Details for: SYNE2

Gene ID: 23224

Symbol: SYNE2

Ensembl ID: ENSG00000054654

Description: spectrin repeat containing nuclear envelope protein 2

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 6.6
    Marker Score: 5,416
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 5.31
    Marker Score: 17,800
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 4.61
    Marker Score: 19,224
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 4.3
    Marker Score: 4,100
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 4.17
    Marker Score: 3,700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 4.15
    Marker Score: 4,703
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 3.95
    Marker Score: 20,729
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 3.7
    Marker Score: 32,462
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 3.62
    Marker Score: 2,901
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 3.51
    Marker Score: 3,030
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 3.48
    Marker Score: 6,693
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 3.33
    Marker Score: 959
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 3.31
    Marker Score: 10,455
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 3.28
    Marker Score: 2,470
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 3.28
    Marker Score: 2,278
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 3.28
    Marker Score: 1,576
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 3.22
    Marker Score: 4,672
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 3.19
    Marker Score: 10,959
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 3.17
    Marker Score: 2,445
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 3.12
    Marker Score: 4,386
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 3.11
    Marker Score: 2,077
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 3.08
    Marker Score: 1,623
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 3.05
    Marker Score: 10,829
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 3.02
    Marker Score: 1,692
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 2.99
    Marker Score: 873
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 2.96
    Marker Score: 2,999
  • Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
    Fold Change: 2.89
    Marker Score: 4,257
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 2.87
    Marker Score: 6,296
  • Cell Name: CD4-positive, alpha-beta cytotoxic T cell (CL0000934)
    Fold Change: 2.87
    Marker Score: 2,518
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 2.84
    Marker Score: 1,223
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 2.8
    Marker Score: 7,517
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 2.79
    Marker Score: 3,854
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 2.77
    Marker Score: 2,916
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 2.74
    Marker Score: 2,951
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 2.73
    Marker Score: 1,191
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 2.69
    Marker Score: 7,668
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 2.66
    Marker Score: 1,586
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 2.64
    Marker Score: 22,921
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 2.61
    Marker Score: 3,006
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    Fold Change: 2.6
    Marker Score: 1,602
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 2.6
    Marker Score: 944
  • Cell Name: basal cell (CL0000646)
    Fold Change: 2.55
    Marker Score: 3,289
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 2.54
    Marker Score: 10,632
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 2.53
    Marker Score: 1,473
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 2.52
    Marker Score: 1,465
  • Cell Name: granule cell (CL0000120)
    Fold Change: 2.51
    Marker Score: 18,917
  • Cell Name: centroblast (CL0009112)
    Fold Change: 2.49
    Marker Score: 1,225
  • Cell Name: podocyte (CL0000653)
    Fold Change: 2.49
    Marker Score: 919
  • Cell Name: memory regulatory T cell (CL0002678)
    Fold Change: 2.45
    Marker Score: 856
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 2.42
    Marker Score: 6,106
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 2.4
    Marker Score: 23,769
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 2.39
    Marker Score: 713
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 2.36
    Marker Score: 17,585
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 2.36
    Marker Score: 1,279
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 2.33
    Marker Score: 1,660
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 2.31
    Marker Score: 6,867
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 2.3
    Marker Score: 1,192
  • Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
    Fold Change: 2.3
    Marker Score: 5,616
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 2.28
    Marker Score: 2,844
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 2.27
    Marker Score: 2,505
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 2.27
    Marker Score: 979
  • Cell Name: effector CD4-positive, alpha-beta T cell (CL0001044)
    Fold Change: 2.24
    Marker Score: 2,094
  • Cell Name: mucosal invariant T cell (CL0000940)
    Fold Change: 2.22
    Marker Score: 1,974
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 2.21
    Marker Score: 828
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 2.2
    Marker Score: 76,061
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 2.17
    Marker Score: 3,840
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 2.16
    Marker Score: 907
  • Cell Name: peritubular capillary endothelial cell (CL1001033)
    Fold Change: 2.14
    Marker Score: 497
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 2.13
    Marker Score: 12,637
  • Cell Name: DN1 thymic pro-T cell (CL0000894)
    Fold Change: 2.13
    Marker Score: 659
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 2.11
    Marker Score: 5,929
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 2.09
    Marker Score: 33,584
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 2.09
    Marker Score: 1,873
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 2.08
    Marker Score: 4,786
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 2.08
    Marker Score: 708
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 2.08
    Marker Score: 109,871
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 2.07
    Marker Score: 1,019
  • Cell Name: Unknown (CL0000548)
    Fold Change: 2.06
    Marker Score: 1,499
  • Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
    Fold Change: 2.05
    Marker Score: 2,970
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 2.04
    Marker Score: 2,887
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 2
    Marker Score: 8,582
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 1.98
    Marker Score: 941
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 1.97
    Marker Score: 899
  • Cell Name: central memory CD4-positive, alpha-beta T cell (CL0000904)
    Fold Change: 1.95
    Marker Score: 2,106
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.94
    Marker Score: 2,016
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 1.94
    Marker Score: 3,687
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 1.94
    Marker Score: 1,189
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.93
    Marker Score: 43,139
  • Cell Name: double negative T regulatory cell (CL0011024)
    Fold Change: 1.91
    Marker Score: 1,847
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.91
    Marker Score: 5,198
  • Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
    Fold Change: 1.9
    Marker Score: 5,560
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.9
    Marker Score: 7,480
  • Cell Name: type I NK T cell (CL0000921)
    Fold Change: 1.88
    Marker Score: 1,473
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: 1.87
    Marker Score: 1,688
  • Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
    Fold Change: 1.86
    Marker Score: 1,569
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.86
    Marker Score: 583
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.86
    Marker Score: 868
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 1.85
    Marker Score: 3,705
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 1.85
    Marker Score: 2,311
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.85
    Marker Score: 535

