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Aliases for NEXN Gene

Aliases for NEXN Gene

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

External Ids for NEXN Gene

Previous GeneCards Identifiers for NEXN Gene

  • GC01P077776
  • GC01P077804
  • GC01P078066
  • GC01P078126
  • GC01P078354
  • GC01P076485
  • GC01P077890
  • GC01P077891

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, dilated, 1cc and cardiomyopathy, hypertrophic, 20. GO annotations related to this gene include actin filament binding and calmodulin-dependent protein kinase activity.

UniProtKB/Swiss-Prot 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NEXN Gene

Genomics for NEXN Gene

Regulatory Elements for NEXN Gene

Promoters for NEXN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NEXN on UCSC Golden Path with GeneCards custom track

Genomic Location for NEXN Gene

Chromosome:
1
Start:
77,888,513 bp from pter
End:
77,948,643 bp from pter
Size:
60,131 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

Proteomics data for NEXN Gene at MOPED

Post-translational modifications for NEXN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NEXN Gene

No data available for DME Specific Peptides for NEXN Gene

Domains & Families for NEXN Gene

Gene Families for NEXN Gene

Protein Domains for NEXN Gene

Graphical View of Domain Structure for InterPro Entry

Q0ZGT2

UniProtKB/Swiss-Prot:

NEXN_HUMAN :
  • Contains 1 Ig-like (immunoglobulin-like) domain.
Domain:
  • Contains 1 Ig-like (immunoglobulin-like) domain.
genes like me logo Genes that share domains with NEXN: view

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.

Gene Ontology (GO) - Molecular Function for NEXN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051015 actin filament binding IDA 15823560
genes like me logo Genes that share ontologies with NEXN: view

Phenotypes for NEXN Gene

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 Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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
Jensen Localization Image for NEXN Gene COMPARTMENTS Subcellular localization image for NEXN gene
Compartment Confidence
cytoskeleton 3
cytosol 3
nucleus 2
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for NEXN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005925 focal adhesion IDA 21423176
genes like me logo Genes that share ontologies with NEXN: view

Pathways & Interactions for NEXN Gene

SuperPathways for NEXN Gene

No Data Available

Gene Ontology (GO) - Biological Process for NEXN Gene

None

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

Unigene Clusters for NEXN Gene

Nexilin (F actin binding protein):
Representative Sequences:

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 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, PaxDb, MOPED, and MaxQB for NEXN Gene



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.
genes like me logo Genes that share expression patterns with NEXN: view

Protein tissue co-expression partners for NEXN Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for NEXN Gene

This gene was present in the common ancestor of chordates.

Orthologs for NEXN Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NEXN 35
  • 93.21 (n)
  • 93.76 (a)
NEXN 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NEXN 35
  • 93.21 (n)
  • 95.1 (a)
NEXN 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nexn 35
  • 87.55 (n)
  • 88.78 (a)
Nexn 16
Nexn 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NEXN 35
  • 99.6 (n)
  • 99.11 (a)
NEXN 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nexn 35
  • 86.76 (n)
  • 86.96 (a)
oppossum
(Monodelphis domestica)
Mammalia NEXN 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NEXN 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves NEXN 35
  • 66.45 (n)
  • 62.32 (a)
NEXN 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NEXN 36
  • 79 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16131 35
zebrafish
(Danio rerio)
Actinopterygii nexn 36
  • 52 (a)
OneToOne
Species with no ortholog for NEXN:
  • 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)

Paralogs for NEXN Gene

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

genes like me logo Genes that share paralogs with NEXN: view

No data available for Paralogs for NEXN Gene

Variants for NEXN Gene

Sequence variations from dbSNP and Humsavar for NEXN Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1166698 - 77,926,761(+) CTCCC(A/G)GAAAA intron-variant, reference, missense
rs9660322 - 77,929,455(+) cagaa(A/G)gagaa reference, missense
VAR_063009 Cardiomyopathy, dilated 1CC (CMD1CC)
VAR_063011 Cardiomyopathy, dilated 1CC (CMD1CC)
VAR_065477 Cardiomyopathy, familial hypertrophic 20 (CMH20)

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)

Relevant External Links for NEXN Gene

HapMap Linkage Disequilibrium report
NEXN
Human Gene Mutation Database (HGMD)
NEXN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NEXN Gene

Disorders for NEXN Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
cardiomyopathy, dilated, 1cc
  • cmd1cc
cardiomyopathy, hypertrophic, 20
  • cardiomyopathy, familial hypertrophic, 20
nexn-related dilated cardiomyopathy
  • cardiomyopathy, dilated, 1cc
nexn-related familial hypertrophic cardiomyopathy
acute pulmonary heart disease
  • acute pulmonary heart disease nos
- 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.

Relevant External Links for NEXN

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

No data available for Genatlas for NEXN Gene

Publications for NEXN Gene

  1. Molecular cloning of NELIN, a putative human cytoskeleton regulation gene. (PMID: 12053183) Zhao Y. … Ding J.-F. (Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao 2001) 2 3 4 67
  2. Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. (PMID: 19881492) Hassel D. … Rottbauer W. (Nat. Med. 2009) 3 23
  3. NELIN, a new F-actin associated protein, stimulates HeLa cell migration and adhesion. (PMID: 15823560) Wang W. … Hui R. (Biochem. Biophys. Res. Commun. 2005) 3 23
  4. Muscle autoantigens in thyroid associated ophthalmopathy: the limits of molecular genetics. (PMID: 8227983) Elisei R. … Ludgate M. (J. Endocrinol. Invest. 1993) 2 3
  5. Role of the focal adhesion protein TRIM15 in colon cancer development. (PMID: 25450970) Lee O.H. … Choi Y. (Biochim. Biophys. Acta 2015) 3

Products for NEXN Gene

Sources for NEXN Gene

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