NKX3-2

NK3 homeobox 2 also known as NKX3-2 is a human gene. It is a homolog of bagpipe (bap) in Drosophila and therefore also known as Bapx1 (bagpipe homeobox homolog 1). The protein encoded by this gene is a homeodomain containing transcription factor.^[5]

NKX3-2
Identifiers
Aliases	NKX3-2, NK3 homeobox 2, BAPX1, NKX3.2, NKX3B, SMMD
External IDs	OMIM: 602183; MGI: 108015; HomoloGene: 68168; GeneCards: NKX3-2; OMA:NKX3-2 - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4p15.33 Start 13,540,830 bp[1] End 13,544,508 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 B3|5 22.58 cM Start 41,918,826 bp[2] End 41,921,844 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibia muscle layer of sigmoid colon cartilage tissue tendon of biceps brachii transverse colon gonad spleen smooth muscle tissue embryo rectum Top expressed in sclerotome female urethra male urethra embryo somite lateral plate mesoderm embryo primordial pancreas Meckel's cartilage vertebra More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity Cellular component nucleus Biological process animal organ development skeletal system development regulation of transcription, DNA-templated digestive system development intestinal epithelial cell development skeletal system morphogenesis negative regulation of apoptotic process negative regulation of transcription by RNA polymerase II spleen development transcription by RNA polymerase II transcription, DNA-templated embryonic skeletal system development animal organ formation determination of left/right symmetry negative regulation of chondrocyte differentiation middle ear morphogenesis pancreas development cell differentiation positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 579 12020 Ensembl ENSG00000109705 ENSMUSG00000049691 UniProt P78367 P97503 RefSeq (mRNA) NM_001189 NM_007524 RefSeq (protein) NP_001180 NP_031550 Location (UCSC) Chr 4: 13.54 – 13.54 Mb Chr 5: 41.92 – 41.92 Mb PubMed search [3] [4]
Wikidata
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Function

NKX3-2 plays a role in the development of the axial and limb skeleton.^[6] Mutations disrupting the function of this gene are associated with spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD).^[7] Nkx3-2 in mice also regulates patterning in the middle ear.^[8] Two small bones in the middle ear, the malleus and incus, are homologous to the articular and quadrate, the bones of the proximal jaw joint in fish and other non-mammalian jawed vertebrates. NKX3-2 expression is required to pattern the articulated joint between these jaw bones, as knockdowns or knockouts of this gene result in the loss of the jaw joint in zebrafish,^[9] chicken,^[10] and amphibians.^[11] Overexpression of this gene results in the development of ectopic mandibular cartilages in zebrafish ^[12] and amphibians.^[13]