MAMDC2 - MAM domain containing 2 Gene

Homo sapiens

Gene ID: 256691 | Gene type: protein coding

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

MAMDC2 Protein Structure

MAM

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07998	MAMDC2 Human Pre-designed siRNA Set A		/	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

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