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Aliases for GANC Gene

Aliases for GANC Gene

  • Glucosidase Alpha, Neutral C 2 3 5
  • Glucosidase, Alpha; Neutral C 2
  • Neutral Alpha-Glucosidase C 3
  • EC 3.2.1.20 4

External Ids for GANC Gene

Previous GeneCards Identifiers for GANC Gene

  • GC15U990022
  • GC15P040282
  • GC15P040354
  • GC15P042566
  • GC15P019414

Summaries for GANC Gene

Entrez Gene Summary for GANC Gene

  • Glycosyl hydrolase enzymes hydrolyse the glycosidic bond between two or more carbohydrates, or between a carbohydrate and a non-carbohydrate moiety. This gene encodes a member of glycosyl hydrolases family 31. This enzyme hydrolyses terminal, non-reducing 1,4-linked alpha-D-glucose residues and releases alpha-D-glucose. This is a key enzyme in glycogen metabolism and its gene localizes to a chromosomal region (15q15) that is associated with susceptibility to diabetes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2014]

GeneCards Summary for GANC Gene

GANC (Glucosidase Alpha, Neutral C) is a Protein Coding gene. Among its related pathways are Galactose metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and alpha-1,4-glucosidase activity. An important paralog of this gene is GANAB.

UniProtKB/Swiss-Prot for GANC Gene

  • Has alpha-glucosidase activity.

Tocris Summary for GANC Gene

  • Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose.

Gene Wiki entry for GANC Gene

Additional gene information for GANC Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GANC Gene

Genomics for GANC Gene

GeneHancer (GH) Regulatory Elements for GANC Gene

Promoters and enhancers for GANC Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J042270 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 672.1 +0.5 519 5.8 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 GANC TMEM87A LRRC57 CDAN1 MGA LOC105370795 RPAP1 VPS39 RPS3AP47 ENSG00000260814
GH15J042353 Promoter 0.5 EPDnew 650.2 +79.9 79874 0.1 GANC CAPN3 ENSG00000258461
GH15J041282 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 32.7 -988.4 -988436 3.7 HDGF PKNOX1 CLOCK SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B RTF1 OIP5-AS1 NDUFAF1 INO80 MGA GANC BAHD1 ENSG00000259211 RPAP1 DNAJC17
GH15J042493 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 20.9 +222.1 222072 3.7 HDGF PKNOX1 ARNT ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 SLC30A9 SNAP23 LRRC57 CDAN1 GANC ZSCAN29 HAUS2 MGA LCMT2 LOC105370795 VPS39
GH15J041401 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 23.7 -870.7 -870732 1.8 ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC NDUFAF1 DNAJC17 INO80 ENSG00000259211 LOC105370795 GANC MGA CHST14 RAD51-AS1 BAHD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GANC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GANC gene promoter:
  • GATA-1
  • POU2F1a
  • POU2F1
  • Pax-6
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • CUTL1
  • aMEF-2
  • MEF-2A

Genomic Locations for GANC Gene

Genomic Locations for GANC Gene
chr15:42,273,233-42,356,935
(GRCh38/hg38)
Size:
83,703 bases
Orientation:
Plus strand
chr15:42,565,431-42,645,864
(GRCh37/hg19)
Size:
80,434 bases
Orientation:
Plus strand

Genomic View for GANC Gene

Genes around GANC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GANC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GANC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GANC Gene

Proteins for GANC Gene

  • Protein details for GANC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TET4-GANC_HUMAN
    Recommended name:
    Neutral alpha-glucosidase C
    Protein Accession:
    Q8TET4
    Secondary Accessions:
    • Q52LQ4
    • Q8IWZ0
    • Q8IZM4
    • Q8IZM5

    Protein attributes for GANC Gene

    Size:
    914 amino acids
    Molecular mass:
    104334 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB84863.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for GANC Gene

Post-translational modifications for GANC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GANC Gene

