Gene Gene information from NCBI Gene database.
Entrez ID 55102
Gene name Autophagy related 2B
Gene symbol ATG2B
Synonyms (NCBI Gene)
BLTP4BC14orf103
Chromosome 14
Chromosome location 14q32.2
Summary 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
miRNA miRNA information provided by mirtarbase database.
509
miRTarBase ID miRNA Experiments Reference
MIRT006259 hsa-miR-130a-3p Luciferase reporter assay 22350415
MIRT006259 hsa-miR-130a-3p Luciferase reporter assay 22350415
MIRT006259 hsa-miR-130a-3p Luciferase reporter assay 22350415
MIRT016131 hsa-miR-421 Sequencing 20371350
MIRT438869 hsa-miR-30d-5p Luciferase reporter assay 23274497
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IBA
GO:0000407 Component Phagophore assembly site IBA
GO:0000422 Process Autophagy of mitochondrion IBA
GO:0000425 Process Pexophagy IBA
GO:0005515 Function Protein binding IPI 20562859, 33961781, 34524948, 35271311
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616226 20187 ENSG00000066739
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96BY7
Protein name Autophagy-related protein 2 homolog B
Protein function Lipid transfer protein required for both autophagosome formation and regulation of lipid droplet morphology and dispersion (PubMed:22219374, PubMed:31721365). Tethers the edge of the isolation membrane (IM) to the endoplasmic reticulum (ER) and
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12624 Chorein_N 11 127 N-terminal region of Chorein or VPS13 Family
PF09333 ATG_C 1979 2074 Autophagy-related protein C terminal domain Family
Sequence
MPWPFSESIKKRACRYLLQRYLGHFLQEKLSLEQLSLDLYQGTGSLAQVPLDKWCLNEIL
ESADAPLEVTEGFIQSISLSVPWGSLLQDNCALEVRGLEMVFRPRPRPATGSEPMYWSSF
MTSSMQL
AKECLSQKLTDEQGEGSQPFEGLEKFAETIETVLRRVKVTFIDTVLRIEHVPE
NSKTGTALEIRIERTVYCDETADESSGINVHQPTAFAHKLLQLSGVSLFWDEFSASAKSS
PVCSTAPVETEPKLSPSWNPKIIYEPHPQLTRNLPEIAPSDPVQIGRLIGRLELSLTLKQ
NEVLPGAKLDVDGQIDSIHLLLSPRQVHLLLDMLAAIAGPENSSKIGLANKDRKNRPMQQ
EDEYRIQMELNRYYLRKDSLSVGVSSEQSFYETETARTPSSREEEVFFSMADMDMSHSLS
SLPPLGDPPNMDLELSLTSTYTNTPAGSPLSATVLQPTWGEFLDHHKEQPVRGSTFPSNL
VHPTPLQKTSLPSRSVSVDESRPELIFRLAVGTFSISVLHIDPLSPPETSQNLNPLTPMA
VAFFTCIEKIDPARFSTEDFKSFRAVFAEACSHDHLRFIGTGIKVSYEQRQRSASRYFST
DMSIGQMEFLECLFPTDFHSVPPHYTELLTFHSKEETGSHSPVCLQLHYKHSENRGPQGN
QARLSSVPHKAELQIKLNPVCCELDISIVDRLNSLLQPQKLATVEMMASHMYTSYNKHIS
LHKAFTEVFLDDSHSPANCRISVQVATPALNLSVRFPIPDLRSDQERGPWFKKSLQKEIL
YLAFTDLEFKTEFIGGSTPEQIKLELTFRELIGSFQEEKGDPSIKFFHVSSGVDGDTTSS
DDFDWPRIVLKINPPAMHSILERIAAEEEEENDGHYQEEEEGGAHSLKDVCDLRRPAPSP
FSSRRVMFENEQMVMPGDPVEMTEFQDKAISNSHYVLELTLPNIYVTLPNKSFYEKLYNR
IFNDLLLWEPTAPSPVETFENISYGIGLSVASQLINTFNKDSFSAFKSAVHYDEESGSEE
