• Gene id: 54795

Gene Summary

• Gene Symbol: TRPM4   Gene   UCSC   Ensembl
• Aliases: EKVP6, LTrpC4, PFHB1B, TRPM4B, hTRPM4
• Gene name: transient receptor potential cation channel subfamily M member 4
• Alternate names: transient receptor potential cation channel subfamily M member 4, calcium-activated non-selective cation channel 1, long transient receptor potential channel 4, melastatin-4,
• Gene location: 19q13.33 (49157791: 49211840)     Exons: 25     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene is a calcium-activated nonselective ion channel that mediates transport of monovalent cations across membranes, thereby depolarizing the membrane. The activity of the encoded protein increases with increasing intracellular
• OMIM: 615693

Protein Summary

• Protein general information: Q8TD43  
  • Name: Transient receptor potential cation channel subfamily M member 4 (hTRPM4) (Calcium activated non selective cation channel 1) (Long transient receptor potential channel 4) (LTrpC 4) (LTrpC4) (Melastatin 4)
  • Length: 1214  
  • Mass: 134301
  • Tissue specificity: Widely expressed with a high expression in intestine and prostate. In brain, it is both expressed in whole cerebral arteries and isolated vascular smooth muscle cells. Prominently expressed in Purkinje fibers. Expressed at higher level
• Sequence:

  MVVPEKEQSWIPKIFKKKTCTTFIVDSTDPGGTLCQCGRPRTAHPAVAMEDAFGAAVVTVWDSDAHTTEKPTDAY
  GELDFTGAGRKHSNFLRLSDRTDPAAVYSLVTRTWGFRAPNLVVSVLGGSGGPVLQTWLQDLLRRGLVRAAQSTG
  AWIVTGGLHTGIGRHVGVAVRDHQMASTGGTKVVAMGVAPWGVVRNRDTLINPKGSFPARYRWRGDPEDGVQFPL
  DYNYSAFFLVDDGTHGCLGGENRFRLRLESYISQQKTGVGGTGIDIPVLLLLIDGDEKMLTRIENATQAQLPCLL
  VAGSGGAADCLAETLEDTLAPGSGGARQGEARDRIRRFFPKGDLEVLQAQVERIMTRKELLTVYSSEDGSEEFET
  IVLKALVKACGSSEASAYLDELRLAVAWNRVDIAQSELFRGDIQWRSFHLEASLMDALLNDRPEFVRLLISHGLS
  LGHFLTPMRLAQLYSAAPSNSLIRNLLDQASHSAGTKAPALKGGAAELRPPDVGHVLRMLLGKMCAPRYPSGGAW
  DPHPGQGFGESMYLLSDKATSPLSLDAGLGQAPWSDLLLWALLLNRAQMAMYFWEMGSNAVSSALGACLLLRVMA
  RLEPDAEEAARRKDLAFKFEGMGVDLFGECYRSSEVRAARLLLRRCPLWGDATCLQLAMQADARAFFAQDGVQSL
  LTQKWWGDMASTTPIWALVLAFFCPPLIYTRLITFRKSEEEPTREELEFDMDSVINGEGPVGTADPAEKTPLGVP
  RQSGRPGCCGGRCGGRRCLRRWFHFWGAPVTIFMGNVVSYLLFLLLFSRVLLVDFQPAPPGSLELLLYFWAFTLL
  CEELRQGLSGGGGSLASGGPGPGHASLSQRLRLYLADSWNQCDLVALTCFLLGVGCRLTPGLYHLGRTVLCIDFM
  VFTVRLLHIFTVNKQLGPKIVIVSKMMKDVFFFLFFLGVWLVAYGVATEGLLRPRDSDFPSILRRVFYRPYLQIF
  GQIPQEDMDVALMEHSNCSSEPGFWAHPPGAQAGTCVSQYANWLVVLLLVIFLLVANILLVNLLIAMFSYTFGKV
  QGNSDLYWKAQRYRLIREFHSRPALAPPFIVISHLRLLLRQLCRRPRSPQPSSPALEHFRVYLSKEAERKLLTWE
  SVHKENFLLARARDKRESDSERLKRTSQKVDLALKQLGHIREYEQRLKVLEREVQQCSRVLGWVAEALSRSALLP
  PGGPPPPDLPGSKD

