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

MDGA2 - MAM domain containing glycosylphosphatidylinositol anchor 2 Gene

中文名称:含 MAM 结构域的糖基磷脂酰肌醇锚 2

种属: Homo sapiens

同用名: MAMDC1; c14_5286

基因 ID: 161357 | 基因类型: protein coding

关于 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).

功能概要

预计参与突触前组装的调节;突触膜粘附的调节;和脊髓运动神经元分化。预计在神经元迁移和模式规范过程的上游或内部起作用。预测位于胞外区和质膜。预计在 GABA 能突触和谷氨酸能突触中活跃。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(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 蛋白结构

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
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  • 800
  • 956 a.a.
蛋白主名 其他名称

MAM domain-containing glycosylphosphatidylinositol anchor protein 2

MAM domain containing 1

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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