• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
HOXD9 (HGNC:5140) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
homeobox D9
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
HOX4C, HOX4
Alias symbols
No aliases found
%HI
2.67(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.02(Read more about gnomAD pLI score)
LOEUF
1.07(Read more about gnomAD LOEUF score)
Cytoband
2q31.1
Genomic Coordinates
GRCh37/hg19: chr2:176987447-176989665 NCBI Ensembl UCSC
GRCh38/hg38: chr2:176122719-176124937 NCBI Ensembl UCSC
MANE Select Transcript
NM_014213.4 ENST00000249499.8 (Read more about MANE Select)
Function
Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-3779
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
02/22/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Goodman et al reported a 117kb deletion involving HOXD9-HOXD13 and EVX2 in an individual with synpolydactyly (PMID:11778160). PMID:22140379 and PMID:21068127 support the association of a deletion of the HOXD cluster with Split Hand/Foot Malformation type 5 (SHFM5). However, no loss of function mutations in HOXD9 alone have been reported in association with this phenotype.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
PMID:20648051 describes a duplication of the entire HOXD cluster and neighboring genes EVX2 and MTX2 associated with mesomelic dysplasia kantaputra type (MDK). PMID:20577005 supports this association with an additional family co-segregating MDK and a duplication of the HOXD cluster. However no focal duplication of HOXD9 alone has been reported to date.

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)