Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	285973
Gene name	Autophagy related 9B
Gene symbol	ATG9B
Synonyms (NCBI Gene)	APG9L2NOS3ASSONE
Chromosome	7
Chromosome location	7q36.1
Summary	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

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miRTarBase ID	miRNA	Experiments
MIRT805702	hsa-miR-103a	CLIP-seq
MIRT805703	hsa-miR-107	CLIP-seq
MIRT805704	hsa-miR-1207-3p	CLIP-seq
MIRT805705	hsa-miR-125a-5p	CLIP-seq
MIRT805706	hsa-miR-125b	CLIP-seq
MIRT805707	hsa-miR-1288	CLIP-seq
MIRT805708	hsa-miR-1291	CLIP-seq
MIRT805709	hsa-miR-1587	CLIP-seq
MIRT805710	hsa-miR-204	CLIP-seq
MIRT805711	hsa-miR-211	CLIP-seq
MIRT805712	hsa-miR-22	CLIP-seq
MIRT805713	hsa-miR-296-5p	CLIP-seq
MIRT805714	hsa-miR-3151	CLIP-seq
MIRT805715	hsa-miR-3157-5p	CLIP-seq
MIRT805716	hsa-miR-3199	CLIP-seq
MIRT805717	hsa-miR-3607-3p	CLIP-seq
MIRT805718	hsa-miR-3665	CLIP-seq
MIRT805719	hsa-miR-3686	CLIP-seq
MIRT805720	hsa-miR-369-5p	CLIP-seq
MIRT805721	hsa-miR-3714	CLIP-seq
MIRT805722	hsa-miR-377	CLIP-seq
MIRT805723	hsa-miR-378g	CLIP-seq
MIRT805724	hsa-miR-3944-5p	CLIP-seq
MIRT805725	hsa-miR-4319	CLIP-seq
MIRT805726	hsa-miR-4433	CLIP-seq
MIRT805727	hsa-miR-4446-3p	CLIP-seq
MIRT805728	hsa-miR-4481	CLIP-seq
MIRT805729	hsa-miR-4492	CLIP-seq
MIRT805730	hsa-miR-4498	CLIP-seq
MIRT805731	hsa-miR-4505	CLIP-seq
MIRT805732	hsa-miR-4656	CLIP-seq
MIRT805733	hsa-miR-4675	CLIP-seq
MIRT805734	hsa-miR-4690-3p	CLIP-seq
MIRT805735	hsa-miR-4736	CLIP-seq
MIRT805736	hsa-miR-4741	CLIP-seq
MIRT805737	hsa-miR-4745-5p	CLIP-seq
MIRT805738	hsa-miR-4755-3p	CLIP-seq
MIRT805739	hsa-miR-4755-5p	CLIP-seq
MIRT805740	hsa-miR-518a-5p	CLIP-seq
MIRT805741	hsa-miR-527	CLIP-seq
MIRT805742	hsa-miR-548an	CLIP-seq
MIRT805743	hsa-miR-623	CLIP-seq
MIRT805744	hsa-miR-642a	CLIP-seq
MIRT805745	hsa-miR-665	CLIP-seq
MIRT805746	hsa-miR-762	CLIP-seq
MIRT805747	hsa-miR-764	CLIP-seq
MIRT805748	hsa-miR-940	CLIP-seq
MIRT805704	hsa-miR-1207-3p	CLIP-seq
MIRT805705	hsa-miR-125a-5p	CLIP-seq
MIRT805706	hsa-miR-125b	CLIP-seq
MIRT805708	hsa-miR-1291	CLIP-seq
MIRT805712	hsa-miR-22	CLIP-seq
MIRT805714	hsa-miR-3151	CLIP-seq
MIRT805725	hsa-miR-4319	CLIP-seq
MIRT805726	hsa-miR-4433	CLIP-seq
MIRT805728	hsa-miR-4481	CLIP-seq
MIRT805737	hsa-miR-4745-5p	CLIP-seq
MIRT805738	hsa-miR-4755-3p	CLIP-seq
MIRT805745	hsa-miR-665	CLIP-seq
MIRT805704	hsa-miR-1207-3p	CLIP-seq
MIRT805705	hsa-miR-125a-5p	CLIP-seq
MIRT805706	hsa-miR-125b	CLIP-seq
MIRT805708	hsa-miR-1291	CLIP-seq
MIRT805712	hsa-miR-22	CLIP-seq
MIRT805714	hsa-miR-3151	CLIP-seq
MIRT805725	hsa-miR-4319	CLIP-seq
MIRT805726	hsa-miR-4433	CLIP-seq
MIRT805728	hsa-miR-4481	CLIP-seq
MIRT805737	hsa-miR-4745-5p	CLIP-seq
MIRT805738	hsa-miR-4755-3p	CLIP-seq
MIRT805745	hsa-miR-665	CLIP-seq
MIRT805704	hsa-miR-1207-3p	CLIP-seq
MIRT805705	hsa-miR-125a-5p	CLIP-seq
MIRT805706	hsa-miR-125b	CLIP-seq
MIRT805708	hsa-miR-1291	CLIP-seq
MIRT805712	hsa-miR-22	CLIP-seq
MIRT805714	hsa-miR-3151	CLIP-seq
MIRT805725	hsa-miR-4319	CLIP-seq
MIRT805726	hsa-miR-4433	CLIP-seq
MIRT805728	hsa-miR-4481	CLIP-seq
MIRT805737	hsa-miR-4745-5p	CLIP-seq
MIRT805738	hsa-miR-4755-3p	CLIP-seq
MIRT805745	hsa-miR-665	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IDA	15755735
GO:0000139	Component	Golgi membrane	ISS
GO:0000407	Component	Phagophore assembly site	IBA
GO:0000423	Process	Mitophagy	IBA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005776	Component	Autophagosome	IBA
GO:0005776	Component	Autophagosome	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005802	Component	Trans-Golgi network	ISS
GO:0006869	Process	Lipid transport	IEA
GO:0006914	Process	Autophagy	IEA
GO:0016020	Component	Membrane	IEA
GO:0017121	Process	Plasma membrane phospholipid scrambling	IEA
GO:0017128	Function	Phospholipid scramblase activity	ISS
GO:0034045	Component	Phagophore assembly site membrane	IEA
GO:0034497	Process	Protein localization to phagophore assembly site	IBA
GO:0034727	Process	Piecemeal microautophagy of the nucleus	IBA
GO:0055038	Component	Recycling endosome membrane	ISS
GO:0060349	Process	Bone morphogenesis	ISS
GO:0061709	Process	Reticulophagy	IBA
GO:0097300	Process	Programmed necrotic cell death	ISS

