Seroatlas · Human Serome Atlas

ATG9B

Autophagy-related protein 9B

Also known as: APG9L2, ATG9B_HUMAN, FLJ14885, NOS3AS, SONE

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q674R7
Gene: ATG9B
Ensembl: ENSG00000181652
Chromosome: 7
Canonical length: 924 aa
Protein class: Metabolic proteins, Predicted membrane proteins, Transporters
Quaternary structure: Homotrimer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

924 residues, UniProt reviewed canonical sequence.

>Q674R7|ATG9B
     1  MVSRMGWGGR RRRLGRWGDL GPGSVPLLPM PLPPPPPPSC RGPGGGRISI FSLSPAPHTR
    61  SSPSSFSPPT AGPPCSVLQG TGASQSCHSA LPIPATPPTQ AQPAMTPASA SPSWGSHSTP
   121  PLAPATPTPS QQCPQDSPGL RVGPLIPEQD YERLEDCDPE GSQDSPIHGE EQQPLLHVPE
   181  GLRGSWHHIQ NLDSFFTKIY SYHQRNGFAC ILLEDVFQLG QFIFIVTFTT FLLRCVDYNV
   241  LFANQPSNHT RPGPFHSKVT LSDAILPSAQ CAERIRSSPL LVLLLVLAAG FWLVQLLRSV
   301  CNLFSYWDIQ VFYREALHIP PEELSSVPWA EVQSRLLALQ RSGGLCVQPR PLTELDIHHR
   361  ILRYTNYQVA LANKGLLPAR CPLPWGGSAA FLSRGLALNV DLLLFRGPFS LFRGGWELPH
   421  AYKRSDQRGA LAARWGRTVL LLAALNLALS PLVLAWQVLH VFYSHVELLR REPGALGARG
   481  WSRLARLQLR HFNELPHELR ARLARAYRPA AAFLRTAAPP APLRTLLARQ LVFFAGALFA
   541  ALLVLTVYDE DVLAVEHVLT AMTALGVTAT VARSFIPEEQ CQGRAPQLLL QTALAHMHYL
   601  PEEPGPGGRD RAYRQMAQLL QYRAVSLLEE LLSPLLTPLF LLFWFRPRAL EIIDFFHHFT
   661  VDVAGVGDIC SFALMDVKRH GHPQWLSAGQ TEASLSQRAE DGKTELSLMR FSLAHPLWRP
   721  PGHSSKFLGH LWGRVQQDAA AWGATSARGP STPGVLSNCT SPLPEAFLAN LFVHPLLPPR
   781  DLSPTAPCPA AATASLLASI SRIAQDPSSV SPGGTGGQKL AQLPELASAE MSLHVIYLHQ
   841  LHQQQQQQEP WGEAAASILS RPCSSPSQPP SPDEEKPSWS SDGSSPASSP RQQWGTQKAR
   901  NLFPGGFQVT TDTQKEPDRA SCTD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATG9B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 4
Mean surface accessibility (rSASA): 0.42
Highest tissue expression: 9.9 nTPM

Expression across tissuesHPA

Tissue

esophagus: 9.9 nTPM
testis: 6.9 nTPM
pituitary gland: 5.9 nTPM
vagina: 4.8 nTPM
placenta: 4.7 nTPM
cervix: 3.9 nTPM

Single-cell type

syncytiotrophoblasts: 393 nCPM
esophageal apical cells: 312 nCPM
epididymal efferent duct ciliated cells: 74 nCPM
fallopian tube ciliated cells: 59 nCPM
late primary spermatocytes: 58 nCPM
migrating cytotrophoblasts: 44 nCPM

Immune cell

naive CD4 T-cell: 0.6 nTPM
memory CD4 T-cell: 0.2 nTPM
memory CD8 T-cell: 0.1 nTPM
naive CD8 T-cell: 0.1 nTPM
neutrophil: 0.1 nTPM
T-reg: 0.1 nTPM

Brain region

basal ganglia: 2.2 nTPM
hypothalamus: 1.3 nTPM
medulla oblongata: 1.1 nTPM
pons: 0.9 nTPM
thalamus: 0.9 nTPM
cerebral cortex: 0.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATG9B.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 122 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Premature ovarian failure

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.11
gnomAD pLI: 0
gnomAD missense Z: -0.52

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

phospholipid scramblase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ATG9B as an antibody target. Whether an autoantibody or antibody against ATG9B could matter depends on whether native ATG9B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ATG9B is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ATG9B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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