NKX3-2
Homeobox protein Nkx-3.2
Also known as: BAPX1, NKX3.2, NKX32_HUMAN, NKX3B
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P78367
- Gene
- NKX3-2
- Ensembl
- ENSG00000109705
- Chromosome
- 4
- Canonical length
- 333 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in cell differentiation; negative regulation of chondrocyte differentiation; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including intestinal epithelial cell development; middle ear morphogenesis; and skeletal system development. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
333 residues, UniProt reviewed canonical sequence.
>P78367|NKX3-2
1 MAVRGANTLT SFSIQAILNK KEERGGLAAP EGRPAPGGTA ASVAAAPAVC CWRLFGERDA
61 GALGGAEDSL LASPAGTRTA AGRTAESPEG WDSDSALSEE NESRRRCADA RGASGAGLAG
121 GSLSLGQPVC ELAASKDLEE EAAGRSDSEM SASVSGDRSP RTEDDGVGPR GAHVSALCSG
181 AGGGGGSGPA GVAEEEEEPA APKPRKKRSR AAFSHAQVFE LERRFNHQRY LSGPERADLA
241 ASLKLTETQV KIWFQNRRYK TKRRQMAADL LASAPAAKKV AVKVLVRDDQ RQYLPGEVLR
301 PPSLLPLQPS YYYPYYCLPG WALSTCAAAA GTQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NKX3-2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.67
- Highest tissue expression
- 22 nTPM
Expression across tissuesHPA
Tissue
- colon: 22 nTPM
- spleen: 2.2 nTPM
- adipose tissue: 2.1 nTPM
- small intestine: 2.1 nTPM
- stomach: 2.1 nTPM
- vagina: 1.6 nTPM
Single-cell type
- breast lactating cells: 12 nCPM
- fibro-adipogenic progenitors: 2 nCPM
- pituitary stem cells: 2 nCPM
- late primary spermatocytes: 1.4 nCPM
- late spermatids: 1.1 nCPM
- decidual stromal cells: 0.7 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 0.1 nTPM
- choroid plexus: 0.1 nTPM
- amygdala: 0 nTPM
- basal ganglia: 0 nTPM
- cerebral cortex: 0 nTPM
- hippocampal formation: 0 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NKX3-2.
Disease | AllUniProt
Conditions NKX3-2 is implicated in, by any mechanism.
- Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) MIM:613330
Disease | GeneticClinVar
9 pathogenic / likely-pathogenic of 207 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Spondylo-megaepiphyseal-metaphyseal dysplasia
- Connective tissue disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.63
- gnomAD pLI
- 0.64
- gnomAD missense Z
- -0.6
- DepMap mean gene effect
- 0.03
- DepMap dependency class
- selective
OntologyGO
Biological processes
- animal organ formation
- cell differentiation
- determination of left/right symmetry
- embryonic skeletal system development
- intestinal epithelial cell development
- middle ear morphogenesis
- negative regulation of apoptotic process
- negative regulation of chondrocyte differentiation
- pancreas development
- regulation of transcription by RNA polymerase II
- skeletal system development
- skeletal system morphogenesis
- spleen development
- transcription by RNA polymerase II
Molecular functions
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NKX3-2 as an antibody target. Whether an autoantibody or antibody against NKX3-2 could matter depends on whether native NKX3-2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NKX3-2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NKX3-2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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