NKX2-6 - NK2 homeobox 6 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 137814

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	References	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	References	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

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 Set	/	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
Others	NKX2-6	NCBI