ETLQYFSTVDPNYRSRRKKKLDSQNKNSQSFLSVLLNINHGLIAVFTDVKQDNGDLLENK
HGEFWLEFNSGSLFCVTKYEGFDDKHYICLHSSSFSLYHKGIVNGVILPTETRLPSSTRP
HWLEPTIYSSEEDGLSKTSSDGVGGDSLNMLSVAVKILSDKSESNTKEFLIAVGLKGATL
QHRMLPSGLSWHEQILYFLNIADEPVLGYNPPTSFTTFHVHLWSCALDYRPLYLPIRSLL
TVETFSVSSSVALDKSSSTLRIILDEAALHLSDKCNTVTINLSRDYVRVMDMGLLELTIT
AVKSDSDGEQTEPRFELHCSSDVVHIRTCSDSCAALMNLIQYIASYGDLQTPNKADMKPG
AFQRRSKVDSSGRSSSRGPVLPEADQQMLRDLMSDAMEEIDMQQGTSSVKPQANGVLDEK
SQIQEPCCSDLFLFPDESGNVSQESGPTYASFSHHFISDAMTGVPTENDDFCILFAPKAA
MQEKEEEPVIKIMVDDAIVIRDNYFSLPVNKTDTSKAPLHFPIPVIRYVVKEVSLVWHLY
GGKDFGIVPPTSPAKSYISPHSSPSHTPTRHGRNTVCGGKGRNHDFLMEIQLSKVKFQHE
VYPPCKPDCDSSLSEHPVSRQVFIVQDLEIRDRLATSQMNKFLYLYCSKEMPRKAHSNML
TVKALHVCPESGRSPQECCLRVSLMPLRLNIDQDALFFLKDFFTSLSAEVELQMTPDPEV
KKSPGADVTCSLPRHLSTSKEPNLVISFSGPKQPSQNDSANSVEVVNGMEEKNFSAEEAS
FRDQPVFFREFRFTSEVPIRLDYHGKHVSMDQGTLAGILIGLAQLNCSELKLKRLSYRHG
LLGVDKLFSYAITEWLNDIKKNQLPGILGGVGPMHSLVQLVQGLKDLVWLPIEQYRKDGR
IVRGFQRGAASFGTSTAMAALELTNRMVQTIQAAAETAYDMVSPGTLSIEPKKTKRFPHH
RLAHQPVDLREGVAKAYSVVKEGITDTAQTIYETAAREHESRGVTGAVGEVLRQIPPAVV
KPLIVATEATSNVLGGMRNQIRPDVRQDESQKWR
HGDD
Sequence length 2078
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Autophagy - other
Autophagy - animal
Alzheimer disease
Amyotrophic lateral sclerosis
Huntington disease
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
47
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs142585085 RCV005924661
ATG2B-related disorder Benign; Likely benign; Uncertain significance rs74719094, rs79662280, rs183527316, rs199569218, rs151219519, rs200385687, rs201880070, rs150217141, rs778335132, rs200823414, rs368514043, rs34296665, rs752898540, rs368533260, rs781638627
View all (15 more)
RCV003976006
RCV003976216
RCV003941155
RCV003948742
RCV003941163
RCV003956406
RCV003921658
RCV003919790
RCV003964658
RCV003979345
RCV003977075
RCV003909581
RCV003941817
RCV003944015
RCV003961700
RCV003951662
RCV003914430
RCV003937038
RCV003954669
RCV003927371
RCV003949187
RCV003954656
RCV003964320
RCV003947282
RCV003968921
RCV003913267
RCV003936127
RCV003928515
RCV003935874
RCV003936126
Cervical cancer Benign rs77294752, rs142585085 RCV005921553
RCV005924662
Familial cancer of breast Benign; Uncertain significance rs72704887, rs201736391 RCV005915781
RCV005929036
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 26474971
Carcinoma Ovarian Epithelial Associate 26747452
Chromosome Deletion Associate 32917334
Drug Related Side Effects and Adverse Reactions Associate 33077697
Genetic Diseases Inborn Associate 32917334
Glioblastoma Associate 35123435
Leukemia Myeloid Acute Associate 33077697
Neoplasms Inhibit 35029026
Neoplasms Associate 35123435
Osteitis Deformans Associate 26030385