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Dimeric structure**: SYNE2 is a heterodimeric protein composed of two subunits, NUP160 and NUP133, which interact through a KASH (Karyopherin-Associated-Scaffold-Homology) domain. 2. **Nuclear envelope anchorage**: SYNE2 is anchored to the nuclear envelope via its KASH domain, which also interacts with the nuclear lamina. 3. **Actin-binding capacity**: SYNE2 contains spectrin repeats, which allow it to bind to actin filaments, thereby linking the nuclear envelope to the cytoskeleton. 4. **Regulatory functions**: SYNE2 is involved in regulating cell migration, meiosis, and cytokinesis, highlighting its importance in various cellular processes. **Pathways and Functions** 1. **Cell migration**: SYNE2 plays a crucial role in regulating cell migration, particularly in the context of radial glia-guided migration in the cerebral cortex. 2. **Meiosis**: SYNE2 is involved in the regulation of meiotic synapsis, a critical step in meiosis that ensures proper chromosome pairing and segregation. 3. **Cytokinesis**: SYNE2 interacts with actin filaments to regulate cytokinesis, the process by which a cell divides into two daughter cells. 4. **Nuclear envelope organization**: SYNE2 maintains the structural integrity of the nuclear envelope, ensuring proper nuclear shape and function. 5. **Regulation of the nuclear pore complex**: SYNE2 interacts with the nuclear pore complex, regulating the transport of molecules in and out of the nucleus. **Clinical Significance** 1. **Cerebral cortex development**: Abnormalities in SYNE2 expression have been linked to developmental disorders, such as lissencephaly and cerebral cortical dysplasia. 2. **Cancer**: Mutations in SYNE2 have been identified in certain types of cancer, including breast and ovarian cancer. 3. **Neurological disorders**: SYNE2 has been implicated in various neurological disorders, including Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis (ALS). 4. **Reproductive disorders**: SYNE2 is involved in meiosis, and abnormalities in its expression have been linked to reproductive disorders, such as infertility and miscarriage. In conclusion, the SYNE2 gene plays a critical role in maintaining the structural integrity and organization of the nuclear envelope, as well as regulating various cellular processes, including cell migration, meiosis, and cytokinesis. Its dysregulation has been implicated in various diseases, highlighting its importance as a potential therapeutic target.

