Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55102
Gene name Gene Name - the full gene name approved by the HGNC.
Autophagy related 2B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATG2B
Synonyms (NCBI Gene) Gene synonyms aliases
BLTP4B, C14orf103
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.2
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IBA 21873635
GO:0000407 Component Phagophore assembly site IBA 21873635
GO:0000422 Process Autophagy of mitochondrion IBA 21873635
GO:0005654 Component Nucleoplasm IDA
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616226 20187 ENSG00000066739
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Myeloproliferative disorder Myeloproliferative disease rs267606708, rs77375493 26280900
Unknown
Disease term Disease name Evidence References Source
Dementia Dementia GWAS
Associations from Text Mining
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