Human Gene NEXN (ENST00000334785.12_5) from GENCODE V47lift37
  Description: nexilin F-actin binding protein, transcript variant 1 (from RefSeq NM_144573.4)
Gencode Transcript: ENST00000334785.12_5
Gencode Gene: ENSG00000162614.19_11
Transcript (Including UTRs)
   Position: hg19 chr1:78,354,309-78,409,580 Size: 55,272 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr1:78,381,792-78,408,514 Size: 26,723 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:78,354,309-78,409,580)mRNA (may differ from genome)Protein (675 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NEXN_HUMAN
DESCRIPTION: RecName: Full=Nexilin; AltName: Full=F-actin-binding protein; AltName: Full=Nelin;
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.
SUBUNIT: Interacts with F-actin.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (By similarity). Cell junction, adherens junction (By similarity). Cytoplasm, myofibril, sarcomere, Z line (By similarity). Note=Localizes to the cell-matrix AJ. Not found at the cell-cell AJ (By similarity).
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.
DISEASE: Defects in NEXN are the cause of cardiomyopathy dilated type 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.
DISEASE: Defects in NEXN are the cause of familial hypertrophic cardiomyopathy type 20 (CMH20) [MIM:613876]. CMH20 is 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.
SIMILARITY: Contains 1 Ig-like (immunoglobulin-like) domain.
SEQUENCE CAUTION: Sequence=AAH17827.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH55084.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH55084.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAI11396.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI14445.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI14446.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB71622.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NEXN
Diseases sorted by gene-association score: cardiomyopathy, dilated, 1cc* (1229), cardiomyopathy, hypertrophic, 20* (1200), nexn-related dilated cardiomyopathy* (500), nexn-related familial hypertrophic cardiomyopathy* (100), familial isolated dilated cardiomyopathy* (76), cardiomyopathy (6), cardiomyopathy, familial hypertrophic (5), dilated cardiomyopathy (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 110.91 RPKM in Muscle - Skeletal
Total median expression: 997.29 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -48.20188-0.256 Picture PostScript Text
3' UTR -217.401066-0.204 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR013098 - Ig_I-set
IPR003599 - Ig_sub
IPR020675 - Myosin_light_ch_kinase-rel
IPR020678 - Nexilin

Pfam Domains:
PF00047 - Immunoglobulin domain
PF07679 - Immunoglobulin I-set domain
PF13927 - Immunoglobulin domain

SCOP Domains:
48726 - Immunoglobulin

ModBase Predicted Comparative 3D Structure on Q0ZGT2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0008307 structural constituent of muscle
GO:0051015 actin filament binding

Biological Process:
GO:0030334 regulation of cell migration
GO:0048739 cardiac muscle fiber development
GO:0051493 regulation of cytoskeleton organization

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005912 adherens junction
GO:0005925 focal adhesion
GO:0030018 Z disc
GO:0030054 cell junction


-  Descriptions from all associated GenBank mRNAs
  AK298565 - Homo sapiens cDNA FLJ56379 complete cds, highly similar to Mus musculus nexilin (Nexn), mRNA.
AK300728 - Homo sapiens cDNA FLJ56909 complete cds, highly similar to Rattus norvegicus nexilin (Nexn), transcript variant s, mRNA.
AK307487 - Homo sapiens cDNA, FLJ97435.
CR936630 - Homo sapiens mRNA; cDNA DKFZp686A0568 (from clone DKFZp686A0568).
BX648546 - Homo sapiens mRNA; cDNA DKFZp779G1655 (from clone DKFZp779G1655).
DQ464902 - Homo sapiens nexilin (NEXN) mRNA, complete cds.
AF176780 - Homo sapiens MSTP128 mRNA, complete cds.
AY211912 - Homo sapiens sarcoma antigen NY-SAR-22 mRNA, partial cds.
BC055084 - Homo sapiens nexilin (F actin binding protein), mRNA (cDNA clone IMAGE:4290001), partial cds.
BC111395 - Homo sapiens nexilin (F actin binding protein), mRNA (cDNA clone MGC:104234 IMAGE:4271572), complete cds.
AK057954 - Homo sapiens cDNA FLJ25225 fis, clone STM00940, highly similar to Rattus norvegicus s-nexilin mRNA.
BC114444 - Homo sapiens nexilin (F actin binding protein), mRNA (cDNA clone MGC:138865 IMAGE:40083839), complete cds.
BC114445 - Homo sapiens nexilin (F actin binding protein), mRNA (cDNA clone MGC:138866 IMAGE:40083847), complete cds.
AF114264 - Homo sapiens clone HH409 unknown mRNA.
JD486480 - Sequence 467504 from Patent EP1572962.
JD225068 - Sequence 206092 from Patent EP1572962.
S67069 - autoantigen [human, thyroid associated ophthalmopathy patient, mRNA Partial Mutant, 1041 nt].
KJ903571 - Synthetic construct Homo sapiens clone ccsbBroadEn_12965 NEXN gene, encodes complete protein.
KJ903572 - Synthetic construct Homo sapiens clone ccsbBroadEn_12966 NEXN gene, encodes complete protein.
BC017827 - Homo sapiens nexilin (F actin binding protein), mRNA (cDNA clone IMAGE:4338484), partial cds.
AK293201 - Homo sapiens cDNA FLJ55951 complete cds, highly similar to Homo sapiens nexilin (F actin binding protein) (NEXN), mRNA.
AK127535 - Homo sapiens cDNA FLJ45628 fis, clone CERVX2000968, highly similar to Rattus norvegicus F-actin binding protein b-Nexilin.
JD357086 - Sequence 338110 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A0PJ84, B4DPZ7, ENST00000334785.1, ENST00000334785.10, ENST00000334785.11, ENST00000334785.2, ENST00000334785.3, ENST00000334785.4, ENST00000334785.5, ENST00000334785.6, ENST00000334785.7, ENST00000334785.8, ENST00000334785.9, NEXN , NEXN_HUMAN, NM_144573, Q0D2H2, Q0ZGT2, Q14CC2, Q14CC3, Q16081, Q7Z2X0, Q96DL0, Q9Y2V1, uc317ubv.1, uc317ubv.2
UCSC ID: ENST00000334785.12_5
RefSeq Accession: NM_144573.4
Protein: Q0ZGT2 (aka NEXN_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene NEXN:
dcm-ov (Dilated Cardiomyopathy Overview)
hyper-card (Hypertrophic Cardiomyopathy Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.