Genular Protein ID: 2860572539

Symbol: SYNE2_HUMAN

Name: KASH domain-containing protein 2

UniProtKB Accession Codes:

Q8WXH0 B4DND7 B4DPR6 I6XXQ5 Q540G1 Q86YP9 Q8N1S3 Q8NF49 Q8TER7 Q8WWW3 Q8WWW4 Q8WWW5 Q8WXH1 Q9NU50 Q9UFQ4 Q9Y2L4 Q9Y4R1

Database IDs:

AGR 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 3 CORUM 1 CarbonylDB 1 ChiTaRS 1 ComplexPortal 2 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 ELM 1 EMBL 24 EPD 1 Ensembl 5 ExpressionAtlas 1 GO 25 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 3 PIR 2 PRO 1 PROSITE 4 PROSITE-ProRule 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 10 Pumba 1 RNAct 1 Reactome 1 RefSeq 4 SAM 1 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 2 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 12118075

Title: NUANCE, a giant protein connecting the nucleus and actin cytoskeleton.

PubMed ID: 12118075

DOI: 10.1242/jcs.115.15.3207

PubMed ID: 11792814

Title: Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissues.

PubMed ID: 11792814

DOI: 10.1242/jcs.114.24.4485

PubMed ID: 12408964

Title: The nesprins are giant actin-binding proteins, orthologous to Drosophila melanogaster muscle protein MSP-300.

PubMed ID: 12408964

DOI: 10.1016/s0888-7543(02)96859-x

PubMed ID: 22768332

Title: Multiple novel nesprin-1 and nesprin-2 variants act as versatile tissue-specific intracellular scaffolds.

PubMed ID: 22768332

DOI: 10.1371/journal.pone.0040098

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12508121

Title: The DNA sequence and analysis of human chromosome 14.

PubMed ID: 12508121

DOI: 10.1038/nature01348

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10231032

Title: Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

PubMed ID: 10231032

DOI: 10.1093/dnares/6.1.63

PubMed ID: 12168954

Title: Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.

PubMed ID: 12168954

DOI: 10.1093/dnares/9.3.99

PubMed ID: 11230166

Title: Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.

PubMed ID: 11230166

DOI: 10.1101/gr.gr1547r

PubMed ID: 12958361

Title: Nuclear membrane proteins with potential disease links found by subtractive proteomics.

PubMed ID: 12958361

DOI: 10.1126/science.1088176

PubMed ID: 15671068

Title: Nesprin-2 is a multi-isomeric protein that binds lamin and emerin at the nuclear envelope and forms a subcellular network in skeletal muscle.

PubMed ID: 15671068

DOI: 10.1242/jcs.01642

PubMed ID: 18396275

Title: Structural requirements for the assembly of LINC complexes and their function in cellular mechanical stiffness.

PubMed ID: 18396275

DOI: 10.1016/j.yexcr.2008.02.022

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19596800

Title: Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton.

PubMed ID: 19596800

DOI: 10.1242/jcs.043794

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 19933576

Title: Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes.

PubMed ID: 19933576

DOI: 10.1074/jbc.m109.071910

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 20724637

Title: Linear arrays of nuclear envelope proteins harness retrograde actin flow for nuclear movement.

PubMed ID: 20724637

DOI: 10.1126/science.1189072

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 23671687

Title: Large-scale modelling of the divergent spectrin repeats in nesprins: giant modular proteins.

PubMed ID: 23671687

DOI: 10.1371/journal.pone.0063633

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 24718612

Title: Nesprins: tissue-specific expression of epsilon and other short isoforms.

PubMed ID: 24718612

DOI: 10.1371/journal.pone.0094380

PubMed ID: 26244732

Title: A disulfide bond is required for the transmission of forces through SUN-KASH complexes.

PubMed ID: 26244732

DOI: 10.1016/j.bpj.2015.06.057

PubMed ID: 28716842

Title: Outer nuclear membrane protein Kuduk modulates the LINC complex and nuclear envelope architecture.

PubMed ID: 28716842

DOI: 10.1083/jcb.201606043

PubMed ID: 34818527

Title: The ESCRT machinery counteracts Nesprin-2G-mediated mechanical forces during nuclear envelope repair.

