Aliases &
Descriptions
for NEB gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| nebulin1 2 | | FLJ115052 | | NEB177D1 2 | | FLJ395842 | | NEM22 5 | | DKFZp686C14562 | | FLJ365362 | | OTTHUMP000002044012 | | FLJ395682 | | |
Export aliases for NEB gene to outside databasesPrevious GC identifers: GC02M150163 GC02M150870 GC02M152306 GC02M152544 GC02M152167 GC02M152050 |
Summaries
for NEB gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for NEB:
This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thinfilaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the totalmyofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classifiedinto 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicingthat is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 arealternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousandtranscript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeqrecords. Mutations in this gene are associated with recessive nemaline myopathy. (provided by RefSeq)
UniProtKB/Swiss-Prot: NEBU_HUMAN, P20929Function: This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and themembrane system associated with the myofibrils. Bind and stabilize F-actin
|
Genomic Views
for NEB gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the NEB gene promoter:
MyoD LCR-F1 FOXD1 RORalpha2 Chx10 E47 Tal-1beta FOXI1 C/EBPalpha IRF-7A
Other transcription factors
Search SABiosciences Chromatin IP Primers for NEB
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for NEB  |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2q22 Ensembl cytogenetic band: 2q23.3 HGNC cytogenetic band: 2q22NEB Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02M144238: view genomic region
(about GC identifiers)
Start:
|
144,238,157 bp from pter |
End:
|
144,477,212 bp from pter |
Size:
|
239,056 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr2- 152,341,850-152,591,001 |
RefSeq DNA sequence:- NC_000002.11 NT_005403.17
|
Proteins
for NEB gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
|
UniProtKB/Swiss-Prot: NEBU_HUMAN, P20929 (See
protein sequence)Recommended Name: Nebulin Size: 6669 amino acids; 772927 Da
Subunit: Interacts with TTN/titin. Interacts with SVIL
Subcellular location: Cytoplasm, myofibril, sarcomere. Cytoplasm, cytoskeleton
PDB structure from  and Proteopedia  :1ARK (3D)
1NEB (3D)
Secondary accessions: Q15346 Q53QQ2 Q53TG8Explore the universe of human proteins at neXtProt for NEB: NX_P20929
Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins (3 alternative transcripts):
NP_001157979.1 NP_001157980.1 NP_004534.2
ENSEMBL proteins: ENSP00000380497 ENSP00000380498 ENSP00000405167 ENSP00000408570 ENSP00000386259 ENSP00000380503 ENSP00000416578 ENSP00000427083 ENSP00000389074 ENSP00000410961 ENSP00000380505 ENSP00000404876 ENSP00000172853
Human Recombinant Proteins
5 Gene Ontology (GO) cellular component terms (GO ID links to tree view): About this table
NEB for ontologies About GeneDecksing
Antibodies for NEB:
Assays for NEB: |
Protein
Domains/
Families
for NEB gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
NEB for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P20929ProtoNet protein and cluster: P20929 1 Blocks protein family: IPB001452 SH3 domain signature
UniProtKB/Swiss-Prot: NEBU_HUMAN, P20929Similarity: Contains 178 nebulin repeatsSimilarity: Contains 1 SH3 domain |
Gene Function
for NEB gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: NEBU_HUMAN, P20929Function: This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and themembrane system associated with the myofibrils. Bind and stabilize F-actin
Genatlas biochemistry entry for NEB:nebulin,helical actin binding protein,of the skeletal muscle,involved in the length regulation of the thin filament4 Gene Ontology (GO) molecular function terms (GO ID links to tree view): About this table
NEB for ontologies About GeneDecksing
Animal Models: 7 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Neb):
NEB for phenotypes About GeneDecksing
|
Pathways & Interactions
