Gene

pacs2

ID

ZDB-GENE-081218-1

Name

phosphofurin acidic cluster sorting protein 2

Symbol

pacs2 Nomenclature History

Previous Names

None

Type

protein_coding_gene

Location

Chr: 13 Mapping Details/Browsers

Description

Predicted to have ion channel binding activity. Predicted to be involved in protein localization to plasma membrane. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 66. Orthologous to human PACS2 (phosphofurin acidic cluster sorting protein 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

No data available

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 1 Figure from Fu et al., 2008
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pacs2 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
developmental and epileptic encephalopathy 66	Alliance	Developmental and epileptic encephalopathy 66	618067

Associated With pacs2 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Family	IPR019381	Phosphofurin acidic cluster sorting protein 1

Domain Details Per Protein

Protein	Length	Phosphofurin acidic cluster sorting protein 1
UniProtKB:A0A8M3BET2 InterPro	888
UniProtKB:A0A8M3AZD0 InterPro	888
UniProtKB:A0A8M3B5F0 InterPro	889
UniProtKB:A0A8M3AZB0 InterPro	877
UniProtKB:B1NJ27 InterPro	878