PubMed ID: 34818527

DOI: 10.1016/j.devcel.2021.10.022

PubMed ID: 22632968

Title: LINC complexes form by binding of three KASH peptides to domain interfaces of trimeric SUN proteins.

PubMed ID: 22632968

DOI: 10.1016/j.cell.2012.03.046

PubMed ID: 22945352

Title: Structural insights into SUN-KASH complexes across the nuclear envelope.

PubMed ID: 22945352

DOI: 10.1038/cr.2012.126

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 17761684

Title: Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.

PubMed ID: 17761684

DOI: 10.1093/hmg/ddm238

Sequence Information:

  • Length: 6885
  • Mass: 796442
  • Checksum: 3D37E27B080ADBD8
  • Sequence:
    • MASSPELPTE DEQGSWGIDD LHISLQAEQE DTQKKAFTCW INSQLARHTS PSVISDLFTD 
IKKGHVLLDL LEVLSGQQLP RDKGSNTFQC RINIEHALTF LRNRSIKLIN IHVTDIIDGN 
PSIILGLIWT IILHFHIEKL AQTLSCNYNQ PSLDDVSVVD SSPASSPPAK KCSKVQARWQ 
MSARKALLLW AQEQCATYES VNVTDFKSSW RNGMAFLAII HALRPDLIDM KSVKHRSNKD 
NLREAFRIAE QELKIPRLLE PEDVDVVDPD EKSIMTYVAQ FLQYSKDAPG TGEEAQGKVK 
DAMGWLTLQK EKLQKLLKDS ENDTYFKKYN SLLSFMESFN EEKKSFLDVL SIKRDLDELD 
KDHLQLREAW DGLDHQINAW KIKLNYALPP PLHQTEAWLQ EVEELMDEDL SASQDHSQAV 
TLIQEKMTLF KSLMDRFEHH SNILLTFENK DENHLPLVPP NKLEEMKRRI NNILEKKFIL 
LLEFHYYKCL VLGLVDEVKS KLDIWNIKYG SRESVELLLE DWHKFIEEKE FLARLDTSFQ 
KCGEIYKNLA GECQNINKQY MMVKSDVCMY RKNIYNVKST LQKVLACWAT YVENLRLLRA 
CFEETKKEEI KEVPFETLAQ WNLEHATLNE AGNFLVEVSN DVVGSSISKE LRRLNKRWRK 
LVSKTQLEMN LPLMIKKQDQ PTFDNSGNIL SKEEKATVEF STDMSVELPE NYNQNIKAGE 
KHEKENEEFT GQLKVAKDVE KLIGQVEIWE AEAKSVLDQD DVDTSMEESL KHLIAKGSMF 
DELMARSEDM LQMDIQNISS QESFQHVLTT GLQAKIQEAK EKVQINVVKL IAALKNLTDV 
SPDLDIRLKM EESQKELESY MMRAQQLLGQ RESPGELISK HKEALIISNT KSLAKYLKAV 
EELKNNVTED IKMSLEEKSR DVCAKWESLH HELSLYVQQL KIDIEKGKLS DNILKLEKQI 
NKEKKLIRRG RTKGLIKEHE ACFSEEGCLY QLNHHMEVLR ELCEELPSQK SQQEVKRLLK 
DYEQKIERLL KCASEIHMTL QPTAGGTSKN EGTITTSENR GGDPHSEAPF AKSDNQPSTE 
KAMEPTMKFS LASVLRPLQE ESIMEKDYSA SINSLLERYD TYRDILEHHL QNNKFRITSD 
FSSEEDRSSS CLQAKLTDLQ VIKNETDARW KEFEIISLKL ENHVNDIKKP FVIKERDTLK 
ERERELQMTL NTRMESLETA LRLVLPVEKA SLLLCGSDLP LHKMAIQGFH LIDADRIYQH 
