1. Gene
  2. SUN2 - Sad1 and UNC84 domain containing 2 Gene

SUN2 - Sad1 and UNC84 domain containing 2 Gene

中文名称:含 Sad1 和 UNC84 域 2

种属: Homo sapiens

同用名: UNC84B; rab5IP

基因 ID: 25777 | 基因类型: protein coding

关于 SUN2

Cytogenetic location: 22q13.1 Genomic coordinates (GRCh38): 22:38,734,734-38,755,998 (from NCBI)

This gene has 19 transcripts (splice variants), 217 orthologues and 4 paralogues. Ubiquitous expression in fat (RPKM 47.2), bone marrow (RPKM 33.2) and 25 other tissues.

功能概要

SUN1 (MIM 607723) 和 SUN2 是核内膜 (INM) 蛋白,通过与保守的管腔 KASH 相互作用形成跨核膜的“桥” (称为 LINC 复合体) ,从而在核质连接中发挥重要作用位于外核膜 (ONM) 的 nesprins 结构域 (例如,SYNE1;MIM 608441) 。 LINC 复合体提供核层和细胞骨架之间的直接连接,这有助于核定位和细胞刚性 (Haque 等人总结,2010 [PubMed 19933576]) 。[OMIM 提供,2010 年 11 月]

SUN1 (MIM 607723) and SUN2 are inner nuclear membrane (INM) proteins that play a major role in nuclear-cytoplasmic connection by formation of a 'bridge' across the nuclear envelope, known as the LINC complex, via interaction with the conserved luminal KASH domain of nesprins (e.g., SYNE1; MIM 608441) located in the outer nuclear membrane (ONM). The LINC complex provides a direct connection between the nuclear lamina and the Cytoskeleton, which contributes to nuclear positioning and cellular rigidity (summary by Haque et al., 2010 [PubMed 19933576]).[supplied by OMIM, Nov 2010]

SUN2 基因产物(22)

mRNA Protein Name
NM_001199579.2 NP_001186508.1 SUN domain-containing protein 2 isoform 1
NM_001199580.2 NP_001186509.1 SUN domain-containing protein 2 isoform 2
NM_001394427.1 NP_001381356.1 SUN domain-containing protein 2 isoform 3
NM_001394428.1 NP_001381357.1 SUN domain-containing protein 2 isoform 1
NM_001394429.1 NP_001381358.1 SUN domain-containing protein 2 isoform 4
NM_001394430.1 NP_001381359.1 SUN domain-containing protein 2 isoform 4
NM_001394431.1 NP_001381360.1 SUN domain-containing protein 2 isoform 5
NM_001394432.1 NP_001381361.1 SUN domain-containing protein 2 isoform 2
NM_001394433.1 NP_001381362.1 SUN domain-containing protein 2 isoform 2
NM_001394434.1 NP_001381363.1 SUN domain-containing protein 2 isoform 2
NM_001394435.1 NP_001381364.1 SUN domain-containing protein 2 isoform 2
NM_001394436.1 NP_001381365.1 SUN domain-containing protein 2 isoform 6
NM_001394437.1 NP_001381366.1 SUN domain-containing protein 2 isoform 6
NM_001394438.1 NP_001381367.1 SUN domain-containing protein 2 isoform 7
NM_001394439.1 NP_001381368.1 SUN domain-containing protein 2 isoform 8
NM_001394440.1 NP_001381369.1 SUN domain-containing protein 2 isoform 8
NM_001394441.1 NP_001381370.1 SUN domain-containing protein 2 isoform 8
NM_001394442.1 NP_001381371.1 SUN domain-containing protein 2 isoform 9
NM_001394443.1 NP_001381372.1 SUN domain-containing protein 2 isoform 10
NM_001394444.1 NP_001381373.1 SUN domain-containing protein 2 isoform 11
NM_001394445.1 NP_001381374.1 SUN domain-containing protein 2 isoform 11
NM_015374.3 NP_056189.1 SUN domain-containing protein 2 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 cytoskeleton-nuclear membrane anchor activity IDA
IDA: 通过直接分析推断
18396275 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
22632968 GOA
enables lamin binding IDA
IDA: 通过直接分析推断
19933576 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18396275 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in nuclear matrix anchoring at nuclear membrane IDA
IDA: 通过直接分析推断
19933576 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of meiotic nuclear membrane microtubule tethering complex IDA
IDA: 通过直接分析推断
18396275 GOA
colocalizes with nuclear envelope IDA
IDA: 通过直接分析推断
21610090 GOA
located in nuclear envelope IDA
IDA: 通过直接分析推断
16380439 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

