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WIPI2 WD repeat domain, phosphoinositide interacting 2 [ Homo sapiens (human) ]

Gene ID: 26100, updated on 15-Jun-2019

Summary

Official Symbol
WIPI2provided by HGNC
Official Full Name
WD repeat domain, phosphoinositide interacting 2provided by HGNC
Primary source
HGNC:HGNC:32225
See related
Ensembl:ENSG00000157954 MIM:609225
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Atg21; ATG18B; CGI-50; IDDSSA; WIPI-2
Summary
WD40 repeat proteins are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins, such as WIPI2, have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids (Proikas-Cezanne et al., 2004 [PubMed 15602573]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in testis (RPKM 20.8), brain (RPKM 12.7) and 25 other tissues See more
Orthologs

Genomic context

See WIPI2 in Genome Data Viewer
Location:
7p22.1
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (5190204..5233855)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (5229835..5273486)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene zinc finger protein 890, pseudogene Neighboring gene RNA, U6 small nuclear 215, pseudogene Neighboring gene solute carrier family 29 member 4 Neighboring gene trinucleotide repeat containing 18

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 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 ...
  • Cellular responses to stress, organism-specific biosystem (from REACTOME)
    Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
  • Macroautophagy, organism-specific biosystem (from REACTOME)
    Macroautophagy, organism-specific biosystemMacroautophagy (hereafter referred to as autophagy) acts as a buffer against starvation by liberating building materials and energy sources from cellular components. It has additional roles in embryo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12979, FLJ14217, FLJ42984, DKFZp434J154, DKFZp686P02188

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol-3,5-bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol-3,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-3-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol-3-phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
autophagosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
autophagosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT autophagosome maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
autophagy of mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to starvation IDA
Inferred from Direct Assay
more info
PubMed 
macroautophagy TAS
Traceable Author Statement
more info
 
protein lipidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein lipidation involved in autophagosome assembly IEA
Inferred from Electronic Annotation
more info
 
protein localization to phagophore assembly site IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to phagophore assembly site IMP
Inferred from Mutant Phenotype
more info
PubMed 
xenophagy IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
NOT colocalizes_with autophagosome IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extrinsic component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
phagophore assembly site IDA
Inferred from Direct Assay
more info
PubMed 
phagophore assembly site membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phagophore assembly site membrane IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
WD repeat domain phosphoinositide-interacting protein 2
Names
WD40 repeat protein interacting with phosphoinositides 2
WIPI49-like protein 2

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.

mRNA and Protein(s)

  1. NM_001033518.2NP_001028690.1  WD repeat domain phosphoinositide-interacting protein 2 isoform c

    See identical proteins and their annotated locations for NP_001028690.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice junction in a 3' exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC093376, AL080155
    Consensus CDS
    CCDS47531.1
    UniProtKB/Swiss-Prot
    Q9Y4P8
    Related
    ENSP00000385297.3, ENST00000404704.7
    Conserved Domains (3) summary
    COG2319
    Location:37290
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:161200
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:184363
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  2. NM_001033519.2NP_001028691.1  WD repeat domain phosphoinositide-interacting protein 2 isoform d

    See identical proteins and their annotated locations for NP_001028691.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame 5' exon and uses an alternate in-frame splice junction in a 3' exon compared to variant 1. The resulting isoform (d) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC093376, AL080155
    Consensus CDS
    CCDS47532.1
    UniProtKB/Swiss-Prot
    Q9Y4P8
    Related
    ENSP00000371821.2, ENST00000382384.6
    Conserved Domains (2) summary
    COG2319
    Location:21272
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:143182
    7WD40; WD40 repeat [structural motif]
  3. NM_001033520.1NP_001028692.1  WD repeat domain phosphoinositide-interacting protein 2 isoform e

    See identical proteins and their annotated locations for NP_001028692.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice junction in a 3' exon compared to variant 1. The resulting isoform (e) has a shorter and distinct N-terminus and lacks an alternate internal segment compared to isoform a.
    Source sequence(s)
    AC093376, AY691426, BC016912
    Consensus CDS
    CCDS47533.1
    UniProtKB/Swiss-Prot
    Q9Y4P8
    Related
    ENSP00000429654.1, ENST00000484262.1
    Conserved Domains (3) summary
    COG2319
    Location:9231
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:102141
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:125304
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  4. NM_001278299.2NP_001265228.1  WD repeat domain phosphoinositide-interacting protein 2 isoform f

    See identical proteins and their annotated locations for NP_001265228.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) uses an alternate splice junction in a 5' exon compared to variant 1. This difference causes translation initiation at a downstream AUG and results in an isoform (f) with a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AC093376, AI074985, AK315468, AL080155
    UniProtKB/Swiss-Prot
    Q9Y4P8
    Conserved Domains (3) summary
    COG2319
    Location:2216
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1756
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:40219
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  5. NM_015610.4NP_056425.1  WD repeat domain phosphoinositide-interacting protein 2 isoform a

    See identical proteins and their annotated locations for NP_056425.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC093376, AL080155
    Consensus CDS
    CCDS5339.1
    UniProtKB/Swiss-Prot
    Q9Y4P8
    UniProtKB/TrEMBL
    A0A024R823
    Related
    ENSP00000288828.4, ENST00000288828.9
    Conserved Domains (3) summary
    COG2319
    Location:37290
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:161200
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:184363
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  6. NM_016003.4NP_057087.2  WD repeat domain phosphoinositide-interacting protein 2 isoform b

    See identical proteins and their annotated locations for NP_057087.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame 5' exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC093376, AK024279
    Consensus CDS
    CCDS34593.1
    UniProtKB/Swiss-Prot
    Q9Y4P8
    Related
    ENSP00000384945.3, ENST00000401525.7
    Conserved Domains (2) summary
    COG2319
    Location:21272
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:143182
    7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    5190233..5233855
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715685.1XP_006715748.1  WD repeat domain phosphoinositide-interacting protein 2 isoform X1

    See identical proteins and their annotated locations for XP_006715748.1

    Conserved Domains (3) summary
    COG2319
    Location:2216
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1756
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:40219
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  2. XM_017011952.1XP_016867441.1  WD repeat domain phosphoinositide-interacting protein 2 isoform X2

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