MAMDC2 - MAM domain containing 2 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 256691

About MAMDC2

Cytogenetic location: 9q21.12 Genomic coordinates (GRCh38): 9:70,043,581-70,226,972 (from NCBI)

This gene has 2 transcripts (splice variants), 1 gene allele, 237 orthologues and 4 paralogues. Ubiquitous expression in ovary (RPKM 16.0), endometrium (RPKM 14.8) and 24 other tissues.

Summary

Predicted to enable glycosaminoglycan binding activity. Predicted to act upstream of or within peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]

MAMDC2 Products (2)

mRNA Protein Name
NM_001347990.2 NP_001334919.1 MAM domain-containing protein 2 isoform 2 precursor
NM_153267.5 NP_694999.3 MAM domain-containing protein 2 isoform 1 precursor

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MAMDC2 Protein Structure

MAM

MAM: MAM domain, meprin/A5/mu (47 - 168)

MAM

MAM: MAM domain, meprin/A5/mu (170 - 328)

MAM

MAM: MAM domain, meprin/A5/mu (342 - 497)

MAM

MAM: MAM domain, meprin/A5/mu (509 - 665)

  • 0
  • 200
  • 400
  • 600
  • 686 a.a.
Protein Preferred Names Protein Names

MAM domain-containing protein 2

  • MAM domain-containing proteoglycan

Related Diseases

Diseases Alias
Char Syndrome

  • Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits

  • CHAR
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS07998 MAMDC2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus MAMDC2 RGD RGD:1305129
Bos taurus MAMDC2 VGNC VGNC:31157
Mus musculus MAMDC2 MGD MGI:1918988
Canis familiaris MAMDC2 VGNC VGNC:42937
Macaca mulatta MAMDC2 VGNC VGNC:74344
Felis catus MAMDC2 VGNC VGNC:63370
Others MAMDC2 NCBI