NEXN - nexilin F-actin binding protein Gene

Also Known as CMH20; NELIN

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 91624

About NEXN

Cytogenetic location: 1p31.1 Genomic coordinates (GRCh38): 1:77,888,624-77,943,895 (from NCBI)

This gene has 8 transcripts (splice variants), 210 orthologues, 4 paralogues and is associated with 4 phenotypes. Broad expression in heart (RPKM 72.6), prostate (RPKM 22.2) and 20 other tissues.

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]

NEXN Products (2)

mRNA Protein Name
NM_001172309.2 NP_001165780.1 nexilin isoform 2
NM_144573.4 NP_653174.3 nexilin isoform 1
Molecular Function GO Annotation Evidence References Source
enables actin filament binding IDA
IDA: Inferred from direct assay
15823560 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables structural constituent of muscle IMP
IMP: Inferred from mutant phenotype
19881492 GOA
Biological Process GO Annotation Evidence References Source
involved in regulation of cell migration IDA
IDA: Inferred from direct assay
15823560 GOA
involved in regulation of cytoskeleton organization IEP
IEP: Inferred from expression pattern
15823560 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NEXN Protein Structure

I-set

I-set: Immunoglobulin I-set domain (582 - 671)

  • 0
  • 200
  • 400
  • 600
  • 675 a.a.
Protein Preferred Names Protein Names

nexilin

Related Diseases

Diseases Alias
Cardiomyopathy, Dilated, 1cc
  • CMD1CC

  • Dilated Cardiomyopathy 1cc

  • Cardiomyopathy, Dilated 1cc

  • Cardiomyopathy, Dilated, Type 1cc

Cardiomyopathy, Familial Hypertrophic, 20
  • Hypertrophic Cardiomyopathy 20

  • CMH20

  • Cardiomyopathy, Hypertrophic, 20

  • Cardiomyopathy Familial Hypertrophic 20

  • Cardiomyopathy, Familial Hypertrophic 20

  • Cardiomyopathy, Hypertrophic, Familial, Type 20

Familial Isolated Dilated Cardiomyopathy
  • Familial Or Idiopathic Dilated Cardiomyopathy

Dilated Cardiomyopathy
  • Familial Dilated Cardiomyopathy

  • Primary Dilated Cardiomyopathy

  • Idiopathic Dilated Cardiomyopathy

  • Congestive Cardiomyopathy

  • Idiopathic Dilation Cardiomyopathy

  • Primary Familial Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated

  • DCM

  • Cardiomyopathy, Familial Dilated

  • Dilated Cardiomyopathy, Familial

  • Hypokinetic Dilated Cardiomyopathy, Familial

  • Familial Idiopathic Cardiomyopathy

  • Fdc

  • Cardiomyopathy, Familial Idiopathic

  • Idiopathic Cardiomegaly

  • Dilated Congestive Cardiomyopathy

  • Chronic Dilated Cardiomyopathy

  • Ccm - [Congestive Cardiomyopathy]

  • Cocm - [Congestive Cardiomyopathy]

  • Dcm - [Dilated Cardiomyopathy]

  • Dilated-Hypokinetic Cardiomyopathy

  • Congestive Idiopathic Cardiomyopathy

  • Primary Idiopathic Dilated Cardiomyopathy

Cardiomyopathy, Dilated, 1e
  • Left Ventricular Noncompaction 9

  • Left Ventricular Noncompaction 5

  • Dilated Cardiomyopathy 1e

  • Dilated Cardiomyopathy 1s

  • CMD1E

  • Cdcd2

  • Cardiomyopathy, Dilated, 1y

  • CMD1Y

  • Cardiomyopathy, Dilated, 1s

  • CMD1S

  • Dilated Cardiomyopathy 1y

  • Dilated Cardiomyopathy With Conduction Defect 2

  • Dilated Cardiomyopathy With Conduction Disorder And Arrhythmia

  • Cardiomyopathy, Dilated, With Conduction Disorder And Arrhythmia

  • Cardiomyopathy, Dilated, With Conduction Defect 2

  • Cardiomyopathy Dilated With Conduction Defect Type 2

  • Cardiomyopathy, Dilated 1e

  • Cardiomyopathy, Dilated 1s

  • Cardiomyopathy, Dilated 1y

  • Left Ventricular Non-Compaction 5

  • LVNC5

  • Left Ventricular Non-Compaction 9

  • LVNC9

  • Cardiomyopathy, Dilated, Type 1e

  • Cardiomyopathy, Dilated, Type 1s

  • Cardiomyopathy, Dilated, Type 1y

Endocardial Fibroelastosis
  • Endomyocardial Fibroelastosis

  • Elastomyofibrosis

  • EFE

  • Efe - [Endocardial Fibroelastosis]

