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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NEXN Gene

protein-coding GIFtS: 49
GCID: GC01P078354

nexilin (F actin binding protein)

Explore 7 diseases affiliated with
NEXN 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
Nexilin (F Actin Binding Protein)¹ ²		Nelin³
NELIN¹ ² ⁵		F-Actin-Binding Protein³
Nexilin¹		CMD1CC⁵
CMH20²

External Ids:	HGNC: 29557¹	Entrez Gene: 91624²	Ensembl: ENSG00000162614⁷	OMIM: 613121⁵	UniProtKB: Q0ZGT2³

Export aliases for NEXN gene to outside databases

Previous GC identifers: GC01P077776 GC01P077804 GC01P078066 GC01P078126 GC01P076485

(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 NEXN:

This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations in

this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. Alternatively spliced transcript

variants have been described.(provided by RefSeq, Feb 2010)

UniProtKB/Swiss-Prot: NEXN_HUMAN, Q0ZGT2

Function: Involved in regulating cell migration through association with the actin cytoskeleton. Has an essential role

in the maintenance of Z line and sarcomere integrity

(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_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NEXN gene promoter:
Nkx3-1 NF-1 NF-1/L AML1a AP-4 POU2F1 Nkx6-1 POU2F1b POU2F1a POU2F1c
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NEXN promoter sequence

Search SABiosciences Chromatin IP Primers for NEXN

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NEXN

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p31.1 Ensembl cytogenetic band: 1p31.1 HGNC cytogenetic band: 1p31.1

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

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P078354: view genomic region (about GC identifiers)

Start:	78,354,198 bp from pter	End:	78,409,580 bp from pter
Size:	55,383 bases	Orientation:	plus 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: NEXN_HUMAN, Q0ZGT2 (See protein sequence)

Recommended Name: Nexilin

Size: 675 amino acids; 80658 Da

Subunit: Interacts with F-actin

Subcellular location: Cytoplasm, cytoskeleton (By similarity). Cell junction, adherens junction (By similarity).

Cytoplasm, myofibril, sarcomere, Z line (By similarity). Note=Localizes to the cell-matrix AJ. Not found at the

cell-cell AJ (By similarity)

Sequence caution: Sequence=AAH17827.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A

sequence; Sequence=AAH55084.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH55084.1;

Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAI11396.1;

Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI14445.1; Type=Erroneous initiation;

Note=Translation N-terminally extended; Sequence=AAI14446.1; Type=Erroneous initiation; Note=Translation N-terminally

extended; Sequence=BAB71622.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Secondary accessions: A0PJ84 B4DPZ7 Q0D2H2 Q14CC2 Q14CC3 Q16081 Q7Z2X0 Q96DL0 Q9Y2V1

Alternative splicing: 4 isoforms: Q0ZGT2-1 Q0ZGT2-2 Q0ZGT2-3 Q0ZGT2-4 (No experimental confirmation available. Contains a phosphoserine at position 16)

Explore the universe of human proteins at neXtProt for NEXN: NX_Q0ZGT2

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q0ZGT2

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

REFSEQ proteins (2 alternative transcripts):

NP_001165780.1 NP_653174.3

ENSEMBL proteins:

ENSP00000383814 ENSP00000333938 ENSP00000411902 ENSP00000343928 ENSP00000388048

ENSP00000327363 ENSP00000294624

Human Recombinant Protein Products for NEXN:

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	GenScript Custom Purified and Recombinant Proteins Services for NEXN
	Novus Biologicals NEXN Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for NEXN

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005856	cytoskeleton	IEA	--
GO:0005924	cell-substrate adherens junction	IEA	--
GO:0030018	Z disc	ISS	--

NEXN for ontologies About GeneDecksing

NEXN Antibody Products:

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	Novus Biologicals NEXN Antibodies
	Abcam antibodies for NEXN
	Uscn Antibodies for NEXN
	Search ThermoFisher Antibodies for NEXN

Assay Products for NEXN:

	Browse Kits and Assays available from EMD Millipore
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	GenScript Custom Assay Services for NEXN
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for NEXN

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

NEXN for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR020675 Myosin_light_ch_kinase-rel

IPR020678 Nexilin

IPR007110 Ig-like_dom

IPR003599 Ig_sub

IPR013098 Ig_I-set

Graphical View of Domain Structure for InterPro Entry Q0ZGT2

ProtoNet protein and cluster: Q0ZGT2

1 Blocks protein family: IPB013098 Immunoglobulin I-set

UniProtKB/Swiss-Prot: NEXN_HUMAN, Q0ZGT2

Similarity: Contains 1 Ig-like (immunoglobulin-like) 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: NEXN_HUMAN, Q0ZGT2

Function: Involved in regulating cell migration through association with the actin cytoskeleton. Has an essential role

in the maintenance of Z line and sarcomere integrity

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:0008307	structural constituent of muscle	IMP	19881492
GO:0051015	actin filament binding	IDA	15823560

NEXN for ontologies About GeneDecksing

Animal Models:

