1. Gene
  2. ISL2 - ISL LIM homeobox 2 Gene

ISL2 - ISL LIM homeobox 2 Gene

中文名称:ISL LIM 同源框 2

种属: Homo sapiens

基因 ID: 64843 | 基因类型: protein coding

关于 ISL2

Cytogenetic location: 15q24.3 Genomic coordinates (GRCh38): 15:76,336,773-76,342,475 (from NCBI)

This gene has 3 transcripts (splice variants), 257 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。预测参与轴突发生;神经元命运规范; RNA 聚合酶 II 对转录的调控。预计在神经元分化和神经元分化的负调节上游或负调节内起作用。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 axonogenesis; neuron fate specification; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of neuron differentiation and neuron differentiation. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

ISL2 基因产物(1)

mRNA Protein Name
NM_145805.3 NP_665804.1 insulin gene enhancer protein ISL-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
27820671 GOA
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

ISL2 蛋白结构

LIM

LIM: LIM domain (27 - 85)

LIM

LIM: LIM domain (89 - 143)

Homeobox

Homeobox: Homeobox domain (193 - 248)

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

insulin gene enhancer protein ISL-2

ISL2 transcription factor, LIM/homeodomain, (islet-2)

关联疾病

疾病名称 别名
Amme Complex

Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis

ATS-MR

Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome

Chromosome Xq22.3 Telomeric Deletion Syndrome

Amme Syndrome

Alport Syndrome With Intellectual Disability, Midface Hypoplasia And Elliptocytosis

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
Felis catus ISL2 VGNC VGNC:62975
Rattus norvegicus ISL2 RGD RGD:621849
Macaca mulatta ISL2 VGNC VGNC:108307
Mus musculus ISL2 MGD MGI:109156
Bos taurus ISL2 VGNC VGNC:30297