1. Gene
  2. DLG2 - discs large MAGUK scaffold protein 2 Gene

DLG2 - discs large MAGUK scaffold protein 2 Gene

中文名称:圆盘大 MAGUK 支架蛋白 2

种属: Homo sapiens

同用名: PSD93; PSD-93; PPP1R58; chapsyn-110

基因 ID: 1740 | 基因类型: protein coding

关于 DLG2

Cytogenetic location: 11q14.1 Genomic coordinates (GRCh38): 11:83,455,012-85,628,373 (from NCBI)

This gene has 50 transcripts (splice variants), 219 orthologues and 3 paralogues. Biased expression in brain (RPKM 9.7), adrenal (RPKM 2.3) and 5 other tissues.

功能概要

该基因编码膜相关鸟苷酸激酶 (MAGUK) 家族的成员。编码的蛋白质与相关家族成员形成异二聚体,该家族成员可能在突触后位点相互作用,形成多聚支架,用于受体、离子通道和相关信号蛋白的聚集。已发现该基因编码不同异构体的多个转录变体。已经描述了其他转录本变体,但它们的全长性质尚不清楚。[RefSeq 提供,2008 年 12 月]

This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The encoded protein forms a heterodimer with a related family member that may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described, but their full-length nature is not known. [provided by RefSeq, Dec 2008]

DLG2 基因产物(26)

mRNA Protein Name
NM_001142699.3 NP_001136171.1 disks large homolog 2 isoform 1
NM_001142700.2 NP_001136172.1 disks large homolog 2 isoform 3
NM_001142702.2 NP_001136174.1 disks large homolog 2 isoform 4
NM_001206769.2 NP_001193698.1 disks large homolog 2 isoform 5
NM_001300983.1 NP_001287912.1 disks large homolog 2 isoform 6
NM_001351274.2 NP_001338203.1 disks large homolog 2 isoform 7
NM_001351275.2 NP_001338204.1 disks large homolog 2 isoform 8
NM_001351276.2 NP_001338205.1 disks large homolog 2 isoform 9
NM_001364.3 NP_001355.2 disks large homolog 2 isoform 2
NM_001377966.1 NP_001364895.1 disks large homolog 2 isoform 10
NM_001377967.1 NP_001364896.1 disks large homolog 2 isoform 11
NM_001377968.1 NP_001364897.1 disks large homolog 2 isoform 12
NM_001377970.1 NP_001364899.1 disks large homolog 2 isoform 13
NM_001377971.1 NP_001364900.1 disks large homolog 2 isoform 14
NM_001377972.1 NP_001364901.1 disks large homolog 2 isoform 15
NM_001377973.1 NP_001364902.1 disks large homolog 2 isoform 16
NM_001377974.1 NP_001364903.1 disks large homolog 2 isoform 17
NM_001377975.1 NP_001364904.1 disks large homolog 2 isoform 18
NM_001377976.1 NP_001364905.1 disks large homolog 2 isoform 19
NM_001377977.1 NP_001364906.1 disks large homolog 2 isoform 20
NM_001377978.1 NP_001364907.1 disks large homolog 2 isoform 21
NM_001377979.1 NP_001364908.1 disks large homolog 2 isoform 22
NM_001377980.1 NP_001364909.1 disks large homolog 2 isoform 23
NM_001377981.1 NP_001364910.1 disks large homolog 2 isoform 24
NM_001377982.1 NP_001364911.1 disks large homolog 2 isoform 25
NM_001377983.1 NP_001364912.1 disks large homolog 2 isoform 26
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 protein binding IPI
IPI: 通过物理相互作用推断
15304517 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

DLG2 蛋白结构

MAGUK_N_PEST

MAGUK_N_PEST: Polyubiquitination (PEST) N-terminal domain of MAGUK (14 - 97)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (98 - 181)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (194 - 276)

PDZ_assoc

PDZ_assoc: PDZ-associated domain of NMDA receptors (278 - 345)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (422 - 497)

SH3_2

SH3_2: Variant SH3 domain (540 - 599)

Guanylate_kin

Guanylate_kin: Guanylate kinase (680 - 856)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 870 a.a.
蛋白主名 其他名称

disks large homolog 2

channel-associated protein of synapse-110

DLG2 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
Intra DLG2 Q15700 RPF2 Homo sapiens Q9H7B2
Validated Y2H
32296183
Intra DLG2 Q15700 FA2H Homo sapiens Q7L5A8
Validated Y2H
32296183
Intra DLG2 Q15700 DLGAP1 Homo sapiens Q6IS01
Validated Y2H
32296183
Intra DLG2 Q15700 DLGAP2 Homo sapiens Q9P1A6-3
Validated Y2H
32296183
Intra DLG2 Q15700 PPIL4 Homo sapiens Q8WUA2
Validated Y2H
32296183
Intra DLG2 Q15700 SERPINB13 Homo sapiens Q9UIV8
Validated Y2H
32296183
Intra DLG2 Q15700 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
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Childhood Osteosarcoma

Pediatric Osteosarcoma

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12

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 DLG2 MGD MGI:1344351
Rattus norvegicus DLG2 RGD RGD:619895
Macaca mulatta DLG2 VGNC VGNC:81388
Canis familiaris DLG2 VGNC VGNC:39978