Log in to save this analysis

Save This Analysis

Gene Gene information from NCBI Gene database.
Entrez ID 3234
Gene name Homeobox D8
Gene symbol HOXD8
Synonyms (NCBI Gene)
HOX4HOX4EHOX5.4
Chromosome 2
Chromosome location 2q31.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
95 Show/Hide all (95)
miRTarBase ID miRNA Experiments Reference
MIRT002941 hsa-miR-196a-5p Western blot 19418581
MIRT002941 hsa-miR-196a-5p Review 20029422
MIRT004639 hsa-miR-196b-5p Review 20029422
MIRT002941 hsa-miR-196a-5p Luciferase reporter assay 15105502
MIRT086304 hsa-miR-4476 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21 Show/Hide all (21)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 1756725
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
142985 5139 ENSG00000175879
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P13378
Protein name Homeobox protein Hox-D8 (Homeobox protein Hox-4E) (Homeobox protein Hox-5.4)
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 198 → 254 Homeodomain Domain
Sequence
MSSYFVNPLYSKYKAAAAAAAAAGEAINPTYYDCHFAPEVGGRHAAAAAALQLYGNSAAG
FPHAPPQAHAHPHPSPPPSGTGCGGREGRGQEYFHPGGGSPAAAYQAAPPPPPHPPPPPP
PPPCGGIACHGEPAKFYGYDNLQRQPIFTTQQEAELVQYPDCKSSSGNIGEDPDHLNQSS
SPSQMFPWMRPQAAPGRRRGRQTYSRFQTLELEKEFLFNPYLTRKRRIEVSHALALTERQ
VKIWFQNRRMKWKK
ENNKDKFPVSRQEVKDGETKKEAQELEEDRAEGLTN
Sequence length 290
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 Reference Evidence Score
HOXD8-related disorder Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (28)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Benign Neoplasm Benign Neoplasm BEFREE 30194340
★★★★★
★☆☆☆☆
Found in Text Mining only
Biliary Tract Neoplasms Biliary tract neoplasms Pubtator 35177798 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 38130932 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 30941968 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 28457970
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 30194340 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 30194340
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 20127028, 28457970
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 28457970 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent Diabetes Mellitus BEFREE 7813807
★★★★★
★☆☆☆☆
Found in Text Mining only