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

Also Known as TRP4; HTRP4; HTRP-4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7223

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
Molecular Function GO Annotation Evidence References Source
enables beta-catenin binding IPI
IPI: Inferred from physical interaction
19996314 GOA
enables cadherin binding IPI
IPI: Inferred from physical interaction
19996314 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15757897 GOA
enables store-operated calcium channel activity IMP
IMP: Inferred from mutant phenotype
16254212 GOA
Biological Process GO Annotation Evidence References Source
involved in calcium ion import IDA
IDA: Inferred from direct assay
19996314 GOA
Cellular Component GO Annotation Evidence References Source
located in basolateral plasma membrane IDA
IDA: Inferred from direct assay
19996314 GOA
part of calcium channel complex IDA
IDA: Inferred from direct assay
20164195 GOA
located in cell surface IDA
IDA: Inferred from direct assay
19996314 GOA
colocalizes with cell-cell junction IDA
IDA: Inferred from direct assay
19996314 GOA
located in cortical cytoskeleton IDA
IDA: Inferred from direct assay
16254212 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
16254212 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

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)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 977 a.a.
Protein Preferred Names Protein Names

short transient receptor potential channel 4

  • trp-related protein 4

TRPC4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TRPC4 Q9UBN4 MX1 Homo sapiens P20591 15757897
Cross: Cross-species interaction Intra: Intraspecies interaction

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
Others TRPC4 NCBI