(Q15324120)

English

TRPV4

protein-coding gene in the species Homo sapiens

BCYM3
CMT2C
HMSN2C
OTRPC4
SMAL
SPSMA
SSQTL1
TRP12
VRL2
VROAC
transient receptor potential cation channel subfamily V member 4

In more languages

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111199

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000111199

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111199

Transient receptor potential cation channel subfamily V member 4

1 reference

6 July 2017

UniProt protein ID

genetic association

spondylometaphyseal dysplasia, Kozlowski type

3 references

UniProt protein ID

13 August 2019

27 December 2021

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d93031fa-8ea5-465a-a903-6e7ae36a5faa-2021-06-07T160000.000Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000111199/MONDO_0008477

based on heuristic

inferred from an Open Targets association score over 0.7

metatropic dysplasia

spondyloepiphyseal dysplasia, Maroteaux type

1 reference

UniProt protein ID

13 August 2019

parastremmatic dwarfism

1 reference

UniProt protein ID

13 August 2019

familial digital arthropathy-brachydactyly

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000111199/MONDO_0011732

based on heuristic

inferred from an Open Targets association score over 0.7

neuromuscular disease

1 reference

20 December 2021

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b89b03c3-24c7-4424-989c-abd65eb2b7ec-2021-12-14T145310.482Z

scapuloperoneal spinal muscular atrophy

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000111199/EFO_1001992

based on heuristic

inferred from an Open Targets association score over 0.7

autosomal dominant congenital benign spinal muscular atrophy

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000111199/MONDO_0010839

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 12

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111199

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111199

110220890

human chromosome 12

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111199

109783087

human chromosome 12

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111199

110271212

human chromosome 12

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111199

109833406

human chromosome 12

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111199

cytogenetic location

12q24.11

1 reference

15 May 2022

11003

1 reference

15 May 2022

Gene Atlas image

PBB GE TRPV4 219516 at fs.png
732 × 530; 12 KB

0 references

1 reference

HomoloGene build68

11003

1 reference

HomoloGene build68

11003

1 reference

HomoloGene build68

11003

minor salivary gland

1

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000111199

stromal cell of endometrium

2

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000111199

3

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000111199

4

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000111199

5

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000111199

bronchial epithelial cell

6

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000111199

skin of abdomen

7

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000111199

right lobe of liver

8

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000111199

secondary oocyte

9

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000111199

10

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000111199

http://identifiers.org/ncbigene/59341

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

10 April 2022

1 reference

10 April 2022

1 reference

10 April 2022

1 reference

10 April 2022

1 reference

15 May 2022

Ensembl gene ID

ENSG00000111199

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111199

Ensembl transcript ID

ENST00000544971

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111199

ENST00000261740

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111199

ENST00000418703

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111199

ENST00000536838

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111199

ENST00000537083

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111199

ENST00000538125

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111199

ENST00000541794

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111199

ENST00000674908

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111199

ENST00000675533

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111199

ENST00000675670

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111199

ENST00000676376

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111199

0 references

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 2022

Microsoft Academic ID

0 references

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

26 January 2022

https://docs.openalex.org/download-snapshot/snapshot-data-format

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

15 June 2023

Sitelinks

Wikipedia(4 entries)

enwiki TRPV4
eswiki TRPV4
frwiki TRPV4
ukwiki TRPV4

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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