NKX2-6 - NK2 homeobox 6 Gene

Homo sapiens

Also known as CSX2; CTHM; NKX2F; NKX4-2

Gene ID: 137814 | Gene type: protein coding

About 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.

Summary

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 Products(1)

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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP IMP: Inferred from mutant phenotype	15649947	GOA
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	15649947	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IMP IMP: Inferred from mutant phenotype	15649947	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in embryonic heart tube development	IMP IMP: Inferred from mutant phenotype	15649947	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	15649947	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

NKX2-6 Protein Structure

Homeobox

0
100
200
301 a.a.

Protein Preferred Names

Protein Names

homeobox protein Nkx-2.6

NK2 transcription factor related, locus 6

Related Diseases

Diseases

Alias

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09331	NKX2-6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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