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GeneE
6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ZFAND2B
zinc finger AN1-type containing 2B
Chromosome 2 · 2q35
NCBI Gene: 130617Ensembl: ENSG00000158552.13HGNC: HGNC:25206UniProt: A0A087X0D9
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
SRP-dependent cotranslational protein targeting to membrane, translocationproteasome complexprotein bindingK48-linked polyubiquitin modification-dependent protein bindingrheumatic diseasetransient myeloproliferative syndromeneutrophil immunodeficiency syndromeessential thrombocythemia
✦AI Summary

ZFAND2B (also known as AIRAPL) is a zinc finger protein that plays a critical role in protein homeostasis at the endoplasmic reticulum (ER). Its primary function involves regulating the translocation and ubiquitin-mediated proteasomal degradation of nascent proteins. ZFAND2B forms a complex with p97/VCP and associated factors on the ER membrane to regulate signal-peptide-dependent translocation of secreted proteins 1. When translocation fails, ZFAND2B participates in preemptive quality control (pQC), directing mislocalized proteins bearing signal sequences toward proteasomal degradation via the p97-ZFAND2B complex 2. A key regulatory function involves controlling steady-state IGF1R receptor levels at the ER; ZFAND2B promotes ubiquitination and proteasomal degradation of newly synthesized IGF1R, thereby suppressing insulin-like growth factor signaling 3. Disease relevance is substantial: ZFAND2B loss causes myeloproliferative neoplastic transformation in mice through IGF1R pathway dysregulation, and ZFAND2B expression is widely reduced in human myeloproliferative disorders 3. Additionally, ZFAND2B overexpression protects against amyloid-beta toxicity in Alzheimer's disease models, supporting its neuroprotective role 4. These findings establish ZFAND2B as a tumor suppressor and proteostasis regulator with therapeutic implications for hematologic malignancies and neurodegenerative diseases.

Sources cited
1
ZFAND2B (AIRAPL) forms a complex with p97 and other factors to regulate signal-peptide-dependent translocation of proteins into the ER
PMID: 24160817
2
ZFAND2B participates in preemptive quality control by mediating proteasomal degradation of mislocalized proteins through the p97-AIRAPL complex
PMID: 26337389
3
ZFAND2B promotes ubiquitination and degradation of IGF1R, acts as a tumor suppressor in myeloproliferative neoplasms, and is downregulated in human MPD
PMID: 26692333
4
ZFAND2B (AIRAPL) overexpression protects against amyloid-beta toxicity in C. elegans Alzheimer's disease models
PMID: 19414486
5
ZFAND2B acts as a tumor suppressor in myeloproliferative neoplasms through modulation of IGF receptor levels at the ER
PMID: 27090962
Disease Associationsⓘ20
rheumatic diseaseOpen Targets
0.07Suggestive
transient myeloproliferative syndromeOpen Targets
0.06Suggestive
neutrophil immunodeficiency syndromeOpen Targets
0.06Suggestive
essential thrombocythemiaOpen Targets
0.05Suggestive
primary myelofibrosisOpen Targets
0.05Suggestive
immunodeficiency 69Open Targets
0.05Suggestive
Autosomal recessive malignant osteopetrosisOpen Targets
0.05Suggestive
refractory anemia with ringed sideroblastsOpen Targets
0.05Suggestive
neutropenia, severe congenital, 1, autosomal dominantOpen Targets
0.05Suggestive
myelodysplastic syndrome associated with isolated del(5q)Open Targets
0.05Suggestive
monocytopenia with susceptibility to infectionsOpen Targets
0.05Suggestive
neutropenia, severe congenital, 2, autosomal dominantOpen Targets
0.04Suggestive
Beta-thalassemia - X-linked thrombocytopeniaOpen Targets
0.04Suggestive
beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets
0.04Suggestive
Congenital dyserythropoietic anemia type IOpen Targets
0.04Suggestive
congenital neutropenia-myelofibrosis-nephromegaly syndromeOpen Targets
0.04Suggestive
Recurrent infections-myelofibrosis-nephromegaly syndromeOpen Targets
0.04Suggestive
nonimmune chronic idiopathic neutropenia of adultsOpen Targets
0.04Suggestive
Neutropenia - monocytopenia - deafnessOpen Targets
0.04Suggestive
neutropenia-monocytopenia-deafness syndromeOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UBA52Protein interaction100%UBBProtein interaction100%UBCProtein interaction100%PSMC5Protein interaction98%PSMD6Protein interaction97%PSMC6Protein interaction96%
Tissue Expression6 tissues
Liver
100%
Lung
63%
Bone Marrow
50%
Ovary
49%
Heart
33%
Brain
22%
Gene Interaction Network
Click a node to explore
ZFAND2BUBA52UBBUBCPSMC5PSMD6PSMC6
PROTEIN STRUCTURE
Preparing viewer…
PDB1X4V · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.92LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.67 [0.49–0.92]
RankingsWhere ZFAND2B stands among ~20K protein-coding genes
  • #12,074of 20,598
    Most Researched30
  • #8,416of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedZFAND2B
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Signal-peptide-mediated translocation is regulated by a p97-AIRAPL complex.
PMID: 24160817
Biochem J · 2014
1.00
2
Proteostasis alterations in myeloproliferative neoplasms: Oncogenic relevance and therapeutic opportunities.
PMID: 27090962
Exp Hematol · 2016
0.83
3
Zinc finger protein in severe dry eye syndrome.
PMID: 24215362
Curr Eye Res · 2014
0.67
4
Loss of the proteostasis factor AIRAPL causes myeloid transformation by deregulating IGF-1 signaling.
PMID: 26692333
Nat Med · 2016
0.50
5
Proteasomal degradation of preemptive quality control (pQC) substrates is mediated by an AIRAPL-p97 complex.
PMID: 26337389
Mol Biol Cell · 2015
0.33