Domains & Families for GANC Gene

Gene Families for GANC Gene

Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for GANC Gene

Graphical View of Domain Structure for InterPro Entry

Q8TET4

UniProtKB/Swiss-Prot:

GANC_HUMAN :
  • Belongs to the glycosyl hydrolase 31 family.
Family:
  • Belongs to the glycosyl hydrolase 31 family.
genes like me logo Genes that share domains with GANC: view

Function for GANC Gene

Molecular function for GANC Gene

UniProtKB/Swiss-Prot Function:
Has alpha-glucosidase activity.
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of alpha-D-glucose.
GENATLAS Biochemistry:
glucosidase,alpha-,neutral C

Enzyme Numbers (IUBMB) for GANC Gene

Phenotypes From GWAS Catalog for GANC Gene

Gene Ontology (GO) - Molecular Function for GANC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA --
GO:0004558 alpha-1,4-glucosidase activity NAS 12370436
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
genes like me logo Genes that share ontologies with GANC: view
genes like me logo Genes that share phenotypes with GANC: view

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GANC Gene

Localization for GANC Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GANC gene
Compartment Confidence
nucleus 3
plasma membrane 2
cytoskeleton 2
cytosol 2
mitochondrion 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for GANC Gene

Pathways & Interactions for GANC Gene

genes like me logo Genes that share pathways with GANC: view

Pathways by source for GANC Gene

Gene Ontology (GO) - Biological Process for GANC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000023 maltose metabolic process IEA --
GO:0005975 carbohydrate metabolic process IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with GANC: view

No data available for SIGNOR curated interactions for GANC Gene

Drugs & Compounds for GANC Gene

(10) Drugs for GANC Gene - From: DrugBank, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Miglitol Approved Pharma Target, antagonist 12
D-glucose Approved, Vet_approved Pharma 0
Furan Approved, Experimental, Investigational Pharma 0
Galactose Approved, Investigational Pharma 0
Water Approved Pharma 0

(4) Additional Compounds for GANC Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Alpha-D-Glucose
  • alpha-D-GLC
  • alpha-Dextrose
  • a-D-GLC
  • α-D-GLC
  • a-D-Glucose
492-62-6
D-Fructose
  • D-lyxo-2-Hexulose
  • D-lyxo-Hex-2-ulose
  • D-Tag
  • lyxo-2-Hexulose
  • lyxo-Hexulose
53188-23-1
melibiose
  • 6-O-(alpha-D-Galactopyranosyl)-D-mannopyranose
  • 6-O-alpha-D-Mannopyranosyl-alpha-D-galactopyranose
  • 6-O-(a-D-Galactopyranosyl)-D-mannopyranose
  • 6-O-(α-D-galactopyranosyl)-D-mannopyranose
  • 6-O-a-D-Mannopyranosyl-a-D-galactopyranose
585-99-9
Miglustat hydrochloride
210110-90-0

(5) Tocris Compounds for GANC Gene

Compound Action Cas Number
1-Deoxymannojirimycin hydrochloride alpha-Mannosidase I inhibitor 73465-43-7
1-Deoxynojirimycin Glucosidase I and II inhibitor 19130-96-2
Acarbose Glucosidase alpha inhibitor (intestinal) 56180-94-0
Castanospermine Glucosidases alpha and beta inhibitor 79831-76-8
Miglustat hydrochloride alpha-glucosidase I and II inhibitor. Also inhibits ceramide-specific glycosyltransferases 210110-90-0
genes like me logo Genes that share compounds with GANC: view

Transcripts for GANC Gene

mRNA/cDNA for GANC Gene

Unigene Clusters for GANC Gene

Glucosidase, alpha; neutral C:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GANC Gene

No ASD Table

Relevant External Links for GANC Gene

GeneLoc Exon Structure for
GANC
ECgene alternative splicing isoforms for
GANC

Expression for GANC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GANC Gene

