Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    TRPM6 transient receptor potential cation channel subfamily M member 6 [ Homo sapiens (human) ]

    Gene ID: 140803, updated on 15-Oct-2017
    Official Symbol
    TRPM6provided by HGNC
    Official Full Name
    transient receptor potential cation channel subfamily M member 6provided by HGNC
    Primary source
    HGNC:HGNC:17995
    See related
    Ensembl:ENSG00000119121 MIM:607009; Vega:OTTHUMG00000020027
    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
    HSH; HMGX; HOMG; CHAK2; HOMG1
    Summary
    This gene is predominantly expressed in the kidney and colon, and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis, and plays an essential role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Mutations in this gene are associated with hypomagnesemia with secondary hypocalcemia. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Apr 2010]
    Orthologs
    Location:
    9q21.13
    Exon count:
    46
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (74722495..74888094, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (77337411..77503010, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene RORB antisense RNA 1 Neighboring gene RAR related orphan receptor B Neighboring gene uncharacterized LOC105376088 Neighboring gene RNA, 7SK small nuclear pseudogene 47 Neighboring gene ribosomal protein SA pseudogene 75 Neighboring gene RNA, U6 small nuclear 445, pseudogene Neighboring gene RNA, Ro-associated Y4 pseudogene 1 Neighboring gene required for meiotic nuclear division 1 homolog (S. cerevisiae) pseudogene Neighboring gene chromosome 9 open reading frame 40

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Hypomagnesemia 1, intestinal
    MedGen: C1865974 OMIM: 602014 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.
    NHGRI GWA Catalog
    • Ion channel transport, organism-specific biosystem (from REACTOME)
      Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
    • Mineral absorption, organism-specific biosystem (from KEGG)
      Mineral absorption, organism-specific biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
    • Mineral absorption, conserved biosystem (from KEGG)
      Mineral absorption, conserved biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
    • Stimuli-sensing channels, organism-specific biosystem (from REACTOME)
      Stimuli-sensing channels, organism-specific biosystemIon channels that mediate sensations such as pain, warmth, cold, taste pressure and vision. Channels that mediate these sensations include acid-sensing ion channels (ASICs) (Wang & Xu 2011, Qadri et ...
    • TRP channels, organism-specific biosystem (from REACTOME)
      TRP channels, organism-specific biosystemTransient receptor potential (TRP) channel proteins were first discovered in Drosophila melanogaster and have many homologues in other species including humans. TRPs form cationic channels that can ...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    calcium channel activity TAS
    Traceable Author Statement
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    calcium ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    protein tetramerization IEA
    Inferred from Electronic Annotation
    more info
     
    response to toxic substance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    brush border membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    transient receptor potential cation channel subfamily M member 6
    Names
    channel kinase 2
    melastatin-related TRP cation channel 6
    NP_001170781.1
    NP_001170782.1
    NP_060132.3
    XP_011516546.1
    XP_011516547.1
    XP_011516548.1
    XP_011516549.1
    XP_011516550.1
    XP_011516551.1
    XP_011516552.1
    XP_011516553.1
    XP_011516554.1
    XP_011516557.1
    XP_016869776.1
    XP_016869777.1
    XP_016869778.1

    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_017036.1 RefSeqGene

      Range
      5001..170600
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001177310.1NP_001170781.1  transient receptor potential cation channel subfamily M member 6 isoform b

      See identical proteins and their annotated locations for NP_001170781.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b) contains an alternate 5' terminal exon compared to variant a. This results in a shorter isoform (b) with a distinct N-terminus compared to isoform a.
      Source sequence(s)
      AF350881, AL354795, AY333283
      Consensus CDS
      CCDS55319.1
      UniProtKB/Swiss-Prot
      Q9BX84
      Related
      ENSP00000396672.2, ENST00000449912.6
      Conserved Domains (3) summary
      smart00811
      Location:17491967
      Alpha_kinase; Alpha-kinase family
      pfam00520
      Location:8481068
      Ion_trans; Ion transport protein
      pfam16519
      Location:11691220
      TRPM_tetra; Tetramerization domain of TRPM
    2. NM_001177311.1NP_001170782.1  transient receptor potential cation channel subfamily M member 6 isoform c

      See identical proteins and their annotated locations for NP_001170782.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (c) contains an alternate 5' terminal exon compared to variant a. This results in a shorter isoform (c) with a distinct N-terminus compared to isoform a.
      Source sequence(s)
      AF350881, AL354795, AY333284
      Consensus CDS
      CCDS55318.1
      UniProtKB/Swiss-Prot
      Q9BX84
      Related
      ENSP00000354962.3, ENST00000361255.7
      Conserved Domains (3) summary
      smart00811
      Location:17491967
      Alpha_kinase; Alpha-kinase family
      pfam00520
      Location:8481068
      Ion_trans; Ion transport protein
      pfam16519
      Location:11691220
      TRPM_tetra; Tetramerization domain of TRPM
    3. NM_017662.4NP_060132.3  transient receptor potential cation channel subfamily M member 6 isoform a

