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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NEB Gene

protein-coding GIFtS: 60
GCID: GC02M152306

nebulin

(Previous symbol: NEM2)

Explore 13 diseases affiliated with
NEB via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Nebulin¹
NEM2¹ ² ⁵
NEB177D¹ ²
Nemaline Myopathy Type 2²

External Ids:	HGNC: 7720¹	Entrez Gene: 4703²	Ensembl: ENSG00000183091⁷	OMIM: 161650⁵	UniProtKB: P20929³

Export aliases for NEB gene to outside databases

Previous GC identifers: GC02M150163 GC02M150870 GC02M152544 GC02M152167 GC02M152050 GC02M144238

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
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 thin

filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total

myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified

into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing

that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are

alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand

transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq

records. Mutations in this gene are associated with recessive nemaline myopathy. (provided by RefSeq, Sep 2009)

UniProtKB/Swiss-Prot: NEBU_HUMAN, P20929

Function: This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the

membrane system associated with the myofibrils. Binds and stabilize F-actin

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_005403.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NEB gene promoter:
USF1 Nkx2-2 STAT5A NF-AT C/EBPalpha NF-AT2 USF-1 NF-AT3 RSRFC4 NF-AT1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NEB promoter sequence

Search SABiosciences Chromatin IP Primers for NEB

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat 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: 2q22

NEB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NEB gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M152306: view genomic region (about GC identifiers)

Start:	152,341,850 bp from pter	End:	152,591,001 bp from pter
Size:	249,152 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

2 PDB 3D structures from and Proteopedia for NEB:

1ARK (3D)

1NEB (3D)

Secondary accessions: Q15346 Q53QQ2 Q53TG8

Explore the universe of human proteins at neXtProt for NEB: NX_P20929

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P20929

NEB Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001157979.1 NP_001157980.1 NP_001258137.1 NP_004534.2

ENSEMBL proteins:

ENSP00000386259 ENSP00000380498 ENSP00000410961 ENSP00000389074 ENSP00000408570

ENSP00000404876 ENSP00000405167 ENSP00000380505 ENSP00000416578 ENSP00000172853

ENSP00000427083 ENSP00000380497

Reactome Protein details: P20929
Human Recombinant Protein Products for NEB:

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	GenScript Custom Purified and Recombinant Proteins Services for NEB
	Novus Biologicals NEB Protein
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	Browse ProSpec Recombinant Proteins
	Uscn Proteins for NEB

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--
GO:0015629	actin cytoskeleton	TAS	7739042
GO:0030016	myofibril	--	--
GO:0030018	Z disc	IDA	9501083

NEB for ontologies About GeneDecksing

NEB Antibody Products:

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(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:

IPR000900 Nebulin_35r-motif

IPR013998 Nebulin

IPR001452 SH3_domain

Graphical View of Domain Structure for InterPro Entry P20929

ProtoNet protein and cluster: P20929

1 Blocks protein family: IPB001452 SH3 domain signature

UniProtKB/Swiss-Prot: NEBU_HUMAN, P20929

Similarity: Contains 178 nebulin repeats

Similarity: Contains 1 SH3 domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: NEBU_HUMAN, P20929

Function: This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the

membrane system associated with the myofibrils. Binds 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 filament

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	IEA	--
GO:0008307	structural constituent of muscle	TAS	7739042

NEB for ontologies About GeneDecksing

Phenotypes:
7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Neb):

adipose tissue	behavior/neurological	growth/size	mortality/aging	muscle
skeleton	vision/eye

NEB for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Neb^tm1Slbt for NEB

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for NEB

miRNA Products:		OriGene 3'-UTR Clone (see all 3): NEB Browse MicroRNA Expression Plasmids
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		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NEB OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NEB OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): NEB (NM_004543)
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEB

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Striated Muscle Contraction

	Striated Muscle Contraction	1.00			Muscle contraction	0.65
	Striated Muscle Contraction	0.87

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for NEB

Striated Muscle Contraction

2 Reactome Pathways for NEB

	Muscle contraction
	Striated Muscle Contraction

NEB for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for NEB

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/54 Interacting proteins for NEB (P20929^{1, 2, 3} ENSP00000386259⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 54)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TTN	Q8WZ42²^,³	MINT-2882539 MINT-7032264 MINT-2882627 MINT-2882669 MINT-7032305 MINT-7032278 I2D: score=2
MYPN	Q86TC9²^,³, ENSP00000351790⁴	MINT-7032393 MINT-7032374 I2D: score=3 STRING: ENSP00000351790
ABI1	Q8IZP0²^,³, ENSP00000365312⁴	MINT-45992 I2D: score=3 STRING: ENSP00000365312
TRIM63	Q969Q1²^,³, ENSP00000363390⁴	MINT-6503630 I2D: score=2 STRING: ENSP00000363390
CAPZA1	P52907²^,³, ENSP00000263168⁴	MINT-2882710 I2D: score=1 STRING: ENSP00000263168

