HOXD13 (homeobox D13)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3239
Gene name Gene Name - the full gene name approved by the HGNC.
Homeobox D13
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HOXD13
Synonyms (NCBI Gene) Gene synonyms aliases
BDE, BDSD, HOX4I, SPD, SPD1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene cluster
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(18)
SNP ID Visualize variation Clinical significance Consequence
rs28928891 A>C,G Pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
rs28928892 C>A,G Pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
rs28933082 C>G,T Pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
rs104893635 A>G Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
rs121912541 G>A,C,T Pathogenic Intron variant, missense variant, coding sequence variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(71)
miRTarBase ID miRNA Experiments Reference
MIRT027146 hsa-miR-103a-3p Sequencing 20371350
MIRT051222 hsa-miR-16-5p CLASH 23622248
MIRT047651 hsa-miR-10a-5p CLASH 23622248
MIRT045586 hsa-miR-149-5p CLASH 23622248
MIRT042641 hsa-miR-423-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(42)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
142989 5136 ENSG00000128714
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID P35453
Protein name Homeobox protein Hox-D13 (Homeobox protein Hox-4I)
Protein function Sequence-specific transcription factor that binds gene promoters and activates their transcription (PubMed:24789103). Part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axi
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12284 HoxA13_N 79 → 181 Hox protein A13 N terminal Family
PF00046 Homeodomain 277 → 333 Homeodomain Domain
Sequence 
MSRAGSWDMDGLRADGGGAGGAPASSSSSSVAAAAASGQCRGFLSAPVFAGTHSGRAAAA
AAAAAAAAAAASGFAYPGTSERTGSSSSSSSSAVVAARPEAPPAKECPAPTPAAAAAAPP
SAPALGYGYHFGNGYYSCRMSHGVGLQQNALKSSPHASLGGFPVEKYMDVSGLASSSVPA
NEVPARAKEVSFYQGYTSPYQHVPGYIDMVSTFGSGEPRHEAYISMEGYQSWTLANGWNS
QVYCTKDQPQGSHFWKSSFPGDVALNQPDMCVYRRGRKKRVPYTKLQLKELENEYAINKF
INKDKRRRISAATNLSERQVTIWFQNRRVKDKKIVSKLKDTVS
Sequence length 343
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Brachydactyly Brachydactyly type E1 rs28933082 N/A
Syndactyly Syndactyly type 5 rs878854345, rs104893635 N/A
Synpolydactyly synpolydactyly type 1 rs121912541, rs878854400, rs878854343, rs879255265, rs878854344, rs886037831, rs764838478, rs28933082, rs200750564, rs878854345 N/A
Brachydactyly-Syndactyly Syndrome brachydactyly-syndactyly syndrome rs200750564, rs878854346 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
VACTERL Association vacterl association N/A N/A ClinVar
Show/Hide Text Mining Associations (67)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Astrocytoma Associate 19488988
Ataxia Associate 17236141
Brachydactyly Associate 12649808, 17236141
Brachydactyly Syndactyly Syndrome Associate 17236141
Brachydactyly Type D Associate 12649808, 17236141
Brachydactyly Type E Associate 22233338, 31283647
Breast Neoplasms Associate 19488988, 26617782, 26617867, 26918343
Carcinogenesis Associate 19488988
Carcinoma Hepatocellular Associate 30506460
Carcinoma Hepatocellular Stimulate 34910956