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TRPM3 transient receptor potential cation channel subfamily M member 3 [ Homo sapiens (human) ]

Gene ID: 80036, updated on 28-Jun-2020

Summary

Official Symbol
TRPM3provided by HGNC
Official Full Name
transient receptor potential cation channel subfamily M member 3provided by HGNC
Primary source
HGNC:HGNC:17992
See related
Ensembl:ENSG00000083067 MIM:608961
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GON-2; MLSN2; LTRPC3
Summary
The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression
Biased expression in kidney (RPKM 3.0), brain (RPKM 0.8) and 2 other tissues See more
Orthologs

Genomic context

See TRPM3 in Genome Data Viewer
Location:
9q21.12-q21.13
Exon count:
30
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (70529060..71446971, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (73143979..74061782, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12362 Neighboring gene uncharacterized LOC105376079 Neighboring gene KLF9 divergent transcript Neighboring gene uncharacterized LOC107984011 Neighboring gene RNA, 7SL, cytoplasmic 726, pseudogene Neighboring gene uncharacterized LOC105376078 Neighboring gene uncharacterized LOC107987078 Neighboring gene microRNA 204 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class U pseudogene 1 Neighboring gene uncharacterized LOC107987079 Neighboring gene ribosomal protein L35a pseudogene 21 Neighboring gene HNF1 motif-containing MPRA enhancer 224 Neighboring gene cell migration inducing hyaluronidase 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
NHGRI GWA Catalog
Joint influence of small-effect genetic variants on human longevity.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium activated cation channel activity IEA
Inferred from Electronic Annotation
more info
 
calcium channel activity IEA
Inferred from Electronic Annotation
more info
 
cation channel activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
calcium ion transmembrane transport TAS
Traceable Author Statement
more info
 
cation transport IDA
Inferred from Direct Assay
more info
PubMed 
detection of temperature stimulus IEA
Inferred from Electronic Annotation
more info
 
protein tetramerization IEA
Inferred from Electronic Annotation
more info
 
sensory perception of temperature stimulus IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
transient receptor potential cation channel subfamily M member 3
Names
long transient receptor potential channel 3
melastatin-2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_047197.1 RefSeqGene

    Range
    330304..922865
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001007470.2NP_001007471.1  transient receptor potential cation channel subfamily M member 3 isoform c

    See identical proteins and their annotated locations for NP_001007471.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) contains a distinct 3' UTR and has an additional segment in the coding region, compared to variant 1. The resulting isoform (c) is shorter, and has a shorter C-terminus when compared to isoform 1.
    Source sequence(s)
    AF325212, AI370860, BC067733, CD104154, CD673832
    UniProtKB/TrEMBL
    Q6NW43, Q9H200
    Related
    ENSP00000379579.1, ENST00000396283.5
  2. NM_001007471.4NP_001007472.2  transient receptor potential cation channel subfamily M member 3 isoform k

    See identical proteins and their annotated locations for NP_001007472.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) differs in the 5' UTR and the 5' coding region, compared to variant 1. The resulting isoform (k) has a longer N-terminus when compared to isoform a.
    Source sequence(s)
    AL159990, AL161913, AL356318, AL358786, AL442645
    Consensus CDS
    CCDS43835.1
    UniProtKB/Swiss-Prot
    Q9HCF6
    Related
    ENSP00000366314.2, ENST00000377110.7
    Conserved Domains (1) summary
    pfam16519
    Location:12191270
    TRPM_tetra; Tetramerization domain of TRPM
  3. NM_001366141.2NP_001353070.1  transient receptor potential cation channel subfamily M member 3 isoform i

    Status: REVIEWED

    Source sequence(s)
    AL159990, AL356318, AL358786, AL391819, AL442645
    Conserved Domains (2) summary
    pfam16519
    Location:12211272
    TRPM_tetra; Tetramerisation domain of TRPM
    cl26777
    Location:8711189
    TRP_2; Transient receptor ion channel II
  4. NM_001366142.2NP_001353071.1  transient receptor potential cation channel subfamily M member 3 isoform j

    Status: REVIEWED

    Source sequence(s)
    AL159990, AL356318, AL358786, AL391819, AL442645
    Conserved Domains (2) summary
    pfam16519
    Location:12331284
    TRPM_tetra; Tetramerisation domain of TRPM
    cl26777
    Location:8831201
    TRP_2; Transient receptor ion channel II
  5. NM_001366143.2NP_001353072.1  transient receptor potential cation channel subfamily M member 3 isoform w

