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    NEXN nexilin F-actin binding protein [ Homo sapiens (human) ]

    Gene ID: 91624, updated on 3-Nov-2024

    Summary

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    Official Symbol
    NEXNprovided by HGNC
    Official Full Name
    nexilin F-actin binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:29557
    See related
    Ensembl:ENSG00000162614 MIM:613121; AllianceGenome:HGNC:29557
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CMH20; NELIN
    Summary
    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]
    Expression
    Broad expression in heart (RPKM 72.6), prostate (RPKM 22.2) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NEXN in Genome Data Viewer
    Location:
    1p31.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (77888624..77943895)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (77727428..77782694)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (78354309..78409580)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene mitoguardin 1 Neighboring gene nuclear speckle splicing regulatory protein 1 pseudogene 1 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 25 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:78336231-78337101 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1005 Neighboring gene NEXN antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:78374978-78375131 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:78383688-78384887 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1006 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:78431300-78431502 Neighboring gene far upstream element binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1227 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1228 Neighboring gene DnaJ heat shock protein family (Hsp40) member B4 Neighboring gene nitrilase family member 2 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis. Hermida A, et al. Circ Genom Precis Med, 2024 Feb. PMID 38059363
    2. Molecular Cloning of NELIN, a Putative Human Cytoskeleton Regulation Gene. Zhao Y, et al. Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao (Shanghai), 2001. PMID 12053183
    3. Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. Wang H, et al. Am J Hum Genet, 2010 Nov 12. PMID 20970104, Free PMC Article
    4. Nexilin is a dynamic component of Listeria monocytogenes and enteropathogenic Escherichia coli actin-rich structures. Law HT, et al. Cell Microbiol, 2012 Jul. PMID 22381134
    5. NEXN is a novel susceptibility gene for coronary artery disease in Han Chinese. Wu C, et al. PLoS One, 2013. PMID 24349201, Free PMC Article

    See all (68) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.
      Title: NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.
    2. Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.
      Title: Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.
    3. Childhood onset nexilin dilated cardiomyopathy: A heterozygous and a homozygous case.
      Title: Childhood onset nexilin dilated cardiomyopathy: A heterozygous and a homozygous case.
    4. In this study, we explored the potential of whole genome sequencing (WGS) and whole transcriptome sequencing (WTS) to find DNA variants in SCD victims with structural normal hearts. We identified 23 candidate variants in regulatory sequences of cardiac genes, including a variant in the promotor region of NEXN, c.-194A>G, that was found to be statistically significantly.
      Title: Whole genome and transcriptome sequencing of post-mortem cardiac tissues from sudden cardiac death victims identifies a gene regulatory variant in NEXN.
    5. Long noncoding RNA NEXN-AS1 mitigates atherosclerosis by regulating the actin-binding protein NEXN.
      Title: Long noncoding RNA NEXN-AS1 mitigates atherosclerosis by regulating the actin-binding protein NEXN.
    6. NEXN targeting by actin-controlled coactivators thus amplifies smooth muscle cell differentiation through the actin cytoskeleton, probably via dense bodies and dense bands.
      Title: Nexilin/NEXN controls actin polymerization in smooth muscle and is regulated by myocardin family coactivators and YAP.
    7. NELINinduced phenotypic transformation of human vascular smooth muscle cell was regulated via the RhoA/SRF signaling pathway.
      Title: Regulatory mechanism of human vascular smooth muscle cell phenotypic transformation induced by NELIN.
    8. NEXN as a novel gene for ASD and its function to inhibit GATA4 established a critical regulation of an F-actin binding protein on a transcription factor in cardiac development
      Title: NEXN inhibits GATA4 and leads to atrial septal defects in mice and humans.
    9. This is the first study to identify NEXN as a novel coronary artery disease susceptibility gene with both genetic and functional evidence.
      Title: NEXN is a novel susceptibility gene for coronary artery disease in Han Chinese.
    10. Nexilin is a component of the machinery that drives the formation of Listeria monocytogenes comet tails and enteropathogenic Escherichia coli pedestals.
      Title: Nexilin is a dynamic component of Listeria monocytogenes and enteropathogenic Escherichia coli actin-rich structures.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Dilated cardiomyopathy 1CC
    MedGen: C2751084 OMIM: 613122 GeneReviews: Dilated Cardiomyopathy Overview
    		not available
    Hypertrophic cardiomyopathy 20
    MedGen: C3151267 OMIM: 613876 GeneReviews: Hypertrophic Cardiomyopathy Overview
    		not available
    Primary dilated cardiomyopathy
    MedGen: C0007193 GeneReviews: Dilated Cardiomyopathy Overview
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC104234, MGC138865, MGC138866

