NKX3-2 NK3 homeobox 2
Gene ID: 579, updated on 5-Mar-2024Gene type: protein coding
Also known as: SMMD; BAPX1; NKX3B; NKX3.2
- See all available tests in GTR for this gene
- Go to complete Gene record for NKX3-2
- Go to Variation Viewer for NKX3-2 variants
Summary
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 animal organ development; embryonic skeletal system development; and intestinal epithelial cell development. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years. GeneReviews: Not available | |
| Spondylo-megaepiphyseal-metaphyseal dysplasia | See labs |
Genomic context
- Location:
- 4p15.33
- Sequence:
- Chromosome: 4; NC_000004.12 (13540830..13547744, complement)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NKX3-2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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