MIM	HGNC	e!Ensembl
612205	21899	ENSG00000181652

Q674R7

Protein name

Autophagy-related protein 9B (APG9-like 2) (Nitric oxide synthase 3-overlapping antisense gene protein) (Protein sONE)

Protein function

Phospholipid scramblase involved in autophagy by mediating autophagosomal membrane expansion. Cycles between the preautophagosomal structure/phagophore assembly site (PAS) and the cytoplasmic vesicle pool and supplies membrane for the growing au

PDB

8POE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04109	APG9	184 → 676	Autophagy protein Apg9	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in placenta (trophoblast cells) and pituitary gland. Not expressed in vascular endothelial. {ECO:0000269|PubMed:15234981}.

Sequence

MVSRMGWGGRRRRLGRWGDLGPGSVPLLPMPLPPPPPPSCRGPGGGRISIFSLSPAPHTR
SSPSSFSPPTAGPPCSVLQGTGASQSCHSALPIPATPPTQAQPAMTPASASPSWGSHSTP
PLAPATPTPSQQCPQDSPGLRVGPLIPEQDYERLEDCDPEGSQDSPIHGEEQQPLLHVPE
GLRGSWHHIQNLDSFFTKIYSYHQRNGFACILLEDVFQLGQFIFIVTFTTFLLRCVDYNV
LFANQPSNHTRPGPFHSKVTLSDAILPSAQCAERIRSSPLLVLLLVLAAGFWLVQLLRSV
CNLFSYWDIQVFYREALHIPPEELSSVPWAEVQSRLLALQRSGGLCVQPRPLTELDIHHR
ILRYTNYQVALANKGLLPARCPLPWGGSAAFLSRGLALNVDLLLFRGPFSLFRGGWELPH
AYKRSDQRGALAARWGRTVLLLAALNLALSPLVLAWQVLHVFYSHVELLRREPGALGARG
WSRLARLQLRHFNELPHELRARLARAYRPAAAFLRTAAPPAPLRTLLARQLVFFAGALFA
ALLVLTVYDEDVLAVEHVLTAMTALGVTATVARSFIPEEQCQGRAPQLLLQTALAHMHYL
PEEPGPGGRDRAYRQMAQLLQYRAVSLLEELLSPLLTPLFLLFWFRPRALEIIDFFHHFT
VDVAGVGDICSFALMDVKRHGHPQWLSAGQTEASLSQRAEDGKTELSLMRFSLAHPLWRP
PGHSSKFLGHLWGRVQQDAAAWGATSARGPSTPGVLSNCTSPLPEAFLANLFVHPLLPPR
DLSPTAPCPAAATASLLASISRIAQDPSSVSPGGTGGQKLAQLPELASAEMSLHVIYLHQ
LHQQQQQQEPWGEAAASILSRPCSSPSQPPSPDEEKPSWSSDGSSPASSPRQQWGTQKAR
NLFPGGFQVTTDTQKEPDRASCTD

Sequence length

924

Interactions

View interactions

	KEGG		Reactome
	Autophagy - other Mitophagy - animal Autophagy - animal		Macroautophagy

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Premature ovarian failure	Likely pathogenic	rs996929151	RCV001270209	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Lung cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (16)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	38403804	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32649310	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28923830	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28923830, 31626592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28923830		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	31638164	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32943609	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35882624	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	37970991	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	29749543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32264916	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	27265029		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	29749543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	29749543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	29749543	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31215164	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ATG9B (autophagy related 9B)