1. Gene
  2. MDGA2 - MAM domain containing glycosylphosphatidylinositol anchor 2 Gene

MDGA2 - MAM domain containing glycosylphosphatidylinositol anchor 2 Gene

Homo sapiens

Also known as MAMDC1; c14_5286

Gene ID: 161357 | Gene type: protein coding

About MDGA2

Cytogenetic location: 14q21.3 Genomic coordinates (GRCh38): 14:46,839,623-47,675,605 (from NCBI)

This gene has 10 transcripts (splice variants), 288 orthologues and 4 paralogues. Biased expression in brain (RPKM 1.3) and testis (RPKM 0.6).

Summary

Predicted to be involved in regulation of presynapse assembly; regulation of synaptic membrane adhesion; and spinal cord motor neuron differentiation. Predicted to act upstream of or within neuron migration and pattern specification process. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in GABA-ergic synapse and glutamatergic synapse. [provided by Alliance of Genome Resources, Apr 2022]

MDGA2 Products(2)

mRNA Protein Name
NM_001113498.3 NP_001106970.4 MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform 1
NM_182830.4 NP_878250.2 MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform 2

MDGA2 Protein Structure

I-set

I-set: Immunoglobulin I-set domain (50 - 118)

Ig_3

Ig_3: Immunoglobulin domain (134 - 219)

Ig_2

Ig_2: Immunoglobulin domain (250 - 328)

I-set

I-set: Immunoglobulin I-set domain (345 - 424)

I-set

I-set: Immunoglobulin I-set domain (447 - 518)

Ig_2

Ig_2: Immunoglobulin domain (555 - 620)

MAM

MAM: MAM domain, meprin/A5/mu (748 - 920)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 956 a.a.
Protein Preferred Names Protein Names

MAM domain-containing glycosylphosphatidylinositol anchor protein 2

MAM domain containing 1

Related Diseases

Diseases Alias
Dependent Personality Disorder
Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy

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
Mus musculus MDGA2 MGD MGI:2444706
Canis familiaris MDGA2 VGNC VGNC:43102
Macaca mulatta MDGA2 VGNC VGNC:74537
Rattus norvegicus MDGA2 RGD RGD:735131
Bos taurus MDGA2 VGNC VGNC:31332
Others MDGA2 NCBI