Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23193
Gene name Gene Name - the full gene name approved by the HGNC.
Glucosidase II alpha subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GANAB
Synonyms (NCBI Gene) Gene synonyms aliases
G2AN, GIIA, GIIalpha, GLUII, PKD3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PKD3
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q12.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glyc
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs752158933 CT>- Pathogenic Intron variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs760625230 G>A,C Pathogenic Missense variant, stop gained, intron variant, coding sequence variant, 5 prime UTR variant
rs770519542 C>A,T Pathogenic Coding sequence variant, missense variant
rs879255641 CT>- Pathogenic Frameshift variant, coding sequence variant
rs879255642 G>C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT050974 hsa-miR-17-5p CLASH 23622248
MIRT049013 hsa-miR-92a-3p CLASH 23622248
MIRT048291 hsa-miR-107 CLASH 23622248
MIRT047360 hsa-miR-34a-5p CLASH 23622248
MIRT047329 hsa-miR-181a-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674
GO:0004553 Function Hydrolase activity, hydrolyzing O-glycosyl compounds IBA 21873635
GO:0005515 Function Protein binding IPI 10929008
GO:0005788 Component Endoplasmic reticulum lumen TAS
GO:0005794 Component Golgi apparatus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
104160 4138 ENSG00000089597
Protein
UniProt ID Q14697
Protein name Neutral alpha-glucosidase AB (EC 3.2.1.207) (Alpha-glucosidase 2) (Glucosidase II subunit alpha)
Protein function Catalytic subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins (PubMed:10929008). Required for PKD1/Polycystin-1
PDB 8D43 , 8EMR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13802 Gal_mutarotas_2 253 324 Galactose mutarotase-like Domain
PF01055 Glyco_hydro_31 365 810 Glycosyl hydrolases family 31 Family
Tissue specificity TISSUE SPECIFICITY: Detected in placenta (PubMed:3881423). Isoform 1 and isoform 2 are expressed in the kidney and liver (PubMed:27259053). {ECO:0000269|PubMed:27259053, ECO:0000269|PubMed:3881423}.
Sequence
MAAVAAVAARRRRSWASLVLAFLGVCLGITLAVDRSNFKTCEESSFCKRQRSIRPGLSPY
RALLDSLQLGPDSLTVHLIHEVTKVLLVLELQGLQKNMTRFRIDELEPRRPRYRVPDVLV
ADPPIARLSVSGRDENSVELTMAEGPYKIILTARPFRLDLLEDRSLLLSVNARGLLEFEH
QRAPRVSQGSKDPAEGDGAQPEETPRDGDKPEETQGKAEKDEPGAWEETFKTHSDSKPYG
PMSVGLDFSLPGMEHVYGIPEHADNLRLKVTEGGEPYRLYNLDVFQYELYNPMALYGSVP
VLLAHNPHRDLGIFWLNAAETWVD
ISSNTAGKTLFGKMMDYLQGSGETPQTDVRWMSETG
IIDVFLLLGPSISDVFRQYASLTGTQALPPLFSLGYHQSRWNYRDEADVLEVDQGFDDHN
LPCDVIWLDIEHADGKRYFTWDPSRFPQPRTMLERLASKRRKLVAIVDPHIKVDSGYRVH
EELRNLGLYVKTRDGSDYEGWCWPGSAGYPDFTNPTMRAWWANMFSYDNYEGSAPNLFVW
NDMNEPSVFNGPEVTMLKDAQHYGGWEHRDVHNIYGLYVHMATADGLRQRSGGMERPFVL
ARAFFAGSQRFGAVWTGDNTAEWDHLKISIPMCLSLGLVGLSFCGADVGGFFKNPEPELL
VRWYQMGAYQPFFRAHAHLDTGRREPWLLPSQHNDIIRDALGQRYSLLPFWYTLLYQAHR
EGIPVMRPLWVQYPQDVTTFNIDDQYLLGDALLVHPVSDSGAHGVQVYLPGQGEVWYDIQ
SYQKHHGPQTLYLPVTLSSIPVFQRGGTIV
PRWMRVRRSSECMKDDPITLFVALSPQGTA
QGELFLDDGHTFNYQTRQEFLLRRFSFSGNTLVSSSADPEGHFETPIWIERVVIIGAGKP
AAVVLQTKGSPESRLSFQHDPETSVLVLRKPGINVASDWSIHLR
Sequence length 944
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  N-Glycan biosynthesis
Metabolic pathways
Protein processing in endoplasmic reticulum
  N-glycan trimming in the ER and Calnexin/Calreticulin cycle
Calnexin/calreticulin cycle
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Polycystic kidney disease Polycystic Kidney Diseases, Polycystic Kidney, Autosomal Dominant, Polycystic Kidney, Type 1 Autosomal Dominant Disease, Polycystic kidney disease, type 2, Autosomal dominant polycystic kidney disease rs119103233, rs886041027, rs886041028, rs137852944, rs28937907, rs137852947, rs137852948, rs137852949, rs137852950, rs267607048, rs2147483647, rs199476094, rs1567154953, rs199476095, rs199476096
View all (740 more)
27259053
Polycystic kidney disease with or without polycystic liver disease POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE rs199476100, rs879255641, rs879255643, rs752158933, rs1553849919, rs1553849920, rs1351138670, rs1553850185, rs941713150, rs1616940, rs1210158408, rs1565088616, rs1567187420, rs1567195868, rs1567190244 27259053, 28862642
Polycystic kidney disease with polycystic liver disease POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE rs886037848, rs879255643, rs752158933, rs1590789370
Polycystic kidney disease without polycystic liver disease POLYCYSTIC KIDNEY DISEASE 3 WITHOUT POLYCYSTIC LIVER DISEASE rs879255642
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 35766008
Cardiomyopathy Restrictive Associate 31037987
Delayed Emergence from Anesthesia Associate 31037987
Familial paroxysmal dystonia Associate 27259053
Focal Infection Associate 28522688
Kidney Diseases Cystic Associate 36573973
Neoplasms Associate 35879690
Non Muscle Invasive Bladder Neoplasms Stimulate 35879690
Polycystic Kidney Autosomal Dominant Associate 27259053, 28522688, 30333007, 33097077, 36833371, 38537868
Polycystic Kidney Diseases Associate 33097077