NKX3-2 - NK3 homeobox 2 Gene

Homo sapiens

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

Gene ID: 579 | Gene type: protein coding

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	Reference	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

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09334	NKX3-2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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