GANC
protein-codingglucosidase alpha, neutral C, the group of Glycoside hydrolase family 31
Gene summary
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]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~80.5 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to GANC variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_198141.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 117 | 5 | 2 | 124 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 121 | 5 | 2 | 128 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_937784.2 | 24 | MANE Select | |
| Ensembl | ENSP00000326227.8 | 24 | MANE Select | |
| RefSeq | NP_001288338.1 | 11 | Standard | |
| RefSeq | NP_001288339.1 | 5 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Starch and sucrose metabolism - Homo sapiens (human)
- Galactose metabolism - Homo sapiens (human)
Biological Process
- maltose metabolic process
Molecular Function
- alpha-1,4-glucosidase activity
- carbohydrate binding
- maltose alpha-glucosidase activity
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000318010
- Coding exons
- 24
- Length
- 80434
- Individuals with no LoFs
- 125282
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 465
- Defined
- 125747
- p
- 0.00185
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.618 | 521 | 483 | 1.08 | 0.0000237 | 6000 |
| Missense (PolyPhen) | 208 | 185.62 | 1.1206 | 2190 | ||
| Synonymous | -0.832 | 184 | 170 | 1.08 | 0.00000826 | 1689 |
| Loss of Function | 0.354 | 54 | 56.9 | 0.949 | 0.00000296 | 646 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0014 | 0.0014 | notable |
| Latino/Admixed American | 0.0024 | 0.0023 | notable |
| Ashkenazi Jewish | 0.0049 | 0.0049 | notable |
| East Asian | 0.0029 | 0.0029 | notable |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.0013 | 0.0012 | notable |
| South Asian | 0.0033 | 0.0033 | notable |
| Other | 0.0029 | 0.0029 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Has alpha-glucosidase activity. {ECO:0000269|PubMed:12370436}.;
Recessive Scores
- pRec
- 0.736
Intolerance Scores
- LoFtool
- 0.187
- RVIS EVS
- 0.39
- RVIS percentile EVS
- 75.71
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.882
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | High | High | High |
| Primary Immunodeficiency | High | High | High |
| Cancer | High | High | High |