Seroatlas · Human Serome Atlas

TRPM6

Transient receptor potential cation channel subfamily M member 6

Also known as: CHAK2, FLJ22628, HOMG, HSH, TRPM6_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9BX84
Gene: TRPM6
Ensembl: ENSG00000119121
Chromosome: 9
Canonical length: 2022 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters, Voltage-gated ion channels

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

2022 residues, UniProt reviewed canonical sequence.

>Q9BX84|TRPM6
     1  MKEQPVLERL QSQKSWIKGV FDKRECSTII PSSKNPHRCT PVCQVCQNLI RCYCGRLIGD
    61  HAGIDYSWTI SAAKGKESEQ WSVEKHTTKS PTDTFGTINF QDGEHTHHAK YIRTSYDTKL
   121  DHLLHLMLKE WKMELPKLVI SVHGGIQNFT MPSKFKEIFS QGLVKAAETT GAWIITEGIN
   181  TGVSKHVGDA LKSHSSHSLR KIWTVGIPPW GVIENQRDLI GKDVVCLYQT LDNPLSKLTT
   241  LNSMHSHFIL SDDGTVGKYG NEMKLRRNLE KYLSLQKIHC RSRQGVPVVG LVVEGGPNVI
   301  LSVWETVKDK DPVVVCEGTG RAADLLAFTH KHLADEGMLR PQVKEEIICM IQNTFNFSLK
   361  QSKHLFQILM ECMVHRDCIT IFDADSEEQQ DLDLAILTAL LKGTNLSASE QLNLAMAWDR
   421  VDIAKKHILI YEQHWKPDAL EQAMSDALVM DRVDFVKLLI EYGVNLHRFL TIPRLEELYN
   481  TKQGPTNTLL HHLVQDVKQH TLLSGYRITL IDIGLVVEYL IGRAYRSNYT RKHFRALYNN
   541  LYRKYKHQRH SSGNRNESAE STLHSQFIRT AQPYKFKEKS IVLHKSRKKS KEQNVSDDPE
   601  STGFLYPYND LLVWAVLMKR QKMAMFFWQH GEEATVKAVI ACILYRAMAH EAKESHMVDD
   661  ASEELKNYSK QFGQLALDLL EKAFKQNERM AMTLLTYELR NWSNSTCLKL AVSGGLRPFV
   721  SHTCTQMLLT DMWMGRLKMR KNSWLKIIIS IILPPTILTL EFKSKAEMSH VPQSQDFQFM
   781  WYYSDQNASS SKESASVKEY DLERGHDEKL DENQHFGLES GHQHLPWTRK VYEFYSAPIV
   841  KFWFYTMAYL AFLMLFTYTV LVEMQPQPSV QEWLVSIYIF TNAIEVVREI CISEPGKFTQ
   901  KVKVWISEYW NLTETVAIGL FSAGFVLRWG DPPFHTAGRL IYCIDIIFWF SRLLDFFAVN
   961  QHAGPYVTMI AKMTANMFYI VIIMAIVLLS FGVARKAILS PKEPPSWSLA RDIVFEPYWM
  1021  IYGEVYAGEI DVCSSQPSCP PGSFLTPFLQ AVYLFVQYII MVNLLIAFFN NVYLDMESIS
  1081  NNLWKYNRYR YIMTYHEKPW LPPPLILLSH VGLLLRRLCC HRAPHDQEEG DVGLKLYLSK
  1141  EDLKKLHDFE EQCVEKYFHE KMEDVNCSCE ERIRVTSERV TEMYFQLKEM NEKVSFIKDS
  1201  LLSLDSQVGH LQDLSALTVD TLKVLSAVDT LQEDEALLAK RKHSTCKKLP HSWSNVICAE
  1261  VLGSMEIAGE KKYQYYSMPS SLLRSLAGGR HPPRVQRGAL LEITNSKREA TNVRNDQERQ
  1321  ETQSSIVVSG VSPNRQAHSK YGQFLLVPSN LKRVPFSAET VLPLSRPSVP DVLATEQDIQ
  1381  TEVLVHLTGQ TPVVSDWASV DEPKEKHEPI AHLLDGQDKA EQVLPTLSCT PEPMTMSSPL
  1441  SQAKIMQTGG GYVNWAFSEG DETGVFSIKK KWQTCLPSTC DSDSSRSEQH QKQAQDSSLS
  1501  DNSTRSAQSS ECSEVGPWLQ PNTSFWINPL RRYRPFARSH SFRFHKEEKL MKICKIKNLS
  1561  GSSEIGQGAW VKAKMLTKDR RLSKKKKNTQ GLQVPIITVN ACSQSDQLNP EPGENSISEE
  1621  EYSKNWFTVS KFSHTGVEPY IHQKMKTKEI GQCAIQISDY LKQSQEDLSK NSLWNSRSTN
  1681  LNRNSLLKSS IGVDKISASL KSPQEPHHHY SAIERNNLMR LSQTIPFTPV QLFAGEEITV
  1741  YRLEESSPLN LDKSMSSWSQ RGRAAMIQVL SREEMDGGLR KAMRVVSTWS EDDILKPGQV
  1801  FIVKSFLPEV VRTWHKIFQE STVLHLCLRE IQQQRAAQKL IYTFNQVKPQ TIPYTPRFLE
  1861  VFLIYCHSAN QWLTIEKYMT GEFRKYNNNN GDEITPTNTL EELMLAFSHW TYEYTRGELL
  1921  VLDLQGVGEN LTDPSVIKPE VKQSRGMVFG PANLGEDAIR NFIAKHHCNS CCRKLKLPDL
  1981  KRNDYSPERI NSTFGLEIKI ESAEEPPARE TGRNSPEDDM QL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TRPM6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 6
Mean surface accessibility (rSASA): 0.4
Highest tissue expression: 16 nTPM

