Aliases for ATG2A Gene

Aliases for ATG2A Gene

  • Autophagy Related 2A 2 3 5
  • Autophagy-Related Protein 2 Homolog A 3 4
  • KIAA0404 2 4
  • ATG2 Autophagy Related 2 Homolog A (S. Cerevisiae) 2
  • ATG2 Autophagy Related 2 Homolog A 3
  • ATG2A 5

External Ids for ATG2A Gene

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).

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:
ATG2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATG2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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};

    Three dimensional structures from OCA and Proteopedia for ATG2A Gene

    Alternative splice isoforms for ATG2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATG2A Gene

Post-translational modifications for ATG2A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

UniProtKB/Swiss-Prot:

ATG2A_HUMAN :
  • Belongs to the ATG2 family.
Family:
  • Belongs to the ATG2 family.
genes like me logo Genes that share domains with ATG2A: view

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

Gene Ontology (GO) - Molecular Function 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
genes like me logo Genes that share ontologies with ATG2A: view
genes like me logo Genes that share phenotypes with ATG2A: view

miRNA for ATG2A Gene

miRTarBase miRNAs that target ATG2A

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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.

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 ATG2A gene
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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATG2A Gene

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 --
genes like me logo Genes that share ontologies with ATG2A: view

Pathways & Interactions for ATG2A Gene

genes like me logo Genes that share pathways with ATG2A: view

Pathways by source for ATG2A Gene

1 Sino Biological pathway for ATG2A Gene

Gene Ontology (GO) - Biological Process for ATG2A Gene

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
genes like me logo Genes that share ontologies with ATG2A: view

No data available for SIGNOR curated interactions for ATG2A Gene

Drugs & Compounds for ATG2A Gene

No Compound Related Data Available

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 :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATG2A

Alternative Splicing Database (ASD) splice patterns (SP) for ATG2A Gene

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 ^
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
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:
SP8:
SP9:
SP10:

Relevant External Links for ATG2A Gene

GeneLoc Exon Structure for
ATG2A

Expression for ATG2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATG2A Gene

mRNA differential expression in normal tissues according to GTEx for ATG2A Gene

This gene is overexpressed in Whole Blood (x5.3).

Protein differential expression in normal tissues from HIPED for ATG2A Gene

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.370671

Evidence on tissue expression from TISSUES for ATG2A Gene

  • Nervous system(4.4)
  • Skin(4.3)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with ATG2A: view

Primer products 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.

Orthologs for ATG2A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ATG2A 30 31
  • 99.5 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATG2A 30 31
  • 88.39 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATG2A 30 31
  • 87.01 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Atg2a 30 17 31
  • 84.1 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atg2a 30
  • 83.7 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ATG2A 31
  • 49 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATG2A 31
  • 55 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atg2a 30
  • 60.77 (n)
Zebrafish
(Danio rerio)
Actinopterygii ATG2A 31
  • 66 (a)
OneToOne
LOC101883461 30
  • 58.18 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Atg2 31
  • 25 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea atg-2 30 31
  • 40.76 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATG2 31
  • 16 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1201 31
  • 37 (a)
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

Paralogs for ATG2A Gene

(1) SIMAP similar genes for ATG2A Gene using alignment to 3 proteins:

  • ATG2A_HUMAN
  • A0AUL9_HUMAN
  • H7C3T2_HUMAN
genes like me logo Genes that share paralogs with ATG2A: view

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

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ATG2A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ATG2A Gene

Variant ID Type Subtype PubMed ID
nsv526181 CNV gain 19592680
nsv528506 CNV loss 19592680
nsv555208 CNV loss 21841781
nsv555209 CNV loss 21841781
nsv951014 CNV deletion 24416366

Variation tolerance for ATG2A Gene

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

MalaCards: The human disease database

(1) MalaCards diseases for ATG2A Gene - From: COP

Disorder Aliases PubMed IDs
auditory agnosia
- elite association - COSMIC cancer census association via MalaCards
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
genes like me logo Genes that share disorders with ATG2A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATG2A Gene

Publications for ATG2A Gene

  1. 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
  2. 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
  3. 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
  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
  5. 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

Products for ATG2A Gene