This gene encodes a protein required for autophagy. The encoded protein is involved in autophagosome formation. A germline duplication of a region that includes this gene is associated with predisposition to myeloid malignancies. [provided by RefSeq, Jul 2016] See more...

Aliases for ATG2B Gene

Aliases for ATG2B Gene

  • Autophagy Related 2B 2 3 5
  • Autophagy-Related Protein 2 Homolog B 3 4
  • C14orf103 3 4
  • ATG2 Autophagy Related 2 Homolog B (S. Cerevisiae) 2
  • Chromosome 14 Open Reading Frame 103 2
  • ATG2 Autophagy Related 2 Homolog B 3
  • FLJ10242 2
  • ATG2B 5

External Ids for ATG2B Gene

Previous HGNC Symbols for ATG2B Gene

  • C14orf103

Previous GeneCards Identifiers for ATG2B Gene

  • GC14M095817
  • GC14M096747
  • GC14M076932

Summaries for ATG2B Gene

Entrez Gene Summary for ATG2B Gene

  • This gene encodes a protein required for autophagy. The encoded protein is involved in autophagosome formation. A germline duplication of a region that includes this gene is associated with predisposition to myeloid malignancies. [provided by RefSeq, Jul 2016]

GeneCards Summary for ATG2B Gene

ATG2B (Autophagy Related 2B) is a Protein Coding gene. Among its related pathways are Pathways of neurodegeneration - multiple diseases and Autophagy Pathway. An important paralog of this gene is ATG2A.

UniProtKB/Swiss-Prot Summary for ATG2B Gene

  • Required for both autophagosome formation and regulation of lipid droplet morphology and dispersion (PubMed:22219374). 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 (PubMed:31721365).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATG2B Gene

Genomics for ATG2B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATG2B 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
GH14J096361 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 264.8 -0.2 -166 5 TBP MXD4 CEBPA MNT SMAD5 ETS1 POLR2A BHLHE40 ELF1 ZNF610 GSKIP ATG2B lnc-AK7-2-001 lnc-AK7-2-002 SCARNA13 SNHG10 lnc-ATG2B-4 lnc-AK7-1 AK7
GH14J095494 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 25.9 +867.2 867205 4 SP1 BCL11A IRF4 TRIM22 EBF1 SMARCA5 BCL6 CBFB ZBTB40 SPI1 ATG2B SNHG10 SCARNA13 DICER1 BDKRB1 SYNE3 CLMN LOC101929107 HSALNG0103438
GH14J096403 Enhancer 0.7 Ensembl 38.6 -40.4 -40360 1 ZNF623 ZNF433 REST ZNF547 ZNF664 ZNF530 AEBP2 ZNF140 ZNF560 ZBTB8A HSALNG0103504 SNHG10 PAPOLA SCARNA13 ATG2B GSKIP AK7 lnc-ATG2B-14
GH14J096796 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.1 -434.6 -434560 3.4 CHD2 TBP SP1 SIX5 NR2C1 MNT IKZF1 SMAD5 ETS1 IRF2 VRK1 ATG2B HSALNG0103531
GH14J096224 Enhancer 0.9 Ensembl ENCODE dbSUPER 14.6 +137.8 137809 2.9 CTCF RAD21 SMC3 FOXA1 ZFP36 ZNF140 KLF1 MNT EGR2 SNHG10 SCARNA13 PAPOLA ATG2B MK280151 ENSG00000259036 BDKRB2 ENSG00000258691 BDKRB1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATG2B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATG2B

Top Transcription factor binding sites by QIAGEN in the ATG2B gene promoter:
  • COMP1
  • FOXL1
  • FOXO4
  • GR
  • GR-alpha
  • Hlf
  • HSF1 (long)
  • HSF1short
  • LyF-1
  • Sox9

Genomic Locations for ATG2B Gene

Latest Assembly
chr14:96,279,195-96,363,341
(GRCh38/hg38)
Size:
84,147 bases
Orientation:
Minus strand

Previous Assembly
chr14:96,745,532-96,829,678
(GRCh37/hg19 by Entrez Gene)
Size:
84,147 bases
Orientation:
Minus strand

chr14:96,747,595-96,830,207
(GRCh37/hg19 by Ensembl)
Size:
82,613 bases
Orientation:
Minus strand

Genomic View for ATG2B Gene

Genes around ATG2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATG2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATG2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATG2B Gene

Proteins for ATG2B Gene

  • Protein details for ATG2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96BY7-ATG2B_HUMAN
    Recommended name:
    Autophagy-related protein 2 homolog B
    Protein Accession:
    Q96BY7
    Secondary Accessions:
    • Q6ZRE7
    • Q96DQ3
    • Q9NW80

    Protein attributes for ATG2B Gene

    Size:
    2078 amino acids
    Molecular mass:
    232763 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91504.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB70872.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305}; Sequence=BAC87363.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for ATG2B Gene

Post-translational modifications for ATG2B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATG2B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ATG2B Gene

Domains & Families for ATG2B Gene

Gene Families for ATG2B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for ATG2B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ATG2B Gene

GenScript: Design optimal peptide antigens:
  • Autophagy-related protein 2 homolog B (ATG2B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96BY7

UniProtKB/Swiss-Prot:

ATG2B_HUMAN :
  • Belongs to the ATG2 family.
Family:
  • Belongs to the ATG2 family.
genes like me logo Genes that share domains with ATG2B: view

Function for ATG2B Gene

Molecular function for ATG2B Gene

UniProtKB/Swiss-Prot Function:
Required for both autophagosome formation and regulation of lipid droplet morphology and dispersion (PubMed:22219374). 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 (PubMed:31721365).

