1. Gene
  2. NEXN - nexilin F-actin binding protein Gene

NEXN - nexilin F-actin binding protein Gene

中文名称:nexilin F-肌动蛋白结合蛋白

种属: Homo sapiens

同用名: CMH20; NELIN

基因 ID: 91624 | 基因类型: protein coding

关于 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.

功能概要

该基因编码可能在细胞粘附和迁移中起作用的丝状肌动蛋白结合蛋白。该基因的突变与扩张型心肌病 (也称为 CMD1CC) 有关。已经描述了选择性剪接的转录变体。[RefSeq 提供,2010 年 2 月]

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 基因产物(2)

mRNA Protein Name
NM_001172309.2 NP_001165780.1 nexilin isoform 2
NM_144573.4 NP_653174.3 nexilin isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables actin filament binding IDA
IDA: 通过直接分析推断
15823560 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables structural constituent of muscle IMP
IMP: 通过突变表型推断
19881492 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of cell migration IDA
IDA: 通过直接分析推断
15823560 GOA
involved in regulation of cytoskeleton organization IEP
IEP: 通过表达模式推断
15823560 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

NEXN 蛋白结构

I-set

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

  • 0
  • 200
  • 400
  • 600
  • 675 a.a.
蛋白主名 其他名称

nexilin

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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