ANKRD13B (ankyrin repeat domain 13B)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 124930
Gene name Ankyrin repeat domain 13B
Gene symbol ANKRD13B
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17q11.2
miRNA miRNA information provided by mirtarbase database.
498
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (498)
miRTarBase ID miRNA Experiments Reference
MIRT003948 hsa-miR-373-3p Microarray 15685193
MIRT040994 hsa-miR-505-3p CLASH 23622248
MIRT494798 hsa-miR-203a-3p PAR-CLIP 20371350
MIRT494797 hsa-miR-6085 PAR-CLIP 20371350
MIRT494796 hsa-miR-6813-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (17)
GO ID Ontology Definition Evidence Reference
GO:0002091 Process Negative regulation of receptor internalization IEA
GO:0002091 Process Negative regulation of receptor internalization IMP 22298428
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 22298428
GO:0005768 Component Endosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615124 26363 ENSG00000198720
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86YJ7
Protein name Ankyrin repeat domain-containing protein 13B
Protein function Ubiquitin-binding protein that specifically recognizes and binds 'Lys-63'-linked ubiquitin. Does not bind 'Lys-48'-linked ubiquitin. Positively regulates the internalization of ligand-activated EGFR by binding to the Ub moiety of ubiquitinated E
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 18 → 110 Ankyrin repeats (3 copies) Repeat
PF11904 GPCR_chapero_1 163 → 490 GPCR-chaperone Domain
Sequence
Sequence length 626
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (2)
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
CORONARY ARTERY DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1 Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Coronary Artery Disease Coronary artery disease GWASCAT_DG 29212778
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations