MATN1 (matrilin 1)

2014-08-01  

Identity

HGNC
LOCATION
1p35.2
LOCUSID
ALIAS
CMP,CRTM
FUSION GENES

Other Information

Locus ID:

NCBI: 4146
MIM: 115437
HGNC: 6907
Ensembl: ENSG00000162510

Variants:

dbSNP: 4146
ClinVar: 4146
TCGA: ENSG00000162510
COSMIC: MATN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162510ENST00000373765P21941

Expression (GTEx)

0
1
2

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
ECM proteoglycansREACTOMER-HSA-3000178

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
303588522019Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community.2
303588522019Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community.2
294075032018Relationship between matrilin-1 gene polymorphisms and mandibular retrognathism.7
294075032018Relationship between matrilin-1 gene polymorphisms and mandibular retrognathism.7
244697152014The association of rs1149048 polymorphism in matrilin-1(MATN1) gene with adolescent idiopathic scoliosis susceptibility: a meta-analysis.2
246925602014Matrilin-1 is an inhibitor of neovascularization.11
244697152014The association of rs1149048 polymorphism in matrilin-1(MATN1) gene with adolescent idiopathic scoliosis susceptibility: a meta-analysis.2
246925602014Matrilin-1 is an inhibitor of neovascularization.11
221936232012Associations between matrilin-1 gene polymorphisms and adolescent idiopathic scoliosis curve patterns in a Korean population.3
222789292012Single-nucleotide polymorphism in Turkish patients with adolescent idiopathic scoliosis: curve progression is not related with MATN-1, LCT C/T-13910, and VDR BsmI.5
221936232012Associations between matrilin-1 gene polymorphisms and adolescent idiopathic scoliosis curve patterns in a Korean population.3
222789292012Single-nucleotide polymorphism in Turkish patients with adolescent idiopathic scoliosis: curve progression is not related with MATN-1, LCT C/T-13910, and VDR BsmI.5
213087532011Lack of association between adolescent idiopathic scoliosis and previously reported single nucleotide polymorphisms in MATN1, MTNR1B, TPH1, and IGF1 in a Japanese population.20
213087532011Lack of association between adolescent idiopathic scoliosis and previously reported single nucleotide polymorphisms in MATN1, MTNR1B, TPH1, and IGF1 in a Japanese population.20
207295542010Structural and functional investigations of Matrilin-1 A-domains reveal insights into their role in cartilage ECM assembly.11

Citation

Dessen P

MATN1 (matrilin 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54442/matn1-(matrilin-1)