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

Gene ID: 140803, updated on 13-Jan-2015
Official Symbol
TRPM6provided by HGNC
Official Full Name
transient receptor potential cation channel, subfamily M, member 6provided by HGNC
Primary source
HGNC:HGNC:17995
Locus tag
RP11-174B4.1
See related
Ensembl:ENSG00000119121; HPRD:06112; 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
See TRPM6 in MapViewer
Location:
9q21.13
Exon count:
43
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 uncharacterized LOC101927358 Neighboring gene RAR-related orphan receptor B 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

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 IEA
Inferred from Electronic Annotation
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
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
response to toxic substance IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane transport TAS
Traceable Author Statement
more info
 
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
transient receptor potential cation channel subfamily M member 6
channel kinase 2
melastatin-related TRP cation channel 6
NP_001170781.1
NP_001170782.1
NP_060132.3

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 

    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 proteins identical to 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, ENST00000449912
    Conserved Domains (2) summary
    smart00811
    Location:17491967
    Alpha_kinase; Alpha-kinase family
    pfam00520
    Location:8681063
    Ion_trans; Ion transport protein
  2. NM_001177311.1NP_001170782.1  transient receptor potential cation channel subfamily M member 6 isoform c

    See proteins identical to 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, ENST00000361255
    Conserved Domains (2) summary
    smart00811
    Location:17491967
    Alpha_kinase; Alpha-kinase family
    pfam00520
    Location:8681063
    Ion_trans; Ion transport protein
  3. NM_017662.4NP_060132.3  transient receptor potential cation channel subfamily M member 6 isoform a

    See proteins identical to 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, OTTHUMP00000021487, ENST00000360774, OTTHUMT00000052693
    Conserved Domains (2) summary
    smart00811
    Location:17541972
    Alpha_kinase; Alpha-kinase family
    pfam00520
    Location:8731068
    Ion_trans; Ion transport protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000009.12 

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

mRNA and Protein(s)

  1. XM_006716959.1XP_006717022.1  

    Conserved Domains (1) summary
    smart00811
    Location:7861004
    Alpha_kinase; Alpha-kinase family

RNA

  1. XR_242568.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 

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

Alternate HuRef

Genomic

  1. AC_000141.1 

    Range
    47159778..47325152
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)