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

    Gene ID: 80036, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:17992
    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; NEDFSS; CTRCT50
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TRPM3 in Genome Data Viewer
    Location:
    9q21.12-q21.13
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (70529060..71446971, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (82695847..83597417, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (73143976..74061887, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900273 Neighboring gene KLF9-II enhancer Neighboring gene ReSE screen-validated silencer GRCh37_chr9:73027338-73027530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28451 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:73028054-73028907 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19943 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:73033721-73034442 Neighboring gene Sharpr-MPRA regulatory region 12362 Neighboring gene uncharacterized LOC105376079 Neighboring gene KLF9-I enhancer Neighboring gene KLF9 divergent transcript Neighboring gene MPRA-validated peak7263 silencer Neighboring gene KLF transcription factor 9 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:73215684-73216883 Neighboring gene uncharacterized LOC107984011 Neighboring gene RNA, 7SL, cytoplasmic 726, pseudogene Neighboring gene uncharacterized LOC105376078 Neighboring gene uncharacterized LOC107987078 Neighboring gene Sharpr-MPRA regulatory region 13756 Neighboring gene microRNA 204 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:73568858-73570057 Neighboring gene uncharacterized LOC124902180 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class U pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chr9:73663060-73663561 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:73735345-73736182 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:73785941-73786486 Neighboring gene Sharpr-MPRA regulatory region 9385 Neighboring gene uncharacterized LOC107987079 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:74167128-74167628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:74167629-74168129 Neighboring gene ribosomal protein L35a pseudogene 21 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:74304891-74306090 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:74358750-74359614 Neighboring gene NANOG hESC enhancer GRCh37_chr9:74368830-74369517 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:74371765-74372408 Neighboring gene HNF1 motif-containing MPRA enhancer 224 Neighboring gene hESC enhancers GRCh37_chr9:74383087-74383768 and GRCh37_chr9:74383769-74384450 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

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium channel activity TAS
    Traceable Author Statement
    more info
     
    enables monoatomic cation channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables monoatomic cation channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in calcium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in calcium ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    involved_in metal ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in monoatomic cation transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within monoatomic cation transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein tetramerization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in 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)

    NEW Try the new Transcript table

    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_001007470.3NP_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
      A0A994J4R7
      Related
      ENSP00000515951.1, ENST00000704575.1
      Conserved Domains (1) summary
      pfam18139
      Location:1255
      LSDAT_euk; SLOG in TRPM
    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
      A2A3F6, A9Z1Y7, Q5VW02, Q5VW03, Q5VW04, Q5W5T7, Q86SH0, Q86SH6, Q86UL0, Q86WK1, Q86WK2, Q86WK3, Q86WK4, Q86YZ9, Q86Z00, Q86Z01, Q9H0X2, Q9HCF6
      Related
      ENSP00000366314.4, ENST00000377110.9
      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
      UniProtKB/TrEMBL
      A2A3F7
      Related
      ENSP00000350140.2, ENST00000357533.7
      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
      UniProtKB/TrEMBL
      A0A994J557
      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
      UniProtKB/TrEMBL
      A0A994J557
      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_001366144.2NP_001353073.1  transient receptor potential cation channel subfamily M member 3 isoform l

      Status: REVIEWED

      Source sequence(s)
      AL159990, AL356318, AL391819
      UniProtKB/TrEMBL
      Q9H200
    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
      Consensus CDS
      CCDS94420.1
      UniProtKB/TrEMBL
      A0A7I2V4E8
      Related
      ENSP00000503830.2, ENST00000677713.2
      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
      UniProtKB/TrEMBL
      A0A994J557
      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
      UniProtKB/Swiss-Prot
      A2A3F6, A9Z1Y7, Q5VW02, Q5VW03, Q5VW04, Q5W5T7, Q86SH0, Q86SH6, Q86UL0, Q86WK1, Q86WK2, Q86WK3, Q86WK4, Q86YZ9, Q86Z00, Q86Z01, Q9H0X2, Q9HCF6
      Related
      ENSP00000516762.1, ENST00000707140.1
      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
      UniProtKB/TrEMBL
      A0A994J557
      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
      UniProtKB/TrEMBL
      A0A7I2V4E8
      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
      UniProtKB/TrEMBL
      A0A994J557
      Conserved Domains (1) summary
      TIGR00870
      Location:8591177
      trp; transient-receptor-potential calcium channel protein
    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
      Consensus CDS
      CCDS94419.1
      UniProtKB/TrEMBL
      A0A994J557
      Related
      ENSP00000366315.4, ENST00000377111.8
      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
      UniProtKB/TrEMBL
      A0A994J557
      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_001366153.2NP_001353082.1  transient receptor potential cation channel subfamily M member 3 isoform u

      Status: REVIEWED

      Source sequence(s)
      AL159990, AL161913, AL356318
      UniProtKB/TrEMBL
      Q9H200
      Conserved Domains (1) summary
      pfam18139
      Location:153383
      LSDAT_euk; SLOG in TRPM
    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
      Consensus CDS
      CCDS94418.1
      UniProtKB/TrEMBL
      A0A7I2V4C9, A0A994J743
      Related
      ENSP00000504011.1, ENST00000677594.1
      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
      UniProtKB/TrEMBL
      A2A3F3
      Related
      ENSP00000379581.1, ENST00000396285.5
      Conserved Domains (1) summary
      pfam16519
      Location:10661117
      TRPM_tetra; Tetramerization domain of TRPM
    18. NM_024971.7NP_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
      A2A3F3, 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
      UniProtKB/TrEMBL
      A2A3F3
      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
      A2A3F3, 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
      A2A3F3, E9PBI7
      Related
      ENSP00000379587.4, ENST00000396292.8
      Conserved Domains (1) summary
      pfam16519
      Location:10911142
      TRPM_tetra; Tetramerization domain of TRPM
    22. NM_206947.5NP_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
      A2A3F3, A2A3F4
      Related
      ENSP00000354066.2, ENST00000360823.6
      Conserved Domains (1) summary
      pfam16519
      Location:10811132
      TRPM_tetra; Tetramerization domain of TRPM
    23. NM_206948.4NP_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/TrEMBL
      Q4VXD4
      Related
      ENSP00000355395.4, ENST00000361823.9
      Conserved Domains (1) summary
      pfam18139
      Location:1230
      LSDAT_euk; SLOG in TRPM

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      82695847..83597417 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)