SUN2 蛋白结构

Sad1_UNC

Sad1_UNC: Sad1 / UNC-like C-terminal (582 - 714)

  • 0
  • 200
  • 400
  • 600
  • 717 a.a.
蛋白主名 其他名称

SUN domain-containing protein 2

Sad1 unc-84 domain protein 2

SUN2 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 SUN2 Q9UH99 NRM Homo sapiens Q8IXM6
Y2H Prey Pooling
25416956
Intra SUN2 Q9UH99 RAB5A Homo sapiens P20339
Anti Tag CoIP
33961781
Intra SUN2 Q9UH99 RAB5A Homo sapiens P20339
Anti Tag CoIP
28514442
Intra SUN2 Q9UH99 SYNE1 Homo sapiens Q8NF91
Pull Down
22632968
Intra SUN2 Q9UH99 SYNE2 Homo sapiens Q8WXH0
GMS
33058875
Intra SUN2 Q9UH99 SYNE2 Homo sapiens Q8WXH0
Pull Down
22555292
Intra SUN2 Q9UH99 SYNE1 Homo sapiens Q8NF91
GMS
33058875
Intra SUN2 Q9UH99 SYNE2 Homo sapiens Q8WXH0
Pull Down
30833792
Intra SUN2 Q9UH99 SYNE1 Homo sapiens Q8NF91
GMS
33393904
Intra SUN2 Q9UH99 RAB5A Homo sapiens P20339
Y2H
21988832
Intra SUN2 Q9UH99 SYNE3 Homo sapiens Q6ZMZ3
X-Ray Diffraction
33058875
Intra SUN2 Q9UH99 SYNE3 Homo sapiens Q6ZMZ3
GMS
33058875
Cross SUN2 Q9UH99 ap3a_sars2 SARS-CoV-2 P0DTC3
Y2H Array
36217030
Intra SUN2 Q9UH99 KPNA2 Homo sapiens P52292
Pull Down
20551905
Intra SUN2 Q9UH99 LMNA Homo sapiens P02545
Pull Down
22555292
Intra SUN2 Q9UH99 LMNA Homo sapiens P02545
Anti Tag CoIP
33961781
Intra SUN2 Q9UH99 COPB1 Homo sapiens P53618
Pull Down
22555292
Intra SUN2 Q9UH99 COPB1 Homo sapiens P53618
Pull Down
20551905
Intra SUN2 Q9UH99 EMD Homo sapiens P50402
Pull Down
30833792
Intra SUN2 Q9UH99 EMD Homo sapiens P50402
Pull Down
19933576
Intra SUN2 Q9UH99 SYNE4 Homo sapiens Q8N205
GMS
33393904
Intra SUN2 Q9UH99 SYNE4 Homo sapiens Q8N205
X-Ray Diffraction
33058875
Intra SUN2 Q9UH99 SYNE4 Homo sapiens Q8N205
GMS
33058875
Intra SUN2 Q9UH99 KASH5 Homo sapiens Q8N6L0
GMS
33058875
Intra SUN2 Q9UH99 KASH5 Homo sapiens Q8N6L0
X-Ray Diffraction
33058875
Intra SUN2 Q9UH99 KASH5 Homo sapiens Q8N6L0
GMS
33393904
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
Emery-Dreifuss Muscular Dystrophy

Edmd

Emery-Dreifuss Syndrome

Muscular Dystrophy, Emery-Dreifuss

Humeroperoneal Neuromuscular Disease

Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures

Scapuloperoneal Syndrome, X-Linked

Benign Scapuloperoneal Muscular Dystrophy With Early Contractures

Muscular Dystrophy, Emery-Dreifuss Type

Muscular Dystrophy Emery-Dreifuss

Dystrophy, Muscular, Emery-Dreifuss

Emd - [Emery-Dreifuss Muscular Dystrophy]

