ANKDD1B (ankyrin repeat and death domain containing 1B)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 728780
Gene name Ankyrin repeat and death domain containing 1B
Gene symbol ANKDD1B
Synonyms (NCBI Gene)
-
Chromosome 5
Chromosome location 5q13.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
GO ID Ontology Definition Evidence Reference
GO:0007165 Process Signal transduction IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
619920 32525 ENSG00000189045
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A6NHY2
Protein name Ankyrin repeat and death domain-containing protein 1B
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 72 → 164 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 171 → 265 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 208 → 298 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 272 → 364 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 305 → 394 Ankyrin repeats (3 copies) Repeat
Sequence 
MDPAGRARGQGATAGGLLLRAAAAAKGLREDLWGAAALPWRSLSRIPKREGLGEEDTAVA
GHELLLPNERSFQNAAKSNNLDLMEKLFEKKVNINVVNNMNRTALHFAVGRNHLSAVDFL
LKHKARVDVADKHGLTVIHLAAWSGSLEVMLMLVKAGADQRAKNQDGMSALHFATQSNHV
RIVEYLIQDLHLKDLNQPDEKGRKPFLLAAERGHVEMIEKLTFLNLHTSEKDKGGNTALH
LAAKHGHSPAVQVLLAQWQDINEMNELNISSLQIATRNGHASLVNFLLSENVDLHQKVEP
KESPLHLVVINNHITVVNSLLSAQHDIDILNQKQQTPLHVAADRGNVELVETLLKAGCDL
KAVDKQGKTALAVASRSNHSLVVGMLIKAERYYAWREEHHESIRDPSTGFTLTFKQDHSL
ETRHIRTLLWDLAYHQLKANEWQRLARSWNFTDDQIRAIEEQWSGNESFREHGHRALLIW
LHGTLMTQGDPAKQLYEELVHAGFPKLAEKTRHFKSKTDSNSKKCVVS
Sequence length 528
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Gene 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 (5)
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
ANKYLOSING SPONDYLITIS — Disgenet, GenCC
Disgenet, GenCC
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (5)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Colorectal Neoplasms Associate 34573430
★★★★★
★☆☆☆☆
Found in Text Mining only
Depressive Disorder Major Associate 29995844
★★★★★
★☆☆☆☆
Found in Text Mining only
Hypertension Associate 37451613
★★★★★
★☆☆☆☆
Found in Text Mining only
Migraine Disorders Associate 29995844, 32632093
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 34573430
★★★★★
★☆☆☆☆
Found in Text Mining only