This gene functions in the regulation of autophagy, a lysosomal degradation pathway. This gene also functions as an antisense transcript in the posttranscriptional regulation of the endothelial nitric oxide synthase 3 gene, which has 3' overlap with this gene on the opposite strand. Mutations in this gene and disruption of the autophagy process have been associated with multipl... See more...

Aliases for ATG9B Gene

Aliases for ATG9B Gene

  • Autophagy Related 9B 2 3 5
  • APG9L2 2 3 4
  • Nitric Oxide Synthase 3-Overlapping Antisense Gene Protein 3 4
  • Autophagy-Related Protein 9B 3 4
  • APG9-Like 2 3 4
  • NOS3AS 3 4
  • SONE 2 3
  • ATG9 Autophagy Related 9 Homolog B (S. Cerevisiae) 2
  • Endothelial Nitric Oxide Synthase Antisense 3
  • ATG9 Autophagy Related 9 Homolog B 3
  • Nitric Oxide Synthase 3 Antisense 2
  • Autophagy 9-Like 2 Protein 3
  • Protein SONE 4
  • FLJ14885 2
  • ATG9B 5

External Ids for ATG9B Gene

Previous HGNC Symbols for ATG9B Gene

  • NOS3AS

Previous GeneCards Identifiers for ATG9B Gene

  • GC07U901563
  • GC07M150170
  • GC07M150340
  • GC07M150710
  • GC07M144521

Summaries for ATG9B Gene

Entrez Gene Summary for ATG9B Gene

  • This gene functions in the regulation of autophagy, a lysosomal degradation pathway. This gene also functions as an antisense transcript in the posttranscriptional regulation of the endothelial nitric oxide synthase 3 gene, which has 3' overlap with this gene on the opposite strand. Mutations in this gene and disruption of the autophagy process have been associated with multiple cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]

GeneCards Summary for ATG9B Gene

ATG9B (Autophagy Related 9B) is a Protein Coding gene. Diseases associated with ATG9B include Hypertension, Essential. Among its related pathways are Macroautophagy and Mitophagy - animal. An important paralog of this gene is ATG9A.

UniProtKB/Swiss-Prot Summary for ATG9B Gene

  • Involved in autophagy and cytoplasm to vacuole transport (Cvt) vesicle formation. Plays a key role in the organization of the preautophagosomal structure/phagophore assembly site (PAS), the nucleating site for formation of the sequestering vesicle (By similarity).

Additional gene information for ATG9B Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATG9B Gene

Genomics for ATG9B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATG9B 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 ATG9B on the GeneHancer Hub at the UCSC Golden Path

Top Transcription factor binding sites by QIAGEN in the ATG9B gene promoter:
  • AREB6
  • E47
  • Lmo2
  • Pax-4a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • USF-1

Genomic Locations for ATG9B Gene

Genomic Locations for ATG9B Gene
chr7:151,012,209-151,028,267
(GRCh38/hg38)
Size:
16,059 bases
Orientation:
Minus strand
chr7:150,709,297-150,721,586
(GRCh37/hg19)
Size:
12,290 bases
Orientation:
Minus strand

Genomic View for ATG9B Gene

Genes around ATG9B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATG9B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATG9B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATG9B Gene

Proteins for ATG9B Gene

  • Protein details for ATG9B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q674R7-ATG9B_HUMAN
    Recommended name:
    Autophagy-related protein 9B
    Protein Accession:
    Q674R7
    Secondary Accessions:
    • A1A5D3
    • Q6JRW5
    • Q8N8I8

    Protein attributes for ATG9B Gene

    Size:
    924 amino acids
    Molecular mass:
    101019 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ86941.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AC010973; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • ATG9B gene is located on the opposite DNA strand of the NOS3 gene at chromosome 7q36. The genes are oriented in a tail-to-tail configuration and the mRNAs encoding ATG9B and NOS3 are complementary for 662 nucleotides. ATG9B transcription may a role in NOS3 transcription regulation.

    Alternative splice isoforms for ATG9B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATG9B Gene

Post-translational modifications for ATG9B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ATG9B Gene

Domains & Families for ATG9B Gene

Gene Families for ATG9B Gene

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

Protein Domains for ATG9B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ATG9B Gene

GenScript: Design optimal peptide antigens:
  • Nitric oxide synthase 3-overlapping antisense gene protein (ATG9B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q674R7

UniProtKB/Swiss-Prot:

ATG9B_HUMAN :
  • Belongs to the ATG9 family.
Family:
  • Belongs to the ATG9 family.
genes like me logo Genes that share domains with ATG9B: view

Function for ATG9B Gene

Molecular function for ATG9B Gene

UniProtKB/Swiss-Prot Function:
Involved in autophagy and cytoplasm to vacuole transport (Cvt) vesicle formation. Plays a key role in the organization of the preautophagosomal structure/phagophore assembly site (PAS), the nucleating site for formation of the sequestering vesicle (By similarity).
UniProtKB/Swiss-Prot Induction:
By hypoxia, leading to inhibit NOS3 expression.

Phenotypes From GWAS Catalog for ATG9B Gene

genes like me logo Genes that share phenotypes with ATG9B: view

Animal Models for ATG9B Gene

MGI Knock Outs for ATG9B:
  • Atg9b Atg9b<tm1b(KOMP)Mbp>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATG9B

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ATG9B Gene

Localization for ATG9B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATG9B Gene

Cytoplasmic vesicle, autophagosome membrane. Multi-pass membrane protein. Note=Under amino acid starvation or rapamycin treatment, redistributes from a juxtanuclear clustered pool to a dispersed peripheral cytosolic pool. The starvation-induced redistribution depends on ULK1 and ATG13.

