2. Gene
  3. DLG3 - discs large MAGUK scaffold protein 3 Gene

DLG3 - discs large MAGUK scaffold protein 3 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：圆盘大 MAGUK 支架蛋白 3

种属: Homo sapiens

同用名: MRX; XLMR; MRX90; NEDLG; SAP102; XLID90; PPP1R82

基因 ID: 1741 | 基因类型: protein coding

关于 DLG3

Cytogenetic location: Xq13.1 Genomic coordinates (GRCh38): X:70,444,835-70,505,490 (from NCBI)

This gene has 10 transcripts (splice variants), 217 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 7.8), colon (RPKM 6.2) and 23 other tissues.

功能概要

该基因编码膜相关鸟苷酸激酶蛋白家族的成员。编码的蛋白质可能在兴奋性突触处的 NMDA 受体聚集中发挥作用。它还可能通过与腺瘤性息肉病大肠杆菌肿瘤抑制蛋白的 C 末端区域相互作用来负向调节细胞增殖。该基因的突变与 X 连锁认知障碍有关。已经描述了选择性剪接的转录物变体。[RefSeq 提供，2009 年 10 月]

This gene encodes a member of the membrane-associated guanylate kinase protein family. The encoded protein may play a role in clustering of NMDA receptors at excitatory synapses. It may also negatively regulate cell proliferation through interaction with the C-terminal region of the adenomatosis polyposis coli tumor suppressor protein. Mutations in this gene have been associated with X-linked cognitive disability. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]

DLG3 基因产物(3)

mRNA Protein Name
NM_001166278.2 NP_001159750.1 disks large homolog 3 isoform c
NM_020730.3 NP_065781.1 disks large homolog 3 isoform b
NM_021120.4 NP_066943.2 disks large homolog 3 isoform a
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 kinase binding IDA
IDA: 通过直接分析推断
21119615 GOA
enables phosphatase binding IDA
IDA: 通过直接分析推断
19389623 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19118189 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

DLG3 蛋白结构

MAGUK_N_PEST

MAGUK_N_PEST: Polyubiquitination (PEST) N-terminal domain of MAGUK (50 - 121)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (132 - 214)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (227 - 309)

PDZ_assoc

PDZ_assoc: PDZ-associated domain of NMDA receptors (311 - 385)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (387 - 462)

SH3_1

SH3_1: SH3 domain (507 - 563)

Guanylate_kin

Guanylate_kin: Guanylate kinase (627 - 803)

  • 0
  • 200
  • 400
  • 600
  • 817 a.a.
蛋白主名 其他名称

disks large homolog 3

discs, large homolog 3

DLG3 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
DLG3 Q92796 DLGAP2 Homo sapiens Q9P1A6-3
Validated Y2H
32296183
种属内
DLG3 Q92796 OSBP2 Homo sapiens Q969R2-2
Validated Y2H
32296183
种属内
DLG3 Q92796 PPP1CA Homo sapiens P62136
Pull Down
19389623
种属内
DLG3 Q92796 PLEKHA2 Homo sapiens Q9HB19
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, X-Linked 90

XLID90

Mrx90
Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability
Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability
Non-Syndromic X-Linked Intellectual Disability 90

Mrx90
Chromosome 3q29 Deletion Syndrome

Chromosome 3q29 Microdeletion Syndrome

3q29 Microdeletion Syndrome

3q Subtelomere Deletion Syndrome

3q29 Recurrent Deletion

3qter Deletion

3q29 Deletion Syndrome

Monosomy 3q29

Microdeletion 3q29 Syndrome

Del(3)(Q29)

Monosomy 3qter

3q29 Deletion

Del3q29
Acquired Color Blindness

Acquired Color Vision Deficiencies

Acquired Color Vision Deficiency

Acquired Colour Blindness

Acquired Colour Vision Deficiencies

Acquired Colour Vision Deficiency
Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1
Immunodeficiency 46

Tfrc-Related Combined Immunodeficiency

IMD46

Cid Due To Tfrc Deficiency

Combined Immunodeficiency Due To Tfrc Deficiency
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03798 DLG3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus DLG3 MGD MGI:1888986
Rattus norvegicus DLG3 RGD RGD:68423
Macaca mulatta DLG3 VGNC VGNC:71919
Bos taurus DLG3 VGNC VGNC:56704
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