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

External Ids for NEXN Gene

Previous GeneCards Identifiers for NEXN Gene

  • GC01P077776
  • GC01P077804
  • GC01P078066
  • GC01P078126
  • GC01P078354
  • GC01P076485
  • GC01P077890
  • GC01P077891
  • GC01P077901
  • GC01P077903
  • GC01P077892
  • GC01P077894
  • GC01P077895
  • GC01P077896
  • GC01P077897
  • GC01P077898
  • GC01P077899

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.

Additional gene information for NEXN Gene

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 for NEXN Gene

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 755.5 +0.9 944 5.1 MIXL1 ZNF121 HDGF SP1 ZNF148 RERE AHR SP7 ZSCAN21 ZNF644 NEXN-AS1 NEXN NONHSAG001877.2 GIPC2 FUBP1 IFI44
GH01J077918 Promoter 0.3 EPDnew 750.3 +29.6 29604 0.1 NEXN RNU6-1102P LOC100422537 RNA5SP21 MIGA1 ACTG1P21 RF00017-254 NONHSAG001877.2 lnc-FUBP1-2
GH01J077916 Promoter 0.3 EPDnew 750.3 +27.5 27524 0.1 RF00017-254 NEXN NONHSAG001877.2 lnc-FUBP1-2
GH01J077762 Enhancer 1 Ensembl ENCODE 25.3 -126.4 -126412 1 ZBTB6 SMARCE1 CREB1 DACH1 TEAD4 GTF2F1 BACH1 SP7 PRDM1 SMARCA4 NEXN ENSG00000219201 ZZZ3 ENSG00000226084 PTGFR ENSG00000273338 USP33 ACTG1P21
GH01J077677 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.3 -207.1 -207106 7 FOXK2 ZNF785 SIN3A ZNF24 ZBTB40 CTCF MLX RBPJ POLR2A USF2 ZZZ3 lnc-USP33-1 FUBP1 ENSG00000226084 NSRP1P1 ENSG00000273338 NEXN MIGA1 GIPC2 AK5
- 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 UCSC Golden Path with GeneCards custom track

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=Translation N-terminally extended.; 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=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI14445.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI14446.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB71622.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; 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

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: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

Clone Products

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
plasma membrane 4
cytoskeleton 4
nucleus 2
cytosol 2
mitochondrion 1
endosome 1
golgi apparatus 1

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NEXN Gene

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

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

No ASD Table

Relevant External Links for NEXN Gene

GeneLoc Exon Structure for
NEXN
ECgene alternative splicing isoforms for
NEXN

Expression for NEXN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of NEXN Gene:

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(4.2)
  • Heart(3.5)
  • Muscle(3.5)
  • Blood(2.6)
  • Nervous system(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 33 32
  • 99.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NEXN 33 32
  • 93.21 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NEXN 33 32
  • 93.21 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nexn 17 33 32
  • 87.55 (n)
rat
(Rattus norvegicus)
Mammalia Nexn 32
  • 86.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NEXN 33
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NEXN 33
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves NEXN 33 32
  • 66.45 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NEXN 33
  • 79 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16131 32
zebrafish
(Danio rerio)
Actinopterygii nexn 33
  • 52 (a)
OneToOne
Species where no ortholog for NEXN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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 from dbSNP and Humsavar for NEXN Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1002648603 uncertain-significance, Cardiovascular phenotype 77,926,812(+) C/A/T coding_sequence_variant, intron_variant, stop_gained, synonymous_variant
rs1060499571 uncertain-significance, Dilated cardiomyopathy 1CC, Familial hypertrophic cardiomyopathy 20 77,942,488(+) G/T coding_sequence_variant, missense_variant
rs1060502321 uncertain-significance, Dilated cardiomyopathy 1CC, Familial hypertrophic cardiomyopathy 20 77,942,653(+) G/A coding_sequence_variant, missense_variant
rs1060504549 likely-benign, Dilated cardiomyopathy 1CC, Familial hypertrophic cardiomyopathy 20 77,933,311(+) T/C coding_sequence_variant, synonymous_variant
rs11558429 uncertain-significance, Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 77,943,108(+) G/A 3_prime_UTR_variant

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

(7) MalaCards diseases for NEXN Gene - From: HGMD, 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
  • cardiomyopathy, hypertrophic, familial
- 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
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 56
  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 56
  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 56
  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 56
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 43 56

Products for NEXN Gene

Sources for NEXN Gene