HOXD13 (homeobox D13) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: HOXD13 (homeobox D13) Homo sapiens
Analyze
Symbol: HOXD13
Name: homeobox D13
RGD ID: 1318172
HGNC Page HGNC:5136
Description: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. Implicated in brachydactyly-syndactyly syndrome; clubfoot; cryptorchidism; and dysostosis (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BDE; BDSD; homeo box 4I; homeo box D13; homeobox protein Hox-4I; homeobox protein Hox-D13; HOX4I; SPD; SPD1; synpolydactyly
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382176,087,487 - 176,095,944 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2176,092,721 - 176,095,944 (+)EnsemblGRCh38hg38GRCh38
GRCh372176,957,449 - 176,960,672 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362176,665,778 - 176,668,912 (+)NCBINCBI36Build 36hg18NCBI36
Build 342176,783,038 - 176,785,307NCBI
Celera2170,566,680 - 170,569,816 (+)NCBICelera
Cytogenetic Map2q31.1NCBI
HuRef2168,835,017 - 168,838,150 (+)NCBIHuRef
CHM1_12176,963,384 - 176,966,518 (+)NCBICHM1_1
T2T-CHM13v2.02176,580,842 - 176,584,065 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISA)
nucleoplasm  (IDA)
nucleus  (IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe syndactyly  (IAGP)
2nd-5th toe middle phalangeal hypoplasia  (IAGP)
3-4 finger cutaneous syndactyly  (IAGP)
3-4 finger osseus syndactyly  (IAGP)
3-4 toe syndactyly  (IAGP)
4-5 metacarpal synostosis  (IAGP)
4-5 toe syndactyly  (IAGP)
6 metacarpals  (IAGP)
Abnormal cardiac septum morphology  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal finger morphology  (IAGP)
Abnormal intervertebral disk morphology  (IAGP)
Abnormal morphology of female internal genitalia  (IAGP)
Abnormal rib morphology  (IAGP)
Abnormal sacrum morphology  (IAGP)
Abnormality of the gallbladder  (IAGP)
Abnormality of the pancreas  (IAGP)
Abnormality of the urethra  (IAGP)
Absent distal interphalangeal creases  (IAGP)
Ambiguous genitalia  (IAGP)
Anal atresia  (IAGP)
Anencephaly  (IAGP)
Anorectal anomaly  (IAGP)
Aplasia/Hypoplasia of the distal phalanx of the hallux  (IAGP)
Aplasia/Hypoplasia of the lungs  (IAGP)
Aplasia/Hypoplasia of the radius  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bifid scrotum  (IAGP)
Brachydactyly  (IAGP)
Broad distal phalanx of the hallux  (IAGP)
Broad distal phalanx of the thumb  (IAGP)
Broad hallux  (IAGP)
Camptodactyly  (IAGP)
Camptodactyly of finger  (IAGP)
Carpal synostosis  (IAGP)
Cavernous hemangioma  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Congenital onset  (IAGP)
Contracture of the proximal interphalangeal joint of the 5th finger  (IAGP)
Cortical thinning of foot bones  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous finger syndactyly  (IAGP)
Ectopic kidney  (IAGP)
Enlarged proximal interphalangeal joints  (IAGP)
Finger syndactyly  (IAGP)
Frontal bossing  (IAGP)
Hallux valgus  (IAGP)
Hydronephrosis  (IAGP)
Hypoplasia of penis  (IAGP)
Hypospadias  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint contracture of the hand  (IAGP)
Joint hypermobility  (IAGP)
Large fontanelles  (IAGP)
Laryngomalacia  (IAGP)
Macrocephaly  (IAGP)
Male infertility  (IAGP)
Mesoaxial hand polydactyly  (IAGP)
Metacarpal synostosis  (IAGP)
Metatarsal synostosis  (IAGP)
Moderately short stature  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Multiple impacted teeth  (IAGP)
Non-midline cleft of the upper lip  (IAGP)
Occipital encephalocele  (IAGP)
Oligodactyly  (IAGP)
Oligozoospermia  (IAGP)
Omphalocele  (IAGP)
Penile hypospadias  (IAGP)
Polydactyly  (IAGP)
Polyhydramnios  (IAGP)
Postaxial foot polydactyly  (IAGP)
Posteriorly rotated ears  (IAGP)
Preaxial foot polydactyly  (IAGP)
Preaxial hand polydactyly  (IAGP)
Premature birth  (IAGP)
Renal agenesis  (IAGP)
Round face  (IAGP)
Short 5th metacarpal  (IAGP)
Short clavicles  (IAGP)
Short digit  (IAGP)
Short distal phalanx of finger  (IAGP)
Short fifth metatarsal  (IAGP)
Short metacarpal  (IAGP)
Short metatarsal  (IAGP)
Short middle phalanx of the 2nd finger  (IAGP)
Short middle phalanx of the 5th finger  (IAGP)
Short phalanx of finger  (IAGP)
Short stature  (IAGP)
Single umbilical artery  (IAGP)
Straight clavicles  (IAGP)
Symphalangism affecting the phalanges of the hand  (IAGP)
Syndactyly  (IAGP)
Toe syndactyly  (IAGP)
Tracheal stenosis  (IAGP)
Tracheoesophageal fistula  (IAGP)
Type D brachydactyly  (IAGP)
Type E brachydactyly  (IAGP)
Ulnar deviation of finger  (IAGP)
Upper limb asymmetry  (IAGP)
Vertebral segmentation defect  (IAGP)
Y-shaped metacarpals  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. Akarsu AN, etal., Hum Mol Genet. 1996 Jul;5(7):945-52.
2. The mouse Hoxd13(spdh) mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes. Bruneau S, etal., Dev Biol. 2001 Sep 15;237(2):345-53.
3. An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. Caronia G, etal., Development. 2003 Apr;130(8):1701-12.
4. Mutation analysis of HOXD13 gene in a Chinese pedigree with synpolydactyly. Dai L, etal., Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Jun;22(3):277-80.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. Goodman FR, etal., Proc Natl Acad Sci U S A. 1997 Jul 8;94(14):7458-63.
7. Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report. Jamsheer A, etal., BMC Med Genet. 2012 Jan 10;13:4. doi: 10.1186/1471-2350-13-4.
8. Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. Johnson D, etal., Am J Hum Genet. 2003 Apr;72(4):984-97. Epub 2003 Mar 14.
9. A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance. Kurban M, etal., J Hum Genet. 2011 Oct;56(10):701-6. doi: 10.1038/jhg.2011.84. Epub 2011 Aug 4.
10. Sonic hedgehog, BMP4, and Hox genes in the development of anorectal malformations in Ethylenethiourea-exposed fetal rats. Mandhan P, etal., J Pediatr Surg. 2006 Dec;41(12):2041-5.
11. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
15. A splice donor site mutation in HOXD13 underlies synpolydactyly with cortical bone thinning. Shi X, etal., Gene. 2013 Dec 15;532(2):297-301. doi: 10.1016/j.gene.2013.09.040. Epub 2013 Sep 18.
16. A novel non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese family. Wang B, etal., Clin Chim Acta. 2012 Jul 11;413(13-14):1049-52. doi: 10.1016/j.cca.2012.02.015. Epub 2012 Feb 22.
17. Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydactyly. Wang B, etal., Congenit Anom (Kyoto). 2017 Jan;57(1):4-7. doi: 10.1111/cga.12173.
18. A hypermorphic mouse Gli3 allele results in a polydactylous limb phenotype. Wang C, etal., Dev Dyn. 2007 Mar;236(3):769-76.
19. [Analysis of association between 5' HOXD gene and idiopathic congenital talipes equinovarus]. Wang LL, etal., Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Dec;22(6):653-6.
20. Allelic variants in HOX genes in cryptorchidism. Wang Y, etal., Birth Defects Res A Clin Mol Teratol. 2007 Apr;79(4):269-75.
21. Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. Zhao X, etal., Am J Hum Genet. 2007 Feb;80(2):361-71. Epub 2007 Jan 3.
22. A novel mutation outside homeodomain of HOXD13 causes synpolydactyly in a Chinese family. Zhou X, etal., Bone. 2013 Nov;57(1):237-41. doi: 10.1016/j.bone.2013.07.039. Epub 2013 Aug 12.
23. Maternal exposure to di-n-butyl phthalate (DBP) induces combined anorectal and urogenital malformations in male rat offspring. Zhu YP, etal., Reprod Toxicol. 2016 Jun;61:169-76. doi: 10.1016/j.reprotox.2016.04.007. Epub 2016 Apr 11.
Additional References at PubMed
PMID:1358459   PMID:1675198   PMID:1973146   PMID:2574852   PMID:7581388   PMID:8614804   PMID:9005557   PMID:9323126   PMID:9758628   PMID:11060466   PMID:11329013   PMID:11585930  
PMID:11778160   PMID:11857506   PMID:12357469   PMID:12414828   PMID:12900906   PMID:15617687   PMID:15696469   PMID:16087734   PMID:16222680   PMID:16861351   PMID:17656229   PMID:17853405  
PMID:18072967   PMID:18244901   PMID:18399101   PMID:18566322   PMID:18758158   PMID:19060004   PMID:19274049   PMID:19453261   PMID:19488988   PMID:19540081   PMID:19686284   PMID:19703996  
PMID:20386744   PMID:20974300   PMID:21068127   PMID:21873635   PMID:22161087   PMID:22373878   PMID:22406499   PMID:22613470   PMID:23958061   PMID:23984819   PMID:24789103   PMID:25609649  
PMID:26186194   PMID:26252089   PMID:26581570   PMID:26617782   PMID:26617867   PMID:27097363   PMID:27363011   PMID:28473536   PMID:28498426   PMID:28514442   PMID:28808656   PMID:29844126  
PMID:31611522   PMID:32076268   PMID:32789964   PMID:33162825   PMID:33275228   PMID:33521930   PMID:33533119   PMID:33961781   PMID:34079125   PMID:34159400   PMID:34189442   PMID:34272834  
PMID:34321240   PMID:34321610   PMID:34467619   PMID:34780483   PMID:34859533   PMID:35016035   PMID:35271311   PMID:35439318   PMID:35653119   PMID:36089195   PMID:36195906   PMID:36833285  
PMID:37427568   PMID:37704626   PMID:37776184  


Genomics

Comparative Map Data
HOXD13
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382176,087,487 - 176,095,944 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2176,092,721 - 176,095,944 (+)EnsemblGRCh38hg38GRCh38
GRCh372176,957,449 - 176,960,672 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362176,665,778 - 176,668,912 (+)NCBINCBI36Build 36hg18NCBI36
Build 342176,783,038 - 176,785,307NCBI
Celera2170,566,680 - 170,569,816 (+)NCBICelera
Cytogenetic Map2q31.1NCBI
HuRef2168,835,017 - 168,838,150 (+)NCBIHuRef
CHM1_12176,963,384 - 176,966,518 (+)NCBICHM1_1
T2T-CHM13v2.02176,580,842 - 176,584,065 (+)NCBIT2T-CHM13v2.0
Hoxd13
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39274,498,569 - 74,501,947 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl274,498,654 - 74,501,943 (+)EnsemblGRCm39 Ensembl
GRCm38274,668,225 - 74,671,603 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl274,668,310 - 74,671,599 (+)EnsemblGRCm38mm10GRCm38
MGSCv37274,506,367 - 74,509,655 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36274,469,149 - 74,470,975 (+)NCBIMGSCv36mm8
Celera276,338,416 - 76,341,706 (+)NCBICelera
Cytogenetic Map2C3NCBI
cM Map244.13NCBI
Hoxd13
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8379,978,077 - 79,981,393 (+)NCBIGRCr8
mRatBN7.2359,570,647 - 59,573,963 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl359,570,646 - 59,573,963 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx362,957,898 - 62,961,202 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0371,541,543 - 71,544,847 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0369,306,624 - 69,309,926 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0361,590,376 - 61,593,692 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl361,590,376 - 61,593,692 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0368,056,713 - 68,060,029 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4357,283,682 - 57,286,998 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1357,180,052 - 57,181,906 (+)NCBI
Celera359,093,007 - 59,096,323 (+)NCBICelera
Cytogenetic Map3q23NCBI
Hoxd13
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540320,568,314 - 20,575,579 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540320,568,314 - 20,575,579 (-)NCBIChiLan1.0ChiLan1.0
HOXD13
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21378,760,254 - 78,763,474 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B78,775,230 - 78,778,450 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B63,372,517 - 63,375,731 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B181,081,518 - 181,085,295 (+)NCBIpanpan1.1PanPan1.1panPan2
HOXD13
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13619,901,184 - 19,903,837 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3619,910,345 - 19,913,770 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03620,041,503 - 20,044,951 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3620,041,322 - 20,044,660 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13620,115,748 - 20,119,177 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03620,116,491 - 20,119,912 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03620,228,239 - 20,231,674 (+)NCBIUU_Cfam_GSD_1.0