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007517	muscle organ development	TAS	7739042
GO:0007525	somatic muscle development	NAS	7739042
GO:0030049	muscle filament sliding	TAS	--
GO:0030832	regulation of actin filament length	NAS	7739042

NEB for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

NEB for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NEB
9 Novoseek chemical compound relationships for NEB gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
phalloidin	49.4	13	17131830 (4), 8586652 (3), 9258508 (1), 14714525 (1)
quin2	49.3	1	1295887 (1)
actomyosin	44.5	7	7918483 (2), 11170442 (1)
ryanodine	18.2	2	9713857 (1), 17157023 (1)
calcium	8.98	9	1295887 (2), 7918483 (2), 9398354 (1), 11425319 (1) (see all 5)
polyacrylamide	0	1	7710083 (1)
tyrosine	0	2	8774733 (1)
glycogen	0	1	17055998 (1)
paclitaxel	0	1	8816284 (1)

Search CenterWatch for drugs/clinical trials and news about NEB / NEBU

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NEB gene (4 alternative transcripts):

NM_001164507.1 NM_001164508.1 NM_001271208.1 NM_004543.4

Unigene Cluster for NEB:

Nebulin

Hs.588655 [show with all ESTs]

Unigene Representative Sequence: NM_001271208

18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):

ENST00000409198(uc021vrb.1 uc010fnx.3 uc021vrd.1) ENST00000397337(uc010zbz.2 uc002txq.3 uc010zca.2 uc010zcb.2)

ENST00000413693 ENST00000434685 ENST00000497809 ENST00000498015 ENST00000421461

ENST00000424585 ENST00000483418 ENST00000480784 ENST00000420924 ENST00000486320

ENST00000484968 ENST00000489048(uc010fny.2) ENST00000397345(uc021vrc.1)

ENST00000427231(uc002txt.4 uc002txr.3 uc002txu.3) ENST00000172853

ENST00000509223

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NEB
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		GenScript: all cDNA clones in your preferred vector (see all 3): NEB (NM_004543)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for NEB
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NEB

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.40251008

DT.40277813 DT.100789219 DT.91711045 DT.91761044 DT.40117385 DT.95279559 DT.99978173 DT.75188871

DT.95272576 DT.100810622 DT.120963280 DT.120963288 DT.91905447 DT.91971823 DT.100736202 DT.95203257

24/240 AceView cDNA sequences (see all 240):

BF672047 AK093855 AA086222 CF552671 BQ771579 AL596572 CF552133 AI459098

BC063136 BX499979 AH003593 T31470 AL597812 BQ884286 BX500189 AI079911

BX283647 AA328178 U35636 AA086272 U35637 F24278 F36900 BQ923991

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NEB expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAAGTGAAAA

About this image

NEB expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/15 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 15)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Forelimb Dorsal Muscles

Multinuclear Myocytes

Skeletal Muscle

Limb

Forelimb Ventral Muscles

Multinuclear Myocytes

Skeletal Muscle

Limb

Hindlimb Dorsal Muscle

Multinuclear Myocytes

Skeletal Muscle

Limb

Hindlimb Ventral Muscle

Multinuclear Myocytes

Skeletal Muscle

Anterior Neck Muscles

Multinuclear Myocytes

Skeletal Muscle

Cervical Back Muscles

Multinuclear Myocytes

Skeletal Muscle

Lumbar Back Muscles

Multinuclear Myocytes

Skeletal Muscle

Lumbar Vertebrae Column Muscles

Multinuclear Myocytes

Skeletal Muscle

Pelvic Muscles

Multinuclear Myocytes

Skeletal Muscle

Posterior Neck Muscles

Multinuclear Myocytes

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Mesendoderm-like cells (Generation of mesend...)

