TRPM7 transient receptor potential cation channel subfamily M member 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TRPM7provided by HGNC
Official Full Name: transient receptor potential cation channel subfamily M member 7provided by HGNC
Primary source: HGNC:HGNC:17994
See related: Ensembl:ENSG00000092439 MIM:605692; AllianceGenome:HGNC:17994
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: CHAK; CHAK1; ALSPDC; LTRPC7; LTrpC-7; TRP-PLIK
Summary: This gene belongs to the melastatin subfamily of transient receptor potential family of ion channels. The protein encoded by this gene is both an ion channel and a serine/threonine protein kinase. The kinase activity is essential for the ion channel function, which serves to increase intracellular calcium levels and to help regulate magnesium ion homeostasis. The encoded protein is involved in cytoskeletal organization, cell adhesion, cell migration and organogenesis. Defects in this gene are a cause of amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam. The gene may also be associated with defects of cardiac function. [provided by RefSeq, Aug 2017]
Expression: Ubiquitous expression in thyroid (RPKM 8.4), kidney (RPKM 8.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q21.2

Exon count:: 39

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (50557158..50686797, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (48365238..48493853, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (50849355..50978994, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Knockdown of circ-Gatad1 alleviates LPS induced HK2 cell injury via targeting miR-22-3p/TRPM7 axis in septic acute kidney.
Title: Knockdown of circ-Gatad1 alleviates LPS induced HK2 cell injury via targeting miR-22-3p/TRPM7 axis in septic acute kidney.
Novel biallelic frameshift in TRPM7 gene causes Hallermann-Streiff syndrome in a consanguineous family: a case report.
Title: Novel biallelic frameshift in TRPM7 gene causes Hallermann-Streiff syndrome in a consanguineous family: a case report.
The Role of TRPM7 in Oncogenesis.
Title: The Role of TRPM7 in Oncogenesis.
LncRNA SNHG8 regulates the migration and angiogenesis of pHUVECs induced by high glucose via the TRPM7/ERK1/2 signaling axis.
Title: LncRNA SNHG8 regulates the migration and angiogenesis of pHUVECs induced by high glucose via the TRPM7/ERK(1/2) signaling axis.
Roles of TRPM7 in ovarian cancer.
Title: Roles of TRPM7 in ovarian cancer.
Inactivation of TRPM7 Kinase Targets AKT Signaling and Cyclooxygenase-2 Expression in Human CML Cells.
Title: Inactivation of TRPM7 Kinase Targets AKT Signaling and Cyclooxygenase-2 Expression in Human CML Cells.
TRPM7 mediates endoplasmic reticulum stress and ferroptosis in sepsis-induced myocardial injury.
Title: TRPM7 mediates endoplasmic reticulum stress and ferroptosis in sepsis-induced myocardial injury.
Downregulation of TRPM7, TRPM8, and TRPV1 channels modulate apoptotic parameters and neurodegenerative markers: Focus on neuronal differentiation and Parkinson's disease model.
Title: Downregulation of TRPM7, TRPM8, and TRPV1 channels modulate apoptotic parameters and neurodegenerative markers: Focus on neuronal differentiation and Parkinson's disease model.
Altered TRPM7-Dependent Calcium Influx in Natural Killer Cells of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients.
Title: Altered TRPM7-Dependent Calcium Influx in Natural Killer Cells of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients.
TRPM7 is Involved in the Regulation of Proliferation, Migration and Osteogenic Differentiation of Human Dental Follicle Cells.
Title: TRPM7 is Involved in the Regulation of Proliferation, Migration and Osteogenic Differentiation of Human Dental Follicle Cells.

Submit: New GeneRIF Correction See all GeneRIFs (180)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Amyotrophic lateral sclerosis-parkinsonism-dementia complex MedGen: C0543859 OMIM: 105500 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. EBI GWAS Catalog EBI GWAS CatalogPubMed
Impact of ancestry and common genetic variants on QT interval in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of TRPM7	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-131171 (e-PCR)
- UniSTS:167694

D10S275 (e-PCR)
- UniSTS:147992

D8S2279 (e-PCR)
- UniSTS:473907

D10S16 (e-PCR)
- UniSTS:155756

D15S1477 (e-PCR)
- UniSTS:474482

G35510 (e-PCR)
- UniSTS:44150

RH36905 (e-PCR)
- UniSTS:87932

D11S3114 (e-PCR)
- UniSTS:152207

RH103943 (e-PCR)
- UniSTS:98268

WI-12601 (e-PCR)
- UniSTS:64236

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables actin binding	IEA Inferred from Electronic Annotation more info
enables calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables calcium channel activity	TAS Traceable Author Statement more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables myosin binding	IEA Inferred from Electronic Annotation more info
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in actomyosin structure organization	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transmembrane transport	TAS Traceable Author Statement more info
involved_in calcium ion transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium-dependent cell-matrix adhesion	IEA Inferred from Electronic Annotation more info
involved_in monoatomic cation homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic cation transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in necroptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in protein tetramerization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in ruffle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: transient receptor potential cation channel subfamily M member 7

Names: LTRPC ion channel family member 7; channel-kinase 1; long transient receptor potential channel 7; transient receptor potential-phospholipase C-interacting kinase

NP_001288141.1

EC 2.7.11.1

NP_060142.3

EC 2.7.11.1

NCBI Reference Sequences (RefSeq)

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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

NG_021363.2 RefSeqGene

Range

5019..134658

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1192

mRNA and Protein(s)

NM_001301212.2 → NP_001288141.1 transient receptor potential cation channel subfamily M member 7 isoform b

See identical proteins and their annotated locations for NP_001288141.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is 1 aa shorter than isoform a.

Source sequence(s)

AC084756, AF346629, AY032950, BC028843, BP354541

Consensus CDS

CCDS73725.1

UniProtKB/TrEMBL

H0YLN8

Related

ENSP00000453277.1, ENST00000560955.5

Conserved Domains (3) summary

smart00811
Location:1597 → 1815

Alpha_kinase; Alpha-kinase family

pfam00520
Location:877 → 1100

Ion_trans; Ion transport protein

pfam16519
Location:1198 → 1249

TRPM_tetra; Tetramerization domain of TRPM
NM_017672.6 → NP_060142.3 transient receptor potential cation channel subfamily M member 7 isoform a

See identical proteins and their annotated locations for NP_060142.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AC084756, AY032950, BC028843, BP354541

Consensus CDS

CCDS42035.1

UniProtKB/Swiss-Prot

Q6ZMF5, Q86VJ4, Q8NBW2, Q96QT4, Q9BXB2, Q9NXQ2

Related

ENSP00000495860.1, ENST00000646667.1

Conserved Domains (3) summary

smart00811
Location:1598 → 1816

Alpha_kinase; Alpha-kinase family

pfam00520
Location:877 → 1100

Ion_trans; Ion transport protein

pfam16519
Location:1198 → 1249

TRPM_tetra; Tetramerization domain of TRPM

RNA

NR_149152.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC084756, BC028843
NR_149153.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC084756, BC028843
NR_149154.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC084756, BC028843