    Status: REVIEWED

    Source sequence(s)
    AL159990, AL356318, AL358786, AL391819, AL442645
    Conserved Domains (2) summary
    pfam16519
    Location:12211272
    TRPM_tetra; Tetramerisation domain of TRPM
    cl26777
    Location:8711189
    TRP_2; Transient receptor ion channel II
  6. NM_001366144.1NP_001353073.1  transient receptor potential cation channel subfamily M member 3 isoform l

    Status: REVIEWED

    Source sequence(s)
    AL159990, AL356318, AL391819
  7. NM_001366145.2NP_001353074.1  transient receptor potential cation channel subfamily M member 3 isoform m

    Status: REVIEWED

    Source sequence(s)
    AL159990, AL161913, AL356318, AL358786, AL442645
    Conserved Domains (2) summary
    pfam16519
    Location:12311282
    TRPM_tetra; Tetramerisation domain of TRPM
    cl26777
    Location:8811199
    TRP_2; Transient receptor ion channel II
  8. NM_001366146.2NP_001353075.1  transient receptor potential cation channel subfamily M member 3 isoform n

    Status: REVIEWED

    Source sequence(s)
    AL159990, AL161913, AL356318, AL358786, AL442645
    Conserved Domains (2) summary
    pfam16519
    Location:12311282
    TRPM_tetra; Tetramerisation domain of TRPM
    cl26777
    Location:8811199
    TRP_2; Transient receptor ion channel II
  9. NM_001366147.2NP_001353076.1  transient receptor potential cation channel subfamily M member 3 isoform o

    Status: REVIEWED

    Source sequence(s)
    AL159990, AL161913, AL356318, AL358786, AL442645
    Conserved Domains (2) summary
    pfam16519
    Location:12561307
    TRPM_tetra; Tetramerisation domain of TRPM
    cl26777
    Location:9061224
    TRP_2; Transient receptor ion channel II
  10. NM_001366148.2NP_001353077.1  transient receptor potential cation channel subfamily M member 3 isoform p

    Status: REVIEWED

    Source sequence(s)
    AL159990, AL161913, AL356318, AL358786, AL442645
    Conserved Domains (3) summary
    pfam16519
    Location:12461297
    TRPM_tetra; Tetramerisation domain of TRPM
    cl25602
    Location:12161325
    DUF3552; Domain of unknown function (DUF3552)
    cl26777
    Location:8961214
    TRP_2; Transient receptor ion channel II
  11. NM_001366149.2NP_001353078.1  transient receptor potential cation channel subfamily M member 3 isoform q

    Status: REVIEWED

    Source sequence(s)
    AL159990, AL161913, AL356318, AL358786, AL442645
    Conserved Domains (2) summary
    pfam16519
    Location:12211272
    TRPM_tetra; Tetramerisation domain of TRPM
    cl26777
    Location:8711189
    TRP_2; Transient receptor ion channel II
  12. NM_001366150.2NP_001353079.1  transient receptor potential cation channel subfamily M member 3 isoform r

    Status: REVIEWED

    Source sequence(s)
    AL159990, AL161913, AL356318, AL358786, AL442645
    Conserved Domains (2) summary
    pfam16519
    Location:12091260
    TRPM_tetra; Tetramerisation domain of TRPM
    cl26777
    Location:8591177
    TRP_2; Transient receptor ion channel II
  13. NM_001366151.2NP_001353080.1  transient receptor potential cation channel subfamily M member 3 isoform s

    Status: REVIEWED

    Source sequence(s)
    AL159990, AL161913, AL356318, AL358786, AL442645
    Related
    ENSP00000366315.2, ENST00000377111.6
    Conserved Domains (2) summary
    pfam16519
    Location:12191270
    TRPM_tetra; Tetramerisation domain of TRPM
    cl26777
    Location:8691187
    TRP_2; Transient receptor ion channel II
  14. NM_001366152.2NP_001353081.1  transient receptor potential cation channel subfamily M member 3 isoform t

    Status: REVIEWED

    Source sequence(s)
    AL159990, AL161913, AL356318, AL358786, AL442645
    Conserved Domains (3) summary
    pfam16519
    Location:12561307
    TRPM_tetra; Tetramerisation domain of TRPM
    cl25602
    Location:12261335
    DUF3552; Domain of unknown function (DUF3552)
    cl26777
    Location:9061224
    TRP_2; Transient receptor ion channel II
  15. NM_001366153.1NP_001353082.1  transient receptor potential cation channel subfamily M member 3 isoform u