LRNIQDSIAK QIEICNRLEE PGNFVLKELH PFDLHAMQNI ILKYKTQFEG MNHRVQRSED 
TLKALEDFLA SLRTAKLSAE PVTDLSASDT QVAQENTLTV KNKEGEIHLM KDKAKHLDKC 
LKMLDMSFKD AERGDDTSCE NLLDAFSIKL SETHGYGVQE EFTEENKLLE ACIFKNNELL 
KNIQDVQSQI SKIGLKDPTV PAVKHRKKSL IRLDKVLDEY EEEKRHLQEM ANSLPHFKDG 
REKTVNQQCQ NTVVLWENTK ALVTECLEQC GRVLELLKQY QNFKSILTTL IQKEESVISL 
QASYMGKENL KKRIAEIEIV KEEFNEHLEV VDKINQVCKN LQFYLNKMKT FEEPPFEKEA 
NIIVDRWLDI NEKTEDYYEN LGRALALWDK LFNLKNVIDE WTEKALQKME LHQLTEEDRE 
RLKEELQVHE QKTSEFSRRV AEIQFLLQSS EIPLELQVME SSILNKMEHV QKCLTGESNC 
HALSGSTAEL REDLDQAKTQ IGMTESLLKA LSPSDSLEIF TKLEEIQQQI LQQKHSMILL 
ENQIGCLTPE LSELKKQYES VSDLFNTKKS VLQDHFSKLL NDQCKNFNDW FSNIKVNLKE 
CFESSETKKS VEQKLQKLSD FLTLEGRNSK IKQVDSVLKH VKKHLPKAHV KELISWLVGQ 
EFELEKMESI CQARAKELED SLQQLLRLQD DHRNLRKWLT NQEEKWKGME EPGEKTELFC 
QALARKREQF ESVAQLNNSL KEYGFTEEEE IIMEATCLMD RYQTLLRQLS EIEEEDKLLP 
TEDQSFNDLA HDVIHWIKEI KESLMVLNSS EGKMPLEERI QKIKEIILLK PEGDARIETI 
MKQAESSEAP LVQKTLTDIS NQWDNTLHLA STYLSHQEKL LLEGEKYLQS KEDLRLMLIE 
LKKKQEAGFA LQHGLQEKKA QLKIYKKFLK KAQDLTSLLK ELKSQGNYLL ECTKNPSFSE 
EPWLEIKHLH ESLLQQLQDS VQNLDGHVRE HDSYQVCVTD LNTTLDNFSK EFVSFSDKPV 
DQIAVEEKLQ KLQELENRLS LQDGTLKKIL ALAKSVKQNT SSVGQKIIKD DIKSLQCKQK 
DLENRLASAK QEMECCLNSI LKSKRSTEKK GKFTLPGREK QATSDVQEST QESAAVEKLE 
EDWEINKDSA VEMAMSKQLS LNAQESMKNT EDERKVNELQ NQPLELDTML RNEQLEEIEK 
LYTQLEAKKA AIKPLEQTEC LNKTETGALV LHNIGYSAQH LDNLLQALIT LKKNKESQYC 
VLRDFQEYLA AVESSMKALL TDKESLKVGP LDSVTYLDKI KKFIASIEKE KDSLGNLKIK 
WENLSNHVTD MDKKLLESQI KQLEHGWEQV EQQIQKKYSQ QVVEYDEFTT LMNKVQDTEI 
SLQQQQQHLQ LRLKSPEERA GNQSMIALTT DLQATKHGFS VLKGQAELQM KRIWGEKEKK 
NLEDGINNLK KQWETLEPLH LEAENQIKKC DIRNKMKETI LWAKNLLGEL NPSIPLLPDD 
ILSQIRKCKV THDGILARQQ SVESLAEEVK DKVPSLTTYE GSDLNNTLED LRNQYQMLVL 
KSTQRSQQLE FKLEERSNFF AIIRKFQLMV QESETLIIPR VETAATEAEL KHHHVTLEAS 
QKELQEIDSG ISTHLQELTN IYEELNVFER LFLEDQLKNL KIRTNRIQRF IQNTCNEVEH 
KIKFCRQFHE KTSALQEEAD SIQRNELLLN QEVNKGVKEE IYNLKDRLTA IKCCILQVLK 
LKKVFDYIGL NWDFSQLDQL QTQVFEKEKE LEEKIKQLDT FEEEHGKYQA LLSKMRAIDL 
QIKKMTEVVL KAPDSSPESR RLNAQILSQR IEKAKCLCDE IIKKLNENKT FDDSFKEKEI 
