Gene Gene information from NCBI Gene database.
Entrez ID 84079
Gene name Ankyrin repeat domain 27
Gene symbol ANKRD27
Synonyms (NCBI Gene)
PP12899VARP
Chromosome 19
Chromosome location 19q13.11
miRNA miRNA information provided by mirtarbase database.
306
miRTarBase ID miRNA Experiments Reference
MIRT002637 hsa-miR-124-3p Microarray 15685193
MIRT002637 hsa-miR-124-3p Microarray 18668037
MIRT002637 hsa-miR-124-3p Microarray 15685193
MIRT050984 hsa-miR-17-5p CLASH 23622248
MIRT042819 hsa-miR-324-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46
GO ID Ontology Definition Evidence Reference
GO:0000149 Function SNARE binding IBA
GO:0000149 Function SNARE binding IEA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 16525121
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618957 25310 ENSG00000105186
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96NW4
Protein name Ankyrin repeat domain-containing protein 27 (VPS9 domain-containing protein)
Protein function May be a guanine exchange factor (GEF) for Rab21, Rab32 and Rab38 and regulate endosome dynamics (PubMed:16525121, PubMed:18477474). May regulate the participation of VAMP7 in membrane fusion events; in vitro inhibits VAMP7-mediated SNARE comple
PDB 4B93 , 4CYM , 4CZ2 , 6TL0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02204 VPS9 264 367 Vacuolar sorting protein 9 (VPS9) domain Family
PF12796 Ank_2 401 526 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 500 595 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 673 807 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 781 873 Ankyrin repeats (3 copies) Repeat
Sequence
MALYDEDLLKNPFYLALQKCRPDLCSKVAQIHGIVLVPCKGSLSSSIQSTCQFESYILIP
VEEHFQTLNGKDVFIQGNRIKLGAGFACLLSVPILFEETFYNEKEESFSILCIAHPLEKR
ESSEEPLAPSDPFSLKTIEDVREFLGRHSERFDRNIASFHRTFRECERKSLRHHIDSANA
LYTKCLQQLLRDSHLKMLAKQEAQMNLMKQAVEIYVHHEIYNLIFKYVGTMEASEDAAFN
KITRSLQDLQQKDIGVKPEFSFNIPRAKRELAQLNKCTSPQQKLVCLRKVVQLITQSPSQ
RVNLETMCADDLLSVLLYLLVKTEIPNWMANLSYIKNFRFSSLAKDELGYCLTSFEAAIE
YIRQGSL
SAKPPESEGFGDRLFLKQRMSLLSQMTSSPTDCLFKHIASGNQKEVERLLSQE
DHDKDTVQKMCHPLCFCDDCEKLVSGRLNDPSVVTPFSRDDRGHTPLHVAAVCGQASLID
LLVSKGAMVNATDYHGATP
LHLACQKGYQSVTLLLLHYKASAEVQDNNGNTPLHLACTYG
HEDCVKALVYYDVESCRLDIGNEKGDTPLHIAARWGYQGVIETLLQNGASTEIQN
RLKET
PLKCALNSKILSVMEAYHLSFERRQKSSEAPVQSPQRSVDSISQESSTSSFSSMSASSRQ
EETKKDYREVEKLLRAVADGDLEMVRYLLEWTEEDLEDAEDTVSAADPEFCHPLCQCPKC
APAQKRLAKVPASGLGVNVTSQDGSSPLHVAALHGRADLIPLLLKHGANAGARNADQAVP
LHLACQQGHFQVVKCLLDSNAKPNKKDLSGNTPLIYACSGGHHELVALLLQHGASINASN
NKGNTALHEAVIEKHVFVVELLLLHGASVQVLN
KRQRTAVDCAEQNSKIMELLQVVPSCV
ASLDDVAETDRKEYVTVKIRKKWNSKLYDLPDEPFTRQFYFVHSAGQFKGKTSREIMARD
RSVPNLTEGSLHEPGRQSVTLRQNNLPAQSGSHAAEKGNSDWPERPGLTQTGPGHRRMLR
RHTVEDAVVSQGPEAAGPLSTPQEVSASRS
Sequence length 1050
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    RAB GEFs exchange GTP for GDP on RABs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
EOSINOPHILIC ESOPHAGITIS Disgenet, GWAS catalog
Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
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
Atrial Fibrillation Atrial fibrillation Pubtator 24148610 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 34965262 Associate
★☆☆☆☆
Found in Text Mining only
Eosinophilic esophagitis Eosinophilia GWASCAT_DG 25407941
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Eosinophilic Esophagitis Eosinophilia Pubtator 25407941 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder Mental Depression GWASCAT_DG 23377640
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder Mental Depression GWASDB_DG 23377640
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Multiple Myeloma Multiple myeloma GWASCAT_DG 29594489
★☆☆☆☆
Found in Text Mining only