Hoxd13
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303137,025,943 - 137,028,811 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365095,579,843 - 5,581,651 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365095,579,846 - 5,581,651 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HOXD13
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1581,893,972 - 81,896,944 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11581,893,997 - 81,897,965 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21591,361,348 - 91,364,513 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HOXD13
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11061,662,670 - 61,670,955 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1061,667,880 - 61,669,743 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040137,939,510 - 137,942,856 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hoxd13
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478713,233,932 - 13,238,503 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478713,233,932 - 13,237,210 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HOXD13
85 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000523.4(HOXD13):c.560C>G (p.Ala187Gly) single nucleotide variant not provided [RCV000722467] Chr2:176093450 [GRCh38]
Chr2:176958178 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.3(HOXD13):c.169_171GCG(15_22) (p.Ala71_Ser72insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) microsatellite Synpolydactyly 1 [RCV000015992] Chr2:176093059..176093061 [GRCh38]
Chr2:176957787..176957789 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_000523.4(HOXD13):c.323_336del (p.Pro108fs) deletion Synpolydactyly type 1 [RCV000015993] Chr2:176093213..176093226 [GRCh38]
Chr2:176957941..176957954 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_000523.4(HOXD13):c.834del (p.Lys279fs) deletion Synpolydactyly type 1 [RCV000015994] Chr2:176094532 [GRCh38]
Chr2:176959260 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_000523.4(HOXD13):c.782-2del deletion Synpolydactyly type 1 [RCV000015999] Chr2:176094478 [GRCh38]
Chr2:176959206 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_000523.4(HOXD13):c.209_210insGGCTGCGGCGGCGGCAGCGGC (p.Ala65_Ala71dup) insertion Syndactyly type 5 [RCV000016001]|Synpolydactyly type 1 [RCV001353047] Chr2:176093094..176093095 [GRCh38]
Chr2:176957822..176957823 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_000523.4(HOXD13):c.183_203del (p.Ala65_Ala71del) deletion Brachydactyly-syndactyly syndrome [RCV000016003] Chr2:176093062..176093082 [GRCh38]
Chr2:176957790..176957810 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_000523.4(HOXD13):c.164_184del (p.Gly55_Ala61del) deletion VACTERL association [RCV000016005] Chr2:176093053..176093073 [GRCh38]
Chr2:176957781..176957801 [GRCh37]
Chr2:2q31.1		 pathogenic|uncertain significance
NM_000523.4(HOXD13):c.168GGC[8] (p.Ala69_Ala71dup) microsatellite not provided [RCV000722414] Chr2:176093057..176093058 [GRCh38]
Chr2:176957785..176957786 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.964A>C (p.Ile322Leu) single nucleotide variant Brachydactyly type D [RCV000015996]|Brachydactyly type E [RCV004562212] Chr2:176094662 [GRCh38]
Chr2:176959390 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_000523.4(HOXD13):c.947C>G (p.Ser316Cys) single nucleotide variant Brachydactyly type D [RCV000015998]|Brachydactyly type E [RCV004562213]|Inborn genetic diseases [RCV004629141] Chr2:176094645 [GRCh38]
Chr2:176959373 [GRCh37]
Chr2:2q31.1		 pathogenic|likely pathogenic
NM_000523.4(HOXD13):c.916C>T (p.Arg306Trp) single nucleotide variant Brachydactyly type E1 [RCV003450643]|Synpolydactyly type 1 [RCV000016000] Chr2:176094614 [GRCh38]
Chr2:176959342 [GRCh37]
Chr2:2q31.1		 pathogenic|likely pathogenic
NM_000523.4(HOXD13):c.974A>G (p.Gln325Arg) single nucleotide variant Syndactyly type 5 [RCV000016002] Chr2:176094672 [GRCh38]
Chr2:176959400 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_000523.4(HOXD13):c.683G>T (p.Gly228Val) single nucleotide variant Synpolydactyly type 1 [RCV000016004] Chr2:176093573 [GRCh38]
Chr2:176958301 [GRCh37]
Chr2:2q31.1		 pathogenic
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2		 pathogenic
GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1 copy number loss See cases [RCV000050765] Chr2:172779876..177598000 [GRCh38]
Chr2:173644604..178462728 [GRCh37]
Chr2:173352850..178170974 [NCBI36]
Chr2:2q31.1-31.2		 pathogenic
NM_000523.4(HOXD13):c.204G>A (p.Ala68=) single nucleotide variant Brachydactyly type D [RCV001701539]|Brachydactyly type E1 [RCV001701695]|Syndactyly type 5 [RCV001701775]|Synpolydactyly type 1 [RCV001701774]|not provided [RCV001711461]|not specified [RCV000173147] Chr2:176093094 [GRCh38]
Chr2:176957822 [GRCh37]
Chr2:2q31.1		 benign
GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1 copy number loss See cases [RCV000052554] Chr2:172366752..176361187 [GRCh38]
Chr2:173231480..177225915 [GRCh37]
Chr2:172939726..176934161 [NCBI36]
Chr2:2q31.1		 pathogenic
GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1 copy number loss See cases [RCV000052555] Chr2:173408061..177702487 [GRCh38]
Chr2:174272789..178567215 [GRCh37]
Chr2:173981035..178275461 [NCBI36]
Chr2:2q31.1-31.2		 pathogenic
GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 copy number loss See cases [RCV000054122] Chr2:163965382..182195062 [GRCh38]
Chr2:164821892..183059789 [GRCh37]
Chr2:164530138..182768034 [NCBI36]
Chr2:2q24.3-32.1		 pathogenic
GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1 copy number loss See cases [RCV000054127] Chr2:170407688..186189894 [GRCh38]
Chr2:171264198..187054621 [GRCh37]
Chr2:170972444..186762866 [NCBI36]
Chr2:2q31.1-32.1		 pathogenic
GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1 copy number loss See cases [RCV000136850] Chr2:171429233..189179568 [GRCh38]
Chr2:172285743..190044294 [GRCh37]
Chr2:171993989..189752539 [NCBI36]