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cell-cell adhesion mediator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of muscle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in dendrite self-avoidance IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of cytoskeleton organization IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Z disc ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    located_in adherens junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in focal adhesion HDA PubMed 
    is_active_in focal adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    nexilin

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016625.1 RefSeqGene

      Range
      5001..60381
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_442

    mRNA and Protein(s)

    1. NM_001172309.2 → NP_001165780.1  nexilin isoform 2

      See identical proteins and their annotated locations for NP_001165780.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AK293201, AK298565, BQ009808, DQ464902
      Consensus CDS
      CCDS53335.1
      UniProtKB/TrEMBL
      H7BXY5
      Related
      ENSP00000327363.8, ENST00000330010.12
      Conserved Domains (2) summary
      cd00096
      Location:535 → 602
      Ig; Immunoglobulin domain
      pfam07679
      Location:518 → 607
      I-set; Immunoglobulin I-set domain

    2. NM_144573.4 → NP_653174.3  nexilin isoform 1

      See identical proteins and their annotated locations for NP_653174.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF114264, BQ009808, DC412178, DQ464902
      Consensus CDS
      CCDS41351.1
      UniProtKB/Swiss-Prot
      A0PJ84, B4DPZ7, Q0D2H2, Q0ZGT2, Q14CC2, Q14CC3, Q16081, Q7Z2X0, Q96DL0, Q9Y2V1
      UniProtKB/TrEMBL
      H7BXY5
      Related
      ENSP00000333938.7, ENST00000334785.12
      Conserved Domains (2) summary
      cd00096
      Location:599 → 666
      Ig; Immunoglobulin domain
      pfam07679
      Location:582 → 671
      I-set; Immunoglobulin I-set domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      77888624..77943895
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005271322.5 → XP_005271379.1  nexilin isoform X1

      UniProtKB/TrEMBL
      H7BXY5
      Conserved Domains (2) summary
      cd00096
      Location:599 → 666
      Ig; Immunoglobulin domain
      pfam07679
      Location:582 → 671
      I-set; Immunoglobulin I-set domain

    2. XM_005271325.5 → XP_005271382.1  nexilin isoform X4

      UniProtKB/TrEMBL
      H7BXY5
      Conserved Domains (2) summary
      cd00096
      Location:525 → 592
      Ig; Immunoglobulin domain
      pfam07679
      Location:508 → 597
      I-set; Immunoglobulin I-set domain

    3. XM_005271323.5 → XP_005271380.1  nexilin isoform X2

      See identical proteins and their annotated locations for XP_005271380.1

      UniProtKB/TrEMBL
      H7BXY5
      Conserved Domains (2) summary
      cd00096
      Location:585 → 652
      Ig; Immunoglobulin domain
      pfam07679
      Location:568 → 657
      I-set; Immunoglobulin I-set domain

    4. XM_005271327.5 → XP_005271384.1  nexilin isoform X5

      Conserved Domains (2) summary
      cd00096
      Location:460 → 527
      Ig; Immunoglobulin domain
      pfam07679
      Location:443 → 532
      I-set; Immunoglobulin I-set domain

    5. XM_005271324.6 → XP_005271381.1  nexilin isoform X3

      See identical proteins and their annotated locations for XP_005271381.1

      UniProtKB/TrEMBL
      H7BXY5
      Related
      ENSP00000343928.5, ENST00000342754.5
      Conserved Domains (2) summary
      cd00096
      Location:535 → 602
      Ig; Immunoglobulin domain
      pfam07679
      Location:518 → 607
      I-set; Immunoglobulin I-set domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      77727428..77782694
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339592.1 → XP_054195567.1  nexilin isoform X1

    2. XM_054339595.1 → XP_054195570.1  nexilin isoform X4

    3. XM_054339593.1 → XP_054195568.1  nexilin isoform X2

    4. XM_054339596.1 → XP_054195571.1  nexilin isoform X5

    5. XM_054339594.1 → XP_054195569.1  nexilin isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q0ZGT2.1 GenPept UniProtKB/Swiss-Prot:Q0ZGT2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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