Chronic Fatigue Syndrome

Myalgic Encephalomyelitis

Postviral Fatigue Syndrome

Cfs

Myalgic Encephalitis

Encephalomyelitis, Myalgic

Chronic Fatigue

Fatigue Syndrome, Chronic

Benign Myalgic Encephalomyelitis

Akureyri

Akureyri Disease

Cfs - [Chronic Fatigue Syndrome]

Epidemic Neuromyasthenia

Myalgic Encephalomyelitis Syndrome

Me - [Myalgic Encephalomyelitis]

Pvfs - [Postviral Fatigue Syndrome]

Neuromyasthenia

Iceland Disease

Icelandic Disease

Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

EDMD7

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 7

Emery-Dreifuss Muscular Dystrophy 7, Ad

Emd7

Dystrophy, Muscular, Emery-Dreifuss, Type 7, Autosomal Dominant

Reynolds Syndrome

Primary Biliary Cirrhosis, Scleroderma, Raynaud Disease, And Telangiectasia

Primary Biliary Cirrhosis And Systemic Scleroderma

REYNS

Primary Biliary Cirrhosis Scleroderma Raynaud Disease And Telangiectasia

Emery-Dreifuss Muscular Dystrophy 1, X-Linked

EDMD1

Emd1

Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures

X-Linked Emery-Dreifuss Muscular Dystrophy 1

Humeroperoneal Neuromuscular Disease

X-Linked Emery-Dreifuss Muscular Dystrophy

Scapuloperoneal Syndrome, X-Linked, Formerly

Humeroperoneal Neuromuscular Disease, Formerly

Scapuloperoneal Syndrome, X-Linked

Muscular Dystrophy Tardive Dreifuss-Emery Type With Contractures

Scapuloperoneal Syndrome X-Linked

X-Edmd

Dystrophy, Muscular, Emery-Dreifuss, Type 1, X-Linked

Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

EDMD5

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 5

Emd5

Dystrophy, Muscular, Emery-Dreifuss, Type 5, Autosomal Dominant

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

EDMD2

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

Emd2

Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant

Scapuloilioperoneal Atrophy With Cardiopathy

Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant

Hauptmann-Thannhauser Muscular Dystrophy

Cardiomyopathy, Dilated, With Quadriceps Myopathy

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2

Muscular Dystrophy, Limb-Girdle, Type 1b

Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly

Lgmd1b, Formerly

Muscular Dystrophy, Proximal, Type 1b, Formerly

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b

Lgmd1b

Limb-Girdle Muscular Dystrophy 1b

Muscular Dystrophy, Proximal, Type 1b

Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant

Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

EDMD3

Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 3

Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

Emery-Dreifuss Muscular Dystrophy Atypical Autosomal Recessive

Dystrophy, Muscular, Emery-Dreifuss, Type 3, Autosomal Recessive

Emery-Dreifuss Muscular Dystrophy 3

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Muscular Dystrophy, Congenital, Lmna-Related

Congenital Muscular Dystrophy

Congenital Muscular Dystrophy Due To Lmna Mutation

MDCL

L-Cmd

Lmna-Related Congenital Muscular Dystrophy

Muscular Dystrophy, Congenital

Congenital Muscular Dystrophy Lmna-Related

Lmna-Related Cmd

Cmd

Mdc

Muscular Dystrophy Congenital Lmna-Related

Dystrophy, Muscular, Congenital, Lmna-Related

Dystrophy, Muscular, Congenital

Hereditary Muscular Dystrophy

Congenital Hereditary Muscular Dystrophy

Congenital Progressive Muscular Dystrophy

Hereditary Progressive Muscular Dystrophy

Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

EDMD4

Emery-Dreifuss Muscular Dystrophy 4 With Variable Features

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4

Emd4

Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant

Emery-Dreifuss Muscular Dystrophy 4

Limb-Girdle Muscular Dystrophy

Lgmd

Limb Girdle Muscular Dystrophy

Muscular Dystrophies, Limb-Girdle

Erb'S Muscular Dystrophy

Leyden-Mbius Muscular Dystrophy

Limb-Girdle Syndrome

Myopathic Limb-Girdle Syndrome

Limb Girdle

Muscular Dystrophy Limb-Girdle

Dystrophy, Muscular, Limb-Girdle

Lgmd - [Limb-Girdle Muscular Dystrophy]