Chr2:2q31.1-32.2		 pathogenic
GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1 copy number loss See cases [RCV000136861] Chr2:174634502..189000964 [GRCh38]
Chr2:175499230..189865690 [GRCh37]
Chr2:175207476..189573935 [NCBI36]
Chr2:2q31.1-32.2		 pathogenic
GRCh38/hg38 2q31.1(chr2:176090995-176108288)x3 copy number gain See cases [RCV000136650] Chr2:176090995..176108288 [GRCh38]
Chr2:176955723..176973016 [GRCh37]
Chr2:176663969..176681262 [NCBI36]
Chr2:2q31.1		 uncertain significance
GRCh38/hg38 2q31.1(chr2:176075289-176156257)x1 copy number loss See cases [RCV000137847] Chr2:176075289..176156257 [GRCh38]
Chr2:176940017..177020985 [GRCh37]
Chr2:176648263..176729231 [NCBI36]
Chr2:2q31.1		 pathogenic
NM_000523.4(HOXD13):c.500A>G (p.Tyr167Cys) single nucleotide variant HOXD13-related disorder [RCV004553104]|not provided [RCV002057040]|not specified [RCV000202911] Chr2:176093390 [GRCh38]
Chr2:176958118 [GRCh37]
Chr2:2q31.1		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1 copy number loss See cases [RCV000139646] Chr2:171513047..177854080 [GRCh38]
Chr2:172369557..178718807 [GRCh37]
Chr2:172077803..178427053 [NCBI36]
Chr2:2q31.1-31.2		 pathogenic
GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1 copy number loss See cases [RCV000143597] Chr2:174236451..181188846 [GRCh38]
Chr2:175101179..182053573 [GRCh37]
Chr2:174809425..181761818 [NCBI36]
Chr2:2q31.1-31.3		 pathogenic
GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1 copy number loss See cases [RCV000143484] Chr2:176086763..193201970 [GRCh38]
Chr2:176951491..194066696 [GRCh37]
Chr2:176659737..193774941 [NCBI36]
Chr2:2q31.1-32.3		 pathogenic
NM_000523.4(HOXD13):c.32G>C (p.Gly11Ala) single nucleotide variant Synpolydactyly type 1 [RCV000210944]|not provided [RCV000489398] Chr2:176092922 [GRCh38]
Chr2:176957650 [GRCh37]
Chr2:2q31.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000523.4(HOXD13):c.683G>C (p.Gly228Ala) single nucleotide variant Synpolydactyly type 1 [RCV000210946] Chr2:176093573 [GRCh38]
Chr2:176958301 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_000523.4(HOXD13):c.917G>A (p.Arg306Gln) single nucleotide variant Synpolydactyly type 1 [RCV000210949] Chr2:176094615 [GRCh38]
Chr2:176959343 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_000523.4(HOXD13):c.742C>T (p.Gln248Ter) single nucleotide variant Synpolydactyly type 1 [RCV000210952] Chr2:176093632 [GRCh38]
Chr2:176958360 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_000523.4(HOXD13):c.916C>G (p.Arg306Gly) single nucleotide variant Synpolydactyly type 1 [RCV000210953] Chr2:176094614 [GRCh38]
Chr2:176959342 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_000523.4(HOXD13):c.781+1G>A single nucleotide variant Synpolydactyly type 1 [RCV000210954] Chr2:176093672 [GRCh38]
Chr2:176958400 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_000523.4(HOXD13):c.973C>A (p.Gln325Lys) single nucleotide variant Brachydactyly-syndactyly-oligodactyly syndrome [RCV000210948] Chr2:176094671 [GRCh38]
Chr2:176959399 [GRCh37]
Chr2:2q31.1		 pathogenic
GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 copy number gain See cases [RCV000239848] Chr2:156489430..182921298 [GRCh37]
Chr2:2q24.1-31.3		 pathogenic
NM_000523.4(HOXD13):c.135C>T (p.Ser45=) single nucleotide variant not provided [RCV000344768] Chr2:176093025 [GRCh38]
Chr2:176957753 [GRCh37]
Chr2:2q31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000523.4(HOXD13):c.41C>T (p.Ala14Val) single nucleotide variant not provided [RCV000865396]|not specified [RCV000290295] Chr2:176092931 [GRCh38]
Chr2:176957659 [GRCh37]
Chr2:2q31.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000523.4(HOXD13):c.912C>G (p.Asp304Glu) single nucleotide variant not provided [RCV000523419] Chr2:176094610 [GRCh38]
Chr2:176959338 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.894_896del (p.Asn298del) deletion HOXD13-related disorder [RCV004553345]|not provided [RCV000599232] Chr2:176094590..176094592 [GRCh38]
Chr2:176959318..176959320 [GRCh37]
Chr2:2q31.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000523.4(HOXD13):c.575_577del (p.Phe192del) deletion not provided [RCV000722813] Chr2:176093463..176093465 [GRCh38]
Chr2:176958191..176958193 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.183_191del (p.Ala69_Ala71del) deletion not provided [RCV001551446]|not specified [RCV000728719] Chr2:176093065..176093073 [GRCh38]
Chr2:176957793..176957801 [GRCh37]
Chr2:2q31.1		 benign|likely benign
NM_000523.4(HOXD13):c.674C>G (p.Ser225Cys) single nucleotide variant not provided [RCV000722418] Chr2:176093564 [GRCh38]
Chr2:176958292 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) single nucleotide variant Brachydactyly type E1 [RCV002502445]|Brachydactyly-syndactyly syndrome [RCV001253289]|Inborn genetic diseases [RCV000622345]|Polydactyly [RCV000415395]|Synpolydactyly [RCV002259339]|Synpolydactyly type 1 [RCV001197466]|not provided [RCV000438149] Chr2:176094518 [GRCh38]
Chr2:176959246 [GRCh37]
Chr2:2q31.1		 pathogenic|likely pathogenic|uncertain significance
NM_000523.4(HOXD13):c.-100C>A single nucleotide variant not provided [RCV001572290] Chr2:176092791 [GRCh38]
Chr2:176957519 [GRCh37]
Chr2:2q31.1		 likely benign
NM_000523.4(HOXD13):c.541A>G (p.Asn181Asp) single nucleotide variant HOXD13-related disorder [RCV004551496]|not provided [RCV002525468]|not specified [RCV000429985] Chr2:176093431 [GRCh38]
Chr2:176958159 [GRCh37]
Chr2:2q31.1		 likely benign
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_000523.4(HOXD13):c.296C>T (p.Pro99Leu) single nucleotide variant HOXD13-related disorder [RCV004756504]|Inborn genetic diseases [RCV003258352] Chr2:176093186 [GRCh38]
Chr2:176957914 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.296C>G (p.Pro99Arg) single nucleotide variant Brachydactyly type E1 [RCV002483560]|HOXD13-related disorder [RCV004553302]|not provided [RCV000584868] Chr2:176093186 [GRCh38]
Chr2:176957914 [GRCh37]
Chr2:2q31.1		 uncertain significance
