NKX6-2 - NK6 homeobox 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 84504

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 References 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

Homeobox: Homeobox domain (149 - 205)

  • 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

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
Others NKX6-2 NCBI