WIPI2
WD repeat domain phosphoinositide-interacting protein 2
Also known as: ATG18B, ATG21, CGI-50, DKFZP434J154, DKFZp686P02188, FLJ12979, FLJ14217, FLJ42984, WIPI2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y4P8
- Gene
- WIPI2
- Ensembl
- ENSG00000157954
- Chromosome
- 7
- Canonical length
- 454 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
454 residues, UniProt reviewed canonical sequence.
>Q9Y4P8|WIPI2
1 MNLASQSGEA GAGQLLFANF NQDNTEVKGA SRAAGLGRRA VVWSLAVGSK SGYKFFSLSS
61 VDKLEQIYEC TDTEDVCIVE RLFSSSLVAI VSLKAPRKLK VCHFKKGTEI CNYSYSNTIL
121 AVKLNRQRLI VCLEESLYIH NIRDMKVLHT IRETPPNPAG LCALSINNDN CYLAYPGSAT
181 IGEVQVFDTI NLRAANMIPA HDSPLAALAF DASGTKLATA SEKGTVIRVF SIPEGQKLFE
241 FRRGVKRCVS ICSLAFSMDG MFLSASSNTE TVHIFKLETV KEKPPEEPTT WTGYFGKVLM
301 ASTSYLPSQV TEMFNQGRAF ATVRLPFCGH KNICSLATIQ KIPRLLVGAA DGYLYMYNLD
361 PQEGGECALM KQHRLDGSLE TTNEILDSAS HDCPLVTQTY GAAAGKGTYV PSSPTRLAYT
421 DDLGAVGGAC LEDEASALRL DEDSEHPPMI LRTDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against WIPI2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.35
- Highest tissue expression
- 51 nTPM
Expression across tissuesHPA
Tissue
- testis: 51 nTPM
- choroid plexus: 51 nTPM
- skin: 45 nTPM
- bone marrow: 44 nTPM
- cerebral cortex: 44 nTPM
- tongue: 42 nTPM
Single-cell type
- late spermatids: 302 nCPM
- late primary spermatocytes: 286 nCPM
- esophageal apical cells: 255 nCPM
- early primary spermatocytes: 205 nCPM
- early spermatids: 188 nCPM
- syncytiotrophoblasts: 181 nCPM
Immune cell
- eosinophil: 14 nTPM
- neutrophil: 9.1 nTPM
- T-reg: 9 nTPM
- memory CD8 T-cell: 8 nTPM
- naive CD4 T-cell: 7.5 nTPM
- plasmacytoid DC: 6.4 nTPM
Brain region
- cerebral cortex: 64 nTPM
- basal ganglia: 59 nTPM
- midbrain: 59 nTPM
- white matter: 58 nTPM
- pons: 57 nTPM
- hippocampal formation: 56 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about WIPI2.
Disease | AllUniProt
Conditions WIPI2 is implicated in, by any mechanism.
- Intellectual developmental disorder with short stature and variable skeletal anomalies (IDDSSA) MIM:618453
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 109 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Intellectual developmental disorder with short stature and variable skeletal anomalies
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.62
- gnomAD pLI
- 0.01
- gnomAD missense Z
- 1.66
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 14% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- autophagosome assembly
- autophagy of mitochondrion
- cellular response to starvation
- glycophagy
- nucleophagy
- pexophagy
- protein localization to phagophore assembly site
Molecular functions
- phosphatidylinositol-3,5-bisphosphate binding
- phosphatidylinositol-3-phosphate binding
- phosphatidylinositol-5-phosphate binding
- protein-macromolecule adaptor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of WIPI2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads WIPI2 as an antibody target. Whether an autoantibody or antibody against WIPI2 could matter depends on whether native WIPI2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
WIPI2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label WIPI2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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