Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	84504
Gene name	NK6 homeobox 2
Gene symbol	NKX6-2
Synonyms (NCBI Gene)	GTXNKX6.2NKX6BSPAX8
Chromosome	10
Chromosome location	10q26.3

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
rs1554961118	G>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1565019928	C>T	Pathogenic	Stop gained, coding sequence variant
rs1565019932	C>TA	Pathogenic	Frameshift variant, coding sequence variant
rs1565019976	G>A	Pathogenic	Stop gained, coding sequence variant

129

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
MIRT488412	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT488410	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT488411	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT488409	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT488408	hsa-miR-6781-5p	PAR-CLIP	20371350
MIRT488407	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT488406	hsa-miR-128-1-5p	PAR-CLIP	20371350
MIRT488405	hsa-miR-128-2-5p	PAR-CLIP	20371350
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
MIRT488412	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT488410	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT488411	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT488409	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT488408	hsa-miR-6781-5p	PAR-CLIP	20371350
MIRT488407	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT488406	hsa-miR-128-1-5p	PAR-CLIP	20371350
MIRT488405	hsa-miR-128-2-5p	PAR-CLIP	20371350
MIRT488417	hsa-miR-6784-5p	PAR-CLIP	23592263
MIRT488416	hsa-miR-6777-5p	PAR-CLIP	23592263
MIRT488415	hsa-miR-6889-5p	PAR-CLIP	23592263
MIRT488414	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT488413	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT488412	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT488410	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT488411	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT488409	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT488408	hsa-miR-6781-5p	PAR-CLIP	23592263
MIRT488407	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT488406	hsa-miR-128-1-5p	PAR-CLIP	23592263
MIRT488405	hsa-miR-128-2-5p	PAR-CLIP	23592263
MIRT488406	hsa-miR-128-1-5p	PAR-CLIP	26701625
MIRT488406	hsa-miR-128-1-5p	PAR-CLIP	26701625
MIRT488406	hsa-miR-128-1-5p	PAR-CLIP	26701625
MIRT488406	hsa-miR-128-1-5p	PAR-CLIP	26701625
MIRT488405	hsa-miR-128-2-5p	PAR-CLIP	26701625
MIRT488405	hsa-miR-128-2-5p	PAR-CLIP	26701625
MIRT488405	hsa-miR-128-2-5p	PAR-CLIP	26701625
MIRT488405	hsa-miR-128-2-5p	PAR-CLIP	26701625
MIRT488412	hsa-miR-149-3p	PAR-CLIP	26701625
MIRT488412	hsa-miR-149-3p	PAR-CLIP	26701625
MIRT488412	hsa-miR-149-3p	PAR-CLIP	26701625
MIRT488412	hsa-miR-149-3p	PAR-CLIP	26701625
MIRT488414	hsa-miR-3184-5p	PAR-CLIP	26701625
MIRT488414	hsa-miR-3184-5p	PAR-CLIP	26701625
MIRT488414	hsa-miR-3184-5p	PAR-CLIP	26701625
MIRT488414	hsa-miR-3184-5p	PAR-CLIP	26701625
MIRT488413	hsa-miR-423-5p	PAR-CLIP	26701625
MIRT488413	hsa-miR-423-5p	PAR-CLIP	26701625
MIRT488413	hsa-miR-423-5p	PAR-CLIP	26701625
MIRT488413	hsa-miR-423-5p	PAR-CLIP	26701625
MIRT488410	hsa-miR-4728-5p	PAR-CLIP	26701625
MIRT488410	hsa-miR-4728-5p	PAR-CLIP	26701625
MIRT488410	hsa-miR-4728-5p	PAR-CLIP	26701625
MIRT488410	hsa-miR-4728-5p	PAR-CLIP	26701625
MIRT488416	hsa-miR-6777-5p	PAR-CLIP	26701625
MIRT488416	hsa-miR-6777-5p	PAR-CLIP	26701625
MIRT488416	hsa-miR-6777-5p	PAR-CLIP	26701625
MIRT488416	hsa-miR-6777-5p	PAR-CLIP	26701625
MIRT488408	hsa-miR-6781-5p	PAR-CLIP	26701625
MIRT488408	hsa-miR-6781-5p	PAR-CLIP	26701625
MIRT488408	hsa-miR-6781-5p	PAR-CLIP	26701625
MIRT488408	hsa-miR-6781-5p	PAR-CLIP	26701625
MIRT488417	hsa-miR-6784-5p	PAR-CLIP	26701625
MIRT488417	hsa-miR-6784-5p	PAR-CLIP	26701625
MIRT488417	hsa-miR-6784-5p	PAR-CLIP	26701625
MIRT488411	hsa-miR-6785-5p	PAR-CLIP	26701625
MIRT488411	hsa-miR-6785-5p	PAR-CLIP	26701625
MIRT488411	hsa-miR-6785-5p	PAR-CLIP	26701625
MIRT488411	hsa-miR-6785-5p	PAR-CLIP	26701625
MIRT488407	hsa-miR-6825-5p	PAR-CLIP	26701625
MIRT488407	hsa-miR-6825-5p	PAR-CLIP	26701625
MIRT488407	hsa-miR-6825-5p	PAR-CLIP	26701625
MIRT488407	hsa-miR-6825-5p	PAR-CLIP	26701625
MIRT488409	hsa-miR-6883-5p	PAR-CLIP	26701625
MIRT488409	hsa-miR-6883-5p	PAR-CLIP	26701625
MIRT488409	hsa-miR-6883-5p	PAR-CLIP	26701625
MIRT488409	hsa-miR-6883-5p	PAR-CLIP	26701625
MIRT488415	hsa-miR-6889-5p	PAR-CLIP	26701625
MIRT488415	hsa-miR-6889-5p	PAR-CLIP	26701625
MIRT488415	hsa-miR-6889-5p	PAR-CLIP	26701625
MIRT488415	hsa-miR-6889-5p	PAR-CLIP	26701625
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
MIRT488412	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT488410	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT488411	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT488409	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT488408	hsa-miR-6781-5p	PAR-CLIP	20371350
MIRT488407	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT488406	hsa-miR-128-1-5p	PAR-CLIP	20371350
MIRT488405	hsa-miR-128-2-5p	PAR-CLIP	20371350
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
MIRT488412	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT488410	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT488411	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT488409	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT488408	hsa-miR-6781-5p	PAR-CLIP	20371350
MIRT488407	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT488406	hsa-miR-128-1-5p	PAR-CLIP	20371350
MIRT488405	hsa-miR-128-2-5p	PAR-CLIP	20371350
MIRT488417	hsa-miR-6784-5p	PAR-CLIP	23592263
MIRT488416	hsa-miR-6777-5p	PAR-CLIP	23592263
MIRT488415	hsa-miR-6889-5p	PAR-CLIP	23592263
MIRT488414	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT488413	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT488412	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT488410	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT488411	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT488409	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT488408	hsa-miR-6781-5p	PAR-CLIP	23592263
MIRT488407	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT488406	hsa-miR-128-1-5p	PAR-CLIP	23592263
MIRT488405	hsa-miR-128-2-5p	PAR-CLIP	23592263