for NEB gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
SABiosciences Pathway-Focused PCR Array including NEB: PAHS-099A
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NEB
5/36 Interacting proteins for NEB (ENSP000001728533 P209292) via UniProtKB, MINT, and/or STRING (see all 36)About this table
4 Gene Ontology (GO) biological process terms (GO ID links to tree view): About this table
NEB for ontologies About GeneDecksing
|
Drugs & Compounds
for NEB gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
NEB for compounds About GeneDecksing
 Browse Tocris compounds for NEB
9  Novoseek chemical compound relationships for NEB gene
About this table
|
Transcripts
for NEB gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for NEB gene (3 alternative transcripts): NM_001164507.1 NM_001164508.1 NM_004543.4 Additional cDNA sequence: AK056994.1 AK096887.1 AK096903.1 AK129532.1 AK300079.1 AK300674.1 AK300722.1 AK307607.1 BC012533.1 BC022421.2 BC029384.1 BC050436.1 BC056251.1 BC063136.1 BC105590.1 BX648963.1 M19669.1 U35637.1 X58122.1 24/25 DOTS entries (see all 25): DT.100789218 DT.118717 DT.101962653 DT.97769736 DT.101980156 DT.100789214 DT.100789215 DT.100789219 DT.91711045 DT.40251008 DT.40277813 DT.75188871 DT.91761044 DT.40117385 DT.95279559 DT.99978173 DT.95272576 DT.100810622 DT.120963280 DT.120963288 DT.91905447 DT.91971823 DT.95203257 DT.100736202 24/240 AceView cDNA sequences (see all 240): T31470 U35637 AL598734 AH003593 AK056994 AK093855 U35636 F24278 BQ923991 BF672047 AI459098 BM724539 F22351 BC063136 BQ771579 BX500189 AL597812 BM698827 AL596549 BQ884286 BM699500 AI079911 CF552133 AL596572
 highest scoring ESTs for NEB:BC012533 BC029384 BC056251 AA026688 AA026699 AA085860 AA086222 AA086223 AA086272 AA112224 Unigene Cluster for NEB: Nebulin Hs.588655 [show with all ESTs]Unigene Representative Sequence: NM_001164508
GeneLoc Exon Structure
18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20): ENST00000397336 ENST00000483418 ENST00000489048(uc010fny.1) ENST00000397337(uc010zbz.1 uc002txq.2 uc010zca.1)
ENST00000420924 ENST00000497809 ENST00000421461 ENST00000409198(uc010zcb.1 uc010fnx.2 uc002txu.2)
ENST00000397342 ENST00000480784 ENST00000427231(uc002txr.2) ENST00000484968
ENST00000509223(uc002txt.3) ENST00000434685 ENST00000413693 ENST00000397345
ENST00000486320 ENST00000424585
|
Expression
for NEB gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| NEB expression in normal and diseased human tissues
1 / 2 / 3 7 probe-sets matching NEB gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 38461_at2, 3
|
U95-A |
1 |
1.00 |
1.00 |
0.98 |
1.21 |
X83957 |
0.80 |
0.81 |
0.81 |
1 |
| 59882_f_at2, 3
|
U95-C |
1 |
0.75 |
1.00 |
0.99 |
0.78 |
AI150628 |
0.60 |
1.00 |
0.82 |
1 |
| 59883_r_at2, 3
|
U95-C |
1 |
0.69 |
1.00 |
0.86 |
1.12 |
AI150628 |
0.60 |
1.00 |
0.82 |
1 |
| 205054_at2, 3
|
U133-A |
1 |
1.00 |
1.00 |
-- |
-- |
NM_004543 |
0.60 |
1.00 |
0.82 |
1 |
| 215368_at2, 3
|
U133-A |
1 |
0.46 |
1.00 |
-- |
-- |
R78299 |
0.40 |
1.00 |
0.76 |
1 |
| 205054_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 215368_at2
|
U133Plus2 |
1 |
0.46 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
NEB for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: AAAGTGAAAA
SOURCE GeneReport for Unigene cluster: Hs.588655
Expression variation in blood from EXPOLDB for NEB UniProtKB/Swiss-Prot: NEBU_HUMAN, P20929Tissue specificity: Muscle specific. Located in the thin filament of striated muscle
SABiosciences Expression via Pathway-Focused PCR Array including NEB: PAHS-099A
|
Orthologs
for NEB gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for NEB gene from 5/8 species (see all 8)
About this table Species with no ortholog for NEB
ENSEMBL Gene Tree for NEB (if available) |
Paralogs
for NEB gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for NEB gene
- NRAP2 LASP12 NEBL2
NEB for paralogs About GeneDecksing
|
Genomic Variants
for NEB gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 2 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for NEB (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for NEB
