(Q5145886)

English

COL4A1

protein-coding gene in the species Homo sapiens

HANAC
ICH
POREN1
arresten
BSVD
RATOR
collagen type IV alpha 1
collagen type IV alpha 1 chain
BSVD1
PADMAL
COL4A1s

In more languages

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

protein-coding gene

1 reference

NCBI homo sapiens annotation release 107

2 October 2016

Protein COL4A1 PDB 1li1.png
1,057 × 748; 799 KB

0 references

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

Collagen type IV alpha 1 chain

1 reference

6 July 2017

UniProt protein ID

genetic association

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_9970&ncbiId=1282

http://www.genome.gov/gwastudies/index.cfm?gene=COL4A1

Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population

25 May 2020

1 reference

UniProt protein ID

13 August 2019

autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

2 references

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000187498/MONDO_0012726

based on heuristic

inferred from an Open Targets association score over 0.7

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000187498/Orphanet_73229

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 13

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

110148963

human chromosome 13

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

110801318

human chromosome 13

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

110959496

human chromosome 13

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

110307157

human chromosome 13

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

cytogenetic location

13q34

1 reference

15 May 2022

20437

1 reference

15 May 2022

Gene Atlas image

PBB GE COL4A1 211980 at fs.png
732 × 530; 11 KB

0 references

PBB GE COL4A1 211981 at fs.png
732 × 530; 11 KB

0 references

1 reference

HomoloGene build68

20437

1 reference

HomoloGene build68

20437

1 reference

HomoloGene build68

20437

visceral pleura

1

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000187498

2

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000187498

right coronary artery

3

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000187498

stromal cell of endometrium

4

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000187498

left coronary artery

5

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000187498

popliteal artery

6

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000187498

7

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000187498

ascending aorta

8

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000187498

9

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000187498

10

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000187498

http://identifiers.org/ncbigene/1282

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

Ensembl gene ID

ENSG00000187498

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

Ensembl transcript ID

ENST00000375820

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

ENST00000467182

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

ENST00000474391

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

ENST00000543140

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

ENST00000615732

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

ENST00000649720

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

ENST00000650138

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

ENST00000650424

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

ENST00000650566

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

ENST00000648695

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

ENST00000650115

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

ENST00000648966

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

ENST00000648989

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

ENST00000648170

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

ENST00000647632

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

ENST00000649738

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

ENST00000647797

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

ENST00000649484

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000187498

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

15 June 2023

Sitelinks

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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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