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  2. SNRPD2 - small nuclear ribonucleoprotein D2 polypeptide Gene

SNRPD2 - small nuclear ribonucleoprotein D2 polypeptide Gene

中文名称:小核核糖核蛋白 D2 多肽

种属: Homo sapiens

同用名: SMD2; Sm-D2; SNRPD1

基因 ID: 6633 | 基因类型: protein coding

关于 SNRPD2

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:45,687,454-45,692,316 (from NCBI)

This gene has 8 transcripts (splice variants) and 263 orthologues. Ubiquitous expression in ovary (RPKM 85.9), lymph node (RPKM 73.9) and 25 other tissues.

功能概要

该基因编码的蛋白质属于小核核糖核蛋白核心蛋白家族。它是 pre-mRNA 剪接和小核核糖核蛋白生物合成所必需的。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2009 年 5 月]

The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

SNRPD2 基因产物(5)

mRNA Protein Name
NM_001369751.1 NP_001356680.1 small nuclear ribonucleoprotein Sm D2 isoform 2
NM_001369752.1 NP_001356681.1 small nuclear ribonucleoprotein Sm D2 isoform 3
NM_001384647.1 NP_001371576.1 small nuclear ribonucleoprotein Sm D2 isoform 1
NM_004597.6 NP_004588.1 small nuclear ribonucleoprotein Sm D2 isoform 1
NM_177542.3 NP_808210.2 small nuclear ribonucleoprotein Sm D2 isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
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
9417867 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mRNA splicing, via spliceosome IDA
IDA: 通过直接分析推断
28076346 GOA
involved in spliceosomal snRNP assembly IDA
IDA: 通过直接分析推断
18984161 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of SMN-Sm protein complex IDA
IDA: 通过直接分析推断
18984161 GOA
part of U1 snRNP IDA
IDA: 通过直接分析推断
21113136 GOA
part of U1 snRNP IPI
IPI: 通过物理相互作用推断
33677607 GOA
part of U12-type spliceosomal complex IDA
IDA: 通过直接分析推断
15146077 GOA
part of U2-type catalytic step 2 spliceosome IDA
IDA: 通过直接分析推断
28076346 GOA
part of U2-type precatalytic spliceosome IDA
IDA: 通过直接分析推断
28781166 GOA
part of U2-type spliceosomal complex IDA
IDA: 通过直接分析推断
32494006 GOA
part of U4 snRNP IDA
IDA: 通过直接分析推断
21516107 GOA
part of U4/U6 x U5 tri-snRNP complex IDA
IDA: 通过直接分析推断
26912367 GOA
part of U4/U6 x U5 tri-snRNP complex IPI
IPI: 通过物理相互作用推断
30975767 GOA
part of catalytic step 2 spliceosome IDA
IDA: 通过直接分析推断
11991638 GOA
located in cytosol IDA
IDA: 通过直接分析推断
18984161 GOA
part of methylosome IDA
IDA: 通过直接分析推断
18984161 GOA
located in nucleus IDA
IDA: 通过直接分析推断
28076346 GOA
part of pICln-Sm protein complex IDA
IDA: 通过直接分析推断
18984161 GOA
part of spliceosomal complex IPI
IPI: 通过物理相互作用推断
33677607 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

SNRPD2 蛋白结构

LSM

LSM: LSM domain (37 - 109)

  • 0
  • 100
  • 118 a.a.
蛋白主名 其他名称

small nuclear ribonucleoprotein Sm D2

small nuclear ribonucleoprotein D2 polypeptide 16.5kDa

SNRPD2 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 SNRPD2 P62316 SPANXN2 Homo sapiens Q5MJ10
Validated Y2H
32296183
Intra SNRPD2 P62316 LSM2 Homo sapiens Q9Y333
Anti Tag CoIP
35271311
Intra SNRPD2 P62316 SNRPF Homo sapiens P62306
Y2H Array
32296183
Intra SNRPD2 P62316 SNRPF Homo sapiens P62306
Anti Tag CoIP
35271311
Intra SNRPD2 P62316 SNRPF Homo sapiens P62306
Y2H Prey Pooling
32296183
Intra SNRPD2 P62316 SNRPD1 Homo sapiens P62314
Crosslink
30021884
Intra SNRPD2 P62316 SNRPD1 Homo sapiens P62314
Y2H
9417867
Intra SNRPD2 P62316 SNRPD1 Homo sapiens P62314
Anti Tag CoIP
35271311
Intra SNRPD2 P62316 LSM6 Homo sapiens P62312
Anti Tag CoIP
35271311
Intra SNRPD2 P62316 LSM6 Homo sapiens P62312
Y2H
22365833
Intra SNRPD2 P62316 CLNS1A Homo sapiens P54105
Y2H Prey Pooling
25416956
Intra SNRPD2 P62316 CLNS1A Homo sapiens P54105
Y2H Prey Pooling
32296183
Intra SNRPD2 P62316 CLNS1A Homo sapiens P54105
Y2H Array
32296183
Intra SNRPD2 P62316 CLNS1A Homo sapiens P54105
Anti Tag CoIP
35271311
Intra SNRPD2 P62316 CLNS1A Homo sapiens P54105
Y2H
22365833
Intra SNRPD2 P62316 STRAP Homo sapiens Q9Y3F4
Anti Tag CoIP
35271311
Intra SNRPD2 P62316 STRAP Homo sapiens Q9Y3F4
Pull Down
15848170
Intra SNRPD2 P62316 CINP Homo sapiens Q9BW66
Validated Y2H
32296183
Intra SNRPD2 P62316 GEMIN6 Homo sapiens Q8WXD5
Anti Tag CoIP
35271311
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
Noonan Syndrome 2

NS2

Noonan Syndrome, Autosomal Recessive

Noonan Syndrome 2, Autosomal Recessive

Noonan Syndrome, Type 2

Spinal Muscular Atrophy

Sma

5q Sma

Proximal Sma

Sma-Associated Sma

Spinal Amyotrophies

Spinal Amyotrophy

Spinal Muscle Degeneration

Spinal Muscle Wasting

Muscular Atrophy Spinal

Atrophy, Muscular, Spinal

Hereditary Motor Neuronopathy

Progressive Muscular Atrophy

Sma - [Spinal Muscular Atrophy]

Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

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 SNRPD2 VGNC VGNC:35079
Mus musculus SNRPD2 MGD MGI:98345
Canis familiaris SNRPD2 VGNC VGNC:53987
Rattus norvegicus SNRPD2 RGD RGD:1593018