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Aliases for ATG2A Gene
Aliases for ATG2A Gene
External Ids for ATG2A Gene
- HGNC: 29028
- NCBI Entrez Gene: 23130
- Ensembl: ENSG00000110046
- OMIM®: 616225
- UniProtKB/Swiss-Prot: Q2TAZ0
Previous GeneCards Identifiers for ATG2A Gene
- GC11M064430
- GC11M064431
- GC11M064434
- GC11M064662
- GC11M060989
- GC11M064897
- GC11M064908
- GC11M064973
- GC11M064978
- GC11M064985
- GC11M065004
- GC11M064916
- GC11M064922
- GC11M064925
- GC11M064931
- GC11M064935
- GC11M064948
- GC11M064957
- GC11M064963
- GC11M065019
Summaries for ATG2A Gene
GeneCards Summary for ATG2A Gene
ATG2A (Autophagy Related 2A) is a Protein Coding gene. Diseases associated with ATG2A include Auditory Agnosia. Among its related pathways are Pathways of neurodegeneration - multiple diseases and Autophagy Pathway. An important paralog of this gene is ATG2B.
UniProtKB/Swiss-Prot Summary for ATG2A Gene
-
Involved in autophagosome assembly, regulating the size of nascent autophagosomes (PubMed:28561066). Also regulates lipid droplets morphology and distribution within the cell (PubMed:22219374, PubMed:28561066). Tethers the edge of the isolation membrane (IM) to the endoplasmic reticulum (ER) and mediates direct lipid transfer from ER to IM for IM expansion (By similarity).
Additional gene information for ATG2A Gene
- HGNC (29028)
- NCBI Entrez Gene (23130)
- Ensembl (ENSG00000110046)
- OMIM® (616225)
- UniProtKB/Swiss-Prot (Q2TAZ0)
- Open Targets Platform(ENSG00000110046)
- Search for ATG2A at DataMed
- Search for ATG2A at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATG2A Gene
Genomics for ATG2A Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ATG2A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ATG2A on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATG2A
- Top Transcription factor binding sites by QIAGEN in the ATG2A gene promoter:
-
- C/EBPalpha
- Egr-3
- FOXC1
- Ik-3
- Nkx2-5
- p53
- Sp1
- TBP
- YY1
Genomic Locations for ATG2A Gene
Latest Assembly
- chr11:64,894,546-64,917,241
- (GRCh38/hg38)
- Size:
- 22,696 bases
- Orientation:
- Minus strand
Previous Assembly
- chr11:64,662,018-64,684,681
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 22,664 bases
- Orientation:
- Minus strand
- chr11:64,662,007-64,684,722
- (GRCh37/hg19 by Ensembl)
- Size:
- 22,716 bases
- Orientation:
- Minus strand
Genomic View for ATG2A Gene
Genes around ATG2A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q13.1 by HGNC
- 11q13.1 by Entrez Gene
- 11q13.1 by Ensembl
ATG2A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ATG2A Gene
Proteins for ATG2A Gene
-
Protein details for ATG2A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q2TAZ0-ATG2A_HUMAN
- Recommended name:
- Autophagy-related protein 2 homolog A
- Protein Accession:
- Q2TAZ0
- O43154
- Q14DM2
- Q6ZTV2
- Q7Z6K8
- Q8IVY5
- Q8TAI8
- Q96HH7
Protein attributes for ATG2A Gene
- Size:
- 1938 amino acids
- Molecular mass:
- 212860 Da
- Quaternary structure:
-
- Interacts with WDR45.