LQIKLNAEEN DKLYKVLQNM VLELSPKELD EKNCQDKLET SLHVLNQIKS QLQQPLLINL 
EIKHIQNEKD NCEAFQEQVW AEMCSIKAVT AIEKQREENS SEASDVETKL REFEDLQMQL 
NTSIDLRTNV LNDAYENLTR YKEAVTRAVE SITSLEAIII PYRVDVGNPE ESLEMPLRKQ 
EELESTVAHI QDLTEKLGMI SSPEAKLQLQ YTLQELVSKN SAMKEAFKAQ ETEAERYLEN 
YKCYRKMEED IYTNLSKMET VLGQSMSSLP LSYREALERL EQSKALVSNL ISTKEELMKL 
RQILRLLRLR CTENDGICLL KIVSALWEKW LSLLEAAKEW EMWCEELKQE WKFVSEEIER 
EAIILDNLQE ELPEISKTKE AATTEELSEL LDCLCQYGEN VEKQQLLLTL LLQRIRSIQN 
VPESSGAVET VPAFQEITSM KERCNKLLQK VQKNKELVQT EIQERHSFTK EIIALKNFFQ 
QTTTSFQNMA FQDHPEKSEQ FEELQSILKK GKLTFENIME KLRIKYSEMY TIVPAEIESQ 
VEECRKALED IDEKISNEVL KSSPSYAMRR KIEEINNGLH NVEKMLQQKS KNIEKAQEIQ 
KKMWDELDLW HSKLNELDSE VQDIVEQDPG QAQEWMDNLM IPFQQYQQVS QRAECRTSQL 
NKATVKMEEY SDLLKSTEAW IENTSHLLAN PADYDSLRTL SHHASTVQMA LEDSEQKHNL 
LHSIFMDLED LSIIFETDEL TQSIQELSNQ VTALQQKIME SLPQIQRMAD DVVAIESEVK 
SMEKRVSKIK TILLSKEIFD FSPEEHLKHG EVILENIRPM KKTIAEIVSY QVELRLPQTG 
MKPLPVFQRT NQLLQDIKLL ENVTQEQNEL LKVVIKQTNE WDEEIENLKQ ILNNYSAQFS 
LEHMSPDQAD KLPQLQGEIE RMEKQILSLN QRKEDLLVDL KATVLNLHQH LKQEQEGVER 
DRLPAVTSEE GGVAERDASE RKLNRRGSMS YLAAVEEEVE ESSVKSDNGD EKAEPSPQSW 
SSLWKHDKDM EEDRASSSSG TIVQEAYGKI STSDNSMAQI LTPDSLNTEQ GPECSLRPNQ 
TEEGTTPPIE ADTLDSSDAQ GGLEPRVEKT RPEPTEVLHA CKTQVAELEL WLQQANVAVE 
PETLNADMQQ VLEQQLVGCQ AMLTEIEHKV AFLLETCKDQ GLGDNGATQH EAEALSLKLK 
TVKCNLEKVQ MMLQEKHSED QHPTILKKSS EPEHQEALQP VNLSELESIV TERPQFSRQK 
DFQQQQVLEL KPMEQKDFIK FIEFNAKKMW PQYCQHDNDT TQESSASNQA SSPENDVPDS 
ILSPQGQNGD KWQYLHHELS SKIKLPLPQL VEPQVSTNMG ILPSVTMYNF RYPTTEELKT 
YTTQLEDLRQ EASNLQTQEN MTEEAYINLD KKLFELFLTL SQCLSSVEEM LEMPRLYRED 
GSGQQVHYET LALELKKLYL ALSDKKGDLL KAMTWPGENT NLLLECFDNL QVCLEHTQAA 
AVCRSKSLKA GLDYNRSYQN EIKRLYHQLI KSKTSLQQSL NEISGQSVAE QLQKADAYTV 
ELENAESRVA KLRDEGERLH LPYALLQEVY KLEDVLDSMW GMLRARYTEL SSPFVTESQQ 
DALLQGMVEL VKIGKEKLAH GHLKQTKSKV ALQAQIENHK VFFQKLVADM LLIQAYSAKI 
LPSLLQNRET FWAEQVTEVK ILEEKSRQCG MKLQSLLQKW EEFDENYASL EKDLEILIST 
LPSVSLVEET EERLVERISF YQQIKRNIGG KHARLYQTLN EGKQLVASVS CPELEGQIAK 
LEEQWLSLNK KIDHELHRLQ ALLKHLLSYN RDSDQLTKWL ESSQHTLNYW KEQSLNVSQD 
LDTIRSNINN FFEFSKEVDE KSSLKTAVIS IGNQLLHLKE TDTATLRASL AQFEQKWTML 
