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Gene Gene information from NCBI Gene database.
Entrez ID 84210
Gene name Ankyrin repeat domain 20 family member A1
Gene symbol ANKRD20A1
Synonyms (NCBI Gene)
ANKRD20A
Chromosome 9
Chromosome location 9q21.11
miRNA miRNA information provided by mirtarbase database.
29 Show/Hide all (29)
miRTarBase ID miRNA Experiments Reference
MIRT783011 hsa-miR-1283 CLIP-seq
MIRT783012 hsa-miR-219-1-3p CLIP-seq
MIRT783013 hsa-miR-30a CLIP-seq
MIRT783014 hsa-miR-30b CLIP-seq
MIRT783015 hsa-miR-30c CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane IDA
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.
Q5TYW2
Protein name Ankyrin repeat domain-containing protein 20A1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 37 → 130 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 137 → 229 Ankyrin repeats (3 copies) Repeat
PF14915 CCDC144C 514 → 806 CCDC144C protein coiled-coil region Coiled-coil
Sequence
MKLFGFGSRRGQTAQGSIDHVYTGSGYRIRDSELQKIHRAAVKGDAAEVERCLARRSGDL
DALDKQHRTALHLACTSGHVQVVTLLVNRKCQIDVCDKENRTPLIQAVHCQEEACAVILL
EHGANPNLKD
IYGNTALHYAVYSESTSLAEKLLSHGAHIEALDKDNNTPLLFAIICKKEK
MVEFLLKKKASSHAVDRLRRSALMLAVYYDSPGIVNILLKQNIDVFAQD
MCGRDAEDYAI
SHHLTKIQQQILEHKKKILKKEKSDVGSSDESAVSIFHELRVDSLPASDDKDLNVATKQC
VPEKVSEPLPGSSHEKGNRIVNGQGEGPPAKHPSLKPSTEVEDPAVKGAVQRKNVQTLRA
EQALPVASEEEQERHERSEKKQPQVKEGNNTNKSEKIQLSENICDSTSSAAAGRLTQQRK
IGKTYPQQFPKKLKEEHDRCTLKQENEEKTNVNMLYKKNREELERKEKQYKKEVEAKQLE
PTVQSLEMKSKTARNTPNWDFHNHEEMKGLMDENCILKADIAILRQEICTMKNDNLEKEN
KYLKDIKIVKETNAALEKYIKLNEEMITETAFRYQQELNDLKAENTRLNAELLKEKESKK
RLEADIESYQSRLAAAISKHSESVKTERNLKLALERTRDVSVQVEMSSAISKVKAENEFL
TEQLSETQIKFNALKDKFRKTRDSLRKKSLALETVQNDLSQTQQQTQEMKEMYQNAEAKV
NNSTGKWNCVEERICHLQRENAWLVQQLDDVHQKEDHKEIVTNIQRGFIESGKKDLVLEE
KSKKLMNECDHLKESLFQYEREKTEG
VVSIKEDKYFQTSRKTI
Sequence length 823
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
OCULAR SARCOIDOSIS — GWAS catalog 32141793
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations