NKX6-2 (NK6 homeobox 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84504
Gene name Gene Name - the full gene name approved by the HGNC.
NK6 homeobox 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NKX6-2
Synonyms (NCBI Gene) Gene synonyms aliases
GTX, NKX6.2, NKX6B, SPAX8
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SPAX8
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q26.3
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
SNP ID Visualize variation Clinical significance Consequence
rs765650727 C>-,CC Likely-pathogenic Coding sequence variant, frameshift variant
rs776560015 C>A,G,T Pathogenic Coding sequence variant, missense variant, stop gained
rs1008088032 C>G,T Pathogenic Missense variant, coding sequence variant
rs1131692047 T>A Pathogenic Stop gained, coding sequence variant
rs1131692048 G>C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(129)
miRTarBase ID miRNA Experiments Reference
MIRT488417 hsa-miR-6784-5p PAR-CLIP 20371350
MIRT488416 hsa-miR-6777-5p PAR-CLIP 20371350
MIRT488415 hsa-miR-6889-5p PAR-CLIP 20371350
MIRT488414 hsa-miR-3184-5p PAR-CLIP 20371350
MIRT488413 hsa-miR-423-5p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(23)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
605955 19321 ENSG00000148826
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9C056
Protein name Homeobox protein Nkx-6.2 (Homeobox protein NK-6 homolog B)
Protein function 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 promot
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 149 → 205 Homeodomain Domain
Tissue specificity TISSUE SPECIFICITY: Highest expression in brain. {ECO:0000269|PubMed:11210186}.
Sequence 
MDTNRPGAFVLSSAPLAALHNMAEMKTSLFPYALQGPAGFKAPALGGLGAQLPLGTPHGI
SDILGRPVGAAGGGLLGGLPRLNGLASSAGVYFGPAAAVARGYPKPLAELPGRPPIFWPG
VVQGAPWRDPRLAGPAPAGGVLDKDGKKKHSRPTFSGQQIFALEKTFEQTKYLAGPERAR
LAYSLGMTESQVKVWFQNRRTKWRKRHAVEMASAKKKQDSDAEKLKVGGSDAEDDDEYNR
PLDPNSDDEKITRLLKKHKPSNLALVSPCGGGAGDAL
Sequence length 277
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (8)
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Hypomyelinating leukodystrophy NKX6-2-related autosomal recessive hypomyelinating leukodystrophy rs74315311, rs74315312, rs796065027, rs74315313, rs74315314, rs796065028, rs796065029, rs132630292, rs72466451, rs387906865, rs587776888, rs191582628, rs141156009, rs587776983, rs483352809
View all (91 more)
Leukodystrophy Leukodystrophy rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604
View all (6 more)
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)