- SequenceCaution:
-
- Sequence=BAA23700.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
Protein Expression for ATG2A Gene
Post-translational modifications for ATG2A Gene
Other Protein References for ATG2A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for ATG2A
- Novus Biologicals Antibodies for ATG2A
-
Abcam antibodies for ATG2A
- Invitrogen Antibodies for ATG2A (AFLGC-ATG2A)
- antibodies-online: Show 33 available ATG2A Antibodies ranked by validation data
-
Boster Bio Antibodies for ATG2A
-
Custom Antibody ServicesProSci Antibodies for ATG2A
-
Santa Cruz Biotechnology (SCBT) Antibodies for ATG2A
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ATG2A
- Origene Custom Protein Services for ATG2A
- Novus Biologicals proteins for ATG2A
Assay products for research
No data available for DME Specific Peptides for ATG2A Gene
Domains & Families for ATG2A Gene
Gene Families for ATG2A Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Transporters
Protein Domains for ATG2A Gene
- InterPro:
- Blocks:
-
- Oxygen oxidoreductase covalent FAD-binding site
- ProtoNet:
Suggested Antigen Peptide Sequences for ATG2A Gene
- GenScript: Design optimal peptide antigens:
-
- Autophagy-related protein 2 homolog A (ATG2A_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q2TAZ0- Family:
-
- Belongs to the ATG2 family.
Function for ATG2A Gene
Molecular function for ATG2A Gene
- UniProtKB/Swiss-Prot Function:
- Involved in autophagosome assembly, regulating the size of nascent autophagosomes (PubMed:28561066). Also regulates lipid droplets morphology and distribution within the cell (PubMed:22219374, PubMed:28561066). Tethers the edge of the isolation membrane (IM) to the endoplasmic reticulum (ER) and mediates direct lipid transfer from ER to IM for IM expansion (By similarity).
Phenotypes From GWAS Catalog for ATG2A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 20562859 |
| GO:0032266 | phosphatidylinositol-3-phosphate binding | IBA | 21873635 |
Phenotypes for ATG2A Gene
- GenomeRNAi human phenotypes for ATG2A:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ATG2A - Starting at $85 >
- * ATG2A CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ATG2A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATG2A
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATG2A
miRNA for ATG2A Gene
- miRTarBase miRNAs that target ATG2A
-
- hsa-miR-3175 (MIRT131222)
- hsa-miR-4252 (MIRT131227)
- hsa-miR-4793-3p (MIRT131237)
- hsa-miR-1273g-3p (MIRT131239)
- hsa-miR-6849-3p (MIRT131255)
- hsa-miR-7703 (MIRT131264)
- hsa-miR-106b-5p (MIRT441166)
- hsa-miR-20a-5p (MIRT441167)
- hsa-miR-3692-3p (MIRT485784)
- hsa-miR-5095 (MIRT485785)
- hsa-miR-7151-3p (MIRT485786)
- hsa-miR-4653-3p (MIRT485787)
- hsa-miR-6798-5p (MIRT485788)
- hsa-miR-4717-3p (MIRT485789)
- hsa-miR-6805-5p (MIRT485790)
- hsa-miR-6514-5p (MIRT485791)
- hsa-miR-4802-3p (MIRT485792)
- hsa-miR-4697-5p (MIRT512232)
- hsa-miR-4488 (MIRT512233)
- hsa-miR-1237-5p (MIRT512234)
- hsa-miR-6816-5p (MIRT512235)
- hsa-miR-3196 (MIRT512236)
- hsa-miR-3180-3p (MIRT512237)
- hsa-miR-3180 (MIRT512238)
- hsa-miR-198 (MIRT568384)
- hsa-miR-6808-3p (MIRT568385)
- hsa-miR-7150 (MIRT568386)
- hsa-miR-7973 (MIRT568387)
- hsa-miR-885-3p (MIRT568388)
- hsa-miR-139-3p (MIRT568389)
- hsa-miR-3688-3p (MIRT568390)
- hsa-miR-215-5p (MIRT568391)
- hsa-miR-192-5p (MIRT568392)
- hsa-miR-4758-3p (MIRT572228)
- hsa-miR-4286 (MIRT572229)
- hsa-miR-488-5p (MIRT572230)
- hsa-miR-4323 (MIRT572231)
- hsa-miR-550b-2-5p (MIRT624629)
- hsa-miR-6720-5p (MIRT624630)
- hsa-miR-6512-3p (MIRT624631)
- hsa-miR-4276 (MIRT624632)
- hsa-miR-1227-3p (MIRT624633)
- hsa-miR-4504 (MIRT624634)
- hsa-miR-766-3p (MIRT624635)
- hsa-miR-5190 (MIRT624636)
- hsa-miR-508-5p (MIRT624637)
- hsa-miR-519d-3p (MIRT728283)
- hsa-miR-20b-5p (MIRT728284)
- hsa-miR-93-5p (MIRT728285)
- hsa-miR-17-5p (MIRT728286)
- hsa-miR-1193 (MIRT735919)
- hsa-miR-1233-3p (MIRT736206)
- hsa-miR-1276 (MIRT736949)
- hsa-miR-3064-5p (MIRT739691)
- hsa-miR-370-5p (MIRT742548)
- hsa-miR-376a-3p (MIRT742638)
- hsa-miR-376b-3p (MIRT742645)