    Status: REVIEWED

    Source sequence(s)
    AL159990, AL161913, AL356318
  16. NM_001366154.2NP_001353083.1  transient receptor potential cation channel subfamily M member 3 isoform v

    Status: REVIEWED

    Source sequence(s)
    AL159990, AL356318, AL358786, AL442645
    Conserved Domains (2) summary
    pfam16519
    Location:10781129
    TRPM_tetra; Tetramerisation domain of TRPM
    cl26777
    Location:7281046
    TRP_2; Transient receptor ion channel II
  17. NM_020952.6NP_066003.3  transient receptor potential cation channel subfamily M member 3 isoform a

    See identical proteins and their annotated locations for NP_066003.3

    Status: REVIEWED

    Source sequence(s)
    AL159990, AL356318, AL358786, AL442645
    Related
    ENSP00000379581.1, ENST00000396285.5
    Conserved Domains (1) summary
    pfam16519
    Location:10661117
    TRPM_tetra; Tetramerization domain of TRPM
  18. NM_024971.6NP_079247.5  transient receptor potential cation channel subfamily M member 3 isoform b

    See identical proteins and their annotated locations for NP_079247.5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an additional segment in the coding region, compared to variant 1. The resulting isoform (b) has the same N- and C-termini and is longer compared to isoform a.
    Source sequence(s)
    AL159990, AL356318, AL358786, AL442645
    Consensus CDS
    CCDS6634.1
    UniProtKB/TrEMBL
    G5E9G1
    Related
    ENSP00000366309.1, ENST00000377105.5
    Conserved Domains (1) summary
    pfam16519
    Location:10781129
    TRPM_tetra; Tetramerization domain of TRPM
  19. NM_206944.5NP_996827.3  transient receptor potential cation channel subfamily M member 3 isoform d

    See identical proteins and their annotated locations for NP_996827.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (d) has the same N- and C-termini and is shorter compared to isoform a.
    Source sequence(s)
    AL159990, AL356318, AL358786, AL442645
    Conserved Domains (1) summary
    pfam16519
    Location:10561107
    TRPM_tetra; Tetramerization domain of TRPM
  20. NM_206945.5NP_996828.3  transient receptor potential cation channel subfamily M member 3 isoform e

    See identical proteins and their annotated locations for NP_996828.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains one alternate in-frame exon and lacks another compared to variant 1. The resulting isoform (e) has the same N- and C-termini and is longer compared to isoform a.
    Source sequence(s)
    AL159990, AL356318, AL358786, AL442645
    Consensus CDS
    CCDS65064.1
    UniProtKB/TrEMBL
    H7BYP1
    Related
    ENSP00000379576.5, ENST00000396280.9
    Conserved Domains (1) summary
    pfam16519
    Location:10681119
    TRPM_tetra; Tetramerization domain of TRPM
  21. NM_206946.5NP_996829.3  transient receptor potential cation channel subfamily M member 3 isoform f

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate in-frame exon compared to variant 1. The resulting isoform (f) has the same N- and C-termini and is longer compared to isoform a.
    Source sequence(s)
    AL159990, AL356318, AL358786, AL442645
    Consensus CDS
    CCDS6635.1
    UniProtKB/TrEMBL
    E9PBI7
    Related
    ENSP00000379587.4, ENST00000396292.8
    Conserved Domains (1) summary
    pfam16519
    Location:10911142
    TRPM_tetra; Tetramerization domain of TRPM
  22. NM_206947.4NP_996830.3  transient receptor potential cation channel subfamily M member 3 isoform g

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains one alternate in-frame exon and lacks another compared to variant 1. The resulting isoform (g) has the same N- and C-termini and is longer compared to isoform a.
    Source sequence(s)
    AL159990, AL356318, AL358786, AL442645
    Consensus CDS
    CCDS6636.1
    UniProtKB/TrEMBL
    A2A3F4
    Related
    ENSP00000354066.2, ENST00000360823.6
    Conserved Domains (1) summary
    pfam16519
    Location:10811132
    TRPM_tetra; Tetramerization domain of TRPM
  23. NM_206948.3NP_996831.1  transient receptor potential cation channel subfamily M member 3 isoform h

    See identical proteins and their annotated locations for NP_996831.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 3' UTR and coding region compared to variant 1. The resulting isoform (h) has the same N-terminus but is shorter at the C-terminus compared to isoform a.
    Source sequence(s)
    AF325212, AI370860, CD104154, CD673832
    Consensus CDS
    CCDS6637.1
    UniProtKB/Swiss-Prot
    Q9HCF6
    UniProtKB/TrEMBL
    Q9H200
    Related
    ENSP00000355395.4, ENST00000361823.9

