TRPM5

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

Basic information

Region (hg38): 11:2404515-2444514

Links

ENSG00000070985 ∙ NCBI:29850 ∙ OMIM:604600 ∙ HGNC:14323 ∙ Uniprot:Q9NZQ8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TRPM5 gene.

• not_specified (229 variants)
• not_provided (16 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRPM5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014555.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				6	5	11
missense			213	17	2	232
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	213	23	7

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRPM5	protein_coding	protein_coding	ENST00000155858	24	18531

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.44e-22	0.120	125498	0	222	125720	0.000883

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0836	721	727	0.991	0.0000495	7416
Missense in Polyphen		221	254.01	0.87004		2768
Synonymous	-1.16	362	335	1.08	0.0000248	2404
Loss of Function	1.56	40	52.1	0.767	0.00000256	583

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00178	0.00170
Ashkenazi Jewish	0.000416	0.000397
East Asian	0.000658	0.000653
Finnish	0.000398	0.000370
European (Non-Finnish)	0.00116	0.00109
Middle Eastern	0.000658	0.000653
South Asian	0.000842	0.000817
Other	0.00137	0.00130

dbNSFP

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}.
• Pathway: Taste transduction - Homo sapiens (human);Stimuli-sensing channels;Ion channel transport;Transport of small molecules;TRP channels (Consensus)

Intolerance Scores

• loftool: 0.422
• rvis_EVS: -0.84
• rvis_percentile_EVS: 11.29

Haploinsufficiency Scores

• pHI: 0.141
• hipred: N
• hipred_score: 0.300
• ghis: 0.505

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.477

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Trpm5
• Phenotype: immune system phenotype; hematopoietic system phenotype; normal phenotype; taste/olfaction phenotype

Gene ontology

• Biological process: regulation of ion transmembrane transport;sodium ion transmembrane transport;sensory perception of taste;calcium ion transmembrane transport;potassium ion transmembrane transport
• Cellular component: plasma membrane;integral component of membrane;dendrite;neuronal cell body
• Molecular function: ion channel activity;calcium activated cation channel activity;voltage-gated ion channel activity;potassium channel activity;sodium channel activity