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Protein

Homeobox protein Nkx-6.2

Gene

NKX6-2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi148 – 207HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000148826.8
HGNCiHGNC:19321 NKX6-2
MIMi605955 gene
neXtProtiNX_Q9C056

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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.
See also OMIM:617560
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07948041 – 277Missing in SPAX8; loss of protein expression. 1 PublicationAdd BLAST237
Natural variantiVAR_079481163L → V in SPAX8; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1131692048Ensembl.1

Keywords - Diseasei

Disease mutation, Leukodystrophy, Neurodegeneration

Organism-specific databases

DisGeNETi84504
MalaCardsiNKX6-2
MIMi617560 phenotype
OpenTargetsiENSG00000148826
PharmGKBiPA134896334

Polymorphism and mutation databases

BioMutaiNKX6-2
DMDMi158564033

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003006351 – 277Homeobox protein Nkx-6.2Add BLAST277

Proteomic databases

PaxDbiQ9C056
PeptideAtlasiQ9C056
PRIDEiQ9C056
ProteomicsDBi79961

PTM databases

iPTMnetiQ9C056
PhosphoSitePlusiQ9C056

Expressioni

Tissue specificityi

Highest expression in brain.1 Publication

Gene expression databases

BgeeiENSG00000148826 Expressed in 70 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_NKX6-2

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000357581

Structurei

3D structure databases

ProteinModelPortaliQ9C056
SMRiQ9C056
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni89 – 142Repressor domainBy similarityAdd BLAST54

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0847 Eukaryota
ENOG410XT1X LUCA
GeneTreeiENSGT00930000150864
HOGENOMiHOG000060127
HOVERGENiHBG070987
InParanoidiQ9C056
KOiK09350
OMAiGRAPIFW
OrthoDBiEOG091G142D
PhylomeDBiQ9C056
TreeFamiTF327063

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR020479 Homeobox_metazoa
IPR000047 HTH_motif
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PRINTSiPR00024 HOMEOBOX
PR00031 HTHREPRESSR
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

Sequencei

Sequence statusi: Complete.

Q9C056-1 [UniParc]FASTAAdd 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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07948041 – 277Missing in SPAX8; loss of protein expression. 1 PublicationAdd BLAST237
Natural variantiVAR_079481163L → V in SPAX8; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1131692048Ensembl.1
Natural variantiVAR_034878209V → 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
CCDSiCCDS7670.1
RefSeqiNP_796374.1, NM_177400.2
XP_016872278.1, XM_017016789.1
UniGeneiHs.134013

Genome annotation databases

EnsembliENST00000368592; ENSP00000357581; ENSG00000148826
GeneIDi84504
KEGGihsa:84504
UCSCiuc001llr.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

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
CCDSiCCDS7670.1
RefSeqiNP_796374.1, NM_177400.2
XP_016872278.1, XM_017016789.1
UniGeneiHs.134013

3D structure databases

ProteinModelPortaliQ9C056
SMRiQ9C056
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000357581

PTM databases

iPTMnetiQ9C056
PhosphoSitePlusiQ9C056

Polymorphism and mutation databases

BioMutaiNKX6-2
DMDMi158564033

Proteomic databases

PaxDbiQ9C056
PeptideAtlasiQ9C056
PRIDEiQ9C056
ProteomicsDBi79961

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000368592; ENSP00000357581; ENSG00000148826
GeneIDi84504
KEGGihsa:84504
UCSCiuc001llr.3 human

Organism-specific databases

CTDi84504
DisGeNETi84504
EuPathDBiHostDB:ENSG00000148826.8
GeneCardsiNKX6-2
HGNCiHGNC:19321 NKX6-2
MalaCardsiNKX6-2
MIMi605955 gene
617560 phenotype
neXtProtiNX_Q9C056
OpenTargetsiENSG00000148826
PharmGKBiPA134896334
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0847 Eukaryota
ENOG410XT1X LUCA
GeneTreeiENSGT00930000150864
HOGENOMiHOG000060127
HOVERGENiHBG070987
InParanoidiQ9C056
KOiK09350
OMAiGRAPIFW
OrthoDBiEOG091G142D
PhylomeDBiQ9C056
TreeFamiTF327063

Miscellaneous databases

GeneWikiiNKX6-2
GenomeRNAii84504
PROiPR:Q9C056
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000148826 Expressed in 70 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_NKX6-2

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR020479 Homeobox_metazoa
IPR000047 HTH_motif
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PRINTSiPR00024 HOMEOBOX
PR00031 HTHREPRESSR
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNKX62_HUMAN
AccessioniPrimary (citable) accession number: Q9C056
Secondary accession number(s): Q5JSF3
Entry historyiIntegrated 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 statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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