1. Gene
  2. NKX2-6 - NK2 homeobox 6 Gene

NKX2-6 - NK2 homeobox 6 Gene

中文名称:NK2 同源框 6

种属: Homo sapiens

同用名: CSX2; CTHM; NKX2F; NKX4-2

基因 ID: 137814 | 基因类型: protein coding

关于 NKX2-6

Cytogenetic location: 8p21.2 Genomic coordinates (GRCh38): 8:23,701,740-23,706,756 (from NCBI)

This gene has 1 transcript (splice variant), 114 orthologues, 13 paralogues and is associated with 5 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码属于 NK-2 同源框家族的含有同源框的蛋白质。这种蛋白质是一种名为“tinman”的含有果蝇同源框蛋白质的脊椎动物同系物,已被证明对于心样背侧血管的发育至关重要。结合相关基因 NKX2-5,该基因可能在咽和心脏胚胎发育中发挥作用。该基因的突变与持续性动脉干有关。[RefSeq 提供,2011 年 8 月]

This gene encodes a homeobox-containing protein that belongs to the NK-2 homeobox family. This protein is a vertebrate homolog of Drosophila homeobox-containing protein called 'tinman', which has been shown to be essential for development of the heart-like dorsal vessel. In conjunction with related gene, NKX2-5, this gene may play a role in both pharyngeal and cardiac embryonic development. Mutations in this gene are associated with persistent truncus arteriosus.[provided by RefSeq, Aug 2011]

NKX2-6 基因产物(1)

mRNA Protein Name
NM_001136271.3 NP_001129743.2 homeobox protein Nkx-2.6

NKX2-6 蛋白结构

Homeobox

Homeobox: Homeobox domain (133 - 189)

  • 0
  • 100
  • 200
  • 301 a.a.
蛋白主名 其他名称

homeobox protein Nkx-2.6

NK2 transcription factor related, locus 6

关联疾病

疾病名称 别名
Conotruncal Heart Malformations

Persistent Truncus Arteriosus

Conotruncal Anomaly Face Syndrome

Truncus Arteriosus

Common Arterial Trunk

CTHM

Conotruncal Heart Malformations, Variable

Tac

Truncus Arteriosus Communis

Conotruncal Cardiac Defects

Common Aorticopulmonary Trunk

Cafs

Conotruncal Heart Defects

Cthd

Dorv

Double-Outlet Right Ventricle

Pta

Heart Malformations, Conotruncal

Common Truncus

Common Truncus Arteriosus

Persistent Truncus Arteriosus Or Communis

Truncus Communis

Common Aortico-Pulmonary Trunk

Truncus Arteriosus With Aortic Dominance

Truncus Arteriosus With No Aortic Obstruction

Truncus Arteriosus With Pulmonary Dominance And Interrupted Aortic Arch

Truncus Arteriosus With Interrupted Aortic Arch

Common Arterial Trunk With Interrupted Aortic Arch

Van Praagh Truncus Arteriosus Type A4

Familial Atrial Fibrillation

Atrial Fibrillation, Familial

Atfb

Atrial Fibrillation Autosomal Dominant

Autosomal Dominant Atrial Fibrillation

Auricular Fibrillation

Atrial Fibrillation

Atrial Fibrillation, Familial, 1

Tetralogy Of Fallot

TOF

Fallot Tetralogy

Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

Tetrad Of Fallot

Fallot Tetrad

Fallot Disease

Fallot Complex

Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

Interventricular Septal Defect, In Tetralogy Of Fallot

Ventricular Septal Defect With Obstructed Right Ventricular Outflow

Tof - [Tetralogy Of Fallot]

Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

Pulmonary Atresia, Ventricular Septal Defect And Mapcas

Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed

Thyroid Malformation
Double Outlet Right Ventricle

Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect

Taussig-Bing Syndrome

Dextrotransposition Of Aorta

Taussig-Bing Syndrome Or Defect

Dorv

Dorv With Subpulmonary Vsd

Dorv-Tga

Double Outlet Right Ventricle With Transposition Of The Great Arteries

Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type

Taussig-Bing Heart

Taussig-Bing Malformation

Taussig-Bing Complex

Taussig-Bing Defect

Taussig-Bing

Double Outlet Right Ventricle With Remote Ventricular Septal Defect

Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect

Double Outlet Right Ventricle With Non-Committed Interventricular Communication

Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis

Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis

Lissencephaly, X-Linked, 1

Lissencephaly Type 1 Due To Doublecortin Gene Mutation

Xlis

Lissencephaly, X-Linked

LISX1

Lissencephaly And Agenesis Of Corpus Callosum

Subcortical Laminal Heterotopia, X-Linked

X-Linked Lissencephaly 1

X-Linked Lissencephaly

Double Cortex

Xlis1

Lissencephaly X-Linked

Lisx

X-Linked Lissencephaly Type 1

Lissencephaly, X-Linked 1

Subcortical Band Heterotopia X-Linked

SBHX

Sclh

Subcortical Laminar Heterotopia

Lissencephaly, X-Linked, Type 1

Subcortical Band Heterotopia

Joubert Syndrome 4

JBTS4

Joubert Syndrome With Renal Defect

Joubert Syndrome With Renal Anomalies

Js-R

Joubert Syndrome, Type 4

Spastic Hemiplegia

Spastic Hemiplegic Cerebral Palsy

Hemiplegic Cerebral Palsy

Congenital Hemiplegia

Hemiplegic Infantile Cerebral Palsy

Cerebral Palsy Spastic Hemiplegic

Spastic Hemiplegia Cerebral Palsy

Hemiplegia, Spastic

Transposition Of The Great Arteries, Dextro-Looped

Transposition Of The Great Arteries

DTGA1

Dextro-Looped Transposition Of The Great Arteries

DTGA

Congenitally Uncorrected Transposition Of The Great Arteries

Congenitally Uncorrected Transposition Of The Great Vessels

D-Tga

Isolated Ventriculoarterial Discordance

Ventriculoarterial Discordance With Atrioventricular Concordance

Dextro-Transposition Of The Great Arteries

Transposition Of The Great Vessels

Great Vessels Transposition

Transposition Of The Great Arteries, Dextro-Looped 1

Arteries, Great, Transposition, Dextro-Looped

Ventriculoarterial Discordance, Isolated

D-Transposition Of The Great Arteries

Complete Transposition

Tga

Tgv

Transposition Of Great Vessels

Transposition Of The Great Arteries Dextro-Looped 1

Dextro-Looped Transposition Of The Great Arteries 1

Discordant Ventriculoarterial Connection

Complete Transposition Of Great Vessels

Great Vessels Complete Transposition

Total Great Vessel Transposition

Transposition Of Great Arteries

Complete Tga - [Transposition Of The Great Arteries]

Tga - [Transposition Of Great Arteries]

Tgv - [Transposition Of Great Vessels]

Transposition Of Great Vessels Nos

Transposed Vessels Nos

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
Felis catus NKX2-6 VGNC VGNC:78532
Bos taurus NKX2-6 VGNC VGNC:32103
Mus musculus NKX2-6 MGD MGI:97351
Macaca mulatta NKX2-6 VGNC VGNC:75290
Rattus norvegicus NKX2-6 RGD RGD:1306149