Show/Hide all (37)

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
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0003310	Process	Pancreatic A cell differentiation	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	ISS
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	NAS	11210186
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	11210186
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	11210186
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0010454	Process	Negative regulation of cell fate commitment	IEA
GO:0010455	Process	Positive regulation of cell fate commitment	IEA
GO:0022010	Process	Central nervous system myelination	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0031018	Process	Endocrine pancreas development	IEA
GO:0031641	Process	Regulation of myelination	IEA
GO:0031641	Process	Regulation of myelination	ISS
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045165	Process	Cell fate commitment	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0048663	Process	Neuron fate commitment	IEA
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0048714	Process	Positive regulation of oligodendrocyte differentiation	IEA
GO:0048715	Process	Negative regulation of oligodendrocyte differentiation	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
605955	19321	ENSG00000148826

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	Likely pathogenic; Pathogenic	rs765650727, rs2134707158, rs1207105923, rs2134706311, rs2134706153, rs770310729, rs2134706418, rs2493481426, rs1131692047, rs1131692048, rs1554961118, rs1565019928, rs1565019932, rs1008088032, rs1565019976, rs776560015 View all (1 more)	RCV004796644 RCV001784750 RCV001849691 RCV001849693 RCV001849694 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
NKX6-2-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (31)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	29212734	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	21586619	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	11210186	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	21586619	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	26317775	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	31509304	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	28969374, 31509304	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	21586619	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11210186	★★★★★ ★☆☆☆☆ Found in Text Mining only
NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	Hypomyelinating Leukodystrophy	Orphanet		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	31509304	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	11210186	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic Ataxia	BEFREE	28575651	★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY	Spastic Ataxia, with hypomylineating leukodystrophy	GENOMICS_ENGLAND_DG	15601927, 28575651, 29388673	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY	Spastic Ataxia, with hypomylineating leukodystrophy	UNIPROT_DG	28575651	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY	Spastic Ataxia, with hypomylineating leukodystrophy	ORPHANET_DG	28575651	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY	Spastic Ataxia, with hypomylineating leukodystrophy	CLINVAR_DG		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Strabismus	Strabismus	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	11210186	★★★★★ ★☆☆☆☆ Found in Text Mining only

NKX6-2 (NK6 homeobox 2)