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

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NEXN
		8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate NEXN (see all 16):
		hsa-miR-3163 hsa-miR-217 hsa-miR-328 hsa-miR-4311 hsa-miR-520d-5p hsa-miR-944 hsa-miR-138-2* hsa-miR-29b-1*

		SwitchGear 3'UTR luciferase reporter plasmid: NEXN 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NEXN (see all 7) OriGene shRNA RFP: NEXN OriGene siRNA: NEXN
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NEXN
		Sirion Biotech Custom design and validation of potent shRNA sequences against NEXN

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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NEXN (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NEXN (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): NEXN (NM_144573)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for NEXN
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NEXN

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for NEXN
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEXN

(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

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for NEXN

STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

5/11 Interacting proteins for NEXN (Q0ZGT2^{2, 3} ENSP00000333938⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 11)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CALM1	P62158³, ENSP00000349467⁴	I2D: score=1 STRING: ENSP00000349467
CALM2	P62158³	I2D: score=1
CALM3	P62158³	I2D: score=1
NELL1	Q92832²^,³, ENSP00000298925⁴	MINT-8187874 I2D: score=1 STRING: ENSP00000298925
ACTA1	P68133³, ENSP00000355645⁴	I2D: score=1 STRING: ENSP00000355645

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0030334	regulation of cell migration	IDA	15823560
GO:0051493	regulation of cytoskeleton organization	IEP	15823560

NEXN 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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NEXN
Search CenterWatch for drugs/clinical trials and news about NEXN

(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 NEXN gene (2 alternative transcripts):

NM_001172309.1 NM_144573.3

Unigene Cluster for NEXN:

Nexilin (F actin binding protein)

Hs.612385 [show with all ESTs]

Unigene Representative Sequence: NM_144573

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000401035 ENST00000334785 ENST00000440324 ENST00000342754 ENST00000464998

ENST00000480732 ENST00000470735 ENST00000457030(uc001dia.3 uc009wcb.1)

ENST00000330010(uc001did.1 uc001dif.1 uc001dic.4 uc001dib.4 uc001dig.4)

ENST00000294624

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NEXN
		8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate NEXN (see all 16):
		hsa-miR-3163 hsa-miR-217 hsa-miR-328 hsa-miR-4311 hsa-miR-520d-5p hsa-miR-944 hsa-miR-138-2* hsa-miR-29b-1*

		SwitchGear 3'UTR luciferase reporter plasmid: NEXN 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NEXN (see all 7) OriGene shRNA RFP: NEXN OriGene siRNA: NEXN
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NEXN
		Sirion Biotech Custom design and validation of potent shRNA sequences against NEXN

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NEXN (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NEXN (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): NEXN (NM_144573)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for NEXN
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NEXN

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NEXN Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NEXN
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NEXN

Additional cDNA sequence:

AF114264.1 AF176780.1 AK057954.1 AK127535.1 AK293201.1 AK298565.1 AK300728.1 AK307487.1

AY211912.1 BC017827.1 BC055084.1 BC111395.1 BC114444.1 BC114445.1 BX648546.1 CR936630.1

DQ464902.1 S67069.1

14 DOTS entries:

DT.95252120 DT.92438372 DT.92438361 DT.102844309 DT.97817636 DT.121441209 DT.101960529 DT.75140914

DT.92438357 DT.100826907 DT.95252090 DT.121441282 DT.430738 DT.97805791

24/175 AceView cDNA sequences (see all 175):

AI147652 AI935567 AA181318 AI803472 F31719 AA194271 AV701995 AA236374

AL119598 AA233880 AL692091 AI193315 BC055084 AW069343 BU172425 AA403186

T29636 AA404675 BU681346 AK127535 F35592 F30780 AA235347 C04150

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

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

About this image

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

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Head Mesenchyme

Head Mesenchyme

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Posterior foregut-like cells (A scalable, suspensi...)

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

SOURCE GeneReport for Unigene cluster: Hs.612385

UniProtKB/Swiss-Prot: NEXN_HUMAN, Q0ZGT2

Tissue specificity: Abundantly expressed in heart and skeletal muscle, and at lower levels in placenta, lung, liver and

pancreas. Also expressed in HeLaS3 and MOLT-4 cell lines

SABiosciences Expression via Pathway-Focused PCR Arrays including NEXN:

Prostate Cancer in human mouse rat

Cardiotoxicity in human mouse rat

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		SABiosciences RT² qPCR Primer Assay in human, mouse, rat NEXN
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NEXN

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEXN

(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 chordates.

