1. Gene
  2. TRPC4 - transient receptor potential cation channel subfamily C member 4 Gene

TRPC4 - transient receptor potential cation channel subfamily C member 4 Gene

Homo sapiens

Also known as TRP4; HTRP4; HTRP-4

Gene ID: 7223 | Gene type: protein coding

About TRPC4

Cytogenetic location: 13q13.3 Genomic coordinates (GRCh38): 13:37,632,063-37,869,772 (from NCBI)

This gene has 10 transcripts (splice variants), 279 orthologues and 5 paralogues. Biased expression in endometrium (RPKM 6.2), prostate (RPKM 2.5) and 8 other tissues.

Summary

This gene encodes a member of the canonical subfamily of transient receptor potential cation channels. The encoded protein forms a non-selective calcium-permeable cation channel that is activated by Gq-coupled receptors and tyrosine kinases, and plays a role in multiple processes including endothelial permeability, vasodilation, neurotransmitter release and cell proliferation. Single nucleotide polymorphisms in this gene may be associated with generalized epilepsy with photosensitivity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]

TRPC4 Products(9)

mRNA Protein Name
NM_001135955.3 NP_001129427.1 short transient receptor potential channel 4 isoform beta
NM_001135956.3 NP_001129428.1 short transient receptor potential channel 4 isoform gamma
NM_001135957.3 NP_001129429.1 short transient receptor potential channel 4 isoform delta
NM_001135958.3 NP_001129430.1 short transient receptor potential channel 4 isoform zeta
NM_001354799.2 NP_001341728.1 short transient receptor potential channel 4 isoform eta
NM_001354806.2 NP_001341735.1 short transient receptor potential channel 4 isoform eta
NM_001372055.1 NP_001358984.1 short transient receptor potential channel 4 isoform eta
NM_003306.3 NP_003297.1 short transient receptor potential channel 4 isoform epsilon
NM_016179.4 NP_057263.1 short transient receptor potential channel 4 isoform alpha

TRPC4 Protein Structure

Ank_2

Ank_2: Ankyrin repeats (3 copies) (38 - 119)

Ank

Ank: Ankyrin repeat (143 - 168)

TRP_2

TRP_2: Transient receptor ion channel II (176 - 238)

Ion_trans

Ion_trans: Ion transport protein (405 - 620)

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  • 977 a.a.
Protein Preferred Names Protein Names

short transient receptor potential channel 4

trp-related protein 4

Related Diseases

Diseases Alias
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques

Olmsted Syndrome

Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques

Palmoplantar And Periorificial Keratoderma

Olms

Oculoectodermal Syndrome

Aplasia Cutis Congenita With Epibulbar Dermoids

Toriello-Lacassie-Droste Syndrome

Oculoectodermal Syndrome, Somatic

OES

Aplasia Cutis Congenita-Epibulbar Dermoids Syndrome

Oculo-Ectodermal Syndrome

Toriello Lacassie Droste Syndrome

Darier-White Disease

Keratosis Follicularis

Darier Disease

Darier'S Disease

DAR

DD

Darier White Disease

Darier Disease Acral Hemorrhagic Type

Darier Disease Segmental

Darier Disease, Acral Hemorrhagic Type

Darier Disease, Segmental

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Immunodeficiency 10

Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2

Combined Immunodeficiency Due To Stim1 Deficiency

IMD10

Stim1 Deficiency

Cid Due To Stim1 Deficiency

Immune Dysfunction, With T-Cell Inactivation Due To Calcium Entry Defect 2

Immunodeficiency, Type 10

T Cell And Nk Cell Immunodeficiency
Photosensitive Epilepsy

Pse

Photogenic Epilepsy

Photoparoxysmal Response

Reflex Epilepsy, Photosensitive

Photoparoxysmal Response 1

Autosomal Dominant Polycystic Kidney Disease

Polycystic Kidney Disease, Adult Type

Adpkd

Polycystic Kidney Diseases

Polycystic Kidney, Autosomal Dominant

Congenital Biliary Ectasias

Polycystic Kidney And Hepatic Disease 1

Polycystic Kidney Disease, Autosomal Dominant

Kidney, Polycystic, Disease, Autosomal Dominant

Adult Polycystic Kidney Disease

Polycystic Kidney, Adult Type

Apckd - [Autosomal Polycystic Kidney Disease]

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

Orthologs Information

Species Symbol Source ID
Bos taurus TRPC4 VGNC VGNC:36383
Mus musculus TRPC4 MGD MGI:109525
Canis familiaris TRPC4 VGNC VGNC:47868
Macaca mulatta TRPC4 VGNC VGNC:106307
Rattus norvegicus TRPC4 RGD RGD:621276
Felis catus TRPC4 VGNC VGNC:66583