See NEB Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NEB

SOURCE GeneReport for Unigene cluster: Hs.588655

UniProtKB/Swiss-Prot: NEBU_HUMAN, P20929

Tissue specificity: Muscle specific. Located in the thin filament of striated muscle

SABiosciences Expression via Pathway-Focused PCR Array including NEB:

Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NEB

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEB

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for NEB gene from 6/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	NEB¹	nebulin	67.97(n) 65.79(a)		374027 XM_422163.3 XP_422163.3
lizard (Anolis carolinensis)	Reptilia	NEB⁶	--	72(a)	1 ↔ 1	GL343302.1(1362296-1567299)
African clawed frog (Xenopus laevis)	Amphibia	Xl.9655²	Xenopus laevis transcribed sequence with moderate similarity more	83.75(n)		CB941530.1
zebrafish (Danio rerio)	Actinopterygii	neb⁶	nebulin	58(a)	1 ↔ 1	9(23838483-23926183)
fruit fly (Drosophila melanogaster)	Insecta	Lasp⁶	Lasp	16(a)	1 → many	3L(16669506-16704777)
worm (Caenorhabditis elegans)	Secernentea	F42H10.3⁶	LIM and SH3 domain protein F42H10.3	23(a)	1 → many	III(8484081-8488284)

ENSEMBL Gene Tree for NEB (if available)
TreeFam Gene Tree for NEB (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for NEB gene

NRAP² LASP1² NEBL²

6 SIMAP similar genes for NEB using alignment to 19 protein entries: NEBU_HUMAN (see all proteins):

SH3RF3 ARHGEF7 SH3GL2 NRAP NEBL SH3GL1

NEB for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs201941010^1,2	C	other	152581424(+)	`TTTTTC/TATCTA`	8	K E	mis¹		1		EU	593
rs5835375^1,2	C,F	--	144406741(+)	`CTTCAT/-TTTTT`	1	--	int¹ trp³		4		NA CSA	8
rs78481438^1,2		--	152341383(+)	`TGGCAT/CAGAGG`	4	--	ds500¹		1		EA	120
rs181243882^1,2		--	152341405(+)	`CATTCA/GCAAGT`	4	--	ds500¹		0	--	--	--	--
rs150755583^1,2		--	152341764(+)	`TTTTAA/GTAATT`	4	--	ds500¹		0	--	--	--	--
rs186405260^1,2		--	152341818(+)	`AAACCA/GTTAAA`	4	--	ds500¹		0	--	--	--	--
rs59509952^1,2	C	--	152342009(+)	`AATCC-/CTGTTTT`	4	--	ut3¹		0	--	--	--	--
rs116443656^1,2	C	--	152342053(+)	`TGGAGA/GAAGAC`	4	--	ut3¹		1		WA	118
rs1061317^1,2	H	--	152342062(-)	`GTGCCT/CAGAGT`	4	--	ut3¹ ese³		6		MN NS EA NA	604
rs190132249^1,2		--	152342073(+)	`AGAAAA/TAATAT`	4	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for NEB (152341850 - 152591001 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for NEB
5 CNVs: 90079 32381 68190 0532 8961
Human Gene Mutation Database (HGMD): NEB

Locus Specific Mutation Databases (LSDB): NEB

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

NEB for disorders           About GeneDecksing

OMIM gene information: 161650
OMIM 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, and

abnormal thread-or rod-like structures in muscle fibers on histologic examination

13 diseases for NEB: About MalaCards

nemaline myopathy nemaline myopathy 2, autosomal recessive myopathy nemaline myopathy 2

muscular dystrophy dystrophinopathies myositis graves' disease

polymyositis protein s deficiency hypotonia leukemia

alcoholism

2 diseases from the University of Copenhagen DISEASES database for NEB:

Myopathy Neuropathy

9 Novoseek disease relationships for NEB gene About this table

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)

GeneTests: NEB

Nemaline Myopathy

Human Genome Epidemiology (HuGE) Navigator: NEB (4 documents)

Export disorders for NEB gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for NEB gene, integrated from 9 sources (see all 179):
(articles sorted by number of sources associating them with NEB)

Utopia: connect your pdf to the dynamic
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Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. (PubMed id 10051637)^{1, 2, 3, 9} Pelin K.... Wallgren-Pettersson C. (1999)
The complete primary structure of human nebulin and its correlation to muscle structure. (PubMed id 7739042)^{1, 2, 9} 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, 9} Jin J.P. and Wang K. (1991)
SH3 in muscles: solution structure of the SH3 domain from nebulin. (PubMed id 9514727)^{1, 2, 9} 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, 9} 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, 9} 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, 9} Pappas C.T....Gregorio C.C. (2010)
Assembly of nebulin into the sarcomeres of avian skeletal muscle. (PubMed id 8816284)^{1, 9} Moncman C.L. and Wang K. (1996)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 4703	HGNC: 7720	AceView: NEB	Ensembl:ENSG00000183091	euGenes: HUgn4703
ECgene: NEB	H-InvDB: NEB

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for NEB	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for NEB	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NEB

Intellectual Property for NEB gene
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Patent Information for NEB gene:
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GeneCards and IP:
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