TBC1D22A - TBC1 domain family member 22A Gene

Also Known as C22orf4; HSC79E021

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 25771

About TBC1D22A

Cytogenetic location: 22q13.31 Genomic coordinates (GRCh38): 22:46,762,650-47,175,699 (from NCBI)

This gene has 11 transcripts (splice variants), 202 orthologues and 45 paralogues. Ubiquitous expression in spleen (RPKM 2.7), lymph node (RPKM 2.5) and 25 other tissues.

Summary

Enables 14-3-3 protein binding activity and protein homodimerization activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. [provided by Alliance of Genome Resources, Apr 2022]

TBC1D22A Products (5)

mRNA	Protein	Name
NM_001284303.2	NP_001271232.1	TBC1 domain family member 22A isoform b
NM_001284304.2	NP_001271233.1	TBC1 domain family member 22A isoform c
NM_001284305.2	NP_001271234.1	TBC1 domain family member 22A isoform d
NM_001410803.1	NP_001397732.1	TBC1 domain family member 22A isoform e
NM_014346.5	NP_055161.1	TBC1 domain family member 22A isoform a

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Références	Source
enables 14-3-3 protein binding	IDA IDA: Inferred from direct assay	23572552	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23572552	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	18186464	GOA

Biological Process GO Annotation	Evidence	Références	Source
NOT involved in regulation of cilium assembly	IMP IMP: Inferred from mutant phenotype	17646400	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TBC1D22A Protein Structure

RabGAP-TBC

0
100
200
300
400
517 a.a.

Protein Preferred Names	Protein Names
TBC1 domain family member 22A	putative GTPase activator

TBC1D22A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	TBC1D22A	Q8WUA7	ACBD3	Homo sapiens	Q9H3P7	Pull Down	23572552
Intra	TBC1D22A	Q8WUA7	ACBD3	Homo sapiens	Q9H3P7	Anti Tag CoIP	33961781
Intra	TBC1D22A	Q8WUA7	ACBD3	Homo sapiens	Q9H3P7	Anti Tag CoIP	23572552

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Epilepsy, Familial Temporal Lobe, 5	Familial Temporal Lobe Epilepsy 5 ETL5 Epilepsy, Temporal Lobe, Familial, Type 5
Febrile Seizures, Familial, 8	FEB8 Epilepsy, Childhood Absence 2 Generalized Epilepsy With Febrile Seizures Plus 3 Generalized Epilepsy With Febrile Seizures Plus, Type 3 Familial Febrile Seizures 8 Familial Febrile Convulsions 8 Epilepsy, Childhood Absence, Susceptibility To, 2 ECA2 GEFS+3 Gefs+ Type 3 Gefsp3 Epilepsy, Generalized, With Febrile Seizures Plus, Type 3
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Febrile Seizures, Familial, 3b GEFSP7 GEFS+7 Generalized Epilepsy With Febrile Seizures Plus 7 Gefs+, Type 7 Generalised Epilepsy With Febrile Seizures Plus 7 Generalised Epilepsy With Febrile Seizures Plus Type 7 Generalized Epilepsy With Febrile Seizures Plus Type 7 FEB3B Familial Febrile Convulsions 3 Gefs+ Type 7 Epilepsy, Generalized, With Febrile Seizures Plus, Type 7 Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Febrile Seizures, Familial, 3a GEFSP2 GEFS+2 Generalized Epilepsy With Febrile Seizures Plus 2 Gefs+, Type 2 Generalised Epilepsy With Febrile Seizures Plus 2 Generalised Epilepsy With Febrile Seizures Plus Type 2 Generalized Epilepsy With Febrile Seizures Plus Type 2 FEB3A Familial Febrile Convulsions 3 Gefs+ Type 2 Epilepsy, Generalized, With Febrile Seizures Plus, Type 2 Febrile Convulsions, Familial, 3a
Febrile Seizures, Familial, 4	FEB4 Convulsions, Familial Febrile, 4 Familial Febrile Seizures 4 Familial Febrile Convulsions 4

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS14236	TBC1D22A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TBC1D22A	VGNC	VGNC:47141
Rattus norvegicus	TBC1D22A	RGD	RGD:1306588
Bos taurus	TBC1D22A	VGNC	VGNC:35636
Felis catus	TBC1D22A	VGNC	VGNC:65981
Macaca mulatta	TBC1D22A	VGNC	VGNC:82077
Mus musculus	TBC1D22A	MGD	MGI:1289265
Others	TBC1D22A	NCBI