NKX3-2
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
NKX3-2 (HGNC:951) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
NK3 homeobox 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
BAPX1
Alias symbols
NKX3B, NKX3.2
%HI
53.62(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.21(Read more about gnomAD LOEUF score)
Cytoband
4p15.33
Genomic Coordinates
GRCh37/hg19: chr4:13542454-13546132 NCBI Ensembl UCSC
GRCh38/hg38: chr4:13540830-13547744 NCBI Ensembl UCSC
MANE Select Transcript
NM_001189.4 ENST00000382438.6 (Read more about MANE Select)
Function
Transcriptional repressor that acts as a negative regulator of chondrocyte maturation. PLays a role in distal stomach development; required for proper antral-pyloric morphogenesis and development of antral-type epithelium. In concert with GSC, defines the structural components of the middle ear; required for tympanic ring and gonium development and in the regulation of the width of the malleus (By similarity). {ECO:0000250}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-11566
ClinGen Curation ID:
CCID:007558
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • spondylo-megaepiphyseal-metaphyseal dysplasia Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000004.11) (NC_000004.12)