NKX2-6

Protein identityUniProt · HPA

UniProt accession

A6NCS4

Gene

NKX2-6

Ensembl

ENSG00000180053

Chromosome

8

Canonical length

301 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Nuclear membrane,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

301 residues, UniProt reviewed canonical sequence.

>A6NCS4|NKX2-6
     1  MLLSPVTSTP FSVKDILRLE RERSCPAASP HPRVRKSPEN FQYLRMDAEP RGSEVHNAGG
    61  GGGDRKLDGS EPPGGPCEAV LEMDAERMGE PQPGLNAASP LGGGTRVPER GVGNSGDSVR
   121  GGRSEQPKAR QRRKPRVLFS QAQVLALERR FKQQRYLSAP EREHLASALQ LTSTQVKIWF
   181  QNRRYKCKRQ RQDKSLELAG HPLTPRRVAV PVLVRDGKPC LGPGPGAPAF PSPYSAAVSP
   241  YSCYGGYSGA PYGAGYGTCY AGAPSGPAPH TPLASAGFGH GGQNATPQGH LAATLQGVRA
   301  W

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NKX2-6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.66

Highest tissue expression

1.5 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NKX2-6.

Disease | AllUniProt

Conditions NKX2-6 is implicated in, by any mechanism.

• Conotruncal heart malformations (CTHM) MIM:217095

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 131 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Conotruncal heart malformations
• Persistent truncus arteriosus
• Cerebral palsy

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.03

gnomAD pLI

0.02

gnomAD missense Z

0.26

OntologyGO

Biological processes

• atrial cardiac muscle cell development
• cell differentiation
• digestive tract development
• embryonic heart tube development
• epithelial cell apoptotic process
• epithelial cell differentiation
• epithelial cell proliferation
• hypothalamus development
• negative regulation of apoptotic process
• negative regulation of epithelial cell apoptotic process
• pericardium development
• pharyngeal system development
• positive regulation of cell population proliferation
• positive regulation of epithelial cell proliferation
• positive regulation of transcription by RNA polymerase II
• regulation of transcription by RNA polymerase II
• tongue development
• ventricular cardiac muscle cell development

Molecular functions

• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Homeodomain
• Homedomain-like superfamily
• Homeobox, conserved site
• Homeodomain, metazoa
• Homeobox NK-like transcription regulators
• Homeodomain

KeywordsUniProt

• Activator
• Developmental protein
• DNA-binding
• Homeobox
• Nucleus
• Transcription
• Transcription regulation