1. Gene
  2. BNC2 - basonuclin 2 Gene

BNC2 - basonuclin 2 Gene

中文名称:碱性核蛋白 2

种属: Homo sapiens

同用名: BSN2; LUTO

基因 ID: 54796 | 基因类型: protein coding

关于 BNC2

Cytogenetic location: 9p22.3-p22.2 Genomic coordinates (GRCh38): 9:16,409,503-16,870,670 (from NCBI)

This gene has 16 transcripts (splice variants), 217 orthologues, 1 paralogue and is associated with 3 phenotypes. Biased expression in endometrium (RPKM 6.6), ovary (RPKM 5.5) and 13 other tissues.

功能概要

该基因编码一种保守的锌指蛋白。编码的蛋白质在肤色饱和度中起作用。该基因的突变与面部色素斑有关。该基因还与青少年特发性脊柱侧弯的易感性有关。[RefSeq 提供,2016 年 7 月]

This gene encodes a conserved zinc finger protein. The encoded protein functions in skin color saturation. Mutations in this gene are associated with facial pigmented spots. This gene is also associated with susceptibility to adolescent idiopathic scoliosis. [provided by RefSeq, Jul 2016]

BNC2 基因产物(3)

mRNA Protein Name
NM_001317939.2 NP_001304868.1 zinc finger protein basonuclin-2 isoform 2
NM_001317940.2 NP_001304869.1 zinc finger protein basonuclin-2 isoform 3
NM_017637.6 NP_060107.3 zinc finger protein basonuclin-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 protein binding IPI
IPI: 通过物理相互作用推断
32296183 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

BNC2 蛋白结构

zf-met

zf-met: Zinc-finger of C2H2 type (442 - 461)

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (834 - 856)

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (861 - 883)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (1036 - 1058)

  • 0
  • 200
  • 400
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  • 800
  • 1000
  • 1099 a.a.
蛋白主名 其他名称

zinc finger protein basonuclin-2

关联疾病

疾病名称 别名
Lower Urinary Tract Obstruction, Congenital

LUTO

Posterior Urethral Valves

Posterior Urethral Valve

Congenital Posterior Urethral Valves

Puv

Urinary Tract Obstruction

Obstructive Uropathy

Urinary Obstruction

Urologic Diseases

Idiopathic Scoliosis

Scoliosis Idiopathic

Scoliosis
Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency

Favism

Favism, Susceptibility To

Hemolytic Anemia, G6pd Deficient

Class I Glucose-6-Phosphate Dehydrogenase Deficiency

Class I G6pd Deficiency

Severe Hemolytic Anemia Due To G6pd Deficiency

Anemia, Non-Spherocytic Hemolytic, Due To G6pd Deficiency

NSHA

G6pd Deficient Hemolytic Anemia

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
Bos taurus BNC2 VGNC VGNC:56936
Macaca mulatta BNC2 VGNC VGNC:70448
Mus musculus BNC2 MGD MGI:2443805
Felis catus BNC2 VGNC VGNC:60142
Rattus norvegicus BNC2 RGD RGD:1310694
Canis familiaris BNC2 VGNC VGNC:38491