1. Gene
  2. AP1M2 - adaptor related protein complex 1 subunit mu 2 Gene

AP1M2 - adaptor related protein complex 1 subunit mu 2 Gene

中文名称:适配器相关蛋白复合物 1 亚基 mu 2

种属: Homo sapiens

同用名: mu2; MU1B; MU-1B; HSMU1B; AP1-mu2

基因 ID: 10053 | 基因类型: protein coding

关于 AP1M2

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:10,572,671-10,587,312 (from NCBI)

This gene has 10 transcripts (splice variants), 196 orthologues and 7 paralogues. Broad expression in thyroid (RPKM 36.9), duodenum (RPKM 29.9) and 16 other tissues.

功能概要

该基因编码异四聚体衔接子相关蛋白复合体 1 (AP-1) 的一个亚基,属于衔接子复合体中等亚基家族。这种蛋白质能够与基于酪氨酸的分选信号相互作用。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 7 月]

This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

AP1M2 基因产物(2)

mRNA Protein Name
NM_001300887.2 NP_001287816.1 AP-1 complex subunit mu-2 isoform 1
NM_005498.5 NP_005489.2 AP-1 complex subunit mu-2 isoform 2
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
16189514 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

AP1M2 蛋白结构

Clat_adaptor_s

Clat_adaptor_s: Clathrin adaptor complex small chain (4 - 135)

Adap_comp_sub

Adap_comp_sub: Adaptor complexes medium subunit family (157 - 421)

  • 0
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  • 200
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  • 423 a.a.
蛋白主名 其他名称

AP-1 complex subunit mu-2

AP-mu chain family member mu1B

关联疾病

疾病名称 别名
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma

Mednik Syndrome

Erythrokeratodermia Variabilis 3

MEDNIK

Ekv3

Erythrokeratodermia Variabilis, Kamouraska Type

Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia

Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome

Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome

Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma

Erythrokeratodermia Variabilis Kamouraska Type

Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma

Pettigrew Syndrome

PGS

Mrxs5

Mrx59

Mrxs21

X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome

Mental Retardation, X-Linked, Syndromic 5

Mrxsf

Syndromic X-Linked Intellectual Disability 5

Fried Syndrome

Mental Retardation, X-Linked Syndromic 5

Mental Retardation, X-Linked, With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures

Mental Retardation, X-Linked, Syndromic, Fried Type

Mental Retardation, X-Linked, Syndromic 21

Syndromic X-Linked Mental Retardation 21

Syndromic X-Linked Mental Retardation Fried Type

X-Linked Metal Retardation With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures

Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease An

Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease And Seizures

X-Linked Syndromic Intellectual Disability 5

X-Linked Intellectual Disability With Dandy-Walker Malformation Basal Ganglia Disease And Seizures

X-Linked Intellectual Disability - Dandy-Walker Malformation - Basal Ganglia Disease - Seizures

X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome

Mental Retardation, X-Linked Syndromic, Fried Type

Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures

Mental Retardation, X-Linked 59

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
Macaca mulatta AP1M2 VGNC VGNC:108467
Canis familiaris AP1M2 VGNC VGNC:37955
Rattus norvegicus AP1M2 RGD RGD:1561490
Mus musculus AP1M2 MGD MGI:1336974
Bos taurus AP1M2 VGNC VGNC:25980
Felis catus AP1M2 VGNC VGNC:67723