HOXD13 gene homepage

General information
Gene symbol HOXD13
Gene name homeobox D13
Chromosome 2
Chromosomal band q31.1
Imprinted Unknown
Genomic reference NG_008137.1
Transcript reference NM_000523.3
Exon/intron information NM_000523.3 exon/intron table
Associated with diseases BD-D, BD-E1, BDSD, SDTY-5, SPD-1, VATER
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Guiomar Perez de Nanclares, Francesca Marta Elli and Giovanna Mantovani
Total number of public variants reported 18
Unique public DNA variants reported 18
Individuals with public variants 30
Hidden variants 1
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated October 05, 2016
Version HOXD13:161005

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000523.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/HOXD13
HGNC 5136
Entrez Gene 3239
PubMed articles HOXD13
OMIM - Gene 142989
OMIM - Diseases BD-D (brachydactyly, type D (BD-D))
BD-E1 (brachydactyly type E1 (BD-E1))
BDSD (brachydactyly-syndactyly syndrome (BDSD))
SDTY-5 (syndactyly, type V, with metacarpal and metatarsal fusion (SDTY-5))
SPD-1 (SDTY-2)
VATER (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial or renal dysplasia, assoc. (VATER))
HGMD HOXD13
GeneCards HOXD13
GeneTests HOXD13


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00009590 2 homeobox D13 NM_000523.3 NP_000514.2 18


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