Gene

ift172

ID

ZDB-GENE-040827-1

Name

intraflagellar transport 172

Symbol

ift172 Nomenclature History

Previous Names

moe (1)
LIM-interacting protein (1)

Type

protein_coding_gene

Location

Chr: 20 Mapping Details/Browsers

Description

Acts upstream of or within several processes, including photoreceptor cell maintenance; regulation of TOR signaling; and retina development in camera-type eye. Predicted to be located in cilium. Predicted to be part of intraciliary transport particle B. Predicted to be active in axoneme and ciliary basal body. Used to study cystic kidney disease and polycystic kidney disease. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 20; retinitis pigmentosa 71; and short-rib thoracic dysplasia 10 with or without polydactyly. Orthologous to human IFT172 (intraflagellar transport 172).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Zhu et al., 2021

Cross-Species Comparison

High Throughput Data

GEO (1)

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: 28 figures from 17 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With ift172 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Bardet-Biedl syndrome 20	Alliance	Bardet-Biedl syndrome 20	619471
retinitis pigmentosa 71	Alliance	Retinitis pigmentosa 71	616394
short-rib thoracic dysplasia 10 with or without polydactyly	Alliance	Short-rib thoracic dysplasia 10 with or without polydactyly	615630

Associated With ift172 Via Experimental Models

Human Disease	Fish	Conditions	Citations
cystic kidney disease	li1Tg + MO3-ift172	control	Pandey et al., 2019
polycystic kidney disease	ift172^{hi2211Tg/hi2211Tg} (AB/TU)	standard conditions	Cao et al., 2009

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Homologous_superfamily	IPR015943	WD40/YVTN repeat-like-containing domain superfamily
Homologous_superfamily	IPR036322	WD40-repeat-containing domain superfamily
Repeat	IPR001680	WD40 repeat