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] See more...

Aliases for NEXN Gene

Aliases for NEXN Gene

  • Nexilin F-Actin Binding Protein 2 3 5
  • Nexilin 2 3 4
  • NELIN 2 3
  • Nexilin (F Actin Binding Protein) 2
  • F-Actin-Binding Protein 4
  • CMH20 3
  • Nelin 4
  • NEXN 5

External Ids for NEXN Gene

Previous GeneCards Identifiers for NEXN Gene

  • GC01P077776
  • GC01P077804
  • GC01P078066
  • GC01P078126
  • GC01P078354
  • GC01P076485
  • GC01P077890
  • GC01P077891
  • GC01P077901
  • GC01P077903
  • GC01P077900
  • GC01P077899
  • GC01P077892
  • GC01P077894
  • GC01P077895
  • GC01P077896
  • GC01P077897

Summaries for NEXN Gene

Entrez Gene Summary for NEXN Gene

  • 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]

GeneCards Summary for NEXN Gene

NEXN (Nexilin F-Actin Binding Protein) is a Protein Coding gene. Diseases associated with NEXN include Cardiomyopathy, Familial Hypertrophic, 20 and Cardiomyopathy, Dilated, 1Cc. Gene Ontology (GO) annotations related to this gene include actin filament binding and calmodulin-dependent protein kinase activity. An important paralog of this gene is MYLK.

UniProtKB/Swiss-Prot Summary for NEXN Gene

  • Involved in regulating cell migration through association with the actin cytoskeleton. Has an essential role in the maintenance of Z line and sarcomere integrity.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NEXN Gene

Genomics for NEXN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NEXN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J077886 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 605.5 +0.9 944 5.1 ZNF221 TEAD4 PRDM10 ZNF629 ZNF512 IKZF1 KDM1A ZNF692 ZIC2 ZSCAN4 NEXN-AS1 NEXN NONHSAG001877.2 USP33 GIPC2 FUBP1 IFI44 DNAJB4
GH01J077918 Promoter 0.3 EPDnew 600.3 +29.6 29604 0.1 NEXN ENSG00000213560 RNU6-1102P MIGA1 RNA5SP21 ACTG1P21 RF00017-254 MN308952 NONHSAG001877.2 DNAJB4
GH01J077916 Promoter 0.3 EPDnew 600.3 +27.5 27524 0.1 RF00017-254 NEXN MN308952 NONHSAG001877.2 DNAJB4
GH01J077677 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.3 -207.1 -207106 7 BRCA1 ARHGAP35 HNRNPL GATAD2A CTCF PRDM10 ZNF629 TFE3 LEF1 IKZF1 ZZZ3 lnc-USP33-1 FUBP1 RPL17P6 ENSG00000273338 NEXN GIPC2 AK5 DNAJB4 lnc-MIGA1-3
GH01J078002 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 6.1 +118.4 118416 8.6 ARHGAP35 SP1 CREB1 PRDM10 REST ZNF629 RFX1 IKZF1 ZNF692 POLR2A DNAJB4 FUBP1 GIPC2 NEXN ENSG00000273338 lnc-DNAJB4-2 MN308953 lnc-DNAJB4-1 PTGFR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NEXN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NEXN

Top Transcription factor binding sites by QIAGEN in the NEXN gene promoter:
  • AML1a
  • AP-4
  • NF-1
  • NF-1/L
  • Nkx3-1
  • Nkx6-1
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c

Genomic Locations for NEXN Gene

Genomic Locations for NEXN Gene
chr1:77,888,513-77,948,643
(GRCh38/hg38)
Size:
60,131 bases
Orientation:
Plus strand
chr1:78,354,198-78,409,580
(GRCh37/hg19)
Size:
55,383 bases
Orientation:
Plus strand

Genomic View for NEXN Gene

Genes around NEXN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NEXN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NEXN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NEXN Gene

Proteins for NEXN Gene

  • Protein details for NEXN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q0ZGT2-NEXN_HUMAN
    Recommended name:
    Nexilin
    Protein Accession:
    Q0ZGT2
    Secondary Accessions:
    • A0PJ84
    • B4DPZ7
    • Q0D2H2
    • Q14CC2
    • Q14CC3
    • Q16081
    • Q7Z2X0
    • Q96DL0
    • Q9Y2V1