Phenotypes From GWAS Catalog for ATG2B Gene

Gene Ontology (GO) - Molecular Function for ATG2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032266 phosphatidylinositol-3-phosphate binding IBA 21873635
GO:0120013 intermembrane lipid transfer activity IDA 31721365
genes like me logo Genes that share ontologies with ATG2B: view
genes like me logo Genes that share phenotypes with ATG2B: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATG2B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATG2B Gene

Localization for ATG2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATG2B 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 ATG2B gene
Compartment Confidence
nucleus 5
cytosol 2
lysosome 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ATG2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000407 phagophore assembly site IBA 21873635
GO:0005654 nucleoplasm IDA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005811 lipid droplet IEA --
genes like me logo Genes that share ontologies with ATG2B: view

Pathways & Interactions for ATG2B Gene

genes like me logo Genes that share pathways with ATG2B: view

Pathways by source for ATG2B Gene

1 Sino Biological pathway for ATG2B Gene

Gene Ontology (GO) - Biological Process for ATG2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagosome assembly IBA 21873635
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 ATG2B: view

No data available for SIGNOR curated interactions for ATG2B Gene

Drugs & Compounds for ATG2B Gene

No Compound Related Data Available

Transcripts for ATG2B Gene

mRNA/cDNA for ATG2B Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
7 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 ATG2B

Alternative Splicing Database (ASD) splice patterns (SP) for ATG2B Gene

No ASD Table

Relevant External Links for ATG2B Gene

GeneLoc Exon Structure for
ATG2B

Expression for ATG2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATG2B Gene

Protein differential expression in normal tissues from HIPED for ATG2B Gene

This gene is overexpressed in Fetal Brain (12.0), Bone marrow mesenchymal stem cell (10.0), Frontal cortex (9.4), Retina (8.6), and Pancreas (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATG2B Gene



Protein tissue co-expression partners for ATG2B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATG2B

SOURCE GeneReport for Unigene cluster for ATG2B Gene:

Hs.168241

Evidence on tissue expression from TISSUES for ATG2B Gene

  • Liver(4.4)
  • Skin(4.3)
  • Nervous system(3.2)
genes like me logo Genes that share expression patterns with ATG2B: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATG2B Gene

Orthologs for ATG2B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATG2B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ATG2B 30 31
  • 99.6 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATG2B 30 31
  • 91.13 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATG2B 30 31
  • 90.38 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ATG2B 31
  • 87 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ATG2B 31
  • 86 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Atg2b 30 17 31
  • 85.69 (n)
OneToOne
Chicken
(Gallus gallus)
Aves ATG2B 30 31
  • 78.8 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATG2B 31
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atg2b 30
  • 71.22 (n)
Str.8303 30
Zebrafish
(Danio rerio)
Actinopterygii ATG2B 31
  • 75 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004092 30
  • 46.99 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Atg2 30 31
  • 45.03 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea atg-2 31
  • 18 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATG2 31
  • 17 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1201 31
  • 35 (a)
OneToMany
Species where no ortholog for ATG2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • 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 ATG2B Gene

ENSEMBL:
Gene Tree for ATG2B (if available)
TreeFam:
Gene Tree for ATG2B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATG2B: view image

Paralogs for ATG2B Gene

Paralogs for ATG2B Gene

(1) SIMAP similar genes for ATG2B Gene using alignment to 2 proteins:

  • ATG2B_HUMAN
  • L8E8U7_HUMAN
genes like me logo Genes that share paralogs with ATG2B: view

Variants for ATG2B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATG2B Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs114955360 Benign: not provided 96,303,229(-) C/T
NM_018036.7(ATG2B):c.4869G>A (p.Pro1623=)
SYNONYMOUS
rs116026484 Benign: not provided 96,317,747(-) A/G
NM_018036.7(ATG2B):c.2988T>C (p.Asn996=)
SYNONYMOUS
rs117507139 Benign: not provided 96,332,503(-) C/T
NM_018036.7(ATG2B):c.1360G>A (p.Val454Met)
MISSENSE
rs142484701 Benign: not provided 96,332,343(-) G/A
NM_018036.7(ATG2B):c.1430C>T (p.Pro477Leu)
MISSENSE
rs150538996 Benign: not provided 96,301,998(-) G/A
NM_018036.7(ATG2B):c.5139+9C>T
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ATG2B 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 ATG2B Gene

Variant ID Type Subtype PubMed ID
esv3635420 CNV gain 21293372

Variation tolerance for ATG2B Gene

Residual Variation Intolerance Score: 34.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.67; 78.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATG2B Gene

Human Gene Mutation Database (HGMD)
ATG2B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATG2B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATG2B Gene

Disorders for ATG2B Gene

Additional Disease Information for ATG2B

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 disorders were found for ATG2B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATG2B Gene

Publications for ATG2B Gene

  1. Human ATG2B possesses a lipid transfer activity which is accelerated by negatively charged lipids and WIPI4. (PMID: 31721365) Osawa T … Noda NN (Genes to cells : devoted to molecular & cellular mechanisms 2020) 3 4
  2. 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
  3. miRNA-130a targets ATG2B and DICER1 to inhibit autophagy and trigger killing of chronic lymphocytic leukemia cells. (PMID: 22350415) Kovaleva V … Seiffert M (Cancer research 2012) 2 3
  4. Frameshift mutations of autophagy-related genes ATG2B, ATG5, ATG9B and ATG12 in gastric and colorectal cancers with microsatellite instability. (PMID: 19197948) Kang MR … Lee SH (The Journal of pathology 2009) 3 41
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for ATG2B Gene

Sources for ATG2B Gene