(Q14906847)

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

genetic association

autosomal dominant type IV Ehlers-Danlos syndrome

1 reference

13 August 2019

Ehlers-Danlos syndrome, vascular-like type

determination method

TAS

2 references

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

Vascular Ehlers-Danlos Syndrome

Bilateral frontoparietal polymicrogyria

1 reference

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

2 references

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

Isolation and characterization of collagen in Peyronie's disease

chromosome

human chromosome 2

genomic assembly

1 reference

1 reference

189839046

1 reference

188974373

1 reference

189012746

1 reference

189877472

gene deletion association with

1 reference

2q32.2

1 reference

15 May 2022

Bilateral frontoparietal polymicrogyria

2 references

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

HomoloGene ID

55433

1 reference

15 May 2022

PBB GE COL3A1 211161 s at fs.png
732 × 530; 10 KB

0 references

PBB GE COL3A1 201852 x at fs.png
732 × 530; 11 KB

0 references

PBB GE COL3A1 215076 s at fs.png
732 × 530; 11 KB

0 references

increased expression in

2 references

European multicentre study validates enhanced liver fibrosis test as biomarker of fibrosis in systemic sclerosis

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

2 references

Synthesis of type III collagen and type IV collagen by tubular epithelial cells in diabetic nephropathy

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

collagen type III glomerulopathy

2 references

AJKD Atlas of Renal Pathology: Type III Collagen Glomerulopathy.

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

chronic obstructive pulmonary disease

2 references

Development of a Novel Enzyme-Linked Immunosorbent Assay Targeting a Neo-Epitope Generated by Cathepsin-Mediated Turnover of Type III Collagen and Its Application in Chronic Obstructive Pulmonary Disease

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

idiopathic pulmonary fibrosis

2 references

Serum type III procollagen peptide concentration in cryptogenic fibrosing alveolitis and its clinical relevance

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

Dupuytren's contracture

2 references

Collagen Types and Anticollagen-Antibodies in Dupuytren's Disease

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

2 references

Isolation and characterization of collagen in Peyronie's disease

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

2 references

Independent expression of fibril-forming collagens I, II, and III in chondrocytes of human osteoarthritic cartilage

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

2 references

Knockdown of collagen α-1(III) inhibits glioma cell proliferation and migration and is regulated by miR128-3p

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

2 references

Overexpression of COL3A1 confers a poor prognosis in human bladder cancer identified by co-expression analysis

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

2 references

Aberrant type I and type III collagen gene expression in human breast cancer in vivo

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

2 references

55433

https://omabrowser.org/oma/vps/P02461/

2 references

55433

https://omabrowser.org/oma/vps/P02461/

expressed in

skin of hip

1

1 reference

7 June 2024

parietal pleura

2

1 reference

7 June 2024

visceral pleura

3

1 reference

7 June 2024

tendon of biceps brachii

4

1 reference

7 June 2024

periodontal fiber

5

1 reference

7 June 2024

cartilage tissue

6

1 reference

7 June 2024

stromal cell of endometrium

7

1 reference

7 June 2024

skin of thigh

8

1 reference

7 June 2024

skin of arm

9

1 reference

7 June 2024

saphenous vein

10

1 reference

7 June 2024

http://identifiers.org/ncbigene/1281

exact match

1 reference

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

Identifiers.org

reference URL

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

Ensembl transcript ID

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

1 reference

inferred by common HGNC mappings on source and on Wikidata