NKX2-3 - NK2 homeobox 3 Gene

Also Known as CSX3; NK2.3; NKX2C; NKX2.3; NKX4-3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 159296

About NKX2-3

Cytogenetic location: 10q24.2 Genomic coordinates (GRCh38): 10:99,532,942-99,536,524 (from NCBI)

This gene has 1 transcript (splice variant), 237 orthologues and 13 paralogues. Biased expression in spleen (RPKM 11.9), small intestine (RPKM 4.8) and 5 other tissues.

Summary

This gene encodes a homeodomain-containing transcription factor. The encoded protein is a member of the NKX family of homeodomain transcription factors. Studies of similar proteins in mouse and rat have indicated a potential role in cellular differentiation.[provided by RefSeq, Mar 2010]

NKX2-3 Products (1)

mRNA Protein Name
NM_145285.3 NP_660328.2 homeobox protein Nkx-2.3
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

NKX2-3 Protein Structure

Homeobox

Homeobox: Homeobox domain (149 - 205)

  • 0
  • 100
  • 200
  • 300
  • 364 a.a.
Protein Preferred Names Protein Names

homeobox protein Nkx-2.3

  • NK2 transcription factor related, locus 3

Related Diseases

Diseases Alias
Cataract 21, Multiple Types
  • Cataract 21 Multiple Types

  • CTRCT21

  • Cca4

  • Cataract 21, Multiple Types, With Or Without Microcornea

  • Cataract, Pulverulent, Juvenile-Onset

  • Congenital Cataract Cerulean Type 4

  • Cataract, Congenital, Cerulean Type, 4

  • Cataract 21 Multiple Types With Or Without Microcornea

  • Cataract, Pulverulent Or Cerulean, With Or Without Microcornea

  • Cataract Pulverulent Juvenile-Onset

  • Congenital Cataract Blue Dot Type 4

  • Cataract, Type 21, Multiple Types

Thyroid Malformation
Inflammatory Bowel Disease 5
  • IBD5

Bestiality
  • Zoophilia

Amme Complex
  • Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis

  • ATS-MR

  • Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome

  • Chromosome Xq22.3 Telomeric Deletion Syndrome

  • Amme Syndrome

  • Alport Syndrome With Intellectual Disability, Midface Hypoplasia And Elliptocytosis

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

Orthologs Information

Species Symbol Source ID
Canis familiaris NKX2-3 VGNC VGNC:53002
Rattus norvegicus NKX2-3 RGD RGD:1308521
Macaca mulatta NKX2-3 VGNC VGNC:75353
Bos taurus NKX2-3 VGNC VGNC:32100
Mus musculus NKX2-3 MGD MGI:97348
Others NKX2-3 NCBI