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UniProtKB - Q9C056 (NKX62_HUMAN)
Protein
Homeobox protein Nkx-6.2
Gene
NKX6-2
Organism
Homo sapiens (Human)
Status
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 similarityRegions
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
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription repressor activity, RNA polymerase II-specific Source: Ensembl
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- cell differentiation Source: GO_Central
- 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
- regulation of transcription by RNA polymerase II Source: GO_Central
Keywordsi
Molecular function | Developmental protein, DNA-binding, Repressor |
Enzyme and pathway databases
PathwayCommonsi | Q9C056 |
Names & Taxonomyi
Protein namesi | Recommended name: Homeobox protein Nkx-6.2Alternative 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 | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:19321, NKX6-2 |
MIMi | 605955, gene |
neXtProti | NX_Q9C056 |
VEuPathDBi | HostDB:ENSG00000148826 |
Pathology & Biotechi
Involvement in diseasei
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy (SPAX8)1 Publication
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | 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:rs1131692048EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Leukodystrophy, NeurodegenerationOrganism-specific databases
DisGeNETi | 84504 |
GeneReviewsi | NKX6-2 |
MalaCardsi | NKX6-2 |
MIMi | 617560, phenotype |
OpenTargetsi | ENSG00000148826 |
Orphaneti | 527497, NKX6-2-related autosomal recessive hypomyelinating leukodystrophy |
PharmGKBi | PA134896334 |
Miscellaneous databases
Pharosi | Q9C056, Tbio |
Genetic variation 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
MassIVEi | Q9C056 |
PaxDbi | Q9C056 |
PeptideAtlasi | Q9C056 |
PRIDEi | Q9C056 |
PTM databases
iPTMneti | Q9C056 |
PhosphoSitePlusi | Q9C056 |
Expressioni
Tissue specificityi
Highest expression in brain.1 Publication
Gene expression databases
Bgeei | ENSG00000148826, Expressed in C1 segment of cervical spinal cord and 87 other tissues |
Organism-specific databases
HPAi | ENSG00000148826, Tissue enriched (brain) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 124105, 1 interactor |
STRINGi | 9606.ENSP00000357581 |
Miscellaneous databases
RNActi | Q9C056, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 89 – 142 | Repressor domainBy similarityAdd BLAST | 54 | |
Regioni | 132 – 155 | DisorderedSequence analysisAdd BLAST | 24 | |
Regioni | 210 – 250 | DisorderedSequence analysisAdd BLAST | 41 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 212 – 235 | Basic and acidic residuesSequence analysisAdd BLAST | 24 |
Keywords - Domaini
HomeoboxPhylogenomic databases
eggNOGi | KOG0847, Eukaryota |
GeneTreei | ENSGT00940000161547 |
HOGENOMi | CLU_064820_1_1_1 |
InParanoidi | Q9C056 |
OMAi | MQGAPWR |
OrthoDBi | 1263401at2759 |
PhylomeDBi | Q9C056 |
TreeFami | TF327063 |
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, Homeodomain, 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 |
i Sequence
Sequence statusi: Complete.
Q9C056-1 [UniParc]FASTAAdd to basket
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
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | 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:rs1131692048EnsemblClinVar. | 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 |
CCDSi | CCDS7670.1 |
RefSeqi | NP_796374.1, NM_177400.2 XP_016872278.1, XM_017016789.1 |
Genome annotation databases
Ensembli | ENST00000368592.8; ENSP00000357581.5; ENSG00000148826.9 |
GeneIDi | 84504 |
KEGGi | hsa:84504 |
MANE-Selecti | ENST00000368592.8; ENSP00000357581.5; NM_177400.3; NP_796374.2 |
UCSCi | uc001llr.3, human |
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 |
CCDSi | CCDS7670.1 |
RefSeqi | NP_796374.1, NM_177400.2 XP_016872278.1, XM_017016789.1 |
3D structure databases
AlphaFoldDBi | Q9C056 |
SMRi | Q9C056 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 124105, 1 interactor |
STRINGi | 9606.ENSP00000357581 |
PTM databases
iPTMneti | Q9C056 |
PhosphoSitePlusi | Q9C056 |
Genetic variation databases
BioMutai | NKX6-2 |
DMDMi | 158564033 |
Proteomic databases
MassIVEi | Q9C056 |
PaxDbi | Q9C056 |
PeptideAtlasi | Q9C056 |
PRIDEi | Q9C056 |
Protocols and materials databases
Antibodypediai | 56219, 79 antibodies from 17 providers |
DNASUi | 84504 |
Genome annotation databases
Ensembli | ENST00000368592.8; ENSP00000357581.5; ENSG00000148826.9 |
GeneIDi | 84504 |
KEGGi | hsa:84504 |
MANE-Selecti | ENST00000368592.8; ENSP00000357581.5; NM_177400.3; NP_796374.2 |
UCSCi | uc001llr.3, human |
Organism-specific databases
CTDi | 84504 |
DisGeNETi | 84504 |
GeneCardsi | NKX6-2 |
GeneReviewsi | NKX6-2 |
HGNCi | HGNC:19321, NKX6-2 |
HPAi | ENSG00000148826, Tissue enriched (brain) |
MalaCardsi | NKX6-2 |
MIMi | 605955, gene 617560, phenotype |
neXtProti | NX_Q9C056 |
OpenTargetsi | ENSG00000148826 |
Orphaneti | 527497, NKX6-2-related autosomal recessive hypomyelinating leukodystrophy |
PharmGKBi | PA134896334 |
VEuPathDBi | HostDB:ENSG00000148826 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0847, Eukaryota |
GeneTreei | ENSGT00940000161547 |
HOGENOMi | CLU_064820_1_1_1 |
InParanoidi | Q9C056 |
OMAi | MQGAPWR |
OrthoDBi | 1263401at2759 |
PhylomeDBi | Q9C056 |
TreeFami | TF327063 |
Enzyme and pathway databases
PathwayCommonsi | Q9C056 |
Miscellaneous databases
BioGRID-ORCSi | 84504, 11 hits in 1072 CRISPR screens |
ChiTaRSi | NKX6-2, human |
GeneWikii | NKX6-2 |
GenomeRNAii | 84504 |
Pharosi | Q9C056, Tbio |
PROi | PR:Q9C056 |
RNActi | Q9C056, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000148826, Expressed in C1 segment of cervical spinal cord and 87 other tissues |
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, Homeodomain, 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 |
MobiDBi | 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: | May 25, 2022 | |
This is version 148 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
Reference proteomeDocuments
- Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot