Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID	137814
Gene name	NK2 homeobox 6
Gene symbol	NKX2-6
Synonyms (NCBI Gene)	CSX2CTHMNKX2FNKX4-2
Chromosome	8
Chromosome location	8p21.2
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-lik

Show/Hide all (44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IMP	15649947
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	15649947
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	15649947
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IC	15649947
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006915	Process	Apoptotic process	IEA
GO:0007507	Process	Heart development	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	ISS
GO:0021854	Process	Hypothalamus development	IEA
GO:0021854	Process	Hypothalamus development	ISS
GO:0030154	Process	Cell differentiation	IBA
GO:0030154	Process	Cell differentiation	ISS
GO:0030855	Process	Epithelial cell differentiation	IEA
GO:0035050	Process	Embryonic heart tube development	IEA
GO:0035050	Process	Embryonic heart tube development	IMP	15649947
GO:0035050	Process	Embryonic heart tube development	ISS
GO:0043066	Process	Negative regulation of apoptotic process	ISS
GO:0043586	Process	Tongue development	IEA
GO:0043586	Process	Tongue development	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	15649947
GO:0048565	Process	Digestive tract development	IEA
GO:0048565	Process	Digestive tract development	ISS
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0055014	Process	Atrial cardiac muscle cell development	IEA
GO:0055014	Process	Atrial cardiac muscle cell development	ISS
GO:0055015	Process	Ventricular cardiac muscle cell development	IEA
GO:0055015	Process	Ventricular cardiac muscle cell development	ISS
GO:0060037	Process	Pharyngeal system development	IEA
GO:0060037	Process	Pharyngeal system development	ISS
GO:0060039	Process	Pericardium development	IEA
GO:0060039	Process	Pericardium development	ISS
GO:1904019	Process	Epithelial cell apoptotic process	IEA
GO:1904036	Process	Negative regulation of epithelial cell apoptotic process	IEA

MIM	HGNC	e!Ensembl
611770	32940	ENSG00000180053

A6NCS4

Protein name

Homeobox protein Nkx-2.6 (Homeobox protein NK-2 homolog F)

Protein function

Acts as a transcriptional activator (PubMed:15649947). In conjunction with NKX2-5, may play a role in both pharyngeal and cardiac embryonic development.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	133 → 189	Homeodomain	Domain

Sequence

MLLSPVTSTPFSVKDILRLERERSCPAASPHPRVRKSPENFQYLRMDAEPRGSEVHNAGG
GGGDRKLDGSEPPGGPCEAVLEMDAERMGEPQPGLNAASPLGGGTRVPERGVGNSGDSVR
GGRSEQPKARQRRKPRVLFSQAQVLALERRFKQQRYLSAPEREHLASALQLTSTQVKIWF
QNRRYKCKRQRQDKSLELAGHPLTPRRVAVPVLVRDGKPCLGPGPGAPAFPSPYSAAVSP
YSCYGGYSGAPYGAGYGTCYAGAPSGPAPHTPLASAGFGHGGQNATPQGHLAATLQGVRA
W

Sequence length

301

Interactions

View interactions

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebral palsy	Likely pathogenic	rs757292066	RCV001796581
Conotruncal heart malformations	Likely pathogenic	rs757292066, rs587777422, rs267606914, rs2486482243	RCV001780395 RCV000119845 RCV004585978 RCV003135428
Persistent truncus arteriosus	Likely pathogenic	rs267606914	RCV000000827

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
NKX2-6-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs916318048, rs2486482789, rs1242241900, rs1801033681, rs747170367, rs139466287, rs747477274, rs61749320, rs768775204	RCV003395248 RCV003404286 RCV003392773 RCV003402266 RCV003419109 RCV003925654 RCV003960329 RCV003935458 RCV003918037

NKX2-6 (NK2 homeobox 6)