5 CNVs: 90079 32381 68190 0532 8961 | | QIAGEN SeqTarget long-range PCR primers for resequencing NEB |
|
Disorders & Mutations
for NEB gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
NEB for disorders About GeneDecksing
OMIM: 161650 disorders: 256030 UniProtKB/Swiss-Prot: NEBU_HUMAN, P20929
Defects in NEB are the cause of nemaline myopathy type 2 (NEM2) [MIM:256030]. A form of nemaline myopathy.Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, andabnormal thread-or rod-like structures in muscle fibers on histologic examination
9 Novoseek disease relationships for NEB gene
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| nemaline myopathy autosomal recessive |
96.2 |
8 |
9359044 (1), 15266303 (1), 10334479 (1), 10590887 (1) (see all 5) |
| myopathies nemaline |
95.2 |
29 |
15336686 (3), 11257470 (2), 11257471 (2), 9713857 (1) (see all 20) |
| nemaline myopathy autosomal dominant |
88.4 |
1 |
11731279 (1) |
| myopathy, congenital |
83 |
2 |
7608737 (1), 17303423 (1) |
| myopathy |
72.1 |
4 |
11882289 (1), 17157023 (1), 8307566 (1) |
| muscular dystrophies |
55 |
4 |
17303423 (1), 8307566 (1), 11699871 (1) |
| central core disease |
53.4 |
1 |
9713857 (1) |
| limb girdle |
45.4 |
1 |
11699871 (1) |
| myositis |
14.3 |
2 |
8307566 (1) |
About this table
GeneTests: NEB
Nemaline Myopathy
Locus Specific Mutation Databases (LSDB): NEB
Human Gene Mutation Database (HGMD): NEB
Human Genome Epidemiology (HuGE) Navigator: NEB (3 documents)
Export disorders and mutations for NEB gene to outside databases
|
Medical News
for NEB gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| |
Publications
for NEB gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/170 PubMed articles for NEB gene, integrated from 7 sources (see all 170):
(articles sorted by number of sources associating them with NEB)- Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. (PubMed id 10051637)1, 2, 3, 7 Pelin K.... Wallgren-Pettersson C. (1999)
- The complete primary structure of human nebulin and its correlation to muscle structure. (PubMed id 7739042)1, 2, 7 Labeit S. and Kolmerer B. (1995)
- Cloning, expression, and protein interaction of human nebulin fragments composed of varying numbers of sequence modules. (PubMed id 1682316)1, 2, 7 Jin J.P. and Wang K. (1991)
- SH3 in muscles: solution structure of the SH3 domain from nebulin. (PubMed id 9514727)1, 2, 7 Politou A.S.... Pastore A. (1998)
- Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy. (PubMed id 9359044)1, 3, 7 Pelin K....Wallgren-Petterson C. (1997)
- Interaction of nebulin SH3 domain with titin PEVK and myopalladin: implications for the signaling and assembly role of titin and nebulin. (PubMed id 12482578)1, 2, 7 Ma K. and Wang K. (2002)
- Archvillin anchors in the Z-line of skeletal muscle via the nebulin C-terminus. (PubMed id 18639526)1, 2 Lee M.-A.... Kim C.-R. (2008)
- Cloning and expression of human nebulin cDNAs and assignment of the gene to chromosome 2q31-q32. (PubMed id 3397062)1, 2 Zeviani M.... Schon E.A. (1988)
- Nebulin regulates actin filament lengths by a stabili zation mechanism. (PubMed id 20498015)1, 7 Pappas C.T....Gregorio C.C. (2010)
- Assembly of nebulin into the sarcomeres of avian skeletal muscle. (PubMed id 8816284)1, 7 Moncman C.L. and Wang K. (1996)
|
External Searches for NEB gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing NEB gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing NEB gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing NEB gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| Patent Information for NEB gene:
Search GeneIP for patents involving NEB
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for NEB gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
 | |
 |
| | | |
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 |  |  |  | |
| |  | Search Tocris compounds for NEB |
| |  |  |  |  | | | | |
 | | | ELISAs and CLIAs for NEB |
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