Gene

si:ch211-185a18.2

ID

ZDB-GENE-120119-1

Name

si:ch211-185a18.2

Symbol

si:ch211-185a18.2 Nomenclature History

Previous Names

kiaa0586 (1)
ta3 (1)
talpid3 (1)

Type

protein_coding_gene

Location

Chr: 17 Mapping Details/Browsers

Description

Involved in cilium assembly; photoreceptor cell outer segment organization; and smoothened signaling pathway. Localizes to centriole and ciliary basal body. Human ortholog(s) of this gene implicated in Joubert syndrome 23 and short-rib thoracic dysplasia 14 with polydactyly. Is expressed in eye photoreceptor cell. Orthologous to human KIAA0586 (KIAA0586).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

2 figures from 2 publications

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: 11 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With si:ch211-185a18.2 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Joubert syndrome 23	Alliance	Joubert syndrome 23	616490
short-rib thoracic dysplasia 14 with polydactyly	Alliance	Short-rib thoracic dysplasia 14 with polydactyly	616546

Associated With si:ch211-185a18.2 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Family	IPR029246	Protein TALPID3

Domain Details Per Protein

Protein	Length	Protein TALPID3
UniProtKB:H6D7E6 InterPro	1554

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	cu179699.1-201 (1) Ensembl	Ensembl	615 nt	Select Tool
mRNA	si:ch211-185a18.2-202 (1) Ensembl	Ensembl	2,109 nt	Select Tool
mRNA	si:ch211-185a18.2-203 (1) Ensembl	Ensembl	5,745 nt	Select Tool ZFIN BLAST
mRNA	si:ch211-185a18.2-204 (1) Ensembl	Ensembl	5,634 nt	Select Tool ZFIN BLAST
mRNA	si:ch211-185a18.2-205 (1) Ensembl	Ensembl	5,616 nt	Select Tool ZFIN BLAST
ncRNA	si:ch211-185a18.2-002 (1) Ensembl	Ensembl	288 nt	Select Tool

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-talpid3	polyclonal	si:ch211-185a18.2		Rabbit	IHC		1

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations