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

    Gene ID: 80036, updated on 10-Dec-2024

    Summary

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    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
    all
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    Genomic context

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    See TRPM3 in Genome Data Viewer
    Location:
    9q21.12-q21.13
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (70529060..71446971, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (82695847..83597417, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Activation and inhibition of transient receptor potential TRPM3-induced gene transcription. Lesch A, et al. Br J Pharmacol, 2014 May. PMID 24895737, Free PMC Article
    2. Gain of channel function and modified gating properties in TRPM3 mutants causing intellectual disability and epilepsy. Van Hoeymissen E, et al. Elife, 2020 May 19. PMID 32427099, Free PMC Article
    3. Functional expression and pharmacological modulation of TRPM3 in human sensory neurons. Vangeel L, et al. Br J Pharmacol, 2020 Jun. PMID 31985045, Free PMC Article
    4. Transient receptor potential melastatin 2 channels are overexpressed in myalgic encephalomyelitis/chronic fatigue syndrome patients. Balinas C, et al. J Transl Med, 2019 Dec 3. PMID 31796045, Free PMC Article
    5. Naltrexone Restores Impaired Transient Receptor Potential Melastatin 3 Ion Channel Function in Natural Killer Cells From Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients. Cabanas H, et al. Front Immunol, 2019. PMID 31736966, Free PMC Article

    See all (77) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Implications of TRPM3 and TRPM8 for sensory neuron sensitisation.
      Title: Implications of TRPM3 and TRPM8 for sensory neuron sensitisation.
    2. The newest TRP channelopathy: Gain of function TRPM3 mutations cause epilepsy and intellectual disability.
      Title: The newest TRP channelopathy: Gain of function TRPM3 mutations cause epilepsy and intellectual disability.
    3. Novel characterization of endogenous transient receptor potential melastatin 3 ion channels from Gulf War Illness participants.
      Title: Novel characterization of endogenous transient receptor potential melastatin 3 ion channels from Gulf War Illness participants.
    4. A Cataract-Causing Mutation in the TRPM3 Cation Channel Disrupts Calcium Dynamics in the Lens.
      Title: A Cataract-Causing Mutation in the TRPM3 Cation Channel Disrupts Calcium Dynamics in the Lens.
    5. Role of novel de novo gain-of-function TRPM3 mutations in a spectrum of neurodevelopmental disorders.
      Title: Role of novel de novo gain-of-function TRPM3 mutations in a spectrum of neurodevelopmental disorders.
    6. Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.
      Title: Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.
    7. Structural and functional analyses of a GPCR-inhibited ion channel TRPM3.
      Title: Structural and functional analyses of a GPCR-inhibited ion channel TRPM3.
    8. Computational and functional studies of the PI(4,5)P2 binding site of the TRPM3 ion channel reveal interactions with other regulators.
      Title: Computational and functional studies of the PI(4,5)P(2) binding site of the TRPM3 ion channel reveal interactions with other regulators.
    9. TRPM3 in the eye and in the nervous system - from new findings to novel mechanisms.
      Title: TRPM3 in the eye and in the nervous system - from new findings to novel mechanisms.
    10. Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.
      Title: Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.
    Submit: New GeneRIF Correction See all GeneRIFs (53)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G-protein beta/gamma-subunit complex binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables calcium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcium channel activity TAS
    Traceable Author Statement
    more info
    		  
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    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 
    enables phosphatidylinositol-4,5-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 homotetramerization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in zinc ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_001007470.3 → NP_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:1 → 255
      LSDAT_euk; SLOG in TRPM

    2. NM_001007471.4 → NP_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:1219 → 1270
      TRPM_tetra; Tetramerization domain of TRPM

    3. NM_001366141.2 → NP_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:1221 → 1272
      TRPM_tetra; Tetramerisation domain of TRPM
      cl26777
      Location:871 → 1189
      TRP_2; Transient receptor ion channel II

    4. NM_001366142.2 → NP_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:1233 → 1284
      TRPM_tetra; Tetramerisation domain of TRPM
      cl26777
      Location:883 → 1201
      TRP_2; Transient receptor ion channel II

    5. NM_001366143.2 → NP_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:1221 → 1272
      TRPM_tetra; Tetramerisation domain of TRPM
      cl26777
      Location:871 → 1189
      TRP_2; Transient receptor ion channel II

    6. NM_001366144.2 → NP_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_001366145.2 → NP_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:1231 → 1282
      TRPM_tetra; Tetramerisation domain of TRPM
      cl26777
      Location:881 → 1199
      TRP_2; Transient receptor ion channel II

    8. NM_001366146.2 → NP_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:1231 → 1282
      TRPM_tetra; Tetramerisation domain of TRPM
      cl26777
      Location:881 → 1199
      TRP_2; Transient receptor ion channel II

    9. NM_001366147.2 → NP_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:1256 → 1307
      TRPM_tetra; Tetramerisation domain of TRPM
      cl26777
      Location:906 → 1224
      TRP_2; Transient receptor ion channel II

    10. NM_001366148.2 → NP_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:1246 → 1297
      TRPM_tetra; Tetramerisation domain of TRPM
      cl25602
      Location:1216 → 1325
      DUF3552; Domain of unknown function (DUF3552)
      cl26777
      Location:896 → 1214
      TRP_2; Transient receptor ion channel II

    11. NM_001366149.2 → NP_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:1221 → 1272
      TRPM_tetra; Tetramerisation domain of TRPM
      cl26777
      Location:871 → 1189
      TRP_2; Transient receptor ion channel II

    12. NM_001366150.2 → NP_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:859 → 1177
      trp; transient-receptor-potential calcium channel protein

    13. NM_001366151.2 → NP_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:1219 → 1270
      TRPM_tetra; Tetramerisation domain of TRPM
      cl26777
      Location:869 → 1187
      TRP_2; Transient receptor ion channel II

    14. NM_001366152.2 → NP_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:1256 → 1307
      TRPM_tetra; Tetramerisation domain of TRPM
      cl25602
      Location:1226 → 1335
      DUF3552; Domain of unknown function (DUF3552)
      cl26777
      Location:906 → 1224
      TRP_2; Transient receptor ion channel II

    15. NM_001366153.2 → NP_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:153 → 383
      LSDAT_euk; SLOG in TRPM

    16. NM_001366154.2 → NP_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:1078 → 1129
      TRPM_tetra; Tetramerisation domain of TRPM
      cl26777
      Location:728 → 1046
      TRP_2; Transient receptor ion channel II

    17. NM_020952.6 → NP_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:1066 → 1117
      TRPM_tetra; Tetramerization domain of TRPM

    18. NM_024971.7 → NP_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:1078 → 1129
      TRPM_tetra; Tetramerization domain of TRPM

    19. NM_206944.5 → NP_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:1056 → 1107
      TRPM_tetra; Tetramerization domain of TRPM

    20. NM_206945.5 → NP_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:1068 → 1119
      TRPM_tetra; Tetramerization domain of TRPM

    21. NM_206946.5 → NP_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:1091 → 1142
      TRPM_tetra; Tetramerization domain of TRPM

    22. NM_206947.5 → NP_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:1081 → 1132
      TRPM_tetra; Tetramerization domain of TRPM

    23. NM_206948.4 → NP_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:1 → 230
      LSDAT_euk; SLOG in TRPM

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HCF6.4 GenPept UniProtKB/Swiss-Prot:Q9HCF6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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