanism by which the encoded protein synthesizes high-energy inositol pyrophosphates, which act as signaling molecules that regulate cellular homeostasis and other processes. This gene may be associated with autism spectrum disorder in human patients. [provided by RefSeq, Sep 2016]
  • synonyms:
  • PPIP5K2,
  • CFAP160,
  • deafness, autosomal recessive 100,
  • AB007893,
  • HISPPD1,
  • histidine acid phosphatase domain containing 1,
  • VIP2,
  • DFNB100,
  • NM_015216,
  • CFAP160,
  • IP7K2,
  • HGNC:29035,
  • HISPPD1,
  • uc063fui.1,
  • VIP2,
  • DFNB100,
  • OTTHUMG00000181461,
  • KIAA0433
  • identifiers:
  • 23262,
  • ENSG00000145725,
  • PPIP5K2

Genome feature

Region: gene ? Length: 92527  
Location: 5:103120273-103212799 Cyto location: 5q21.1


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

3753 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results