NKX6-2

Functionⁱ

Transcription factor with repressor activity involved in the regulation of axon-glial interactions at myelin paranodes in oligodendrocytes. Binds to the consensus DNA sequence 5'-(A/T)TTAATGA-3'. In oligodendrocytes, binds to MBP and PLP1 promoter regions.By similarity

Regions

Feature key	Position(s)	DescriptionActions	Graphical view	Length
DNA bindingⁱ	148 – 207	HomeoboxPROSITE-ProRule annotationAdd BLAST		60

GO - Molecular functionⁱ

DNA binding Source: UniProtKB
DNA-binding transcription factor activity
Source: UniProtKB
Non-traceable author statementⁱ
- 11210186
DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific Source: Ensembl
RNA polymerase II proximal promoter sequence-specific DNA binding Source: Ensembl

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

central nervous system myelination Source: Ensembl
endocrine pancreas development Source: Ensembl
negative regulation of cell fate commitment Source: Ensembl
negative regulation of glial cell differentiation Source: Ensembl
negative regulation of transcription, DNA-templated Source: UniProtKB
neuromuscular process controlling balance Source: Ensembl
positive regulation of cell fate commitment Source: Ensembl
positive regulation of glial cell differentiation Source: Ensembl
regulation of myelination Source: UniProtKB
regulation of transcription, DNA-templated
Source: UniProtKB
Non-traceable author statementⁱ
- 11210186
regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification Source: Ensembl
regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification Source: Ensembl

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Developmental protein, DNA-binding, Repressor

Molecular function

Developmental protein, DNA-binding, Repressor

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Homeobox protein Nkx-6.2 Alternative name(s): Homeobox protein NK-6 homolog B
Gene namesⁱ	Name:NKX6-2 Synonyms:GTX, NKX6B
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 10

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000148826.8
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:19321 NKX6-2
MIMⁱ	605955 gene
neXtProtⁱ	NX_Q9C056

Keywords - Cellular componentⁱ

Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy (SPAX8)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn autosomal recessive neurodegenerative disorder characterized by early-onset hypotonia which progresses to a pyramidal syndrome with ataxia, spasticity, hyperreflexia, weakness and loss of ambulation. Brain imaging shows cerebellar atrophy and hypomyelinating leukodystrophy.

Keywords - Diseaseⁱ

Disease mutation, Leukodystrophy, Neurodegeneration

Organism-specific databases

DisGeNET More...DisGeNETⁱ	84504
MalaCards human disease database More...MalaCardsⁱ	NKX6-2
MIMⁱ	617560 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000148826
PharmGKBⁱ	PA134896334

Polymorphism and mutation databases

BioMutaⁱ	NKX6-2
DMDMⁱ	158564033

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000300635	1 – 277	Homeobox protein Nkx-6.2Add BLAST		277

Proteomic databases

PaxDbⁱ	Q9C056
PeptideAtlas More...PeptideAtlasⁱ	Q9C056
PRIDEⁱ	Q9C056
ProteomicsDBⁱ	79961

PTM databases

iPTMnetⁱ	Q9C056
PhosphoSitePlusⁱ	Q9C056

Expressionⁱ

Tissue specificityⁱ

Highest expression in brain.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000148826 Expressed in 70 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExⁱ	HS_NKX6-2

Interactionⁱ

Protein-protein interaction databases

STRINGⁱ	9606.ENSP00000357581

STRINGⁱ

9606.ENSP00000357581

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q9C056
SMRⁱ	Q9C056
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	89 – 142	Repressor domainBy similarityAdd BLAST		54

Keywords - Domainⁱ

Homeobox

Phylogenomic databases

eggNOGⁱ	KOG0847 Eukaryota ENOG410XT1X LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00930000150864
HOGENOMⁱ	HOG000060127
HOVERGENⁱ	HBG070987
InParanoidⁱ	Q9C056
KEGG Orthology (KO) More...KOⁱ	K09350
OMAⁱ	GRAPIFW
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G142D
PhylomeDBⁱ	Q9C056
TreeFamⁱ	TF327063

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00086 homeodomain, 1 hit
InterProⁱ	View protein in InterPro IPR009057 Homeobox-like_sf IPR017970 Homeobox_CS IPR001356 Homeobox_dom IPR020479 Homeobox_metazoa IPR000047 HTH_motif
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00046 Homeobox, 1 hit
PRINTSⁱ	PR00024 HOMEOBOX PR00031 HTHREPRESSR
SMARTⁱ	View protein in SMART SM00389 HOX, 1 hit
SUPFAMⁱ	SSF46689 SSF46689, 1 hit
PROSITEⁱ	View protein in PROSITE PS00027 HOMEOBOX_1, 1 hit PS50071 HOMEOBOX_2, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

Q9C056-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MDTNRPGAFV LSSAPLAALH NMAEMKTSLF PYALQGPAGF KAPALGGLGA 
        60         70         80         90        100
QLPLGTPHGI SDILGRPVGA AGGGLLGGLP RLNGLASSAG VYFGPAAAVA 
       110        120        130        140        150
RGYPKPLAEL PGRPPIFWPG VVQGAPWRDP RLAGPAPAGG VLDKDGKKKH 
       160        170        180        190        200
SRPTFSGQQI FALEKTFEQT KYLAGPERAR LAYSLGMTES QVKVWFQNRR 
       210        220        230        240        250
TKWRKRHAVE MASAKKKQDS DAEKLKVGGS DAEDDDEYNR PLDPNSDDEK 
       260        270 
ITRLLKKHKP SNLALVSPCG GGAGDAL