• Structural information:
  • Interpro: IPR005821  IPR029581  IPR041491  
  • PDB: 5WP6 6BQR 6BQV 6BWI
  • PDBsum: 5WP6 6BQR 6BQV 6BWI
  • STRING: ENSP00000252826
• Other Databases: GeneCards:  TRPM4  Malacards:  TRPM4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0051289	protein homotetramerization	IDA	biological process
GO:0005509	calcium ion binding	IDA	molecular function
GO:0044214	spanning component of plasma membrane	IDA	cellular component
GO:0051289	protein homotetramerization	IDA	biological process
GO:0005227	calcium activated cation channel activity	IDA	molecular function
GO:0090263	positive regulation of canonical Wnt signaling pathway	IDA	biological process
GO:0016925	protein sumoylation	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0002724	regulation of T cell cytokine production	IDA	biological process
GO:0098662	inorganic cation transmembrane transport	IDA	biological process
GO:0089717	spanning component of membrane	IDA	cellular component
GO:0005227	calcium activated cation channel activity	ISS	molecular function
GO:0002407	dendritic cell chemotaxis	ISS	biological process
GO:0005227	calcium activated cation channel activity	IEA	molecular function
GO:0006812	cation transport	IEA	biological process
GO:0061337	cardiac conduction	IEA	biological process
GO:0002724	regulation of T cell cytokine production	IEA	biological process
GO:0005216	ion channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0042310	vasoconstriction	IEA	biological process
GO:0042391	regulation of membrane potential	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0005516	calmodulin binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0070588	calcium ion transmembrane transport	TAS	biological process
GO:0071318	cellular response to ATP	IEA	biological process
GO:0051289	protein homotetramerization	IEA	biological process
GO:0044214	spanning component of plasma membrane	IEA	cellular component
GO:0006816	calcium ion transport	IEA	biological process
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005227	calcium activated cation channel activity	IEA	molecular function
GO:0098662	inorganic cation transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0002407	dendritic cell chemotaxis	IEA	biological process
GO:0010460	positive regulation of heart rate	ISS	biological process
GO:0030502	negative regulation of bone mineralization	ISS	biological process
GO:0035774	positive regulation of insulin secretion involved in cellular response to glucose stimulus	ISS	biological process
GO:0045600	positive regulation of fat cell differentiation	ISS	biological process
GO:1903949	positive regulation of atrial cardiac muscle cell action potential	ISS	biological process
GO:1904199	positive regulation of regulation of vascular smooth muscle cell membrane depolarization	ISS	biological process
GO:0005829	cytosol	ISS	cellular component
GO:0007204	positive regulation of cytosolic calcium ion concentration	ISS	biological process
GO:0045668	negative regulation of osteoblast differentiation	ISS	biological process
GO:0045907	positive regulation of vasoconstriction	ISS	biological process
GO:1904179	positive regulation of adipose tissue development	ISS	biological process
GO:0043025	neuronal cell body	ISS	cellular component
GO:0005227	calcium activated cation channel activity	IDA	molecular function
GO:0098719	sodium ion import across plasma membrane	IDA	biological process
GO:0098911	regulation of ventricular cardiac muscle cell action potential	IMP	biological process
GO:0086047	membrane depolarization during Purkinje myocyte cell action potential	IMP	biological process
GO:0034706	sodium channel complex	IDA	cellular component
GO:0019722	calcium-mediated signaling	IDA	biological process
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0086045	membrane depolarization during AV node cell action potential	IMP	biological process
GO:0086048	membrane depolarization during bundle of His cell action potential	IMP	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04911	Insulin secretion

Diseases

Associated diseases	References
Erythrokeratodermia variabilis	KEGG:H00710
Progressive cardiac conduction defect	KEGG:H01263
Erythrokeratodermia variabilis	KEGG:H00710
Progressive cardiac conduction defect	KEGG:H01263
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray