Gene Gene information from NCBI Gene database.
Entrez ID 10481
Gene name Homeobox B13
Gene symbol HOXB13
Synonyms (NCBI Gene)
HPC9PSGD
Chromosome 17
Chromosome location 17q21.32
Summary 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.
2
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.
114
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 factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
EZH2 Repression 22808286
HDAC4 Repression 19013255
YY1 Repression 19013255
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
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
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604607 5112 ENSG00000159184
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
35
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Breast and/or ovarian cancer Likely pathogenic; Pathogenic rs138213197 RCV003492500
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carcinoma of pancreas Likely pathogenic; Pathogenic rs138213197 RCV001391199
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial prostate cancer Likely pathogenic; Pathogenic rs138213197 RCV001582580
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer Pathogenic rs2509512772 RCV003164703
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BILIARY TRACT CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31037158
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 28484843
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 31128548
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 25785959
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 26108461
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 15193263, 17308270, 17453342, 18499701, 18794098, 20649975, 21999244, 23099437, 23497539, 23832664, 24264313, 26728744, 27424772, 29471853
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma CTD_human_DG 24239177
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 15193263 Stimulate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 18499701, 19250546, 21559019, 21574054, 22293681, 23099437, 23497539, 23812955, 25640367, 26728744, 27424772 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinogenesis Carcinogenesis Pubtator 19793339, 25743797, 26108461, 32376288 Associate
★☆☆☆☆
Found in Text Mining only