GRCh37/hg19 2q31.1(chr2:175887486-176989647)x1 copy number loss See cases [RCV000515569] Chr2:175887486..176989647 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_000523.4(HOXD13):c.513A>G (p.Ser171=) single nucleotide variant not provided [RCV000595448] Chr2:176093403 [GRCh38]
Chr2:176958131 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.393C>T (p.Phe131=) single nucleotide variant not provided [RCV000870645]|not specified [RCV000594784] Chr2:176093283 [GRCh38]
Chr2:176958011 [GRCh37]
Chr2:2q31.1		 benign
NM_000523.4(HOXD13):c.260C>G (p.Ser87Trp) single nucleotide variant Inborn genetic diseases [RCV002540303]|not provided [RCV001760517] Chr2:176093150 [GRCh38]
Chr2:176957878 [GRCh37]
Chr2:2q31.1		 uncertain significance
GRCh37/hg19 2q31.1-31.2(chr2:173741558-178416381)x1 copy number loss not provided [RCV000682153] Chr2:173741558..178416381 [GRCh37]
Chr2:2q31.1-31.2		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3 copy number gain not provided [RCV000740654] Chr2:152409978..179325736 [GRCh37]
Chr2:2q23.3-31.2		 pathogenic
GRCh37/hg19 2q31.1-31.3(chr2:174238257-181604341)x1 copy number loss not provided [RCV000740710] Chr2:174238257..181604341 [GRCh37]
Chr2:2q31.1-31.3		 pathogenic
GRCh37/hg19 2q31.1(chr2:176950926-177047801)x3 copy number gain not provided [RCV000740716] Chr2:176950926..177047801 [GRCh37]
Chr2:2q31.1		 benign
GRCh37/hg19 2q31.1(chr2:176951487-177070756)x3 copy number gain not provided [RCV000740717] Chr2:176951487..177070756 [GRCh37]
Chr2:2q31.1		 benign
GRCh37/hg19 2q31.1-31.2(chr2:176794846-178494259) copy number loss not provided [RCV000767781] Chr2:176794846..178494259 [GRCh37]
Chr2:2q31.1-31.2		 pathogenic
NM_000523.4(HOXD13):c.314A>C (p.Lys105Thr) single nucleotide variant not provided [RCV000871362] Chr2:176093204 [GRCh38]
Chr2:176957932 [GRCh37]
Chr2:2q31.1		 benign|likely benign
NM_000523.4(HOXD13):c.267G>A (p.Ser89=) single nucleotide variant HOXD13-related disorder [RCV004549963]|not provided [RCV000871452] Chr2:176093157 [GRCh38]
Chr2:176957885 [GRCh37]
Chr2:2q31.1		 benign
GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1 copy number loss not provided [RCV000846537] Chr2:173538954..186401606 [GRCh37]
Chr2:2q31.1-32.1		 pathogenic
GRCh37/hg19 2q31.1-31.2(chr2:176310551-179092634)x1 copy number loss not provided [RCV000849015] Chr2:176310551..179092634 [GRCh37]
Chr2:2q31.1-31.2		 pathogenic
NM_000523.4(HOXD13):c.744_747del (p.Gln248fs) deletion Brachydactyly type E1 [RCV000850561] Chr2:176093631..176093634 [GRCh38]
Chr2:176958359..176958362 [GRCh37]
Chr2:2q31.1		 pathogenic
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 copy number loss not provided [RCV000848216] Chr2:167329586..192756373 [GRCh37]
Chr2:2q24.3-32.3		 pathogenic
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34		 pathogenic
NM_000523.4(HOXD13):c.709G>C (p.Gly237Arg) single nucleotide variant Synpolydactyly type 1 [RCV001196568] Chr2:176093599 [GRCh38]
Chr2:176958327 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.782-129G>A single nucleotide variant not provided [RCV001684748] Chr2:176094351 [GRCh38]
Chr2:176959079 [GRCh37]
Chr2:2q31.1		 benign
NM_000523.4(HOXD13):c.-39G>C single nucleotide variant not provided [RCV001614411] Chr2:176092852 [GRCh38]
Chr2:176957580 [GRCh37]
Chr2:2q31.1		 benign
NM_000523.4(HOXD13):c.782-94CA[19] microsatellite not provided [RCV001644337] Chr2:176094385..176094386 [GRCh38]
Chr2:176959113..176959114 [GRCh37]
Chr2:2q31.1		 benign
GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1 copy number loss not provided [RCV001005359] Chr2:174690039..195521582 [GRCh37]
Chr2:2q31.1-32.3		 pathogenic
GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1 copy number loss 2q24 microdeletion syndrome [RCV001263223] Chr2:163078055..182119617 [GRCh37]
Chr2:2q24.2-31.3		 pathogenic
NM_000523.4(HOXD13):c.781+51G>T single nucleotide variant not provided [RCV001658823] Chr2:176093722 [GRCh38]
Chr2:176958450 [GRCh37]
Chr2:2q31.1		 likely benign
NM_000523.4(HOXD13):c.*311C>T single nucleotide variant not provided [RCV001671026] Chr2:176095041 [GRCh38]
Chr2:176959769 [GRCh37]
Chr2:2q31.1		 benign
NM_000523.4(HOXD13):c.782-200A>G single nucleotide variant not provided [RCV001691128] Chr2:176094280 [GRCh38]
Chr2:176959008 [GRCh37]
Chr2:2q31.1		 benign
NM_000523.4(HOXD13):c.781+302A>C single nucleotide variant not provided [RCV001669279] Chr2:176093973 [GRCh38]
Chr2:176958701 [GRCh37]
Chr2:2q31.1		 benign
NM_000523.4(HOXD13):c.212_213insGGCGGCTGCGGCGGCGGCAGCGGCAGC (p.Ala63_Ala71dup) insertion Synpolydactyly type 1 [RCV000015992]|not provided [RCV001171814] Chr2:176093094..176093095 [GRCh38]
Chr2:176957822..176957823 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_000523.4(HOXD13):c.782-94CA[15] microsatellite not provided [RCV001584652] Chr2:176094386..176094387 [GRCh38]
Chr2:176959114..176959115 [GRCh37]
Chr2:2q31.1		 likely benign
NM_000523.4(HOXD13):c.937A>C (p.Thr313Pro) single nucleotide variant Abnormal finger morphology [RCV001090181]|not provided [RCV002290590] Chr2:176094635 [GRCh38]
Chr2:176959363 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.782-246C>T single nucleotide variant not provided [RCV001641868] Chr2:176094234 [GRCh38]
Chr2:176958962 [GRCh37]
Chr2:2q31.1		 benign
NM_000523.4(HOXD13):c.617A>G (p.Tyr206Cys) single nucleotide variant HOXD13-related disorder [RCV004550299]|not provided [RCV001528210] Chr2:176093507 [GRCh38]
Chr2:176958235 [GRCh37]
Chr2:2q31.1		 likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_000523.4(HOXD13):c.217G>A (p.Gly73Ser) single nucleotide variant Brachydactyly-syndactyly syndrome [RCV001336918]|Inborn genetic diseases [RCV002546800] Chr2:176093107 [GRCh38]
Chr2:176957835 [GRCh37]
Chr2:2q31.1		 uncertain significance
GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361) copy number loss 3-4 finger osseus syndactyly [RCV001352646] Chr2:171999572..182774361 [GRCh37]
Chr2:2q31.1-31.3		 pathogenic
NC_000002.12:g.176092473G>C single nucleotide variant not provided [RCV001643268] Chr2:176092473 [GRCh38]
Chr2:176957201 [GRCh37]
Chr2:2q31.1		 benign
NC_000002.12:g.176092502T>A single nucleotide variant not provided [RCV001612710] Chr2:176092502 [GRCh38]
