Gene

ift52

ID

ZDB-GENE-040614-3

Name

intraflagellar transport 52 homolog (Chlamydomonas)

Symbol

ift52 Nomenclature History

Previous Names

None

Type

protein_coding_gene

Location

Chr: 11 Mapping Details/Browsers

Description

Involved in cilium assembly and intraciliary transport. Localizes to axoneme and ciliary basal body. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy. Is expressed in several structures, including Kupffer's vesicle; forerunner cell group; nervous system; neural tube; and pronephric duct. Orthologous to human IFT52 (intraflagellar transport 52).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

11 figures from 5 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:101779 (18 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 2 figures from Dupont et al., 2019
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With ift52 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		Short-rib thoracic dysplasia 16 with or without polydactyly	617102

Associated With ift52 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR019196	ABC-type uncharacterised transport system
Domain	IPR048643	Intraflagellar transport protein 52, C-terminal domain
Family	IPR039975	Intraflagellar transport protein 52 homolog
Homologous_superfamily	IPR029062	Class I glutamine amidotransferase-like