1. Gene
  2. MPZL2 - myelin protein zero like 2 Gene

MPZL2 - myelin protein zero like 2 Gene

中文名称:髓磷脂蛋白零样 2

种属: Homo sapiens

同用名: EVA; EVA1; DFNB111

基因 ID: 10205 | 基因类型: protein coding

关于 MPZL2

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:118,253,416-118,264,297 (from NCBI)

This gene has 7 transcripts (splice variants), 255 orthologues, 6 paralogues and is associated with 2 phenotypes. Broad expression in esophagus (RPKM 92.3), urinary bladder (RPKM 53.8) and 14 other tissues.

功能概要

胸腺发育取决于胸腺细胞和器官基质成分之间一系列复杂的相互作用。上皮 V 样抗原 (EVA) 在胸腺上皮细胞中表达,并受胸腺细胞发育进程的强烈下调。该基因在胚胎发生早期的胸腺和几种上皮结构中表达。它与髓鞘蛋白零高度同源,并且在胸腺衍生的上皮细胞系中,在非离子洗涤剂中溶解性差,强烈表明与细胞骨架有关。它通过嗜同性相互作用介导细胞粘附的能力及其通过 T 细胞成熟的选择性调节可能意味着 EVA 参与了胸腺器官发生的最早阶段。该蛋白具有一个特征性的 V 型结构域和胞外结构域中的两个潜在 N-糖基化位点;酪蛋白激酶 2 的假定丝氨酸磷酸化位点也存在于细胞质尾部。已发现该基因编码相同蛋白质的两个转录变体。[RefSeq 提供,2008 年 7 月]

Thymus development depends on a complex series of interactions between thymocytes and the stromal component of the organ. Epithelial V-like antigen (EVA) is expressed in thymus epithelium and strongly downregulated by thymocyte developmental progression. This gene is expressed in the thymus and in several epithelial structures early in embryogenesis. It is highly homologous to the myelin protein zero and, in thymus-derived epithelial cell lines, is poorly soluble in nonionic detergents, strongly suggesting an association to the Cytoskeleton. Its capacity to mediate cell adhesion through a homophilic interaction and its selective regulation by T cell maturation might imply the participation of EVA in the earliest phases of thymus organogenesis. The protein bears a characteristic V-type domain and two potential N-glycosylation sites in the extracellular domain; a putative serine phosphorylation site for Casein Kinase 2 is also present in the cytoplasmic tail. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

MPZL2 基因产物(2)

mRNA Protein Name
NM_005797.4 NP_005788.1 myelin protein zero-like protein 2 precursor
NM_144765.3 NP_658911.1 myelin protein zero-like protein 2 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
21982860 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

MPZL2 蛋白结构

V-set

V-set: Immunoglobulin V-set domain (30 - 141)

  • 0
  • 100
  • 200
  • 215 a.a.
蛋白主名 其他名称

myelin protein zero-like protein 2

epithelial V-like antigen 1

重组 MPZL2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P700717 MPZL2 Protein, Human (HEK293, hFc) O60487 (V27-L154) ≥95%

关联疾病

疾病名称 别名
Deafness, Autosomal Recessive 111

DFNB111

Autosomal Recessive Nonsyndromic Deafness 111

Autosomal Recessive Deafness 111

Deafness, Autosomal Recessive, 111

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Exudative Vitreoretinopathy 4

EVR4

Vitreoretinopathy, Exudative 4

Vitreoretinopathy, Exudative, Type 4

Deafness And Myopia

High Myopia-Sensorineural Deafness Syndrome

DFNMYP

Deafness And Myopia Syndrome

Deafness, Cochlear, Plus

High Myopia And Sensorineural Deafness

Myopia And Deafness

High Myopia-Sensorineural Hearing Loss Syndrome

Exudative Vitreoretinopathy 2, X-Linked

EVR2

Evrx

Fevrx

X-Linked Exudative Vitreoretinopathy 2

Exudative Vitreoretinopathy, Familial, 2

Fevr, X-Linked

Vitreoretinopathy, Exudative 2

Exudative Vitreoretinopathy Familial 2

Fevr X-Linked

X-Linked Familial Exudative Vitreoretinopathy

Vitreoretinopathy, Exudative, X-Linked, Type 2

Exudative Vitreoretinopathy, Familial, X-Linked Recessive

Exudative Vitreoretinopathy 3

EVR3

Deafness, Autosomal Dominant 65

DFNA65

Autosomal Dominant Nonsyndromic Deafness 65

Autosomal Dominant Deafness 65

Deafness, Autosomal Dominant, 65

Deafness, Autosomal Dominant, Type 65

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
Bos taurus MPZL2 VGNC VGNC:31593
Felis catus MPZL2 VGNC VGNC:63577
Rattus norvegicus MPZL2 RGD RGD:1307196
Mus musculus MPZL2 MGD MGI:1289160
Macaca mulatta MPZL2 VGNC VGNC:107459
Canis familiaris MPZL2 VGNC VGNC:43355
Others MPZL2 NCBI