Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84079
Gene name Gene Name - the full gene name approved by the HGNC.
Ankyrin repeat domain 27
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ANKRD27
Synonyms (NCBI Gene) Gene synonyms aliases
PP12899, VARP
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.11
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000149 Function SNARE binding IBA 21873635
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA 21873635
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 16525121
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 16525121, 19745841, 22705394, 23104059
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
618957 25310 ENSG00000105186
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Multiple myeloma Multiple Myeloma rs11540652, rs78311289, rs121913482, rs397507340, rs121913343, rs121913240, rs121913529, rs730882018, rs1057517992, rs121913527, rs756183569, rs746646631, rs1574706907, rs372078034, rs745380962
View all (38 more)
29594489
Unknown
Disease term Disease name Evidence References Source
Mental depression Major Depressive Disorder 23377640 ClinVar
Mental Depression Mental Depression GWAS
Eosinophilia Eosinophilia GWAS
Schizophrenia Schizophrenia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Atrial Fibrillation Associate 24148610
Colorectal Neoplasms Associate 34965262
COVID 19 Associate 35927536
Eosinophilic Esophagitis Associate 25407941