Limb Girdle Muscle Dystrophy

Limb-Girdle Myopathy

Myopathy, X-Linked, With Postural Muscle Atrophy

Emery-Dreifuss Muscular Dystrophy 6, X-Linked

XMPMA

X-Linked Myopathy With Postural Muscle Atrophy

X-Linked Emery-Dreifuss Muscular Dystrophy 6

EDMD6

Emd6

Charcot-Marie-Tooth Disease, Axonal, Type 2b1

Charcot-Marie-Tooth Disease Type 2b1

Charcot-Marie-Tooth Disease, Type 2b1

CMT2B1

Autosomal Recessive Axonal Cmt4c1

Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b1

Charcot-Marie-Tooth Disease Neuronal Type 2b1

Charcot-Marie-Tooth Neuropathy Type 2b1

Charcot-Marie-Tooth Disease, Neuronal, Type 2b1

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b1

Charcot-Marie-Tooth Neuropathy, Type 2b1

Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b1

Ar-Cmt2b1

Charcot-Marie-Tooth Disease 2b1

Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B1

Charcot-Marie-Tooth Disease Axonal Type 2b1

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Greenberg Dysplasia

Hem Dysplasia

Greenberg Skeletal Dysplasia

Hem Skeletal Dysplasia

GRBGD

Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia

Moth-Eaten Skeletal Dysplasia

Chondrodystrophy, Hydropic And Prenatally Lethal Type

Hydrops-Ectopic Calcification-Motheaten Syndrome

Skeletal Dysplasia, Greenberg Type

Autosomal Recessive Lethal Chondrodystrophy With Congenital Hydrops

Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

Hem

Hem/Greenberg Dysplasia

Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia

Pelger-Huet Anomaly

PHA

Pelger-Huët Anomaly

Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy And Skeletal Abnormalities

Pelger Huet Anomaly

Pelger-Huet Nuclear Anomaly

Cardiomyopathy, Dilated, 1h

Dilated Cardiomyopathy 1h

Dilated Cardiomyopathy With Conduction Defect

CMD1H

Cardiomyopathy, Dilated, With Conduction Defect

Hutchinson-Gilford Progeria Syndrome

Progeria

HGPS

Hutchinson-Gilford Syndrome

Hutchinson-Gilford Progeria

Hutchinson Gilford Syndrome

Hutchinson Gilford Progeria Syndrome

Hutchinson-Gilford Disease

Progeria Of Childhood

Hutchinson-Gilford-Progeria Syndrome

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Myopathy

Muscular Diseases

Myopathies

Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

Primary Biliary Cholangitis

Primary Biliary Cirrhosis

Biliary Liver Cirrhosis

Chronic Nonsuppurative Destructive Cholangitis

Familial Primary Biliary Cirrhosis

Pbc

Hanot Syndrome

Cholestatic Cirrhosis

Biliary Cirrhosis Primary

Liver Cirrhosis, Biliary

Hanot'S Cirrhosis

Biliary Cirrhosis

Pericholangiolic Biliary Cirrhosis

Tannhauser-Magendantz Syndrome

Hanot-Rossle Syndrome

Hypertrophic Cirrhosis

Todd Cirrhosis

Hanot Cirrhosis

Charcot Cirrhosis

Mahon-Tannhauser Syndrome

Toxic Cirrhosis

Hypertrophic Biliary Cirrhosis

Monolobular Cirrhosis

Unilobar Cirrhosis

Xanthomatous Biliary Cirrhosis

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 SUN2 VGNC VGNC:65842
Canis familiaris SUN2 VGNC VGNC:46985
Bos taurus SUN2 VGNC VGNC:35474
Macaca mulatta SUN2 VGNC VGNC:78113
Mus musculus SUN2 MGD MGI:2443011
Rattus norvegicus SUN2 RGD RGD:1563141