TRPM5

protein-coding

transient receptor potential cation channel subfamily M member 5, the group of Transient receptor potential cation channels

Gene summary

This gene encodes a member of the transient receptor potential (TRP) protein family, which is a diverse group of proteins with structural features typical of ion channels. This protein plays an important role in taste transduction, and has characteristics of a calcium-activated, non-selective cation channel that carries Na+, K+, and Cs+ ions equally well, but not Ca(2+) ions. It is activated by lower concentrations of intracellular Ca(2+), and inhibited by higher concentrations. It is also a highly temperature-sensitive, heat activated channel showing a steep increase of inward currents at temperatures between 15 and 35 degrees Celsius. This gene is located within the Beckwith-Wiedemann syndrome critical region-1 on chromosome 11p15.5, and has been shown to be imprinted, with exclusive expression from the paternal allele. [provided by RefSeq, Oct 2010]

MANE transcript

NM_014555.4

Inheritance

—

ClinVar variants

U:242B:35

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.77

Max pathogenic AF

—

Genomic locus

chr11:2,404,515-2,444,514

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~40.0 kb
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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TRPM5 variants in ClinVar

2 Conditions Cataloged
not specifiedTotal: 258
not providedTotal: 17

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014555.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
2
clinvar
7
clinvar
5
clinvar
14
missense
239
clinvar
21
clinvar
2
clinvar
262
nonsense
1
clinvar
1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total00242287277
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_014555.4RefSeqNP_055370.124MANE Select
ENST00000696290.1EnsemblENSP00000512529.124MANE Select
ENST00000528453.1EnsemblENSP00000436809.124Standard
ENST00000533060.5EnsemblENSP00000434121.124Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • Taste transduction - Homo sapiens (human)
  • Stimuli-sensing channels
  • Ion channel transport
  • Transport of small molecules
  • TRP channels

Biological Process

  • regulation of ion transmembrane transport
  • sodium ion transmembrane transport
  • sensory perception of taste
  • calcium ion transmembrane transport
  • potassium ion transmembrane transport

Molecular Function

  • ion channel activity
  • calcium activated cation channel activity
  • voltage-gated ion channel activity
  • potassium channel activity
  • sodium channel activity

Cellular Component

  • plasma membrane
  • integral component of membrane
  • dendrite
  • neuronal cell body

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000155858
Coding exons
24
Length
18531
Individuals with no LoFs
125498
Homozygous LoFs
0
Heterozygous LoFs
222
Defined
125720
p
0.000883
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense0.08367217270.9910.00004957416
Missense (PolyPhen)221254.010.870042768
Synonymous-1.163623351.080.00002482404
Loss of Function1.564052.10.7670.00000256583

Population LoF Frequency

PopulationCAFp-valueStatus
African0.00100.00092notable
Latino/Admixed American0.000770.00075rare
Ashkenazi Jewish0.000420.00040rare
East Asian0.000660.00065rare
Finnish0.000400.00037rare
European (Non-Finnish)0.00120.0011notable
South Asian0.000840.00082rare
Other0.00140.0013notable

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Voltage-modulated Ca(2+)-activated, monovalent cation channel (VCAM) that mediates a transient membrane depolarization and plays a central role in taste transduction. Monovalent- specific, non-selective cation channel that mediates the transport of Na(+), K(+) and Cs(+) ions equally well. Activated directly by increases in intracellular Ca(2+), but is impermeable to it. Gating is voltage-dependent and displays rapid activation and deactivation kinetics upon channel stimulation even during sustained elevations in Ca(2+). Also activated by a fast intracellular Ca(2+) increase in response to inositol 1,4,5- triphosphate-producing receptor agonists. The channel is blocked by extracellular acidification. External acidification has 2 effects, a fast reversible block of the current and a slower irreversible enhancement of current inactivation. Is a highly temperature-sensitive, heat activated channel showing a steep increase of inward currents at temperatures between 15 and 35 degrees Celsius. Heat activation is due to a shift of the voltage- dependent activation curve to negative potentials. Activated by arachidonic acid in vitro. May be involved in perception of bitter, sweet and umami tastes. May also be involved in sensing semiochemicals. {ECO:0000269|PubMed:14634208}.;

Intolerance Scores

LoFtool
0.422
RVIS EVS
-0.84
RVIS percentile EVS
11.29

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.477

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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