2. Gene
  3. BEGAIN - brain enriched guanylate kinase associated Gene

BEGAIN - brain enriched guanylate kinase associated Gene

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

中文名称：脑富集鸟苷酸激酶相关

种属: Homo sapiens

基因 ID: 57596 | 基因类型: protein coding

关于 BEGAIN

Cytogenetic location: 14q32.2 Genomic coordinates (GRCh38): 14:100,537,147-100,587,417 (from NCBI)

This gene has 11 transcripts (splice variants) and 116 orthologues. Broad expression in brain (RPKM 1.4), adrenal (RPKM 0.4) and 14 other tissues.

功能概要

预计参与突触后神经递质受体活性的调节。预计在诱发的兴奋性突触后电位的上游或内部起作用。预测位于树突中；核;和突触前。预计在谷氨酸能突触和突触后活跃。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to be involved in regulation of postsynaptic neurotransmitter receptor activity. Predicted to act upstream of or within evoked excitatory postsynaptic potential. Predicted to be located in dendrite; nucleus; and presynapse. Predicted to be active in glutamatergic synapse and postsynapse. [provided by Alliance of Genome Resources, Apr 2022]

BEGAIN 基因产物(25)

mRNA Protein Name
NM_001159531.2 NP_001153003.1 brain-enriched guanylate kinase-associated protein isoform 1
NM_001385082.1 NP_001372011.1 brain-enriched guanylate kinase-associated protein isoform 1
NM_001385083.1 NP_001372012.1 brain-enriched guanylate kinase-associated protein isoform 1
NM_001385084.1 NP_001372013.1 brain-enriched guanylate kinase-associated protein isoform 1
NM_001385085.1 NP_001372014.1 brain-enriched guanylate kinase-associated protein isoform 2
NM_001385086.1 NP_001372015.1 brain-enriched guanylate kinase-associated protein isoform 3
NM_001385087.1 NP_001372016.1 brain-enriched guanylate kinase-associated protein isoform 4
NM_001385088.1 NP_001372017.1 brain-enriched guanylate kinase-associated protein isoform 5
NM_001385089.1 NP_001372018.1 brain-enriched guanylate kinase-associated protein isoform 6
NM_001385090.1 NP_001372019.1 brain-enriched guanylate kinase-associated protein isoform 7
NM_001385091.1 NP_001372020.1 brain-enriched guanylate kinase-associated protein isoform 8
NM_001385092.1 NP_001372021.1 brain-enriched guanylate kinase-associated protein isoform 9
NM_001385093.1 NP_001372022.1 brain-enriched guanylate kinase-associated protein isoform 10
NM_001385094.1 NP_001372023.1 brain-enriched guanylate kinase-associated protein isoform 11
NM_001385095.1 NP_001372024.1 brain-enriched guanylate kinase-associated protein isoform 12
NM_001385096.1 NP_001372025.1 brain-enriched guanylate kinase-associated protein isoform 13
NM_001385097.1 NP_001372026.1 brain-enriched guanylate kinase-associated protein isoform 13
NM_001385098.1 NP_001372027.1 brain-enriched guanylate kinase-associated protein isoform 13
NM_001385099.1 NP_001372028.1 brain-enriched guanylate kinase-associated protein isoform 13
NM_001385100.1 NP_001372029.1 brain-enriched guanylate kinase-associated protein isoform 13
NM_001385101.1 NP_001372030.1 brain-enriched guanylate kinase-associated protein isoform 14
NM_001385102.1 NP_001372031.1 brain-enriched guanylate kinase-associated protein isoform 14
NM_001385103.1 NP_001372032.1 brain-enriched guanylate kinase-associated protein isoform 14
NM_001385104.1 NP_001372033.1 brain-enriched guanylate kinase-associated protein isoform 14
NM_020836.4 NP_065887.1 brain-enriched guanylate kinase-associated protein isoform 1
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
蛋白主名 其他名称

brain-enriched guanylate kinase-associated protein

brain-enriched guanylate kinase-associated homolog

BEGAIN 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 BEGAIN Q9BUH8 ZNF774 Homo sapiens Q6NX45
Validated Y2H
25416956
Intra BEGAIN Q9BUH8 ZNF774 Homo sapiens Q6NX45
Y2H Prey Pooling
25416956
Intra BEGAIN Q9BUH8 ZNF319 Homo sapiens Q9P2F9
Validated Y2H
32296183
Intra BEGAIN Q9BUH8 KIFC3 Homo sapiens Q9BVG8-5
Validated Y2H
32296183
Intra BEGAIN Q9BUH8 TRAF4 Homo sapiens Q9BUZ4
Validated Y2H
32296183
Intra BEGAIN Q9BUH8 CDC23 Homo sapiens Q9UJX2
Validated Y2H
32296183
Intra BEGAIN Q9BUH8 ZNF835 Homo sapiens Q9Y2P0
Validated Y2H
32296183
Intra BEGAIN Q9BUH8 ZNF417 Homo sapiens Q8TAU3
Y2H Pooling
16189514
Intra BEGAIN Q9BUH8 ENKD1 Homo sapiens Q9H0I2
Y2H Pooling
16189514
Intra BEGAIN Q9BUH8 ENKD1 Homo sapiens Q9H0I2
Validated Y2H
32296183
Intra BEGAIN Q9BUH8 RBL1 Homo sapiens P28749
Pull Down
16189514
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
Cataract 4, Multiple Types

Cataract 4 Multiple Types

CTRCT4

Cca3

Pcc

Aculeiform Cataract

Cataract 4, Multiple Types, With Or Without Microcornea

Cataract, Crystalline Aculeiform

Caca

Cataract, Congenital, Cerulean Type, 3

Congenital Cataract Cerulean Type 3

Cataract Congenital Dominant Non Nuclear

Ccp

Cataract, Nonnuclear Polymorphic Congenital

Cataract, Punctate, Progressive Juvenile-Onset

Cataract 4 Multiple Types With Or Without Microcornea

Autosomal Dominant Nonnuclear Polymorphic Congenital Cataract

Cataract, Polymorphic Congenital

Congenital Cataract Blue Dot Type 3

Congenital Non-Nuclear Polymorphic Cataract

Crystalline Aculeiform Cataract

Punctate, Progressive Juvenile-Onset, Cataract

Cataract, Nonnuclear Polymorphic Congenital, Autosomal Dominant
Developmental And Epileptic Encephalopathy 66

DEE66

Epileptic Encephalopathy, Early Infantile, 66

Eiee66

Developmental And Epileptic Encephalopathy, 66

Early Infantile Epileptic Encephalopathy 66

Encephalopathy, Epileptic, Early Infantile, Type 66
Kagami-Ogata Syndrome

Paternal Uniparental Disomy Of Chromosome 14

Uniparental Disomy, Paternal, Chromosome 14

Kos

Mca Due To 14q32.2 Maternally Expressed Gene Defect

Paternal Uniparental Disomy 14

Kagami-Ogata Syndrome Due To Maternal 14q32.2 Microdeletion

Maternal Del(14)(Q32.2)

Maternal Monosomy 14q32.2

Kagami-Ogata Syndrome Due To Maternal 14q32.2 Hypermethylation

Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14

Upd(14)Pat
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-RS01467 BEGAIN Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus BEGAIN RGD RGD:708347
Canis familiaris BEGAIN VGNC VGNC:38429
Felis catus BEGAIN VGNC VGNC:60100
Bos taurus BEGAIN VGNC VGNC:26465
Mus musculus BEGAIN MGD MGI:3044626
Macaca mulatta BEGAIN VGNC VGNC:70124
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