Gene

atp6ap2

ID
ZDB-GENE-040426-1960
Name
ATPase H+ transporting accessory protein 2
Symbol
atp6ap2 Nomenclature History
Previous Names
  • pn (1)
  • pekin (1)
  • wu:fj36c03
  • wu:fq15e04
  • zgc:73194
Type
protein_coding_gene
Location
Chr: 22 Mapping Details/Browsers
Description
Predicted to have signaling receptor activity. Involved in intrahepatic bile duct development. Predicted to localize to external side of plasma membrane. Human ortholog(s) of this gene implicated in syndromic X-linked intellectual disability Hedera type. Is expressed in central nervous system; digestive system; mucus secreting cell; notochord; and yolk syncytial layer. Orthologous to human ATP6AP2 (ATPase H+ transporting accessory protein 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
9 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
5 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With atp6ap2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
syndromic X-linked intellectual disability Hedera type Alliance Intellectual developmental disorder, X-linked, syndromic, Hedera type 300423
X-linked parkinsonism-spasticity syndrome Alliance ?Parkinsonism with spasticity, X-linked 300911
Congenital disorder of glycosylation, type IIr 301045
Associated With atp6ap2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR012493 Renin receptor-like
Domain Details Per Protein
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