TRPM5 (transient receptor potential cation channel subfamily M member 5) - Rat Genome Database
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Gene: TRPM5 (transient receptor potential cation channel subfamily M member 5) Homo sapiens
Analyze
Symbol: TRPM5
Name: transient receptor potential cation channel subfamily M member 5
RGD ID: 1321629
HGNC Page HGNC
Description: Predicted to have calcium activated cation channel activity and ligand-gated calcium channel activity. Predicted to be involved in calcium ion transmembrane transport. Predicted to localize to integral component of plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: long transient receptor potential channel 5; LTrpC-5; LTRPC5; MLSN1 and TRP-related; MLSN1- and TRP-related gene 1 protein; MTR1; transient receptor potential cation channel, subfamily M, member 5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl112,404,515 - 2,423,045 (-)EnsemblGRCh38hg38GRCh38
GRCh38112,403,962 - 2,423,424 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37112,425,745 - 2,444,275 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36112,382,336 - 2,400,851 (-)NCBINCBI36hg18NCBI36
Build 34112,382,335 - 2,400,851NCBI
Celera112,460,552 - 2,479,085 (-)NCBI
Cytogenetic Map11p15.5NCBI
HuRef112,216,098 - 2,234,573 (-)NCBIHuRef
CHM1_1112,424,619 - 2,443,104 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

Additional References at PubMed
PMID:10607831   PMID:10915772   PMID:12368808   PMID:12477932   PMID:14634208   PMID:14657398   PMID:15731110   PMID:16382100   PMID:17217064   PMID:19773279   PMID:20660057   PMID:21133676  
PMID:21489577   PMID:21873635   PMID:23741618   PMID:23844940   PMID:23884414   PMID:24019741   PMID:24288162   PMID:24952745   PMID:25967713   PMID:26546534   PMID:26571400   PMID:28366770  
PMID:30021884   PMID:32296183  


Genomics

Comparative Map Data
TRPM5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl112,404,515 - 2,423,045 (-)EnsemblGRCh38hg38GRCh38
GRCh38112,403,962 - 2,423,424 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37112,425,745 - 2,444,275 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36112,382,336 - 2,400,851 (-)NCBINCBI36hg18NCBI36
Build 34112,382,335 - 2,400,851NCBI
Celera112,460,552 - 2,479,085 (-)NCBI
Cytogenetic Map11p15.5NCBI
HuRef112,216,098 - 2,234,573 (-)NCBIHuRef
CHM1_1112,424,619 - 2,443,104 (-)NCBICHM1_1
Trpm5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397142,625,266 - 142,648,379 (-)NCBIGRCm39mm39
GRCm387143,071,529 - 143,094,642 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7143,069,153 - 143,094,642 (-)EnsemblGRCm38mm10GRCm38
MGSCv377150,257,434 - 150,280,547 (-)NCBIGRCm37mm9NCBIm37
MGSCv367142,881,182 - 142,898,998 (-)NCBImm8
Celera7142,827,134 - 142,850,247 (-)NCBICelera
Cytogenetic Map7F5NCBI
Trpm5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01216,256,653 - 216,281,504 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1216,257,820 - 216,274,930 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01223,118,600 - 223,141,136 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41203,347,410 - 203,364,520 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11203,500,862 - 203,517,973 (-)NCBI
Celera1195,824,918 - 195,842,028 (-)NCBICelera
Cytogenetic Map1q42NCBI
Trpm5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542214,180,475 - 14,196,955 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542214,180,067 - 14,202,041 (-)NCBIChiLan1.0ChiLan1.0
TRPM5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1112,456,418 - 2,475,989 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl112,456,831 - 2,475,989 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0112,428,185 - 2,448,070 (-)NCBIMhudiblu_PPA_v0panPan3
TRPM5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1846,478,759 - 46,498,043 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11846,479,397 - 46,493,279 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Trpm5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936794673,755 - 688,288 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRPM5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.121,646,597 - 1,664,935 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TRPM5
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.112,219,427 - 2,239,833 (-)NCBI
ChlSab1.1 Ensembl12,219,852 - 2,238,454 (-)Ensembl
Trpm5
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476715,215,714 - 15,236,189 (-)NCBI

