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

Gene ID: 80036, updated on 27-Nov-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

Expression

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  • 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

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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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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

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