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ATG2B autophagy related 2B [ Homo sapiens (human) ]

Gene ID: 55102, updated on 7-Oct-2018

Summary

Official Symbol
ATG2Bprovided by HGNC
Official Full Name
autophagy related 2Bprovided by HGNC
Primary source
HGNC:HGNC:20187
See related
Ensembl:ENSG00000066739 MIM:616226; Vega:OTTHUMG00000149933
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C14orf103
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 2016]
Expression
Ubiquitous expression in testis (RPKM 8.1), skin (RPKM 7.0) and 25 other tissues See more
Orthologs

Genomic context

See ATG2B in Genome Data Viewer
Location:
14q32.2
Exon count:
44
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (96279202..96363401, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (96747595..96829678, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene bradykinin receptor B2 Neighboring gene CDC28 protein kinase regulatory subunit 1B pseudogene 1 Neighboring gene bradykinin receptor B1 Neighboring gene GSK3B interacting protein Neighboring gene RNA, U2 small nuclear 33, pseudogene Neighboring gene translation machinery-associated protein 7-like Neighboring gene adenylate kinase 7

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Autophagy - animal, organism-specific biosystem (from KEGG)
    Autophagy - animal, organism-specific biosystemAutophagy (or macroautophagy) is a cellular catabolic pathway involving in protein degradation, organelle turnover, and non-selective breakdown of cytoplasmic components, which is evolutionarily cons...
  • Autophagy - animal, conserved biosystem (from KEGG)
    Autophagy - animal, conserved biosystemAutophagy (or macroautophagy) is a cellular catabolic pathway involving in protein degradation, organelle turnover, and non-selective breakdown of cytoplasmic components, which is evolutionarily cons...
  • Autophagy - other, organism-specific biosystem (from KEGG)
    Autophagy - other, organism-specific biosystemAutophagy is a degradative pathway for the removal of cytoplasmic materials in eukaryotic cells, and is characterized by the formation of a double-membrane structure called the autophagosome, either ...
  • Autophagy - other, conserved biosystem (from KEGG)
    Autophagy - other, conserved biosystemAutophagy is a degradative pathway for the removal of cytoplasmic materials in eukaryotic cells, and is characterized by the formation of a double-membrane structure called the autophagosome, either ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10242

Gene Ontology Provided by GOA

Process Evidence Code Pubs
autophagosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
autophagy of mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
extrinsic component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid droplet IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
phagophore assembly site IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phagophore assembly site membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
autophagy-related protein 2 homolog B
Names
ATG2 autophagy related 2 homolog B

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051091.1 RefSeqGene

    Range
    5001..89200
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018036.6NP_060506.5  autophagy-related protein 2 homolog B

    Status: REVIEWED

    Source sequence(s)
    AK055200, AK128275, AL355102, AL359240, AW264403, BC015016, BC015851, BU101822, BU166120, BU167202
    Consensus CDS
    CCDS9944.2
    UniProtKB/Swiss-Prot
    Q96BY7
    Related
    ENSP00000353010.4, OTTHUMP00000195210, ENST00000359933.5, OTTHUMT00000314037
    Conserved Domains (3) summary
    pfam09333
    Location:19802074
    ATG_C; Autophagy-related protein C terminal domain
    pfam12624
    Location:11116
    Chorein_N; N-terminal region of Chorein or VPS13
    pfam13329
    Location:12401372
    ATG2_CAD; Autophagy-related protein 2 CAD motif

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    96279202..96363401 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720187.2XP_006720250.1  autophagy-related protein 2 homolog B isoform X1

    Conserved Domains (3) summary
    pfam09333
    Location:19792073
    ATG_C; Autophagy-related protein C terminal domain
    pfam12624
    Location:11116
    Chorein_N; N-terminal region of Chorein or VPS13
    pfam13329
    Location:12391371
    ATG2_CAD; Autophagy-related protein 2 CAD motif
  2. XM_017021397.2XP_016876886.1  autophagy-related protein 2 homolog B isoform X2

RNA

  1. XR_943482.2 RNA Sequence

  2. XR_001750399.1 RNA Sequence

  3. XR_001750398.1 RNA Sequence

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