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

Gene ID: 91624, updated on 27-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
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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
  • 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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

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