      See identical proteins and their annotated locations for NP_060132.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a) encodes the longest isoform (a).
      Source sequence(s)
      AF350881, AL354795
      Consensus CDS
      CCDS6647.1
      UniProtKB/Swiss-Prot
      Q9BX84
      Related
      ENSP00000354006.1, OTTHUMP00000021487, ENST00000360774.5, OTTHUMT00000052693
      Conserved Domains (3) summary
      smart00811
      Location:17541972
      Alpha_kinase; Alpha-kinase family
      pfam00520
      Location:8531073
      Ion_trans; Ion transport protein
      pfam16519
      Location:11741225
      TRPM_tetra; Tetramerization domain of TRPM

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      74722495..74888094 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017014288.1XP_016869777.1  transient receptor potential cation channel subfamily M member 6 isoform X9

    2. XM_017014287.1XP_016869776.1  transient receptor potential cation channel subfamily M member 6 isoform X8

    3. XM_011518249.1XP_011516551.1  transient receptor potential cation channel subfamily M member 6 isoform X6

      Conserved Domains (3) summary
      smart00811
      Location:16761894
      Alpha_kinase; Alpha-kinase family
      pfam00520
      Location:775995
      Ion_trans; Ion transport protein
      pfam16519
      Location:10961147
      TRPM_tetra; Tetramerization domain of TRPM
    4. XM_011518248.1XP_011516550.1  transient receptor potential cation channel subfamily M member 6 isoform X5

      Conserved Domains (3) summary
      smart00811
      Location:17071925
      Alpha_kinase; Alpha-kinase family
      pfam00520
      Location:8061026
      Ion_trans; Ion transport protein
      pfam16519
      Location:11271178
      TRPM_tetra; Tetramerization domain of TRPM
    5. XM_011518245.1XP_011516547.1  transient receptor potential cation channel subfamily M member 6 isoform X2

      Conserved Domains (3) summary
      smart00811
      Location:17231941
      Alpha_kinase; Alpha-kinase family
      pfam00520
      Location:8221042
      Ion_trans; Ion transport protein
      pfam16519
      Location:11431194
      TRPM_tetra; Tetramerization domain of TRPM
    6. XM_011518250.1XP_011516552.1  transient receptor potential cation channel subfamily M member 6 isoform X7

      Conserved Domains (3) summary
      smart00811
      Location:16621880
      Alpha_kinase; Alpha-kinase family
      TIGR00870
      Location:6571006
      trp; transient-receptor-potential calcium channel protein
      pfam16519
      Location:10821133
      TRPM_tetra; Tetramerization domain of TRPM
    7. XM_011518247.1XP_011516549.1  transient receptor potential cation channel subfamily M member 6 isoform X4

      Conserved Domains (3) summary
      smart00811
      Location:17111929
      Alpha_kinase; Alpha-kinase family
      TIGR00870
      Location:6571055
      trp; transient-receptor-potential calcium channel protein
      pfam16519
      Location:11311182
      TRPM_tetra; Tetramerization domain of TRPM
    8. XM_011518244.1XP_011516546.1  transient receptor potential cation channel subfamily M member 6 isoform X1

      Conserved Domains (3) summary
      smart00811
      Location:17531971
      Alpha_kinase; Alpha-kinase family
      pfam00520
      Location:8531073
      Ion_trans; Ion transport protein
      pfam16519
      Location:11741225
      TRPM_tetra; Tetramerization domain of TRPM
    9. XM_011518246.1XP_011516548.1  transient receptor potential cation channel subfamily M member 6 isoform X3

      Conserved Domains (3) summary
      smart00811
      Location:17811931
      Alpha_kinase; Alpha-kinase family
      pfam00520
      Location:8531073
      Ion_trans; Ion transport protein
      pfam16519
      Location:11741225
      TRPM_tetra; Tetramerization domain of TRPM
    10. XM_011518251.2XP_011516553.1  transient receptor potential cation channel subfamily M member 6 isoform X10

      Conserved Domains (3) summary
      smart00811
      Location:15111729
      Alpha_kinase; Alpha-kinase family
      pfam00520
      Location:610830
      Ion_trans; Ion transport protein
      pfam16519
      Location:931982
      TRPM_tetra; Tetramerization domain of TRPM
    11. XM_011518252.2XP_011516554.1  transient receptor potential cation channel subfamily M member 6 isoform X11

      Conserved Domains (2) summary
      pfam00520
      Location:8531073
      Ion_trans; Ion transport protein
      pfam16519
      Location:11741225
      TRPM_tetra; Tetramerization domain of TRPM
    12. XM_017014289.1XP_016869778.1  transient receptor potential cation channel subfamily M member 6 isoform X12

    13. XM_011518255.2XP_011516557.1  transient receptor potential cation channel subfamily M member 6 isoform X13

      Conserved Domains (1) summary
      TIGR00870
      Location:6571098
      trp; transient-receptor-potential calcium channel protein

    RNA

    1. XR_001746185.1 RNA Sequence

    2. XR_929717.2 RNA Sequence

    3. XR_929718.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      77483852..77649496 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center