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    70529060..71446971 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519045.2XP_011517347.1  transient receptor potential cation channel subfamily M member 3 isoform X18

    Conserved Domains (1) summary
    pfam16519
    Location:12111262
    TRPM_tetra; Tetramerization domain of TRPM
  2. XM_011519042.3XP_011517344.1  transient receptor potential cation channel subfamily M member 3 isoform X15

    UniProtKB/TrEMBL
    A2A3F7
    Related
    ENSP00000350140.2, ENST00000357533.6
    Conserved Domains (1) summary
    pfam16519
    Location:12231274
    TRPM_tetra; Tetramerization domain of TRPM
  3. XM_011519040.3XP_011517342.1  transient receptor potential cation channel subfamily M member 3 isoform X13

    Conserved Domains (1) summary
    pfam16519
    Location:12331284
    TRPM_tetra; Tetramerization domain of TRPM
  4. XM_011519046.3XP_011517348.1  transient receptor potential cation channel subfamily M member 3 isoform X19

    UniProtKB/Swiss-Prot
    Q9HCF6
    Conserved Domains (1) summary
    pfam16519
    Location:12091260
    TRPM_tetra; Tetramerization domain of TRPM
  5. XM_011519039.3XP_011517341.1  transient receptor potential cation channel subfamily M member 3 isoform X12

    UniProtKB/Swiss-Prot
    Q9HCF6
    Conserved Domains (1) summary
    pfam16519
    Location:12341285
    TRPM_tetra; Tetramerization domain of TRPM
  6. XM_011519038.3XP_011517340.1  transient receptor potential cation channel subfamily M member 3 isoform X11

    See identical proteins and their annotated locations for XP_011517340.1

    UniProtKB/Swiss-Prot
    Q9HCF6
    Conserved Domains (1) summary
    pfam16519
    Location:12441295
    TRPM_tetra; Tetramerization domain of TRPM
  7. XM_011519037.3XP_011517339.1  transient receptor potential cation channel subfamily M member 3 isoform X10

    Conserved Domains (1) summary
    pfam16519
    Location:12461297
    TRPM_tetra; Tetramerization domain of TRPM
  8. XM_024447683.1XP_024303451.1  transient receptor potential cation channel subfamily M member 3 isoform X4

    Conserved Domains (2) summary
    pfam16519
    Location:780831
    TRPM_tetra; Tetramerisation domain of TRPM
    cl26777
    Location:430748
    TRP_2; Transient receptor ion channel II
  9. XM_024447686.1XP_024303454.1  transient receptor potential cation channel subfamily M member 3 isoform X7

    Conserved Domains (2) summary
    pfam16519
    Location:790841
    TRPM_tetra; Tetramerisation domain of TRPM
    cl26777
    Location:440758
    TRP_2; Transient receptor ion channel II
  10. XM_024447682.1XP_024303450.1  transient receptor potential cation channel subfamily M member 3 isoform X3

    Conserved Domains (2) summary
    pfam16519
    Location:790841
    TRPM_tetra; Tetramerisation domain of TRPM
    cl26777
    Location:440758
    TRP_2; Transient receptor ion channel II
  11. XM_024447685.1XP_024303453.1  transient receptor potential cation channel subfamily M member 3 isoform X6

    Conserved Domains (2) summary
    pfam16519
    Location:792843
    TRPM_tetra; Tetramerisation domain of TRPM
    cl26777
    Location:442760
    TRP_2; Transient receptor ion channel II
  12. XM_024447681.1XP_024303449.1  transient receptor potential cation channel subfamily M member 3 isoform X2

    Conserved Domains (3) summary
    pfam16519
    Location:792843
    TRPM_tetra; Tetramerisation domain of TRPM
    cl25602
    Location:762871
    DUF3552; Domain of unknown function (DUF3552)
    cl26777
    Location:442760
    TRP_2; Transient receptor ion channel II
  13. XM_024447684.1XP_024303452.1  transient receptor potential cation channel subfamily M member 3 isoform X5

    Conserved Domains (2) summary
    pfam16519
    Location:802853
    TRPM_tetra; Tetramerisation domain of TRPM
    cl26777
    Location:452770
    TRP_2; Transient receptor ion channel II
  14. XM_017015156.1XP_016870645.1  transient receptor potential cation channel subfamily M member 3 isoform X1

  15. XM_024447687.1XP_024303455.1  transient receptor potential cation channel subfamily M member 3 isoform X8

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