Orthologs for NEXN gene from 5/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Nexn^{1 , 5}	nexilin^{1, 5}	87.68(n)¹ 88.96(a)¹		3 (77.07 cM)⁵ 68810¹ NM_199465.2¹ NP_955759.2¹ 152236986⁵
chicken (Gallus gallus)	Aves	NEXN¹	nexilin (F actin binding protein)	78.88(n) 80.63(a)		424552 XM_003641699.1 XP_003641747.1
lizard (Anolis carolinensis)	Reptilia	NEXN⁶	--	78(a)	1 ↔ 1	GL343194.1(4772893-4800290)
African clawed frog (Xenopus laevis)	Amphibia	Xl.16131²	Xenopus laevis transcribed sequence with weak similarity more	77.06(n)		BQ732420.1
zebrafish (Danio rerio)	Actinopterygii	nexn¹	nexilin (F actin binding protein)	60.11(n) 59.13(a)		573301 NM_001083855.2 NP_001077324.2

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

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

Paralogs for NEXN gene

TCHH² EIF3A² CALD1²

3 SIMAP similar genes for NEXN using alignment to 6 protein entries: NEXN_HUMAN (see all proteins):

DKFZp686A0568 MYLK KIAA0992

NEXN 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 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs137853197^1,2	C	pathogenic	87049382(+)	`AGAGTA/GTATGT`	4	Y C	mis¹		0	--	--	--	--
rs74092323^1,2	C	--	76484041(+)	`CAAGGG/ACACAA`	3	--	us2k¹ int¹		2		WA	120
rs112918340^1,2		--	76484356(+)	`TCAAGC/AGAAGT`	3	--	us2k¹ int¹		1		CSA	2
rs58404594^1,2	C,F	--	76484720(+)	`CACTAG/AGCTAA`	3	--	us2k¹ int¹		5		WA CSA NA	244
rs113300435^1,2	C,F	--	76485209(+)	`TATAAA/GTATAT`	3	--	us2k¹ nc-transcript-variant		1		NA	120
rs77761183^1,2	F	--	76485217(+)	`TATTCC/ATTCTT`	3	--	us2k¹ nc-transcript-variant		1		NA	120
rs74092324^1,2	C,F	--	76485331(+)	`TAACTC/ATCCTT`	3	--	us2k¹ nc-transcript-variant		4		WA CSA NA	242
rs75906582^1,2	F	--	76485586(+)	`GCCCAT/CTTCAG`	3	--	us2k¹ nc-transcript-variant		1		WA	118
rs79972342^1,2		--	76485709(+)	`AAATTA/CTGGCG`	3	--	us2k¹ nc-transcript-variant		0	--	--	--	--
rs9726525^1,2	C,F,A,H	--	76486212(+)	`GCTCCG/TGAGGG`	3	--	int¹ nc-transcript-variant		6		EA NS WA NA	654

HapMap Linkage Disequilibrium report for NEXN (78354198 - 78409580 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for NEXN: --
Human Gene Mutation Database (HGMD): NEXN

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NEXN

DNA2.0 Custom Variant and Variant Library Synthesis for NEXN

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

NEXN for disorders           About GeneDecksing

OMIM gene information: 613121
OMIM disorders: 613122
UniProtKB/Swiss-Prot: NEXN_HUMAN, Q0ZGT2

Defects in NEXN are the cause of cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122]. A disorder

characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and

arrhythmia. Patients are at risk of premature death

Defects in NEXN are the cause of familial hypertrophic cardiomyopathy type 20 (CMH20) [MIM:613876]. CMH20 is a

hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the

interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be

readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant

forms with high risk of cardiac failure and sudden cardiac death

7 diseases for NEXN: About MalaCards

dilated cardiomyopathy aarskog-scott syndrome cardiomyopathy hypertrophic cardiomyopathy

scott syndrome sarcoma thyroiditis

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

Export disorders for NEXN 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)
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PubMed articles for NEXN gene, integrated from 9 sources (see all 27):
(articles sorted by number of sources associating them with NEXN)

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Molecular cloning of NELIN, a putative human cytoskeleton regulation gene. (PubMed id 12053183)^{1, 2, 3} Zhao Y.... Ding J.-F. (2001)
Muscle autoantigens in thyroid associated ophthalmopathy: the limits of molecular genetics. (PubMed id 8227983)^{1, 2, 3} Elisei R.... Ludgate M. (1993)
Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. (PubMed id 19881492)^{1, 2, 9} Hassel D.... Rottbauer W. (2009)
NELIN, a new F-actin associated protein, stimulates HeLa cell migration and adhesion. (PubMed id 15823560)^{1, 2, 9} Wang W.... Hui R. (2005)
Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. (PubMed id 20970104)^{1, 2} Wang H....Fan Y. (2010)
Nexilin is a dynamic component of Listeria monocytogen es and enteropathogenic Escherichia coli actin-rich structures. (PubMed id 22381134)¹ Law H.T....Guttman J.A. (2012)
System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)² Rigbolt K.T....Blagoev B. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)² Olsen J.V....Mann M. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 91624	HGNC: 29557	AceView: NEXN	Ensembl:ENSG00000162614	euGenes: HUgn91624
ECgene: NEXN	H-InvDB: NEXN

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for NEXN	Pharmacogenomics, SNPs, Pathways

Intellectual Property for NEXN gene
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Patent Information for NEXN gene:
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NEXN Gene

nexilin (F actin binding protein)

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NEXN Gene

nexilin (F actin binding protein)

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