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

Gene ID: 55102, updated on 17-Jun-2024

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; AllianceGenome:HGNC:20187
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
BLTP4B; 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
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Genomic context

See ATG2B in Genome Data Viewer
Location:
14q32.2
Exon count:
42
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (96279195..96363341, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (90510437..90594937, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (96745532..96829678, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene bradykinin receptor B2 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:96697669-96697864 Neighboring gene CDC28 protein kinase regulatory subunit 1B pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:96719533-96720042 Neighboring gene uncharacterized LOC124903375 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:96734992-96736191 Neighboring gene bradykinin receptor B1 Neighboring gene NANOG hESC enhancer GRCh37_chr14:96748657-96749197 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_38870 Neighboring gene uncharacterized LOC124903430 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8985 Neighboring gene Sharpr-MPRA regulatory region 11883 Neighboring gene GSK3B interacting protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6054 Neighboring gene RNA, U2 small nuclear 33, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr14:96878860-96878992 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ10242

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables lipid transfer activity IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphatidylinositol-3-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein-membrane adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
involved_in autophagosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in autophagy of mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in autophagy of peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in glycophagy IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in intermembrane lipid transfer IEA
Inferred from Electronic Annotation
more info
 
involved_in piecemeal microautophagy of the nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in reticulophagy IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
located_in lipid droplet IEA
Inferred from Electronic Annotation
more info
 
is_active_in phagophore IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in phagophore assembly site IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in 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
bridge-like lipid transfer protein family member 4B

NCBI Reference Sequences (RefSeq)

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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_051091.2 RefSeqGene

    Range
    5000..89146
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018036.7NP_060506.6  autophagy-related protein 2 homolog B

    Status: REVIEWED

    Source sequence(s)
    AL355102, AL359240
    Consensus CDS
    CCDS9944.2
    UniProtKB/Swiss-Prot
    Q6ZRE7, Q96BY7, Q96DQ3, Q9NW80
    Related
    ENSP00000353010.4, ENST00000359933.6
    Conserved Domains (4) summary
    pfam09333
    Location:19802074
    ATG_C; Autophagy-related protein C terminal domain
    pfam12624
    Location:11106
    Chorein_N; N-terminal region of Chorein or VPS13
    pfam13329
    Location:12451372
    ATG2_CAD; Autophagy-related protein 2 CAD motif
    cl25572
    Location:17234
    VPS13; Vacuolar sorting-associated protein 13, N-terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    96279195..96363341 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    90510437..90594937 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)