Gene

tbc1d24

ID

ZDB-GENE-050809-65

Name

TBC1 domain family, member 24

Symbol

tbc1d24 Nomenclature History

Previous Names

im:7158380
si:ch73-171a6.3

Type

protein_coding_gene

Location

Chr: 24 Mapping Details/Browsers

Description

Human ortholog(s) of this gene implicated in DOORS syndrome; epilepsy (multiple); and nonsyndromic deafness (multiple). Orthologous to human TBC1D24 (TBC1 domain family member 24).

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

IMAGE:7158380 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With tbc1d24 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal dominant nonsyndromic deafness 65	Alliance	Deafness, autosomal dominant 65	616044
autosomal recessive nonsyndromic deafness 86	Alliance	Deafness, autosomal recessive 86	614617
developmental and epileptic encephalopathy 16	Alliance	Developmental and epileptic encephalopathy 16	615338
DOORS syndrome	Alliance	DOORS syndrome	220500
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	Alliance	Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp	608105
		Myoclonic epilepsy, infantile, familial	605021

Associated With tbc1d24 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000195	Rab-GAP-TBC domain
Domain	IPR006571	TLDc domain
Homologous_superfamily	IPR035969	Rab-GAP-TBC domain superfamily

Domain Details Per Protein

Protein	Length	Rab-GAP-TBC domain	Rab-GAP-TBC domain superfamily	TLDc domain
UniProtKB:A0A8M1RN56 InterPro	606
UniProtKB:A0A8M3B6W1 InterPro	610
UniProtKB:A0A8M9PMI2 InterPro	569

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	tbc1d24-201 (1) Ensembl	Ensembl	6,167 nt	Select Tool
mRNA	tbc1d24-202 (1) Ensembl	Ensembl	1,665 nt	Select Tool ZFIN BLAST
mRNA	tbc1d24-203 (1) Ensembl	Ensembl	1,716 nt	Select Tool ZFIN BLAST
mRNA	tbc1d24-204 (1) Ensembl	Ensembl	1,683 nt	Select Tool ZFIN BLAST
mRNA	tbc1d24-205 (1) Ensembl	Ensembl	1,677 nt	Select Tool ZFIN BLAST

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