HOXD9 |
- 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)