Position Markers
TRPM5_2586  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,425,598 - 2,426,229UniSTSGRCh37
Build 36112,382,174 - 2,382,805RGDNCBI36
Celera112,460,405 - 2,461,036RGD
HuRef112,215,951 - 2,216,582UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1884
Count of miRNA genes:479
Interacting mature miRNAs:529
Transcripts:ENST00000155858, ENST00000452833, ENST00000528453, ENST00000533060, ENST00000533881
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 35 22 22 7 17 27
Low 740 5 1077 8 174 9 69 2 221 112 549 701 1 19
Below cutoff 1230 2079 380 367 1011 221 3278 1468 2932 138 749 684 151 961 2158 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000155858   ⟹   ENSP00000155858
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl112,404,515 - 2,423,045 (-)Ensembl
RefSeq Acc Id: ENST00000528453   ⟹   ENSP00000436809
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl112,404,909 - 2,423,042 (-)Ensembl
RefSeq Acc Id: ENST00000533060   ⟹   ENSP00000434121
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl112,404,903 - 2,423,042 (-)Ensembl
RefSeq Acc Id: ENST00000533881   ⟹   ENSP00000434383
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl112,404,515 - 2,423,012 (-)Ensembl
RefSeq Acc Id: NM_014555   ⟹   NP_055370
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38112,404,515 - 2,423,045 (-)NCBI
GRCh37112,425,745 - 2,444,275 (-)RGD
Build 36112,382,336 - 2,400,851 (-)NCBI Archive
Celera112,460,552 - 2,479,085 (-)RGD
HuRef112,216,098 - 2,234,573 (-)ENTREZGENE
CHM1_1112,424,619 - 2,443,104 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017628   ⟹   XP_016873117
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38112,403,962 - 2,423,424 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055370   ⟸   NM_014555
- UniProtKB: Q9NZQ8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016873117   ⟸   XM_017017628
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000434121   ⟸   ENST00000533060
RefSeq Acc Id: ENSP00000434383   ⟸   ENST00000533881
RefSeq Acc Id: ENSP00000155858   ⟸   ENST00000155858
RefSeq Acc Id: ENSP00000436809   ⟸   ENST00000528453
Protein Domains
Ion_trans   LSDAT_euk

