1. Gene
  2. TRPC3 - transient receptor potential cation channel subfamily C member 3 Gene

TRPC3 - transient receptor potential cation channel subfamily C member 3 Gene

Homo sapiens

Also known as TRP3; SCA41

Gene ID: 7222 | Gene type: protein coding

About TRPC3

Cytogenetic location: 4q27 Genomic coordinates (GRCh38): 4:121,874,481-121,952,060 (from NCBI)

This gene has 5 transcripts (splice variants), 160 orthologues, 5 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

Summary

The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

TRPC3 Products(3)

mRNA Protein Name
NM_001130698.2 NP_001124170.1 short transient receptor potential channel 3 isoform a
NM_001366479.2 NP_001353408.1 short transient receptor potential channel 3 isoform e
NM_003305.2 NP_003296.1 short transient receptor potential channel 3 isoform b
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables inositol 1,4,5 trisphosphate binding IDA
IDA: Inferred from direct assay
14505576 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10611319 GOA
Biological Process GO Annotation Evidence Reference Source
involved in calcium ion transmembrane transport IDA
IDA: Inferred from direct assay
21062895 GOA
involved in positive regulation of calcium ion transport into cytosol IDA
IDA: Inferred from direct assay
21062895 GOA
involved in positive regulation of cardiac muscle hypertrophy in response to stress IDA
IDA: Inferred from direct assay
19287093 GOA
involved in response to ATP IDA
IDA: Inferred from direct assay
21062895 GOA
involved in response to calcium ion IDA
IDA: Inferred from direct assay
21062895 GOA
Cellular Component GO Annotation Evidence Reference Source
located in plasma membrane IDA
IDA: Inferred from direct assay
9368034 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

TRPC3 Protein Structure

Ank_2

Ank_2: Ankyrin repeats (3 copies) (119 - 197)

TRP_2

TRP_2: Transient receptor ion channel II (267 - 329)

Ion_trans

Ion_trans: Ion transport protein (512 - 743)

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

short transient receptor potential channel 3

hTrp-3

Related Diseases

Diseases Alias
Spinocerebellar Ataxia 41

Spinocerebellar Ataxia Type 41

SCA41

Ataxia, Spinocerebellar, Type 41

Spinocerebellar Ataxia 14

Spinocerebellar Ataxia Type 14

SCA14

Ataxia, Spinocerebellar, Type 14

Cerebellar Ataxia Type 41

Sca41

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
Progressive Familial Heart Block

Hereditary Bundle Branch Defect

Hereditary Bundle Branch System Defect

Familial Lenegre Disease

Familial Lev Disease

Familial Lev-Lenegre Disease

Familial Pccd

Familial Progressive Heart Block

Pfhb

Bundle Branch Block

Hbbd

Lenegre Lev Disease

Lev Syndrome

Lev'S Disease

Lev-Lenègre Disease

Pccd

Progressive Cardiac Conduction Defect

Bundle-Branch Block

Sialolithiasis

Sialolith

Stone Of Salivary Gland Or Duct

Salivary Gland Calculi

Salivary Gland Stone

Calculus Of Salivary Gland Or Duct

Calculus Of Salivary Gland

Salivary Calculus

Salivary Gland Calculus

Salivary Stone

Salivary Duct Calculi

Sialodocholithiasis

Mucolipidosis Iv

Mucolipidosis Type Iv

ML4

Sialolipidosis

Mucolipidosis Type 4

Ganglioside Sialidase Deficiency

Mliv

Ml Iv

Berman Syndrome

Ganglioside Neuraminidase Deficiency

Ml 4

Mucolipidosis 4

Type Iv Mucolipidosis

Gangliosidoses

Stormorken Syndrome

Thrombocytopathy, Asplenia, And Miosis

Stormorken-Sjaastad-Langslet Syndrome

STRMK

York Platelet Syndrome

Yps

Thrombocytopathy, Asplenia And Miosis

Thrombocytopathy Asplenia Miosis

Thrombocytopathy-Asplenia-Miosis Syndrome

Miosis Disorder

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques

Olmsted Syndrome

Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques

Palmoplantar And Periorificial Keratoderma

Olms

Malignant Hyperthermia

Anesthesia Related Hyperthermia

Malignant Hyperpyrexia Due To Anesthesia

Hyperpyrexia, Malignant

Hyperthermia, Malignant

Malignant Hyperpyrexia

Mhs

Malignant Fever

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]

Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

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
Canis familiaris TRPC3 VGNC VGNC:47867
Macaca mulatta TRPC3 VGNC VGNC:78652
Bos taurus TRPC3 VGNC VGNC:36382
Mus musculus TRPC3 MGD MGI:109526
Rattus norvegicus TRPC3 RGD RGD:61973
Felis catus TRPC3 VGNC VGNC:66582
Others TRPC3 NCBI