1. Gene
  2. MAMDC2 - MAM domain containing 2 Gene

MAMDC2 - MAM domain containing 2 Gene

中文名称:含 MAM 域 2

种属: Homo sapiens

基因 ID: 256691 | 基因类型: protein coding

关于 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.

功能概要

预测启用糖胺聚糖结合活性。预计通过软骨素 4-硫酸盐糖胺聚糖作用于肽交联的上游或内部。位于内质网。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

MAMDC2 蛋白结构

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.
蛋白主名 其他名称

MAM domain-containing protein 2

MAM domain-containing proteoglycan

关联疾病

疾病名称 别名
Char Syndrome

Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits

CHAR

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
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