- hsa-miR-4687-3p (MIRT746988)
- hsa-miR-4760-3p (MIRT748492)
- hsa-miR-6501-3p (MIRT752891)
- hsa-miR-6504-5p (MIRT752928)
- hsa-miR-6801-5p (MIRT756368)
- hsa-miR-7974 (MIRT759975)
- hsa-miR-892b (MIRT760449)
- hsa-miR-146b-3p (MIRT790118)
- hsa-miR-1914-5p (MIRT790145)
- hsa-miR-6779-3p (MIRT790955)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATG2A
- Browse OriGene Inhibitory RNA Products For ATG2A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATG2A
Clone products for research
- Applied Biological Materials (abm): Clones for ATG2A - Starting at $45 >
- * ATG2A as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Addgene plasmids for ATG2A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATG2A
Cell Lines for research
-
Horizon Cell Lines for ATG2A
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATG2A Gene
Localization for ATG2A Gene
Subcellular locations from UniProtKB/Swiss-Prot for ATG2A Gene
- Preautophagosomal structure membrane. Peripheral membrane protein. Lipid droplet. Endoplasmic reticulum membrane. Peripheral membrane protein.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| endosome | 2 |
| lysosome | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Vesicles (3)
- Nucleoplasm (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000407 | phagophore assembly site | IBA | 21873635 |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
| GO:0005811 | lipid droplet | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for ATG2A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Pathways of neurodegeneration - multiple diseases | ||
| 2 | Autophagy - animal | ||
| 3 | Macroautophagy | ||
| 4 | Spinocerebellar ataxia | ||
| 5 | Autophagy Pathway | ||
Pathways by source for ATG2A Gene
1 Sino Biological pathway for ATG2A Gene
7 KEGG pathways for ATG2A Gene
Interacting Proteins for ATG2A Gene
Selected Interacting proteins:
Q2TAZ0-ATG2A_HUMAN
ENSP00000366475
for ATG2A Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for ATG2A
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000045 | autophagosome assembly | IBA,IMP | 28561066 |
| GO:0000422 | autophagy of mitochondrion | IBA | 21873635 |
| GO:0006914 | autophagy | IEA | -- |
| GO:0034727 | piecemeal microautophagy of the nucleus | IBA | 21873635 |
| GO:0044805 | late nucleophagy | IBA | 21873635 |
No data available for SIGNOR curated interactions for ATG2A Gene
Transcripts for ATG2A Gene
mRNA/cDNA for ATG2A Gene
- 3 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000377264 6318 nts (view in UCSC)
- ENST00000418259 5654 nts (view in UCSC)
- ENST00000421419 1481 nts (view in UCSC)
- ENST00000461701 2031 nts (view in UCSC)
- ENST00000461955 575 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ATG2A - Starting at $85 >
- * ATG2A CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ATG2A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATG2A
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATG2A
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATG2A
- Browse OriGene Inhibitory RNA Products For ATG2A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATG2A
Clone products for research
- Applied Biological Materials (abm): Clones for ATG2A - Starting at $45 >
- * ATG2A as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Addgene plasmids for ATG2A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATG2A
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15a | · | 15b | · | 15c | ^ | 16 | ^ | 17 | ^ | 18 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: |
| ExUns: | 19 | ^ | 20 | ^ | 21a | · | 21b | ^ | 22a | · | 22b | ^ | 23a | · | 23b | ^ | 24a | · | 24b | · | 24c | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||||||||
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| SP9: | |||||||||||||||||||||||||||||||||||||||||||
| SP10: |
Relevant External Links for ATG2A Gene
- GeneLoc Exon Structure for
- ATG2A
Expression for ATG2A Gene
mRNA differential expression in normal tissues according to GTEx for ATG2A Gene
This gene is overexpressed in Whole Blood (x5.3).
