Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10481
Gene name Gene Name - the full gene name approved by the HGNC.
Homeobox B13
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HOXB13
Synonyms (NCBI Gene) Gene synonyms aliases
HPC9, PSGD
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HPC9
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.32
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a transcription factor that belongs to the homeobox gene family. Genes of this family are highly conserved among vertebrates and essential for vertebrate embryonic development. This gene has been implicated to play a role in fetal skin d
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs77179853 A>- Conflicting-interpretations-of-pathogenicity, uncertain-significance Frameshift variant, stop lost, terminator codon variant
rs138213197 C>T Pathogenic, pathogenic-likely-pathogenic, risk-factor, likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019730 hsa-miR-375 Microarray 20215506
MIRT490314 hsa-miR-1321 PAR-CLIP 23592263
MIRT490312 hsa-miR-4739 PAR-CLIP 23592263
MIRT490311 hsa-miR-4756-5p PAR-CLIP 23592263
MIRT490310 hsa-miR-6732-5p PAR-CLIP 23592263
Transcription factors
Transcription factor Regulation Reference
EZH2 Repression 22808286
HDAC4 Repression 19013255
YY1 Repression 19013255
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 15126340
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604607 5112 ENSG00000159184
Protein
UniProt ID Q92826
Protein name Homeobox protein Hox-B13
Protein 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. Binds preferentially to methylated DNA (PubMed:28473536). {ECO:0000
PDB 2CRA , 5EDN , 5EEA , 5EF6 , 5EG0 , 5EGO , 5NO6 , 7PSX , 8BYX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12284 HoxA13_N 12 123 Hox protein A13 N terminal Family
PF00046 Homeodomain 217 273 Homeodomain Domain
Sequence
MEPGNYATLDGAKDIEGLLGAGGGRNLVAHSPLTSHPAAPTLMPAVNYAPLDLPGSAEPP
KQCHPCPGVPQGTSPAPVPYGYFGGGYYSCRVSRSSLKPCAQAATLAAYPAETPTAGEEY
PSR
PTEFAFYPGYPGTYQPMASYLDVSVVQTLGAPGEPRHDSLLPVDSYQSWALAGGWNS
QMCCQGEQNPPGPFWKAAFADSSGQHPPDACAFRRGRKKRIPYSKGQLRELEREYAANKF
ITKDKRRKISAATSLSERQITIWFQNRRVKEKK
VLAKVKNSATP
Sequence length 284
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
24239177
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
24239177
Colonic neoplasms Malignant tumor of colon rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483
Marfan syndrome Mammary Carcinoma, Human rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465
View all (942 more)
24239177
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 31882852, 34609407
Adenocarcinoma of Lung Associate 31558162
Breast Neoplasms Stimulate 15193263
Breast Neoplasms Associate 18499701, 19250546, 21559019, 21574054, 22293681, 23099437, 23497539, 23812955, 25640367, 26728744, 27424772
Calcinosis Cutis Associate 29716922, 35031163, 36446039
Carcinogenesis Associate 19793339, 25743797, 26108461, 32376288
Carcinoma Basal Cell Associate 32830201
Carcinoma Hepatocellular Associate 25031711
Carcinoma Renal Cell Associate 33619226, 39331921
Colorectal Neoplasms Inhibit 15928669