1. Gene
  2. NSA2 - NSA2 ribosome biogenesis factor Gene

NSA2 - NSA2 ribosome biogenesis factor Gene

中文名称:NSA2 核糖体生物发生因子

种属: Homo sapiens

同用名: HCLG1; TINP1; CDK105; HCL-G1; HUSSY29; HUSSY-29

基因 ID: 10412 | 基因类型: protein coding

关于 NSA2

Cytogenetic location: 5q13.3 Genomic coordinates (GRCh38): 5:74,767,249-74,780,113 (from NCBI)

This gene has 5 transcripts (splice variants) and 175 orthologues. Ubiquitous expression in ovary (RPKM 71.9), lymph node (RPKM 43.0) and 25 other tissues.

功能概要

该基因编码参与细胞周期调节和增殖的核仁蛋白。该基因是根据与编码前核糖体蛋白的高度保守的酿酒酵母基因的序列相似性确定的,该蛋白参与大核糖体亚基生物发生。编码的蛋白质在糖尿病肾病中的水平升高。可变剪接导致多个转录本变体。已经确定了几个相关的假基因。[RefSeq 提供,2012 年 11 月]

This gene encodes a nucleolar protein involved in cell cycle regulation and proliferation. This gene was identified based on sequence similarity to a highly conserved Saccharomyces cerevisiae gene encoding a pre-ribosomal protein, which is involved in large ribosomal subunit biogenesis. The encoded protein is found at elevated levels in diabetic nephropathy. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012]

NSA2 基因产物(3)

mRNA Protein Name
NM_001271665.2 NP_001258594.1 ribosome biogenesis protein NSA2 homolog isoform 2
NM_001364506.2 NP_001351435.1 ribosome biogenesis protein NSA2 homolog isoform 3
NM_014886.6 NP_055701.1 ribosome biogenesis protein NSA2 homolog isoform 1

NSA2 蛋白结构

Ribosomal_S8e

Ribosomal_S8e: Ribosomal protein S8e (1 - 259)

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

ribosome biogenesis protein NSA2 homolog

NSA2, ribosome biogenesis homolog

关联疾病

疾病名称 别名
Hairy Cell Leukemia

Hcl-V

Hairy Cell Leukemia Variant

Hairy Cell Leukaemia Variant

Hcl

Leukemic Reticuloendotheliosis

Leukemic Reticuloendotheliosis Variant

Prolymphocytic Variant Of Hcl

Prolymphocytic Variant Of Hairy Cell Leukemia

Leukemia Hairy Cell

Leukemia, Hairy Cell

Leukaemic Reticuloendotheliosis

Lre - [Leukemic Reticuloendotheliosis]

Hairy-Cell Leukaemia, Nos

Hcl - [Hairy Cell Leukaemia]

Hairy-Cell Leukaemia Without Mention Of Remission

Lateral Ventricle Meningioma

Meningioma Of The Lateral Ventricle

Louping Ill
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome

Ane Syndrome

ANES

Alopecia-Progressive Neurological Defect-Endocrinopathy Syndrome

Alopecia-Progressive Neurological Defect-Endocrinopathy

Endocrine System Diseases

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
Rattus norvegicus NSA2 RGD RGD:621335
Mus musculus NSA2 MGD MGI:1913883
Macaca mulatta NSA2 VGNC VGNC:84455