Promoters
RGD ID:7219359
Promoter ID:EPDNEW_H15423
Type:initiation region
Name:TRPM5_1
Description:transient receptor potential cation channel subfamily M member5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38112,427,384 - 2,427,444EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 copy number gain See cases [RCV000050947] Chr11:196966..3377077 [GRCh38]
Chr11:196966..3398307 [GRCh37]
Chr11:186966..3354883 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 copy number gain See cases [RCV000050927] Chr11:196966..4435344 [GRCh38]
Chr11:196966..4456574 [GRCh37]
Chr11:186966..4413150 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 copy number gain See cases [RCV000053614] Chr11:218365..3377077 [GRCh38]
Chr11:218365..3398307 [GRCh37]
Chr11:208365..3354883 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|See cases [RCV000053592] Chr11:196966..3624139 [GRCh38]
Chr11:196966..3645369 [GRCh37]
Chr11:186966..3601945 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13
pathogenic
NM_014555.3(TRPM5):c.230C>T (p.Pro77Leu) single nucleotide variant Malignant melanoma [RCV000069303] Chr11:2422209 [GRCh38]
Chr11:2443439 [GRCh37]
Chr11:2400015 [NCBI36]
Chr11:11p15.5
not provided
NM_014555.3(TRPM5):c.1914G>A (p.Trp638Ter) single nucleotide variant Malignant melanoma [RCV000062190] Chr11:2413565 [GRCh38]
Chr11:2434795 [GRCh37]
Chr11:2391371 [NCBI36]
Chr11:11p15.5
not provided
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3 copy number gain See cases [RCV000136112] Chr11:1975511..2888695 [GRCh38]
Chr11:1996741..2909925 [GRCh37]
Chr11:1953317..2866501 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3 copy number gain See cases [RCV000136847] Chr11:1537379..3360769 [GRCh38]
Chr11:1558609..3381999 [GRCh37]
Chr11:1515185..3338575 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1 copy number loss See cases [RCV000137066] Chr11:1975511..3624139 [GRCh38]
Chr11:1996741..3645369 [GRCh37]
Chr11:1953317..3601945 [NCBI36]
Chr11:11p15.5-15.4
uncertain significance
GRCh38/hg38 11p15.5(chr11:2149352-2467542)x3 copy number gain See cases [RCV000137405] Chr11:2149352..2467542 [GRCh38]
Chr11:2170582..2488772 [GRCh37]
Chr11:2127158..2445348 [NCBI36]
Chr11:11p15.5
uncertain significance
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1 copy number loss See cases [RCV000142464] Chr11:1132899..3213923 [GRCh38]
Chr11:1126807..3235153 [GRCh37]
Chr11:1116807..3191729 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 copy number gain See cases [RCV000142890] Chr11:196855..5321874 [GRCh38]
Chr11:196855..5343104 [GRCh37]
Chr11:186855..5299680 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5(chr11:2106943-2565669)x3 copy number gain See cases [RCV000143587] Chr11:2106943..2565669 [GRCh38]
Chr11:2128173..2586899 [GRCh37]
Chr11:2084749..2543475 [NCBI36]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3 copy number gain See cases [RCV000446036] Chr11:193187..5291338 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 copy number gain See cases [RCV000449417] Chr11:230615..6644927 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Russell-Silver syndrome [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3
pathogenic
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3
pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13
pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5(chr11:2396666-2440989)x1 copy number loss not provided [RCV000737385] Chr11:2396666..2440989 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5(chr11:2432666-2436497)x3 copy number gain not provided [RCV000737386] Chr11:2432666..2436497 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5(chr11:2432666-2439033)x3 copy number gain not provided [RCV000737387] Chr11:2432666..2439033 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5(chr11:2432666-2441499)x3 copy number gain not provided [RCV000737388] Chr11:2432666..2441499 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5(chr11:2432666-2441607)x3 copy number gain not provided [RCV000737389] Chr11:2432666..2441607 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5(chr11:2434397-2439542)x3 copy number gain not provided [RCV000737390] Chr11:2434397..2439542 [GRCh37]
Chr11:11p15.5
benign
NM_014555.3(TRPM5):c.1271G>A (p.Arg424His) single nucleotide variant not provided [RCV000884329] Chr11:2415329 [GRCh38]
Chr11:2436559 [GRCh37]
Chr11:11p15.5
benign
NM_014555.3(TRPM5):c.942C>T (p.Thr314=) single nucleotide variant not provided [RCV000902790] Chr11:2417794 [GRCh38]
Chr11:2439024 [GRCh37]
Chr11:11p15.5
benign
NM_014555.3(TRPM5):c.1206C>T (p.Asn402=) single nucleotide variant not provided [RCV000906399] Chr11:2415394 [GRCh38]
Chr11:2436624 [GRCh37]
Chr11:11p15.5
benign
NM_014555.3(TRPM5):c.654T>A (p.Thr218=) single nucleotide variant not provided [RCV000947315] Chr11:2418587 [GRCh38]
Chr11:2439817 [GRCh37]
Chr11:11p15.5
benign
NM_014555.3(TRPM5):c.3406G>A (p.Gly1136Ser) single nucleotide variant not provided [RCV000968204] Chr11:2405029 [GRCh38]
Chr11:2426259 [GRCh37]
Chr11:11p15.5
benign
NM_014555.3(TRPM5):c.1722G>A (p.Ala574=) single nucleotide variant not provided [RCV000967186] Chr11:2414737 [GRCh38]
Chr11:2435967 [GRCh37]
Chr11:11p15.5
benign
NC_000011.9:g.(?_532616)_(2906985_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001032557] Chr11:532616..2906985 [GRCh37]
Chr11:11p15.5-15.4
uncertain significance
NM_014555.3(TRPM5):c.681C>T (p.Cys227=) single nucleotide variant not provided [RCV000947314] Chr11:2418560 [GRCh38]
Chr11:2439790 [GRCh37]
Chr11:11p15.5
benign
NM_014555.3(TRPM5):c.1365C>T (p.Pro455=) single nucleotide variant not provided [RCV000897295] Chr11:2415235 [GRCh38]
Chr11:2436465 [GRCh37]
Chr11:11p15.5
benign
NM_014555.3(TRPM5):c.1848C>T (p.Thr616=) single nucleotide variant not provided [RCV000889687] Chr11:2414103 [GRCh38]
Chr11:2435333 [GRCh37]
Chr11:11p15.5
benign
NM_014555.3(TRPM5):c.1499G>A (p.Arg500Gln) single nucleotide variant not provided [RCV000957631] Chr11:2415028 [GRCh38]
Chr11:2436258 [GRCh37]
Chr11:11p15.5
likely benign
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13
pathogenic
GRCh37/hg19 11p15.5(chr11:2209396-2520511)x3 copy number gain not provided [RCV001006373] Chr11:2209396..2520511 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3 copy number gain See cases [RCV001263059] Chr11:230615..4851537 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 copy number gain Russell-Silver syndrome [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14323 AgrOrtholog
COSMIC TRPM5 COSMIC
Ensembl Genes ENSG00000070985 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000155858 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000434121 UniProtKB/TrEMBL
  ENSP00000434383 UniProtKB/TrEMBL
  ENSP00000436809 UniProtKB/TrEMBL
Ensembl Transcript ENST00000155858 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000528453 UniProtKB/TrEMBL
  ENST00000533060 UniProtKB/TrEMBL
  ENST00000533881 UniProtKB/TrEMBL
GTEx ENSG00000070985 GTEx
HGNC ID HGNC:14323 ENTREZGENE
Human Proteome Map TRPM5 Human Proteome Map
InterPro Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRPM5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRPM_SLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:29850 UniProtKB/Swiss-Prot
NCBI Gene 29850 ENTREZGENE
OMIM 604600 OMIM
PANTHER PTHR13800:SF5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LSDAT_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37869 PharmGKB
UniGene Hs.272287 ENTREZGENE
UniProt A0A0C4DGF4_HUMAN UniProtKB/TrEMBL
  B7ZKS5_HUMAN UniProtKB/TrEMBL
  B7ZKS6_HUMAN UniProtKB/TrEMBL
  E9PQF7_HUMAN UniProtKB/TrEMBL
  E9PRW0_HUMAN UniProtKB/TrEMBL
  Q9NZQ8 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6NHS0 UniProtKB/Swiss-Prot
  Q52LU2 UniProtKB/Swiss-Prot
  Q9NY34 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 TRPM5  transient receptor potential cation channel subfamily M member 5    transient receptor potential cation channel, subfamily M, member 5  Symbol and/or name change 5135510 APPROVED