1. Gene
  2. MATN2 - matrilin 2 Gene

MATN2 - matrilin 2 Gene

Homo sapiens
Gene ID: 4147 | Gene type: protein coding

About MATN2

Cytogenetic location: 8q22.1-q22.2 Genomic coordinates (GRCh38): 8:97,869,064-98,036,724 (from NCBI)

This gene has 18 transcripts (splice variants), 193 orthologues and 12 paralogues. Broad expression in thyroid (RPKM 133.8), placenta (RPKM 60.9) and 20 other tissues.

Summary

This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

MATN2 Products(3)

mRNA Protein Name
NM_001317748.2 NP_001304677.1 matrilin-2 isoform c precursor
NM_002380.5 NP_002371.3 matrilin-2 isoform a precursor
NM_030583.4 NP_085072.2 matrilin-2 isoform b precursor

MATN2 Protein Structure

VWA

VWA: von Willebrand factor type A domain (57 - 228)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (242 - 277)

EGF_CA

EGF_CA: Calcium-binding EGF domain (283 - 318)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (324 - 359)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (365 - 400)

cEGF

cEGF: Complement Clr-like EGF-like (423 - 445)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (570 - 605)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (611 - 646)

VWA

VWA: von Willebrand factor type A domain (655 - 829)

Matrilin_ccoil

Matrilin_ccoil: Trimeric coiled-coil oligomerisation domain of matrilin (909 - 954)

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  • 957 a.a.
Protein Preferred Names Protein Names

matrilin-2

testis tissue sperm-binding protein Li 94mP

Related Diseases

Diseases Alias
Ovarian Endometrial Cancer

Endometrioid Neoplasm Of Ovary

Malignant Ovarian Endometrioid Tumor

Ovarian Endometrioid Neoplasm

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta MATN2 VGNC VGNC:74665
Canis familiaris MATN2 VGNC VGNC:43040
Felis catus MATN2 VGNC VGNC:68195
Mus musculus MATN2 MGD MGI:109613
Bos taurus MATN2 VGNC VGNC:31265
Rattus norvegicus MATN2 RGD RGD:1305353