ITQLPDIQEK LHQLQMEKLP SRKAITEMIS WMNNVEHQTS DEDSVHSPSS ASQVKHLLQK 
HKEFRMEMDY KQWIVDFVNQ SLLQLSTCDV ESKRYERTEF AEHLGEMNRQ WHRVHGMLNR 
KIQHLEQLLE SITESENKIQ ILNNWLEAQE ERLKTLQKPE SVISVQKLLL DCQDIENQLA 
IKSKALDELK QSYLTLESGA VPLLEDTASR IDELFQKRSS VLTQVNQLKT SMQSVLQEWK 
IYDQLYDEVN MMTIRFWYCM EHSKPVVLSL ETLRCQVENL QSLQDEAESS EGSWEKLQEV 
IGKLKGLCPS VAEIIEEKCQ NTHKRWTQVN QAIADQLQKA QSLLQLWKAY SNAHGEAAAR 
LKQQEAKFQQ LANISMSGNN LAEILPPALQ DIKELQHDVQ KTKEAFLQNS SVLDRLPQPA 
ESSTHMLLPG PLHSLQRAAY LEKMLLVKAN EFEFVLSQFK DFGVRLESLK GLIMHEEENL 
DRLHQQEKEN PDSFLNHVLA LTAQSPDIEH LNEVSLKLPL SDVAVKTLQN MNRQWIRATA 
TALERCSELQ GIGLNEKFLY CCEKWIQLLE KIEEALKVDV ANSLPELLEQ QKTYKMLEAE 
VSINQTIADS YVTQSLQLLD TTEIENRPEF ITEFSKLTDR WQNAVQGVRQ RKGDVDGLVR 
QWQDFTTSVE NLFRFLTDTS HLLSAVKGQE RFSLYQTRSL IHELKNKEIH FQRRRTTCAL 
TLEAGEKLLL TTDLKTKESV GRRISQLQDS WKDMEPQLAE MIKQFQSTVE TWDQCEKKIK 
ELKSRLQVLK AQSEDPLPEL HEDLHNEKEL IKELEQSLAS WTQNLKELQT MKADLTRHVL 
VEDVMVLKEQ IEHLHRQWED LCLRVAIRKQ EIEDRLNTWV VFNEKNKELC AWLVQMENKV 
LQTADISIEE MIEKLQKDCM EEINLFSENK LQLKQMGDQL IKASNKSRAA EIDDKLNKIN 
DRWQHLFDVI GSRVKKLKET FAFIQQLDKN MSNLRTWLAR IESELSKPVV YDVCDDQEIQ 
KRLAEQQDLQ RDIEQHSAGV ESVFNICDVL LHDSDACANE TECDSIQQTT RSLDRRWRNI 
CAMSMERRMK IEETWRLWQK FLDDYSRFED WLKSAERTAA CPNSSEVLYT SAKEELKRFE 
AFQRQIHERL TQLELINKQY RRLARENRTD TASRLKQMVH EGNQRWDNLQ RRVTAVLRRL 
RHFTNQREEF EGTRESILVW LTEMDLQLTN VEHFSESDAD DKMRQLNGFQ QEITLNTNKI 
DQLIVFGEQL IQKSEPLDAV LIEDELEELH RYCQEVFGRV SRFHRRLTSC TPGLEDEKEA 
SENETDMEDP REIQTDSWRK RGESEEPSSP QSLCHLVAPG HERSGCETPV SVDSIPLEWD 
HTGDVGGSSS HEEDEEGPYY SALSGKSISD GHSWHVPDSP SCPEHHYKQM EGDRNVPPVP 
PASSTPYKPP YGKLLLPPGT DGGKEGPRVL NGNPQQEDGG LAGITEQQSG AFDRWEMIQA 
QELHNKLKIK QNLQQLNSDI SAITTWLKKT EAELEMLKMA KPPSDIQEIE LRVKRLQEIL 
KAFDTYKALV VSVNVSSKEF LQTESPESTE LQSRLRQLSL LWEAAQGAVD SWRGGLRQSL 
MQCQDFHQLS QNLLLWLASA KNRRQKAHVT DPKADPRALL ECRRELMQLE KELVERQPQV 
DMLQEISNSL LIKGHGEDCI EAEEKVHVIE KKLKQLREQV SQDLMALQGT QNPASPLPSF 
DEVDSGDQPP ATSVPAPRAK QFRAVRTTEG EEETESRVPG STRPQRSFLS RVVRAALPLQ 
LLLLLLLLLA CLLPSSEEDY SCTQANNFAR SFYPMLRYTN GPPPT