  • Primary Endocardial Fibroelastosis

  • Fibroelastosis Cordis

  • Fetal Endocarditis

  • Fibroelastosis

  • Congenital Endocardial Fibroelastosis

  • Congenital Valvular Endocarditis

Prolapse Of Urethra
  • Urethrocele

Aarskog-Scott Syndrome
  • Aarskog Syndrome

  • Faciogenital Dysplasia

  • Faciodigitogenital Syndrome

  • AAS

  • Fgdy

  • X-Linked Aarskog Syndrome

  • Intellectual Developmental Disorder, X-Linked, Syndromic 16

  • Aarskog Syndrome, X-Linked

  • Intellectual Developmental Disorder, X-Linked Syndromic 16

  • Greig'S Syndrome

  • Aarskog Scott Syndrome

  • Aarskog Disease

  • Scott Aarskog Syndrome

  • Facio-Digito-Genital Dysplasia

  • Faciogenital Dysplasia With Attention Deficit-Hyperactivity Disorder

  • Aarskog-Scott Syndrome ) Syndrome

Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
  • Orofacial Cleft 7

  • Zlotogora-Ogur Syndrome

  • CLPED1

  • Ectodermal Dysplasia, Margarita Island Type

  • Ed4

  • Cleft Lip-Palate-Ectodermal Dysplasia Syndrome

  • Cleft Lip/Palate-Syndactyly-Pili Torti Syndrome

  • Syndactyly-Ectodermal Dysplasia-Cleft/Lip Palate

  • Ectodermal Dysplasia 4

  • Ectodermal Dysplasia Margarita Type

  • Ectodermal Dysplasia, Type 4

  • Ectodermal Dysplasia, Cleft Lip And Palate, Mental Retardation, And Syndactyly

  • Margarita Type Of Ectodermal Dysplasia

  • Zlotogora-Zilberman-Tenenbaum Syndrome

  • Ectd4

  • Ectodermal Dysplasia 4, Hair/Nail Type

  • EDMI

  • Ectodermal Dysplasia Type 4

  • Margarita Island Ectodermal Dysplasia

  • Syndactyly-Ectodermal Dysplasia-Cleft Lip/Palate

  • Non-Syndromic Orofacial Cleft 7

  • OFC7

  • Non-Syndromic Cleft Lip/Palate 7

  • Non-Syndromic Cleft Lip With Or Without Cleft Palate 7

Clivus Chordoma
  • Chordoma Of Clivus

Cardiomyopathy, Familial Hypertrophic, 1
  • Asymmetric Septal Hypertrophy

  • Familial Hypertrophic Cardiomyopathy

  • Hypertrophic Cardiomyopathy 1

  • CMH1

  • Hypertrophic Cardiomyopathy 19

  • CMH

  • Ventricular Hypertrophy, Hereditary

  • Ash

  • Hypertrophic Subaortic Stenosis, Idiopathic

  • Cardiomyopathy, Familial Hypertrophic

  • Cardiomyopathy, Hypertrophic, 1, Digenic

  • Cardiomyopathy, Familial Hypertrophic 1

  • Hcm

  • Hereditary Ventricular Hypertrophy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Hypertrophic Cardiomyopathy

  • Cardiomyopathy, Hypertrophic, Familial

  • Cardiomyopathy, Hypertrophic, 1

  • Familial Asymmetric Septal Hypertrophy

  • Heritable Hypertrophic Cardiomyopathy

  • Fhc

  • Cardiomyopathy, Hypertrophic, Familial, Type 1

Left Ventricular Noncompaction
  • Noncompaction Cardiomyopathy

  • Left Ventricular Hypertrabeculation

  • Lvnc

  • Spongy Myocardium

  • Isolated Noncompaction Of The Ventricular Myocardium

  • Left Ventricular Myocardial Noncompaction Cardiomyopathy

  • Fetal Myocardium

  • Honeycomb Myocardium

  • Hypertrabeculation Syndrome

  • Left Ventricular Non-Compaction

  • Lvht

  • Non-Compaction Of The Left Ventricular Myocardium

  • Ventricular Noncompaction, Left

  • Non-Compaction Cardiomyopathy

Hypertrophic Cardiomyopathy
  • Hypertrophic Obstructive Cardiomyopathy

  • Cardiomyopathy, Hypertrophic

  • Cardiomyopathy Hypertrophic Obstructive

  • Cardiomyopathy, Hypertrophic, Familial

  • Idiopathic Myocardial Hypertrophy

  • Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Cardiomyopathy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Muscular Subaortic Stenosis

  • Hypertrophic Obstructive Subaortic Stenosis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus NEXN VGNC VGNC:32025
Rattus norvegicus NEXN RGD RGD:708354
Felis catus NEXN VGNC VGNC:63787
Macaca mulatta NEXN VGNC VGNC:75275
Canis familiaris NEXN VGNC VGNC:43760
Mus musculus NEXN MGD MGI:1916060
Others NEXN NCBI