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

Gene ID: 140803, updated on 7-Dec-2018

Summary

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
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]
Expression
Biased expression in colon (RPKM 8.1), small intestine (RPKM 3.5) and 5 other tissues See more
Orthologs

Genomic context

See TRPM6 in Genome Data Viewer
Location:
9q21.13
Exon count:
46
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 RNY4 pseudogene 1 Neighboring gene required for meiotic nuclear division 1 homolog (S. cerevisiae) pseudogene Neighboring gene chromosome 9 open reading frame 40

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 

General protein information

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

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_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_017662.5NP_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, ENST00000360774.5
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 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

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