NKX6-2 - NK6 homeobox 2 Gene

Homo sapiens

Also known as GTX; NKX6B; SPAX8; NKX6.2

Gene ID: 84504 | Gene type: protein coding

About NKX6-2

Cytogenetic location: 10q26.3 Genomic coordinates (GRCh38): 10:132,783,181-132,786,147 (from NCBI)

This gene has 2 transcripts (splice variants), 190 orthologues, 13 paralogues and is associated with 3 phenotypes. Ubiquitous expression in stomach (RPKM 17.5), brain (RPKM 14.0) and 25 other tissues.

Summary

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in cell differentiation; regulation of myelination; and regulation of transcription, DNA-templated. Predicted to act upstream of or within several processes, including negative regulation of transcription by RNA polymerase II; neurogenesis; and neuromuscular process controlling balance. Predicted to be part of chromatin. Predicted to be active in nucleus. Implicated in spastic ataxia 8. [provided by Alliance of Genome Resources, Apr 2022]

NKX6-2 Products(1)

mRNA	Protein	Name
NM_177400.3	NP_796374.2	homeobox protein Nkx-6.2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NKX6-2 Protein Structure

Homeobox

0
100
200
277 a.a.

Protein Preferred Names

Protein Names

homeobox protein Nkx-6.2

NK homeobox family 6, B

Related Diseases

Diseases

Alias

Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy

SPAX8	Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Autosomal Recessive Hypomyelinating Leukodystrophy-Progressive Spastic Ataxia

Spastic Ataxia 8

Nkx6-2-Related Disorder

Nkx6-2-Related Spastic Ataxia With Hypomyelination

Spax8

Spastic Ataxia

Spax	Ataxia, Spastic

Hypomyelinating Leukodystrophy

Hld	Leukodystrophy, Hypomyelinating

Leukodystrophy

Leukodystrophies

Pancreatic Agenesis

Partial Pancreatic Agenesis	Congenital Pancreatic Agenesis
Partial Agenesis Of The Pancreas	Agenesis, Pancreatic
Pancreatic Agenesis, Congenital

X-Linked Nephrolithiasis Type I

Nephrolithiasis 1	Nephrolithiasis X-Linked Recessive Type 1
Nphl1	X-Linked Nephrolithiasis With Renal Failure
X-Linked Recessive Urolithiasis Type 1	Xrn

Maturity-Onset Diabetes Of The Young, Type 4

Maturity-Onset Diabetes Of The Young Type 4	MODY4
Mody, Type Iv	Mody Type 4
Mody, Type 4	Maturity-Onset Diabetes Of The Young 4
Mody-4	Diabetes Of The Young, Maturity-Onset, Type 4
Maturity-Onset Diabetes Of The Young, Type Iv

Maturity-Onset Diabetes Of The Young, Type 3

Maturity-Onset Diabetes Of The Young Type 3	MODY3
Mody, Type Iii	Mody Type 3
Mody, Type 3	Maturity-Onset Diabetes Of The Young 3
Mody-3	Diabetes Of The Young, Maturity-Onset, Type 3

Spasticity

Neonatal Diabetes

Neonatal Diabetes Mellitus	Diabetes Mellitus Syndrome In Newborn Infant
Ndm

Maturity-Onset Diabetes Of The Young

MODY	Maturity Onset Diabetes Mellitus In Young
Mason-Type Diabetes	Mason Type Diabetes
Maturity Onset Diabetes Of The Young	Mody Syndrome
Diabetes Of The Young, Maturity-Onset

Maturity-Onset Diabetes Of The Young, Type 1

Maturity-Onset Diabetes Of The Young Type 1	MODY1
Mild Juvenile Diabetes Mellitus	Mody, Type I
Diabetes Mellitus Type 2	Mody Type 1
Mody, Type 1	Maturity-Onset Diabetes Of The Young 1
Mody-1	Diabetes Of The Young, Maturity-Onset, Type 1

Pancreatic Cystadenoma

Cystadenoma Of Pancreas

Permanent Neonatal Diabetes Mellitus

Pndm	Permanent Diabetes Mellitus Of Infancy
Pdmi	Neonatal Diabetes Mellitus, Permanent

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09336	NKX6-2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	NKX6-2	VGNC	VGNC:43837
Mus musculus	NKX6-2	MGD	MGI:1352738
Bos taurus	NKX6-2	VGNC	VGNC:106841
Macaca mulatta	NKX6-2	VGNC	VGNC:106081
Rattus norvegicus	NKX6-2	RGD	RGD:1307280

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