Gene Ontology (GO) - Cellular Components for ATG9B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000407 phagophore assembly site IBA 21873635
GO:0000421 autophagosome membrane IEA --
GO:0005737 cytoplasm IEA --
GO:0005776 autophagosome IEA,IBA 21873635
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ATG9B: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for ATG9B Gene

Pathways & Interactions for ATG9B Gene

genes like me logo Genes that share pathways with ATG9B: view

Pathways by source for ATG9B Gene

1 Sino Biological pathway for ATG9B Gene
1 BioSystems pathway for ATG9B Gene
2 Reactome pathways for ATG9B Gene

Interacting Proteins for ATG9B Gene

Gene Ontology (GO) - Biological Process for ATG9B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagosome assembly IDA 15755735
GO:0000422 autophagy of mitochondrion IBA 21873635
GO:0006914 autophagy IEA --
GO:0034497 protein localization to phagophore assembly site IBA 21873635
GO:0044805 late nucleophagy IBA 21873635
genes like me logo Genes that share ontologies with ATG9B: view

No data available for SIGNOR curated interactions for ATG9B Gene

Drugs & Compounds for ATG9B Gene

No Compound Related Data Available

Transcripts for ATG9B Gene

mRNA/cDNA for ATG9B Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATG9B

Alternative Splicing Database (ASD) splice patterns (SP) for ATG9B Gene

No ASD Table

Relevant External Links for ATG9B Gene

GeneLoc Exon Structure for
ATG9B

Expression for ATG9B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATG9B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATG9B Gene

This gene is overexpressed in Esophagus - Mucosa (x12.5), Skin - Not Sun Exposed (Suprapubic) (x5.9), Skin - Sun Exposed (Lower leg) (x5.7), Pituitary (x5.2), Vagina (x4.9), Cervix - Ectocervix (x4.5), and Testis (x4.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ATG9B Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATG9B

SOURCE GeneReport for Unigene cluster for ATG9B Gene:

Hs.707300

mRNA Expression by UniProt/SwissProt for ATG9B Gene:

Q674R7-ATG9B_HUMAN
Tissue specificity: Highly expressed in placenta (trophoblast cells) and pituitary gland. Not expressed in vascular endothelial.
genes like me logo Genes that share expression patterns with ATG9B: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATG9B Gene

Orthologs for ATG9B Gene

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

Orthologs for ATG9B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ATG9B 30 31
  • 99.46 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATG9B 30
  • 87.18 (n)
Cow
(Bos Taurus)
Mammalia ATG9B 30 31
  • 86.11 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Atg9b 30 17 31
  • 85.58 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atg9b 30
  • 84.95 (n)
Oppossum
(Monodelphis domestica)
Mammalia ATG9B 31
  • 70 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATG9B 31
  • 48 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii atg9b 31
  • 46 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Atg9 31
  • 32 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea atg-9 31
  • 22 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATG9 31
  • 15 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2027 31
  • 43 (a)
OneToMany
Species where no ortholog for ATG9B 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)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for ATG9B Gene

ENSEMBL:
Gene Tree for ATG9B (if available)
TreeFam:
Gene Tree for ATG9B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATG9B: view image

Paralogs for ATG9B Gene

Paralogs for ATG9B Gene

(1) SIMAP similar genes for ATG9B Gene using alignment to 4 proteins:

  • ATG9B_HUMAN
  • S4R336_HUMAN
  • S4R430_HUMAN
  • U3KPT5_HUMAN
genes like me logo Genes that share paralogs with ATG9B: view

Variants for ATG9B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATG9B Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
709432 Benign: not provided 151,013,792(-) G/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
711394 Likely Benign: not provided 151,013,280(-) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
713974 Benign: not provided 151,014,031(-) C/T SYNONYMOUS_VARIANT
728798 Benign: not provided 151,013,304(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
734607 Benign: not provided 151,014,055(-) C/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ATG9B Gene

Structural Variations from Database of Genomic Variants (DGV) for ATG9B Gene

Variant ID Type Subtype PubMed ID
dgv1252e199 CNV deletion 23128226
dgv3695n106 OTHER inversion 24896259
esv3542654 CNV deletion 23714750
esv3615476 CNV loss 21293372
nsv1067934 OTHER inversion 25765185
nsv1151906 OTHER inversion 26484159
nsv526410 CNV loss 19592680
nsv951648 CNV deletion 24416366

Variation tolerance for ATG9B Gene

Gene Damage Index Score: 9.28; 88.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATG9B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATG9B

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATG9B Gene

Disorders for ATG9B Gene

MalaCards: The human disease database

(1) MalaCards diseases for ATG9B Gene - From: LncRNADisease

Disorder Aliases PubMed IDs
hypertension, essential
  • eht
- elite association - COSMIC cancer census association via MalaCards
Search ATG9B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ATG9B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ATG9B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATG9B Gene

Publications for ATG9B Gene

  1. Post-transcriptional regulation of endothelial nitric-oxide synthase by an overlapping antisense mRNA transcript. (PMID: 15234981) Robb GB … Marsden PA (The Journal of biological chemistry 2004) 2 3 4 23
  2. Endothelial nitric-oxide synthase antisense (NOS3AS) gene encodes an autophagy-related protein (APG9-like2) highly expressed in trophoblast. (PMID: 15755735) Yamada T … Scherer SW (The Journal of biological chemistry 2005) 2 3 4
  3. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P … Inskip PD (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 41
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  5. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 41

Products for ATG9B Gene

  • Signalway Proteins for ATG9B

Sources for ATG9B Gene