Genular Protein ID: 547817210

Symbol: Q6MZP0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q6MZP0

Database IDs:

ARBA 5 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 DNASU 1 EMBL 2 GO 2 Gene3D 1 Genevisible 1 GenomeRNAi 1 InterPro 3 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 RefSeq 1 SAM 1 SMART 2 SMR 1 SUPFAM 1

Sequence Information:

  • Length: 899
  • Mass: 103004
  • Checksum: 252C017F97BC6FF4
  • Sequence:
    • VIGSRVKKLK ETFAFIQQLD KNMSNLRTWL ARIESELSKP VVYDVCDDQE IQKRLAEQQD 
LQRDIEQHSA GVESVFNICD VLLHDSDACA NETECDSIQQ TTRSLDRRWR NICAMSMERR 
MKIEETWRLW QKFLDDYSRF EDWLKSAERT AACPNSSEVL YTSAKEELKR FEAFQRQIHE 
RLTQLELINK QYRRLARENR TDTASRLKQM VHEGNQRWDN LQRRVTAVLR RLRHFTNQRE 
EFEGTRESIL VWLTEMDLQL TNVEHFSESD ADDKMRQLNG FQQEITLNTN KIDQLIVFGE 
QLIQKSEPLD AVLIEDELEE LHRYCQEVFG RVSRFHRRLT SCTPGLEDEK EASENETDME 
DPREIQTDSW RKRGESEEPS SPQSLCHLVA PGHERSGCET PVSVDSIPLE WDHTGDVGGS 
SSHEEDEEGP YYSALSDVEI PENPEAYLKM TTKTLKASSG KSISDGHSWH VPDSPSCPEH 
HYKQMEGDRN VPPVPPASST PYKPPYGKLL LPPGTDGGKE GPRVLNGNPQ QEDGGLAGIT 
EQQSGAFDRW EMIQAQELHN KLKIKQNLQQ LNSDISAITT WLKKTEAELE MLKMAKPPSD 
IQEIELRVKR LQEILKAFDT YKALVVSVNV SSKEFLQTES PESTELQSRL RQLSLLWEAA 
QGAVDSWRGG LRQSLMQCQD FHQLSQNLLL WLASAKNRRQ KAHVTDPKAD PRALLECRRE 
LMQLEKELVE RQPQVDMLQE ISNSLLIKGH GEDCIEAEEK VHVIEKKLKQ LREQVSQDLM 
ALQGTQNPAS PLPSFDEVDS GDQPPATSVP APRAKFRAVR TTEGEEETES RVPGSTRPQR 
SFLSRVVRAA LPLQLLLLLL LLLACLLPSS EEDYSCTQAN NFARSFYPML RYTNGPPPT

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.