Protein differential expression in normal tissues from HIPED for GANC Gene

This gene is overexpressed in Cerebrospinal fluid (24.2), Bone marrow mesenchymal stem cell (12.2), Lymph node (10.1), and Breast (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GANC Gene



NURSA nuclear receptor signaling pathways regulating expression of GANC Gene:

GANC

SOURCE GeneReport for Unigene cluster for GANC Gene:

Hs.730806

Evidence on tissue expression from TISSUES for GANC Gene

  • Intestine(4.5)
  • Blood(4.2)
  • Spleen(4.2)
genes like me logo Genes that share expression patterns with GANC: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GANC Gene

Orthologs for GANC Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GANC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GANC 34 33
  • 99.34 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GANC 34 33
  • 89.05 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GANC 34 33
  • 88.17 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ganc 16 34 33
  • 85.53 (n)
rat
(Rattus norvegicus)
Mammalia Ganc 33
  • 85.12 (n)
oppossum
(Monodelphis domestica)
Mammalia GANC 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GANC 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves GANC 34 33
  • 70.65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GANC 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ganc 33
  • 62.84 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100536353 33
  • 56.5 (n)
GANC 34
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14476 34
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea aagr-4 34
  • 41 (a)
ManyToMany
aagr-3 34
  • 40 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ROT2 34
  • 32 (a)
OneToMany
soybean
(Glycine max)
eudicotyledons Gma.6669 33
wheat
(Triticum aestivum)
Liliopsida Ta.1604 33
corn
(Zea mays)
Liliopsida Zm.13759 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
OneToMany
Species where no ortholog for GANC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for GANC Gene

ENSEMBL:
Gene Tree for GANC (if available)
TreeFam:
Gene Tree for GANC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GANC: view image

Paralogs for GANC Gene

Paralogs for GANC Gene

(1) SIMAP similar genes for GANC Gene using alignment to 9 proteins:

  • GANC_HUMAN
  • E7EWB6_HUMAN
  • H3BMM3_HUMAN
  • H3BMW3_HUMAN
  • H3BN99_HUMAN
  • H3BPX5_HUMAN
  • H3BRQ6_HUMAN
  • H3BUE8_HUMAN
  • Q2M2A3_HUMAN
genes like me logo Genes that share paralogs with GANC: view

Variants for GANC Gene

Sequence variations from dbSNP and Humsavar for GANC Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000015979 -- 42,334,103(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000060913 -- 42,329,251(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000140542 -- 42,352,596(+) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000149584 -- 42,332,570(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000191228 -- 42,286,939(+) T/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GANC Gene

Variant ID Type Subtype PubMed ID
esv2660428 CNV deletion 23128226
esv2661604 CNV deletion 23128226
esv2671493 CNV deletion 23128226
esv3581651 CNV loss 25503493
esv3636263 CNV loss 21293372
esv3636264 CNV loss 21293372
esv3636265 CNV loss 21293372
nsv827310 CNV loss 20364138
nsv832986 CNV loss 17160897
nsv832987 CNV gain 17160897

Variation tolerance for GANC Gene

Residual Variation Intolerance Score: 90.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.75; 96.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GANC Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GANC

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GANC Gene

Disorders for GANC Gene

Additional Disease Information for GANC

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for GANC Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GANC Gene

Publications for GANC Gene

  1. Computer assisted cloning of human neutral alpha-glucosidase C (GANC): a new paralog in the glycosyl hydrolase gene family 31. (PMID: 12370436) Hirschhorn R … Kasper JS (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 4 22 58
  2. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Newly identified exons encoding novel variants of p94/calpain 3 are expressed ubiquitously and overlap the alpha-glucosidase C gene. (PMID: 14675785) Kawabata Y … Sorimachi H (FEBS letters 2003) 3 22 58
  5. Assignment of the gene for human neutral alpha-glucosidase C to chromosome 15. (PMID: 6995030) Martiniuk F … Smith M (Cytogenetics and cell genetics 1980) 2 3 58

Products for GANC Gene

Sources for GANC Gene

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