Expression across tissuesHPA

Tissue

rectum: 16 nTPM
colon: 12 nTPM
small intestine: 7.4 nTPM
duodenum: 6.6 nTPM
spinal cord: 3.3 nTPM
bone marrow: 2.4 nTPM

Single-cell type

distal convoluted tubule cells: 1,018 nCPM
renal connecting tubule cells: 276 nCPM
neutrophils: 238 nCPM
colonocytes: 220 nCPM
neutrophil progenitors: 138 nCPM
endometrial luminal cells: 132 nCPM

Immune cell

basophil: 23 nTPM
neutrophil: 7.5 nTPM
eosinophil: 2.4 nTPM
NK-cell: 0.5 nTPM
naive B-cell: 0.2 nTPM
plasmacytoid DC: 0.2 nTPM

Brain region

white matter: 15 nTPM
medulla oblongata: 11 nTPM
pons: 10 nTPM
basal ganglia: 9 nTPM
midbrain: 9 nTPM
thalamus: 8.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TRPM6.

Disease | AllUniProt

Conditions TRPM6 is implicated in, by any mechanism.

Hypomagnesemia 1 (HOMG1) MIM:602014

Disease | GeneticClinVar

67 pathogenic / likely-pathogenic of 973 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.45
gnomAD pLI: 0
gnomAD missense Z: 1.61
DepMap mean gene effect: -0.06
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Alpha-type protein kinase, alpha-kinase domain
Ion transport domain
Protein kinase-like domain superfamily
TRPM, tetramerisation domain
TRPM, tetramerisation domain superfamily
TRPM, SLOG domain
Transient receptor potential cation channel M
TRPM-like domain
Ion transport protein
Alpha-kinase family
Tetramerisation domain of TRPM
SLOG in TRPM
TRPM2-like domain
Transient receptor potential cation channel subfamily M member 6, alpha-kinase domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TRPM6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

RACK1

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TRPM6 as an antibody target. Whether an autoantibody or antibody against TRPM6 could matter depends on whether native TRPM6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TRPM6 is annotated at the cell surface, where native TRPM6 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label TRPM6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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