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Gene Gene information from NCBI Gene database.
Entrez ID 88455
Gene name Ankyrin repeat domain 13A
Gene symbol ANKRD13A
Synonyms (NCBI Gene)
ANKRD13NY-REN-25
Chromosome 12
Chromosome location 12q24.11
miRNA miRNA information provided by mirtarbase database.
209 Show/Hide all (209)
miRTarBase ID miRNA Experiments Reference
MIRT026934 hsa-miR-192-5p Microarray 19074876
MIRT054350 hsa-miR-204-5p Flow cytometryLuciferase reporter assayqRT-PCRWestern blot 23620728
MIRT705698 hsa-miR-651-3p HITS-CLIP 23313552
MIRT705696 hsa-miR-6871-3p HITS-CLIP 23313552
MIRT705697 hsa-miR-4274 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16 Show/Hide all (16)
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.
MIM HGNC e!Ensembl
615123 21268 ENSG00000076513
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IZ07
Protein name Ankyrin repeat domain-containing protein 13A (Protein KE03)
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
PF11904 GPCR_chapero_1 156 → 470 GPCR-chaperone Domain
PF13637 Ank_4 41 → 92 Repeat
Sequence
Sequence length 590
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
Familial cancer of breast Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Sarcoma Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma Likely benign ClinVar —
★★★★★
★★☆☆☆
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
Leukemia Myeloid Acute Myeloid leukemia Pubtator 34694569 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Ovarian neoplasm Pubtator 34839354 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only