NKX3-2 - NK3 homeobox 2 Gene

Also Known as SMMD; BAPX1; NKX3B; NKX3.2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 579

About NKX3-2

Cytogenetic location: 4p15.33 Genomic coordinates (GRCh38): 4:13,540,830-13,547,744 (from NCBI)

This gene has 1 transcript (splice variant), 188 orthologues, 13 paralogues and is associated with 3 phenotypes. Biased expression in spleen (RPKM 1.5), ovary (RPKM 0.7) and 10 other tissues.

Summary

This gene encodes a member of the NK family of homeobox-containing proteins. The encoded protein may play a role in skeletal development. [provided by RefSeq, Jul 2008]

NKX3-2 Products (1)

mRNA Protein Name
NM_001189.4 NP_001180.1 homeobox protein Nkx-3.2

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
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

NKX3-2 Protein Structure

Homeobox

Homeobox: Homeobox domain (207 - 263)

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

homeobox protein Nkx-3.2

  • bagpipe homeobox protein homolog 1

NKX3-2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
NKX3-2 P78367 POU6F2 Homo sapiens P78424
Y2H Prey Pooling
32296183
Intra
NKX3-2 P78367 POU6F2 Homo sapiens P78424
Y2H Array
32296183
Intra
NKX3-2 P78367 POU6F2 Homo sapiens P78424
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

  • SMMD
Metaphyseal Dysplasia

  • Bakwin-Krida Syndrome

  • Pyle'S Disease

  • Pyle-Cohn Syndrome
Connective Tissue Disease

  • Connective Tissue Diseases

  • Connective Tissue Disorder

  • Abnormality Of Connective Tissue

  • Disorder Of Connective Tissue

  • Connective Tissue Disorders
Bone Osteosarcoma

  • Osteosarcoma Of Bone

  • Primary Osteosarcoma Of Bone
Oculoauricular Syndrome

  • OCACS

  • Schorderet-Munier-Franceschetti Syndrome

  • Microphthalmia, Microcornea, Anterior Segment Dysgenesis, Cataract, Ocular Coloboma, Retinal Pigment Epithelium Abnormalities, Rod-Cone Dystrophy, And Anomalies Of The External Ear

  • Oculoauricular Syndrome, Schorderet Type

  • Oculo-Auricular Syndrome
Syngnathia

  • Cleft Palate-Lateral Synechia Syndrome

  • Cpls Syndrome

  • Cleft Palate Lateral Synechia Syndrome
Craniofacial Microsomia

  • Goldenhar Syndrome

  • Hemifacial Microsomia

  • Oculoauriculovertebral Spectrum

  • Oavs

  • Oculo-Auriculo-Vertebral Spectrum

  • CFM

  • Oav Dysplasia

  • Facioauriculovertebral Sequence

  • Fav Sequence

  • First And Second Branchial Arch Syndrome

  • Otomandibular Dysostosis

  • Hfm

  • Oculoauriculovertebral Dysplasia

  • Facio-Auriculo-Vertebral Spectrum

  • Facioauriculovertebral Dysplasia

  • Oculo-Auriculo-Vertebral Dysplasia

  • First Arch Syndrome

  • Oav Dysplasia

  • Goldenhar Disease

  • Expanded Spectrum Hemifacial Microsomia

  • Expanded Spectrum Of Hemifacial Microsomia

  • Oculoauriculovertebral Syndrome

  • Oavd

  • Asymmetric Hypoplasia Of Facial Structures

  • Auriculobranchiogenic Dysplasia

  • Fav

  • First And Second Pharyngeal Arch Syndromes

  • Goldenhar-Gorlin Syndrome

  • Lateral Facial Dysplasia

  • Oav Complex

  • Oral-Mandibular-Auricular Syndrome

  • Unilateral Intrauterine Facial Necrosis

  • Unilateral Mandibulofacial Dysostosis

  • Oav Spectrum

  • Oculoauricular Vertebral Dysplasia

  • Microsomia, Hemifacial

  • Goldenhar Syndrome With Ipsilateral Radial Defect
Campomelic Dysplasia

  • Acampomelic Campomelic Dysplasia

  • Camptomelic Dysplasia

  • Campomelic Dysplasia With Autosomal Sex Reversal

  • Cmpd

  • CMD1

  • Cmpd1

  • Cmpd1/Sra1

  • Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal

  • Campomelic Dwarfism

  • Campomelic Syndrome

  • Dysplasia, Campomelic

  • Chronic Myeloproliferative Disorder

  • Familial Dilated Cardiomyopathy
Cleidocranial Dysplasia

  • Cleidocranial Dysostosis

  • CLCD

  • Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only

  • Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly

  • CCD

  • Marie-Sainton Disease

  • Dysplasia Cleidocranial

  • Dento-Osseous Dysplasia

  • Marie-Sainton Syndrome

  • Dysplasia, Cleidocranial
Osteochondrodysplasia

  • Skeletal Dysplasia

  • Chondrodystrophy

  • Congenital Anomaly Of Cartilage

  • Osteochondrodysplasias

  • Cartilage Development Disorder

  • Osteochondrodysplasia Syndrome

  • Dysplasia, Skeletal

  • Mucopolysaccharidosis Iv
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-RS09334 NKX3-2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus NKX3-2 VGNC VGNC:32106
Canis familiaris NKX3-2 VGNC VGNC:43836
Rattus norvegicus NKX3-2 RGD RGD:1584617
Mus musculus NKX3-2 MGD MGI:108015
Macaca mulatta NKX3-2 VGNC VGNC:107186
Felis catus NKX3-2 VGNC VGNC:78534
Others NKX3-2 NCBI