Chr2:176957230 [GRCh37]
Chr2:2q31.1		 benign
NM_000523.4(HOXD13):c.782-94CA[18] microsatellite not provided [RCV001710614] Chr2:176094385..176094386 [GRCh38]
Chr2:176959113..176959114 [GRCh37]
Chr2:2q31.1		 benign
NM_000523.4(HOXD13):c.782-94CA[17] microsatellite not provided [RCV001710674] Chr2:176094385..176094386 [GRCh38]
Chr2:176959113..176959114 [GRCh37]
Chr2:2q31.1		 benign
NM_000523.4(HOXD13):c.241G>A (p.Glu81Lys) single nucleotide variant Inborn genetic diseases [RCV004040242]|not provided [RCV001755140] Chr2:176093131 [GRCh38]
Chr2:176957859 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.952A>G (p.Arg318Gly) single nucleotide variant not provided [RCV001755154] Chr2:176094650 [GRCh38]
Chr2:176959378 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.183_206dup (p.Ala64_Ala71dup) duplication Brachydactyly type E1 [RCV002503265] Chr2:176093058..176093059 [GRCh38]
Chr2:176957786..176957787 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_000523.4(HOXD13):c.78CTC[2] (p.Ser30del) microsatellite not provided [RCV001762795] Chr2:176092966..176092968 [GRCh38]
Chr2:176957694..176957696 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.613G>A (p.Gly205Ser) single nucleotide variant not provided [RCV001754677] Chr2:176093503 [GRCh38]
Chr2:176958231 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.859C>A (p.Gln287Lys) single nucleotide variant not provided [RCV001765694] Chr2:176094557 [GRCh38]
Chr2:176959285 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.203_204insA (p.Ala69fs) insertion not provided [RCV001782259] Chr2:176093093..176093094 [GRCh38]
Chr2:176957821..176957822 [GRCh37]
Chr2:2q31.1		 likely pathogenic
NM_000523.4(HOXD13):c.708del (p.Asn236fs) deletion Synpolydactyly type 1 [RCV001806412] Chr2:176093598 [GRCh38]
Chr2:176958326 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_000523.4(HOXD13):c.168GGC[6] (p.Ala71dup) microsatellite Brachydactyly-syndactyly syndrome [RCV001823053] Chr2:176093057..176093058 [GRCh38]
Chr2:176957785..176957786 [GRCh37]
Chr2:2q31.1		 likely benign
NM_000523.4(HOXD13):c.202G>C (p.Ala68Pro) single nucleotide variant Brachydactyly type E1 [RCV002489935]|not provided [RCV002042090] Chr2:176093092 [GRCh38]
Chr2:176957820 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.314_315del (p.Lys105fs) deletion not provided [RCV002002415] Chr2:176093203..176093204 [GRCh38]
Chr2:176957931..176957932 [GRCh37]
Chr2:2q31.1		 pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2q31.1(chr2:174673094-177275625)x3 copy number gain not provided [RCV001825257] Chr2:174673094..177275625 [GRCh37]
Chr2:2q31.1		 not provided
NM_000523.4(HOXD13):c.542_552del (p.Asn181fs) deletion not provided [RCV002037634] Chr2:176093428..176093438 [GRCh38]
Chr2:176958156..176958166 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_000523.4(HOXD13):c.170C>T (p.Ala57Val) single nucleotide variant Brachydactyly type E1 [RCV002482723]|not provided [RCV001882196] Chr2:176093060 [GRCh38]
Chr2:176957788 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.186_212dup (p.Ala63_Ala71dup) duplication HOXD13-related disorder [RCV004552132]|not provided [RCV001993196] Chr2:176093057..176093058 [GRCh38]
Chr2:176957785..176957786 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_000523.4(HOXD13):c.923G>A (p.Arg308His) single nucleotide variant Inborn genetic diseases [RCV004039591]|not provided [RCV001870191] Chr2:176094621 [GRCh38]
Chr2:176959349 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.168GGC[1] (p.Ala68_Ala71del) microsatellite not provided [RCV001925274] Chr2:176093058..176093069 [GRCh38]
Chr2:176957786..176957797 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.167G>A (p.Arg56Gln) single nucleotide variant not provided [RCV001901354] Chr2:176093057 [GRCh38]
Chr2:176957785 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.807C>T (p.Asp269=) single nucleotide variant not provided [RCV002208601] Chr2:176094505 [GRCh38]
Chr2:176959233 [GRCh37]
Chr2:2q31.1		 likely benign
NM_000523.4(HOXD13):c.192_200del (p.Ala69_Ala71del) deletion not provided [RCV002192846] Chr2:176093074..176093082 [GRCh38]
Chr2:176957802..176957810 [GRCh37]
Chr2:2q31.1		 likely benign
NM_000523.4(HOXD13):c.813C>T (p.Cys271=) single nucleotide variant not provided [RCV002176513] Chr2:176094511 [GRCh38]
Chr2:176959239 [GRCh37]
Chr2:2q31.1		 likely benign
NC_000002.11:g.(?_176957619)_(176973870_?)del deletion not provided [RCV003111345] Chr2:176957619..176973870 [GRCh37]
Chr2:2q31.1		 pathogenic
NC_000002.12:g.176088561C>T single nucleotide variant not provided [RCV002293026] Chr2:176088561 [GRCh38]
Chr2:176953289 [GRCh37]
Chr2:2q31.1		 benign
NM_000523.4(HOXD13):c.623A>T (p.Asp208Val) single nucleotide variant Synpolydactyly type 1 [RCV002264894] Chr2:176093513 [GRCh38]
Chr2:176958241 [GRCh37]
Chr2:2q31.1		 uncertain significance
Single allele deletion Split hand-foot malformation 5 [RCV002264898] Chr2:171524396..178694337 [GRCh37]
Chr2:2q31.1-31.2		 pathogenic
GRCh37/hg19 2q31.1-31.3(chr2:175143352-180999636)x1 copy number loss not provided [RCV002474570] Chr2:175143352..180999636 [GRCh37]
Chr2:2q31.1-31.3		 pathogenic
NM_000523.4(HOXD13):c.56C>G (p.Ala19Gly) single nucleotide variant Inborn genetic diseases [RCV003012664] Chr2:176092946 [GRCh38]
Chr2:176957674 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.474G>T (p.Ser158=) single nucleotide variant not provided [RCV002903600] Chr2:176093364 [GRCh38]
Chr2:176958092 [GRCh37]
Chr2:2q31.1		 likely benign
NM_000523.4(HOXD13):c.183_191dup (p.Ala71_Ser72insAlaAlaAla) duplication not provided [RCV002461614] Chr2:176093064..176093065 [GRCh38]
Chr2:176957792..176957793 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.1014C>T (p.Leu338=) single nucleotide variant not provided [RCV002996920] Chr2:176094712 [GRCh38]
Chr2:176959440 [GRCh37]
Chr2:2q31.1		 likely benign
NM_000523.4(HOXD13):c.192_209del (p.Ala66_Ala71del) deletion not provided [RCV003074553] Chr2:176093074..176093091 [GRCh38]
Chr2:176957802..176957819 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.158A>T (p.His53Leu) single nucleotide variant not provided [RCV002972418] Chr2:176093048 [GRCh38]
