• Gene id: 140803

Gene Summary

• Gene Symbol: TRPM6   Gene   UCSC   Ensembl
• Aliases: CHAK2, HMGX, HOMG, HOMG1, HSH
• Gene name: transient receptor potential cation channel subfamily M member 6
• Alternate names: transient receptor potential cation channel subfamily M member 6, channel kinase 2, melastatin-related TRP cation channel 6,
• Gene location: 9q21.13 (74887920: 74722494)     Exons: 41     NC_000009.12
• Gene summary(Entrez): 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
• OMIM: 615793

Protein Summary

• Protein general information: Q9BX84  
  • Name: Transient receptor potential cation channel subfamily M member 6 (EC 2.7.11.1) (Channel kinase 2) (Melastatin related TRP cation channel 6)
  • Length: 2022  
  • Mass: 231708
  • Tissue specificity: Highly expressed in kidney and colon. Isoform TRPM6a and isoform TRPM6b, are coexpressed with TRPM7 in kidney, and testis, and are also found in several cell lines of lung origin. Isoform TRPM6c is detected only in testis and in NCI-H5
• Sequence:

  MKEQPVLERLQSQKSWIKGVFDKRECSTIIPSSKNPHRCTPVCQVCQNLIRCYCGRLIGDHAGIDYSWTISAAKG
  KESEQWSVEKHTTKSPTDTFGTINFQDGEHTHHAKYIRTSYDTKLDHLLHLMLKEWKMELPKLVISVHGGIQNFT
  MPSKFKEIFSQGLVKAAETTGAWIITEGINTGVSKHVGDALKSHSSHSLRKIWTVGIPPWGVIENQRDLIGKDVV
  CLYQTLDNPLSKLTTLNSMHSHFILSDDGTVGKYGNEMKLRRNLEKYLSLQKIHCRSRQGVPVVGLVVEGGPNVI
  LSVWETVKDKDPVVVCEGTGRAADLLAFTHKHLADEGMLRPQVKEEIICMIQNTFNFSLKQSKHLFQILMECMVH
  RDCITIFDADSEEQQDLDLAILTALLKGTNLSASEQLNLAMAWDRVDIAKKHILIYEQHWKPDALEQAMSDALVM
  DRVDFVKLLIEYGVNLHRFLTIPRLEELYNTKQGPTNTLLHHLVQDVKQHTLLSGYRITLIDIGLVVEYLIGRAY
  RSNYTRKHFRALYNNLYRKYKHQRHSSGNRNESAESTLHSQFIRTAQPYKFKEKSIVLHKSRKKSKEQNVSDDPE
  STGFLYPYNDLLVWAVLMKRQKMAMFFWQHGEEATVKAVIACILYRAMAHEAKESHMVDDASEELKNYSKQFGQL
  ALDLLEKAFKQNERMAMTLLTYELRNWSNSTCLKLAVSGGLRPFVSHTCTQMLLTDMWMGRLKMRKNSWLKIIIS
  IILPPTILTLEFKSKAEMSHVPQSQDFQFMWYYSDQNASSSKESASVKEYDLERGHDEKLDENQHFGLESGHQHL
  PWTRKVYEFYSAPIVKFWFYTMAYLAFLMLFTYTVLVEMQPQPSVQEWLVSIYIFTNAIEVVREICISEPGKFTQ
  KVKVWISEYWNLTETVAIGLFSAGFVLRWGDPPFHTAGRLIYCIDIIFWFSRLLDFFAVNQHAGPYVTMIAKMTA
  NMFYIVIIMAIVLLSFGVARKAILSPKEPPSWSLARDIVFEPYWMIYGEVYAGEIDVCSSQPSCPPGSFLTPFLQ
  AVYLFVQYIIMVNLLIAFFNNVYLDMESISNNLWKYNRYRYIMTYHEKPWLPPPLILLSHVGLLLRRLCCHRAPH
  DQEEGDVGLKLYLSKEDLKKLHDFEEQCVEKYFHEKMEDVNCSCEERIRVTSERVTEMYFQLKEMNEKVSFIKDS
  LLSLDSQVGHLQDLSALTVDTLKVLSAVDTLQEDEALLAKRKHSTCKKLPHSWSNVICAEVLGSMEIAGEKKYQY
  YSMPSSLLRSLAGGRHPPRVQRGALLEITNSKREATNVRNDQERQETQSSIVVSGVSPNRQAHSKYGQFLLVPSN
  LKRVPFSAETVLPLSRPSVPDVLATEQDIQTEVLVHLTGQTPVVSDWASVDEPKEKHEPIAHLLDGQDKAEQVLP
  TLSCTPEPMTMSSPLSQAKIMQTGGGYVNWAFSEGDETGVFSIKKKWQTCLPSTCDSDSSRSEQHQKQAQDSSLS
  DNSTRSAQSSECSEVGPWLQPNTSFWINPLRRYRPFARSHSFRFHKEEKLMKICKIKNLSGSSEIGQGAWVKAKM
  LTKDRRLSKKKKNTQGLQVPIITVNACSQSDQLNPEPGENSISEEEYSKNWFTVSKFSHTGVEPYIHQKMKTKEI
  GQCAIQISDYLKQSQEDLSKNSLWNSRSTNLNRNSLLKSSIGVDKISASLKSPQEPHHHYSAIERNNLMRLSQTI
  PFTPVQLFAGEEITVYRLEESSPLNLDKSMSSWSQRGRAAMIQVLSREEMDGGLRKAMRVVSTWSEDDILKPGQV
  FIVKSFLPEVVRTWHKIFQESTVLHLCLREIQQQRAAQKLIYTFNQVKPQTIPYTPRFLEVFLIYCHSANQWLTI
  EKYMTGEFRKYNNNNGDEITPTNTLEELMLAFSHWTYEYTRGELLVLDLQGVGENLTDPSVIKPEVKQSRGMVFG
  PANLGEDAIRNFIAKHHCNSCCRKLKLPDLKRNDYSPERINSTFGLEIKIESAEEPPARETGRNSPEDDMQL

• Structural information:
  • Protein Domains: (1750..198-)
    kinase (/note="Alpha-type-protein)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00501"-)
  • Interpro: IPR005821  IPR011009  IPR004166  IPR029597  IPR041491   IPR032415  IPR037162  
  • Prosite: PS51158
  • STRING: ENSP00000354006
• Other Databases: GeneCards:  TRPM6  Malacards:  TRPM6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005261	cation channel activity	IEA	molecular function
GO:0006812	cation transport	IEA	biological process
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0051262	protein tetramerization	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005262	calcium channel activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0070588	calcium ion transmembrane transport	TAS	biological process
GO:0030001	metal ion transport	IEA	biological process
GO:0005261	cation channel activity	IEA	molecular function
GO:0031526	brush border membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0009636	response to toxic substance	IDA	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04978	Mineral absorption

Diseases

Associated diseases	References
Hypomagnesemia	KEGG:H01210
Hypomagnesemia	KEGG:H01210
metal metabolism disorder	PMID:12032568
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq