Gene Gene information from NCBI Gene database.
Entrez ID 348094
Gene name Ankyrin repeat and death domain containing 1A
Gene symbol ANKDD1A
Synonyms (NCBI Gene)
-
Chromosome 15
Chromosome location 15q22.31
miRNA miRNA information provided by mirtarbase database.
30
miRTarBase ID miRNA Experiments Reference
MIRT781757 hsa-miR-186 CLIP-seq
MIRT781758 hsa-miR-34b CLIP-seq
MIRT781759 hsa-miR-3690 CLIP-seq
MIRT781760 hsa-miR-4254 CLIP-seq
MIRT781761 hsa-miR-4420 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 33961781
GO:0007165 Process Signal transduction IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q495B1
Protein name Ankyrin repeat and death domain-containing protein 1A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 19 121 Ankyrin repeats (3 copies) Repeat
PF13637 Ank_4 159 212 Repeat
PF12796 Ank_2 248 321 Ankyrin repeats (3 copies) Repeat
PF13857 Ank_5 312 364 Repeat
Sequence
MQEELAWETDGLLPLERQLHEAARQNNVGRMQELIGRRVNTRARNHVGRVALHWAAGAGH
EQAVRLLLEHEAAVDEEDAVGALTEARLCFGMNALLLSAWFGHLRILQILVNSGAKIHCE
S
KDGLTLLHCAAQKGHVPVLAFIMEDLEDVALDHVDKLGRTAFHRAAEHGQLDALDFLVG
SGCDHNVKDKEGNTALHLAAGRGHMAVLQRLV
DIGLDLEEQNAEGLTALHSAAGGSHPDC
VQLLLRAGSTVNALTQKNLSCLHYAALSGSEDVSRVLIHAGGCANVVDHQGASPLHLAVR
HNFPALVRLLI
NSDSDVNAVDNRQQTPLHLAAEHAWQDIADMLLIAGVDLNLRDKQGKTA
LAVA
VRSNHVSLVDMIIKADRFYRWEKDHPSDPSGKSLSFKQDHRQETQQLRSVLWRLAS
RYLQPREWKKLAYSWEFTEAHVDAIEQQWTGTRSYQEHGHRMLLIWLHGVATAGENPSKA
LFEGLVAIGRRDLAGWSTMARSQLTATSASRVQMILVPQPPE
Sequence length 522
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Glioblastoma Inhibit 30082910
★☆☆☆☆
Found in Text Mining only
Glioma Inhibit 21962230
★☆☆☆☆
Found in Text Mining only
Glioma Associate 30651372
★☆☆☆☆
Found in Text Mining only
Hypoxia Associate 30082910
★☆☆☆☆
Found in Text Mining only
Neoplasms Inhibit 30082910, 30651372
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 30651372
★☆☆☆☆
Found in Text Mining only