Chr2:176957776 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.202G>T (p.Ala68Ser) single nucleotide variant Inborn genetic diseases [RCV002887390] Chr2:176093092 [GRCh38]
Chr2:176957820 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.507C>A (p.Asp169Glu) single nucleotide variant Inborn genetic diseases [RCV002951883] Chr2:176093397 [GRCh38]
Chr2:176958125 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.290C>T (p.Ala97Val) single nucleotide variant not provided [RCV002594748] Chr2:176093180 [GRCh38]
Chr2:176957908 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.186_212del (p.Ala63_Ala71del) deletion not provided [RCV002917547] Chr2:176093058..176093084 [GRCh38]
Chr2:176957786..176957812 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.183_203dup (p.Ala71_Ser72insAlaAlaAlaAlaAlaAlaAla) duplication HOXD13-related disorder [RCV003479436]|not provided [RCV002630301] Chr2:176093061..176093062 [GRCh38]
Chr2:176957789..176957790 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_000523.4(HOXD13):c.164G>C (p.Gly55Ala) single nucleotide variant not provided [RCV002654496] Chr2:176093054 [GRCh38]
Chr2:176957782 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.466C>T (p.His156Tyr) single nucleotide variant Inborn genetic diseases [RCV003181340] Chr2:176093356 [GRCh38]
Chr2:176958084 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.922C>T (p.Arg308Cys) single nucleotide variant not provided [RCV003135618] Chr2:176094620 [GRCh38]
Chr2:176959348 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.355C>T (p.Pro119Ser) single nucleotide variant Inborn genetic diseases [RCV003220333] Chr2:176093245 [GRCh38]
Chr2:176957973 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.938C>G (p.Thr313Arg) single nucleotide variant not provided [RCV003221579] Chr2:176094636 [GRCh38]
Chr2:176959364 [GRCh37]
Chr2:2q31.1		 likely pathogenic
NM_000523.4(HOXD13):c.684dup (p.Tyr229fs) duplication not provided [RCV003228559] Chr2:176093570..176093571 [GRCh38]
Chr2:176958298..176958299 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_000523.4(HOXD13):c.371C>A (p.Ala124Glu) single nucleotide variant not provided [RCV003874256] Chr2:176093261 [GRCh38]
Chr2:176957989 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.183_206del (p.Ala64_Ala71del) deletion HOXD13-related disorder [RCV004554204]|not provided [RCV003436257] Chr2:176093059..176093082 [GRCh38]
Chr2:176957787..176957810 [GRCh37]
Chr2:2q31.1		 likely benign
NM_000523.4(HOXD13):c.536C>T (p.Pro179Leu) single nucleotide variant not provided [RCV003443391] Chr2:176093426 [GRCh38]
Chr2:176958154 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.125G>T (p.Gly42Val) single nucleotide variant not provided [RCV003441475] Chr2:176093015 [GRCh38]
Chr2:176957743 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.6C>A (p.Ser2Arg) single nucleotide variant not provided [RCV003849084] Chr2:176092896 [GRCh38]
Chr2:176957624 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.1005C>T (p.Val335=) single nucleotide variant not provided [RCV003693169] Chr2:176094703 [GRCh38]
Chr2:176959431 [GRCh37]
Chr2:2q31.1		 likely benign
NM_000523.4(HOXD13):c.389A>G (p.His130Arg) single nucleotide variant not provided [RCV003547474] Chr2:176093279 [GRCh38]
Chr2:176958007 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.781G>A (p.Gly261Arg) single nucleotide variant not provided [RCV003713654] Chr2:176093671 [GRCh38]
Chr2:176958399 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.805G>A (p.Asp269Asn) single nucleotide variant not provided [RCV003699739] Chr2:176094503 [GRCh38]
Chr2:176959231 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.195GGC[8] (p.Ala71_Ser72insAlaAlaAla) microsatellite not provided [RCV003724484] Chr2:176093082..176093083 [GRCh38]
Chr2:176957810..176957811 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.884A>G (p.Tyr295Cys) single nucleotide variant not provided [RCV003681946] Chr2:176094582 [GRCh38]
Chr2:176959310 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.449C>T (p.Ala150Val) single nucleotide variant not provided [RCV003735815] Chr2:176093339 [GRCh38]
Chr2:176958067 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.686A>G (p.Tyr229Cys) single nucleotide variant not provided [RCV003871690] Chr2:176093576 [GRCh38]
Chr2:176958304 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.94GCG[6] (p.Ala36_Ser37insAla) microsatellite not provided [RCV003737065] Chr2:176092982..176092983 [GRCh38]
Chr2:176957710..176957711 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.297G>T (p.Pro99=) single nucleotide variant not provided [RCV003867771] Chr2:176093187 [GRCh38]
Chr2:176957915 [GRCh37]
Chr2:2q31.1		 benign
NM_000523.4(HOXD13):c.607G>A (p.Val203Met) single nucleotide variant not provided [RCV003675237] Chr2:176093497 [GRCh38]
Chr2:176958225 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.94GCG[4] (p.Ala36del) microsatellite HOXD13-related disorder [RCV004554486] Chr2:176092983..176092985 [GRCh38]
Chr2:176957711..176957713 [GRCh37]
Chr2:2q31.1		 likely benign
NM_000523.4(HOXD13):c.168GGC[4] (p.Ala71del) microsatellite HOXD13-related disorder [RCV004554494] Chr2:176093058..176093060 [GRCh38]
Chr2:176957786..176957788 [GRCh37]
Chr2:2q31.1		 likely benign
NM_000523.4(HOXD13):c.189_209del (p.Ala65_Ala71del) deletion HOXD13-related disorder [RCV004552715] Chr2:176093074..176093094 [GRCh38]
Chr2:176957802..176957822 [GRCh37]
Chr2:2q31.1		 benign
NM_000523.4(HOXD13):c.117G>C (p.Gln39His) single nucleotide variant Inborn genetic diseases [RCV004402110] Chr2:176093007 [GRCh38]
Chr2:176957735 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.359C>A (p.Pro120Gln) single nucleotide variant Inborn genetic diseases [RCV004402112] Chr2:176093249 [GRCh38]
Chr2:176957977 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.744G>C (p.Gln248His) single nucleotide variant Inborn genetic diseases [RCV004402113] Chr2:176093634 [GRCh38]