Length:277

Mass (Da):29,263

Last modified:September 11, 2007 - v2

Checksum:ⁱ4B8EE650EC35D4A9

GO

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_079480	41 – 277	Missing in SPAX8; loss of protein expression. 1 PublicationAdd BLAST	237
Natural variantⁱVAR_079481	163	L → V in SPAX8; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1131692048Ensembl.	1
Natural variantⁱVAR_034878	209	V → A3 PublicationsCorresponds to variant dbSNP:rs2804003Ensembl.	1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF184215 Genomic DNA Translation: AAK13251.1 AL392043 Genomic DNA No translation available. CH471211 Genomic DNA Translation: EAW61308.1 BC101635 mRNA Translation: AAI01636.1 BC104823 mRNA Translation: AAI04824.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS7670.1
NCBI Reference Sequences More...RefSeqⁱ	NP_796374.1, NM_177400.2 XP_016872278.1, XM_017016789.1
UniGeneⁱ	Hs.134013

Genome annotation databases

Ensemblⁱ	ENST00000368592; ENSP00000357581; ENSG00000148826
GeneIDⁱ	84504
KEGGⁱ	hsa:84504
UCSC genome browser More...UCSCⁱ	uc001llr.3 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9C056	Uncharacterized protein		OTOGA		283	UniRef90_Q9C056
NK6 homeobox 2		CANLF		281
Homeobox protein Nkx-6.2		CALJA		278
homeobox protein Nkx-6.2		Enhydra lutris kenyoni		278
NK6 homeobox 2		FELCA		278
+63

Protein	Similar proteins		Species	Score	Length	Source
Q9C056	Uncharacterized protein		OTOGA		283	UniRef50_Q9C056
NK6 homeobox 2		CANLF		281
Homeobox protein Nkx-6.2		CALJA		278
homeobox protein Nkx-6.2		Enhydra lutris kenyoni		278
NK6 homeobox 2		FELCA		278
+138

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF184215 Genomic DNA Translation: AAK13251.1 AL392043 Genomic DNA No translation available. CH471211 Genomic DNA Translation: EAW61308.1 BC101635 mRNA Translation: AAI01636.1 BC104823 mRNA Translation: AAI04824.1
CCDSⁱ	CCDS7670.1
RefSeqⁱ	NP_796374.1, NM_177400.2 XP_016872278.1, XM_017016789.1
UniGeneⁱ	Hs.134013

3D structure databases

ProteinModelPortalⁱ	Q9C056
SMRⁱ	Q9C056
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

STRINGⁱ	9606.ENSP00000357581

STRINGⁱ

9606.ENSP00000357581

PTM databases

iPTMnetⁱ	Q9C056
PhosphoSitePlusⁱ	Q9C056

Polymorphism and mutation databases

BioMutaⁱ	NKX6-2
DMDMⁱ	158564033

Proteomic databases

PaxDbⁱ	Q9C056
PeptideAtlasⁱ	Q9C056
PRIDEⁱ	Q9C056
ProteomicsDBⁱ	79961

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000368592; ENSP00000357581; ENSG00000148826
GeneIDⁱ	84504
KEGGⁱ	hsa:84504
UCSCⁱ	uc001llr.3 human

Organism-specific databases

CTDⁱ	84504
DisGeNETⁱ	84504
EuPathDBⁱ	HostDB:ENSG00000148826.8
GeneCardsⁱ	NKX6-2
HGNCⁱ	HGNC:19321 NKX6-2
MalaCardsⁱ	NKX6-2
MIMⁱ	605955 gene 617560 phenotype
neXtProtⁱ	NX_Q9C056
OpenTargetsⁱ	ENSG00000148826
PharmGKBⁱ	PA134896334
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG0847 Eukaryota ENOG410XT1X LUCA
GeneTreeⁱ	ENSGT00930000150864
HOGENOMⁱ	HOG000060127
HOVERGENⁱ	HBG070987
InParanoidⁱ	Q9C056
KOⁱ	K09350
OMAⁱ	GRAPIFW
OrthoDBⁱ	EOG091G142D
PhylomeDBⁱ	Q9C056
TreeFamⁱ	TF327063

Miscellaneous databases

GeneWikiⁱ	NKX6-2
GenomeRNAiⁱ	84504
Protein Ontology More...PROⁱ	PR:Q9C056
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000148826 Expressed in 70 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExⁱ	HS_NKX6-2

Family and domain databases

CDDⁱ	cd00086 homeodomain, 1 hit
InterProⁱ	View protein in InterPro IPR009057 Homeobox-like_sf IPR017970 Homeobox_CS IPR001356 Homeobox_dom IPR020479 Homeobox_metazoa IPR000047 HTH_motif
Pfamⁱ	View protein in Pfam PF00046 Homeobox, 1 hit
PRINTSⁱ	PR00024 HOMEOBOX PR00031 HTHREPRESSR
SMARTⁱ	View protein in SMART SM00389 HOX, 1 hit
SUPFAMⁱ	SSF46689 SSF46689, 1 hit
PROSITEⁱ	View protein in PROSITE PS00027 HOMEOBOX_1, 1 hit PS50071 HOMEOBOX_2, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	NKX62_HUMAN
Accessionⁱ	Q9C056Primary (citable) accession number: Q9C056 Secondary accession number(s): Q5JSF3
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	September 11, 2007
	Last sequence update:	September 11, 2007
	Last modified:	November 7, 2018
	This is version 128 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM

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UniRef

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Annotation systems

Supporting data

UniProtKB - Q9C056 (NKX62_HUMAN)

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Homeobox protein Nkx-6.2

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Nucleus

Nucleus

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