2. Gene
  3. GBX2 - gastrulation brain homeobox 2 Gene

GBX2 - gastrulation brain homeobox 2 Gene

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

中文名称：原肠胚形成脑同源盒 2

种属: Homo sapiens

基因 ID: 2637 | 基因类型: protein coding

关于 GBX2

Cytogenetic location: 2q37.2 Genomic coordinates (GRCh38): 2:236,161,340-236,168,386 (from NCBI)

This gene has 3 transcripts (splice variants), 187 orthologues and 1 paralogue. Low expression observed in reference dataset.

功能概要

启用序列特异性双链 DNA 结合活性。预计参与神经系统发育的调节和 RNA 聚合酶 II 的转录调节。预计在几个过程的上游或内部起作用，包括参与血管形态发生的分支；神经系统发育；和神经嵴细胞迁移。预测是染色质的一部分。预计活跃于核心。 [由基因组资源联盟提供，2022 年 4 月]

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of nervous system development and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including branching involved in blood vessel morphogenesis; nervous system development; and neural crest cell migration. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

GBX2 基因产物(2)

mRNA Protein Name
NM_001301687.2 NP_001288616.1 homeobox protein GBX-2 isoform 2
NM_001485.4 NP_001476.2 homeobox protein GBX-2 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 sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 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

GBX2 蛋白结构

Homeobox

Homeobox: Homeobox domain (248 - 304)

  • 0
  • 100
  • 200
  • 300
  • 348 a.a.
蛋白主名 其他名称

homeobox protein GBX-2

gastrulation and brain-specific homeobox protein 2

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 28

DEE28

Epileptic Encephalopathy, Early Infantile, 28

Eiee28

Developmental And Epileptic Encephalopathy, 28

Early Infantile Epileptic Encephalopathy 28

Encephalopathy, Epileptic, Early Infantile, Type 28
Arthrogryposis, Distal, Type 1a

Distal Arthrogryposis Type 1

Digitotalar Dysmorphism

DA1A

Da1

Amcd1

Arthrogryposis, Distal, Type 2b4

Distal Arthrogryposis Type 1a

Arthrogryposis, Distal, Type 1

Arthrogryposis Multiplex Congenita Distal Type 1

Arthrogryposis Multiplex Congenita, Distal Type 1

Arthrogryposis Multiplex Congenita, Distal, Type I

Distal Arthrogryposis Type 1b

Arthrogryposis, Distal, 1a

Amc

Arthrogryposis Multiplex Congenita

Arthrogryposis, Distal, 2b4

DA2B4

Arthrogryposis Multiplex Congenita, Distal, Type 1

Arthrogryposis
Charge Syndrome

Charge Association

Hall-Hittner Syndrome

Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies

Hhs

Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies

Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome

CHARGES
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
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-RS05315 GBX2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus GBX2 VGNC VGNC:29276
Macaca mulatta GBX2 VGNC VGNC:72896
Felis catus GBX2 VGNC VGNC:80216
Mus musculus GBX2 MGD MGI:95668
Rattus norvegicus GBX2 RGD RGD:621866
Canis familiaris GBX2 VGNC VGNC:41135
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