This gene is overexpressed in Liver, secretome (23.2), CD4 Tcells (11.9), Breast (6.7), Brain (6.7), and Platelet (6.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATG2A Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATG2A
SOURCE GeneReport for Unigene cluster for ATG2A Gene:
Hs.370671Evidence on tissue expression from TISSUES for ATG2A Gene
- Nervous system(4.4)
- Skin(4.3)
- Liver(4.3)
Primer products for research
-
OriGene qPCR primer pairs for ATG2A
Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATG2A Gene
Orthologs for ATG2A Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ATG2A 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ATG2A 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ATG2A 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Atg2a 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Atg2a 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ATG2A 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ATG2A 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atg2a 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ATG2A 31 |
|
OneToOne | |
| LOC101883461 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Atg2 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | atg-2 30 31 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ATG2 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1201 31 |
|
OneToMany |
- Species where no ortholog for ATG2A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- 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)
- Oppossum (Monodelphis domestica)
- 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 Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for ATG2A Gene
- ENSEMBL:
- Gene Tree for ATG2A (if available)
- TreeFam:
- Gene Tree for ATG2A (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ATG2A: view image
Paralogs for ATG2A Gene
Variants for ATG2A Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATG2A Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 929770 | Uncertain Significance: Premature ovarian failure | 64,909,834(-) |
G/T NM_015104.3(ATG2A):c.1954C>A (p.Leu652Met) |
MISSENSE | |
| rs140012093 | Benign: not provided | 64,907,655(-) |
G/A NM_015104.3(ATG2A):c.2517C>T (p.Asn839=) |
SYNONYMOUS | |
| rs148192310 | Benign: not provided | 64,895,397(-) |
C/T NM_015104.3(ATG2A):c.5473G>A (p.Val1825Ile) |
MISSENSE | |
| rs61741398 | Benign: not provided | 64,907,602(-) |
G/A NM_015104.3(ATG2A):c.2570C>T (p.Ala857Val) |
MISSENSE | |
| rs61746812 | Benign: not provided | 64,909,798(-) |
C/T NM_015104.3(ATG2A):c.1990G>A (p.Val664Met) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
9.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
9.15;
87.85% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ATG2A Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- ATG2A
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATG2A Gene
Disorders for ATG2A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| auditory agnosia |
|
|
Search ATG2A in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ATG2A
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for ATG2A Gene
Publications for ATG2A Gene
- Human hAtg2A protein expressed in yeast is recruited to preautophagosomal structure but does not complement autophagy defects of atg2Δ strain. (PMID: 21887408) Romanyuk D … Żołądek T (Acta biochimica Polonica 2011) 2 3 4
- WIPI3 and WIPI4 β-propellers are scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy. (PMID: 28561066) Bakula D … Proikas-Cezanne T (Nature communications 2017) 3 4
- Mammalian Atg2 proteins are essential for autophagosome formation and important for regulation of size and distribution of lipid droplets. (PMID: 22219374) Velikkakath AK … Mizushima N (Molecular biology of the cell 2012) 3 4
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9455477) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 3 4
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