    Protein attributes for NEXN Gene

    Size:
    675 amino acids
    Molecular mass:
    80658 Da
    Quaternary structure:
    • Interacts with F-actin.
    SequenceCaution:
    • Sequence=AAH17827.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH55084.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH55084.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAI11396.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAI14445.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAI14446.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB71622.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for NEXN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NEXN Gene

Post-translational modifications for NEXN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NEXN Gene

Domains & Families for NEXN Gene

Gene Families for NEXN Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for NEXN Gene

InterPro:
Blocks:
  • Immunoglobulin I-set
ProtoNet:

Suggested Antigen Peptide Sequences for NEXN Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56379, highly similar to Mus musculus nexilin (Nexn), mRNA (B4DPZ7_HUMAN)
  • Nexilin (F actin binding protein), isoform CRA_b (D3DQ79_HUMAN)
  • Nelin (NEXN_HUMAN)
genes like me logo Genes that share domains with NEXN: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NEXN Gene

Function for NEXN Gene

Molecular function for NEXN Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for NEXN Gene

Gene Ontology (GO) - Molecular Function for NEXN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0008307 structural constituent of muscle IMP 19881492
GO:0051015 actin filament binding IDA 15823560
GO:0098632 cell-cell adhesion mediator activity IBA 21873635
genes like me logo Genes that share ontologies with NEXN: view
genes like me logo Genes that share phenotypes with NEXN: view

Human Phenotype Ontology for NEXN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NEXN Gene

MGI Knock Outs for NEXN:
  • Nexn Nexn<tm1.1Zhh>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NEXN

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for NEXN Gene

Localization for NEXN Gene

Subcellular locations from UniProtKB/Swiss-Prot for NEXN Gene

Cytoplasm, cytoskeleton. Cell junction, adherens junction. Cytoplasm, myofibril, sarcomere, Z line. Note=Localizes to the cell-matrix AJ. Not found at the cell-cell AJ. {ECO:0000250 UniProtKB:Q9Z2J4}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NEXN gene
Compartment Confidence
cytoskeleton 5
plasma membrane 4
nucleus 3
cytosol 3
extracellular 2
mitochondrion 2
golgi apparatus 2
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NEXN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IBA 21873635
GO:0005912 adherens junction IEA --
GO:0005925 focal adhesion HDA 21423176
genes like me logo Genes that share ontologies with NEXN: view

Pathways & Interactions for NEXN Gene

PathCards logo

SuperPathways for NEXN Gene

No Data Available

Gene Ontology (GO) - Biological Process for NEXN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IBA 21873635
GO:0007411 axon guidance IBA 21873635
GO:0009617 response to bacterium IEA --
GO:0030334 regulation of cell migration IDA 15823560
GO:0051493 regulation of cytoskeleton organization IEP 15823560
genes like me logo Genes that share ontologies with NEXN: view

No data available for Pathways by source and SIGNOR curated interactions for NEXN Gene

Drugs & Compounds for NEXN Gene

No Compound Related Data Available

Transcripts for NEXN Gene

mRNA/cDNA for NEXN Gene

2 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NEXN

Alternative Splicing Database (ASD) splice patterns (SP) for NEXN Gene

No ASD Table

Relevant External Links for NEXN Gene

GeneLoc Exon Structure for
NEXN

Expression for NEXN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NEXN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NEXN Gene

This gene is overexpressed in Muscle - Skeletal (x9.0), Heart - Left Ventricle (x7.6), and Heart - Atrial Appendage (x4.6).

Protein differential expression in normal tissues from HIPED for NEXN Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (37.7) and Peripheral blood mononuclear cells (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NEXN Gene



Protein tissue co-expression partners for NEXN Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NEXN

SOURCE GeneReport for Unigene cluster for NEXN Gene:

Hs.612385

mRNA Expression by UniProt/SwissProt for NEXN Gene:

Q0ZGT2-NEXN_HUMAN
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.

