Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
84079 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Ankyrin repeat domain 27 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
ANKRD27 |
SynonymsGene synonyms aliases
|
PP12899, VARP |
ChromosomeChromosome number
|
19 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
19q13.11 |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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 |
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Sequence length |
1050 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Multiple myeloma |
Multiple Myeloma |
rs11540652, rs78311289, rs121913482, rs397507340, rs121913343, rs121913240, rs121913529, rs730882018, rs1057517992, rs121913527, rs756183569, rs746646631, rs1574706907, rs372078034, rs745380962, rs751524927, rs1575079076, rs1575446356, rs1478603808, rs1578264146, rs1578673280, rs1579484570, rs1579491104, rs1171390403, rs1582867955, rs764264135, rs951047896, rs890521687, rs1581495906, rs1587941402, rs1003155450, rs1588299621, rs1591100766, rs1591693095, rs1029296641, rs1593107841, rs1208575764, rs1593835248, rs1594406727, rs1594966387, rs1595889508, rs1159294530, rs1597073318, rs1135402871, rs1599413207, rs1418268495, rs1212577459, rs1600394490, rs1455074519, rs1603113792, rs1603415028, rs1602247047, rs1603452612 |
29594489 |
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