Gene Gene information from NCBI Gene database.
Entrez ID 3216
Gene name Homeobox B6
Gene symbol HOXB6
Synonyms (NCBI Gene)
HOX2HOX2BHU-2Hox-2.2
Chromosome 17
Chromosome location 17q21.32
Summary This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor
miRNA miRNA information provided by mirtarbase database.
288
miRTarBase ID miRNA Experiments Reference
MIRT609512 hsa-miR-6887-3p HITS-CLIP 23824327
MIRT609511 hsa-miR-6795-3p HITS-CLIP 23824327
MIRT609510 hsa-miR-6803-3p HITS-CLIP 23824327
MIRT609509 hsa-miR-4469 HITS-CLIP 23824327
MIRT609508 hsa-miR-6826-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
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: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
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
142961 5117 ENSG00000108511
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P17509
Protein name Homeobox protein Hox-B6 (Homeobox protein Hox-2.2) (Homeobox protein Hox-2B) (Homeobox protein Hu-2)
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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 147 203 Homeodomain Domain
Sequence
MSSYFVNSTFPVTLASGQESFLGQLPLYSSGYADPLRHYPAPYGPGPGQDKGFATSSYYP
PAGGGYGRAAPCDYGPAPAFYREKESACALSGADEQPPFHPEPRKSDCAQDKSVFGETEE
QKCSTPVYPWMQRMNSCNSSSFGPSGRRGRQTYTRYQTLELEKEFHYNRYLTRRRRIEIA
HALCLTERQIKIWFQNRRMKWKK
ESKLLSASQLSAEEEEEKQAE
Sequence length 224
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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)
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
DIVERTICULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HOXB6-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MECKEL SYNDROME TYPE 1 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME 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
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 1351762
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 32745807 Associate
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus BEFREE 22603795
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus Pubtator 22603795 Stimulate
★☆☆☆☆
Found in Text Mining only
CAMPOMELIC DYSPLASIA Campomelic Dysplasia BEFREE 8348155
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 29532406 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Small Cell Small cell carcinoma Pubtator 33664492 Associate
★☆☆☆☆
Found in Text Mining only
Celiac Disease Celiac disease Pubtator 27836013 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 10833444, 9126347
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 29532406 Associate
★☆☆☆☆
Found in Text Mining only