Evidence on tissue expression from TISSUES for NEXN Gene

  • Liver(4.4)
  • Heart(3.8)
  • Muscle(3.7)
  • Blood(3.1)
  • Kidney(2.5)
  • Nervous system(2.5)
  • Lung(2.3)
  • Spleen(2.3)
  • Intestine(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NEXN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • spinal cord
genes like me logo Genes that share expression patterns with NEXN: view

Orthologs for NEXN Gene

This gene was present in the common ancestor of chordates.

Orthologs for NEXN Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NEXN 30 31
  • 99.6 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NEXN 30 31
  • 93.21 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NEXN 30 31
  • 93.21 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Nexn 30 17 31
  • 87.55 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nexn 30
  • 86.76 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia NEXN 31
  • 83 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NEXN 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NEXN 30 31
  • 66.45 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NEXN 31
  • 79 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16131 30
Zebrafish
(Danio rerio)
Actinopterygii nexn 31
  • 52 (a)
OneToOne
Species where no ortholog for NEXN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NEXN Gene

ENSEMBL:
Gene Tree for NEXN (if available)
TreeFam:
Gene Tree for NEXN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NEXN: view image

Paralogs for NEXN Gene

Paralogs for NEXN Gene

(2) SIMAP similar genes for NEXN Gene using alignment to 6 proteins:

  • NEXN_HUMAN
  • D3DQ79_HUMAN
  • E7EQF0_HUMAN
  • E7ETM8_HUMAN
  • E7EUA0_HUMAN
  • H7BXY5_HUMAN
genes like me logo Genes that share paralogs with NEXN: view

Variants for NEXN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NEXN Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
641866 Uncertain Significance: Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 77,942,498(+) T/C MISSENSE_VARIANT
643060 Uncertain Significance: Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 77,917,672(+) G/T MISSENSE_VARIANT,INTRON_VARIANT
645036 Uncertain Significance: Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 77,926,885(+) G/A MISSENSE_VARIANT
649140 Uncertain Significance: Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 77,929,497(+) G/C MISSENSE_VARIANT
658474 Uncertain Significance: Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 77,942,809(+) A/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NEXN Gene

Structural Variations from Database of Genomic Variants (DGV) for NEXN Gene

Variant ID Type Subtype PubMed ID
nsv950196 CNV duplication 24416366

Variation tolerance for NEXN Gene

Residual Variation Intolerance Score: 10.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.95; 79.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NEXN Gene

Human Gene Mutation Database (HGMD)
NEXN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NEXN

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NEXN Gene

Disorders for NEXN Gene

MalaCards: The human disease database

(15) MalaCards diseases for NEXN Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cardiomyopathy, familial hypertrophic, 20
  • cmh20
cardiomyopathy, dilated, 1cc
  • cmd1cc
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
hypertrophic cardiomyopathy
  • familial hypertrophic cardiomyopathy
- elite association - COSMIC cancer census association via MalaCards
Search NEXN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NEXN_HUMAN
  • Cardiomyopathy, dilated 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. {ECO:0000269 PubMed:19881492}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, familial hypertrophic 20 (CMH20) [MIM:613876]: 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. {ECO:0000269 PubMed:20970104}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NEXN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with NEXN: view

No data available for Genatlas for NEXN Gene

Publications for NEXN Gene

  1. Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. (PMID: 19881492) Hassel D … Rottbauer W (Nature medicine 2009) 3 4 23
  2. NELIN, a new F-actin associated protein, stimulates HeLa cell migration and adhesion. (PMID: 15823560) Wang W … Hui R (Biochemical and biophysical research communications 2005) 3 4 23
  3. Molecular Cloning of NELIN, a Putative Human Cytoskeleton Regulation Gene. (PMID: 12053183) Zhao Y … Ding JF (Sheng wu hua xue yu sheng wu wu li xue bao Acta biochimica et biophysica Sinica 2001) 2 3 4
  4. Muscle autoantigens in thyroid associated ophthalmopathy: the limits of molecular genetics. (PMID: 8227983) Elisei R … Ludgate M (Journal of endocrinological investigation 1993) 2 3 4
  5. Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. (PMID: 20970104) Wang H … Fan Y (American journal of human genetics 2010) 3 4

Products for NEXN Gene

  • Signalway ELISA kits for NEXN

Sources for NEXN Gene