Chr2:176958362 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.206_207insAGCGGCGGCTGCGGCGGCGGCAGC (p.Ala71_Ser72insAlaAlaAlaAlaAlaAlaAlaAla) insertion not provided [RCV004590643] Chr2:176093094..176093095 [GRCh38]
Chr2:176957822..176957823 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_000523.4(HOXD13):c.290C>G (p.Ala97Gly) single nucleotide variant Inborn genetic diseases [RCV004402111] Chr2:176093180 [GRCh38]
Chr2:176957908 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.212_213insTGCCGCCGCCGCAGCCGCCGCTGCCGC (p.Ala71_Ser72insAlaAlaAlaAlaAlaAlaAlaAlaAla) insertion not provided [RCV004597487] Chr2:176093100..176093101 [GRCh38]
Chr2:176957828..176957829 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_000523.4(HOXD13):c.160T>A (p.Ser54Thr) single nucleotide variant Inborn genetic diseases [RCV004633045] Chr2:176093050 [GRCh38]
Chr2:176957778 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.979C>T (p.Arg327Ter) single nucleotide variant HOXD13-related disorder [RCV004757065] Chr2:176094677 [GRCh38]
Chr2:176959405 [GRCh37]
Chr2:2q31.1		 likely pathogenic
NM_000523.4(HOXD13):c.204delinsAGCGGCGGCGGCA (p.Ala71_Ser72insAlaAlaAlaAla) indel HOXD13-related disorder [RCV004730536] Chr2:176093094 [GRCh38]
Chr2:176957822 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.584G>A (p.Gly195Asp) single nucleotide variant HOXD13-related disorder [RCV004732376] Chr2:176093474 [GRCh38]
Chr2:176958202 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.18C>G (p.Ser6Arg) single nucleotide variant not provided [RCV004768154] Chr2:176092908 [GRCh38]
Chr2:176957636 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_000523.4(HOXD13):c.858del (p.Gln287fs) deletion HOXD13-related disorder [RCV004730406] Chr2:176094556 [GRCh38]
Chr2:176959284 [GRCh37]
Chr2:2q31.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:548
Count of miRNA genes:414
Interacting mature miRNAs:465
Transcripts:ENST00000392539
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
PMC23843P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372176,957,536 - 176,958,040UniSTSGRCh37
Build 362176,665,782 - 176,666,286RGDNCBI36
Celera2170,566,684 - 170,567,188RGD
Cytogenetic Map2q31.1UniSTS
HuRef2168,835,021 - 168,835,526UniSTS
PMC23843P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372176,958,020 - 176,958,426UniSTSGRCh37
Build 362176,666,266 - 176,666,672RGDNCBI36
Celera2170,567,168 - 170,567,574RGD
Cytogenetic Map2q31.1UniSTS
HuRef2168,835,506 - 168,835,912UniSTS
PMC23843P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372176,959,152 - 176,959,486UniSTSGRCh37
Build 362176,667,398 - 176,667,732RGDNCBI36
Celera2170,568,302 - 170,568,636RGD
Cytogenetic Map2q31.1UniSTS
HuRef2168,836,636 - 168,836,970UniSTS
UniSTS:265598  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372176,959,219 - 176,959,452UniSTSGRCh37
Build 362176,667,465 - 176,667,698RGDNCBI36
Celera2170,568,369 - 170,568,602RGD
HuRef2168,836,703 - 168,836,936UniSTS
HOXD13_3043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372176,959,292 - 176,959,908UniSTSGRCh37
Build 362176,667,538 - 176,668,154RGDNCBI36
Celera2170,568,442 - 170,569,058RGD
HuRef2168,836,776 - 168,837,392UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
675 1155 1392 587 1349 279 754 1 89 239 64 1276 3080 2107 43 735 699 1243 422 34

Sequence


Ensembl Acc Id: ENST00000392539   ⟹   ENSP00000376322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2176,092,721 - 176,095,944 (+)Ensembl
RefSeq Acc Id: NM_000523   ⟹   NP_000514
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382176,092,721 - 176,095,944 (+)NCBI
GRCh372176,957,532 - 176,960,666 (+)ENTREZGENE
Build 362176,665,778 - 176,668,912 (+)NCBI Archive
HuRef2168,835,017 - 168,838,150 (+)ENTREZGENE
CHM1_12176,963,384 - 176,966,518 (+)NCBI
T2T-CHM13v2.02176,580,842 - 176,584,065 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011511068   ⟹   XP_011509370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382176,087,487 - 176,095,944 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011511069   ⟹   XP_011509371
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382176,087,487 - 176,090,610 (+)NCBI
Sequence:
RefSeq Acc Id: NP_000514   ⟸   NM_000523
- UniProtKB: P35453 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011509370   ⟸   XM_011511068
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011509371   ⟸   XM_011511069
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000376322   ⟸   ENST00000392539

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P35453-F1-model_v2 AlphaFold P35453 1-343 view protein structure

Promoters
RGD ID:6862098
Promoter ID:EPDNEW_H4214
Type:initiation region
Name:HOXD13_1
Description:homeobox D13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382176,092,801 - 176,092,861EPDNEW
RGD ID:6797592
Promoter ID:HG_KWN:36035
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:OTTHUMT00000255571
Position:
Human AssemblyChrPosition (strand)Source
Build 362176,665,766 - 176,666,317 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5136 AgrOrtholog
COSMIC HOXD13 COSMIC
Ensembl Genes ENSG00000128714 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000392539 ENTREZGENE
  ENST00000392539.4 UniProtKB/Swiss-Prot
Gene3D-CATH Homeodomain-like UniProtKB/Swiss-Prot
GTEx ENSG00000128714 GTEx
HGNC ID HGNC:5136 ENTREZGENE
Human Proteome Map HOXD13 Human Proteome Map
InterPro AP_axis_regulatory_Homeobox UniProtKB/Swiss-Prot
  Homeobox-like_sf UniProtKB/Swiss-Prot
  Homeobox_CS UniProtKB/Swiss-Prot
  Homeobox_dom UniProtKB/Swiss-Prot
  HoxA13_N UniProtKB/Swiss-Prot
KEGG Report hsa:3239 UniProtKB/Swiss-Prot
NCBI Gene 3239 ENTREZGENE
OMIM 142989 OMIM
PANTHER HOMEOBOX PROTEIN HOX-D13 UniProtKB/Swiss-Prot
  SEGMENTATION PROTEIN FUSHI TARAZU-LIKE PROTEIN UniProtKB/Swiss-Prot
Pfam Homeodomain UniProtKB/Swiss-Prot
  HoxA13_N UniProtKB/Swiss-Prot
PharmGKB PA29410 PharmGKB
PROSITE HOMEOBOX_1 UniProtKB/Swiss-Prot
  HOMEOBOX_2 UniProtKB/Swiss-Prot
SMART HOX UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot
UniProt A0A515EIZ4_HUMAN UniProtKB/TrEMBL
  A0A515EIZ6_HUMAN UniProtKB/TrEMBL
  HXD13_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE