This gene encodes a protein containing AN1-type zinc-fingers and ubiquitin-interacting motifs. The encoded protein likely associates with the proteosome to stimulate the degradation of toxic or misfolded proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012] See more...

Aliases for ZFAND2B Gene

Aliases for ZFAND2B Gene

  • Zinc Finger AN1-Type Containing 2B 2 3 5
  • AIRAPL 2 3 4
  • Arsenite-Inducible RNA-Associated Protein-Like Protein 3 4
  • Zinc Finger, AN1-Type Domain 2B 2 3
  • AN1-Type Zinc Finger Protein 2B 3 4
  • AIRAP-Like Protein 3 4
  • Arsenite Inducible RNA Associated Protein-Like 2
  • Zinc Finger, AN1-Type 2B 2
  • ZFAND2B 5

External Ids for ZFAND2B Gene

Previous GeneCards Identifiers for ZFAND2B Gene

  • GC02P219898
  • GC02P219780
  • GC02P220059
  • GC02P211924

Summaries for ZFAND2B Gene

Entrez Gene Summary for ZFAND2B Gene

  • This gene encodes a protein containing AN1-type zinc-fingers and ubiquitin-interacting motifs. The encoded protein likely associates with the proteosome to stimulate the degradation of toxic or misfolded proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]

GeneCards Summary for ZFAND2B Gene

ZFAND2B (Zinc Finger AN1-Type Containing 2B) is a Protein Coding gene. Diseases associated with ZFAND2B include Charcot-Marie-Tooth Disease, Axonal, Type 2E. An important paralog of this gene is ZFAND2A.

UniProtKB/Swiss-Prot Summary for ZFAND2B Gene

  • Plays a role in protein homeostasis by regulating both the translocation and the ubiquitin-mediated proteasomal degradation of nascent proteins at the endoplasmic reticulum. It is involved in the regulation of signal-mediated translocation of proteins into the endoplasmic reticulum. It also plays a role in the ubiquitin-mediated proteasomal degradation of proteins for which signal-mediated translocation to the endoplasmic reticulum has failed. May therefore function in the endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation (By similarity). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZFAND2B Gene

Genomics for ZFAND2B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZFAND2B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZFAND2B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZFAND2B

Top Transcription factor binding sites by QIAGEN in the ZFAND2B gene promoter:
  • AP-1
  • AREB6
  • ATF-2
  • c-Fos
  • c-Jun
  • GR-beta
  • NF-kappaB
  • NF-kappaB1

Genomic Locations for ZFAND2B Gene

Latest Assembly
chr2:219,195,237-219,209,651
(GRCh38/hg38)
Size:
14,415 bases
Orientation:
Plus strand

Previous Assembly
chr2:220,071,504-220,074,370
(GRCh37/hg19 by Entrez Gene)
Size:
2,867 bases
Orientation:
Plus strand

chr2:220,059,959-220,074,373
(GRCh37/hg19 by Ensembl)
Size:
14,415 bases
Orientation:
Plus strand

Genomic View for ZFAND2B Gene

Genes around ZFAND2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZFAND2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZFAND2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZFAND2B Gene

Proteins for ZFAND2B Gene

  • Protein details for ZFAND2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WV99-ZFN2B_HUMAN
    Recommended name:
    AN1-type zinc finger protein 2B
    Protein Accession:
    Q8WV99
    Secondary Accessions:
    • Q8NB98

    Protein attributes for ZFAND2B Gene

    Size:
    257 amino acids
    Molecular mass:
    28023 Da
    Quaternary structure:
    • Binds 'Lys-48'-linked polyubiquitin chains of ubiquitinated proteins (PubMed:24160817). Associates with the proteasome complex; upon exposure to arsenite (By similarity). Interacts (via VIM motif) with VCP; the interaction is direct (PubMed:21896481, PubMed:24160817, PubMed:26337389). Interacts with BAG6 (PubMed:24160817, PubMed:26337389). Interacts with IGF1R (nascent precursor form) (PubMed:26692333). Interacts with DERL1, FAF2, NPLOC4 and UFD1; probably through VCP (PubMed:24160817).

    Three dimensional structures from OCA and Proteopedia for ZFAND2B Gene

    Alternative splice isoforms for ZFAND2B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZFAND2B Gene

Post-translational modifications for ZFAND2B Gene

  • Phosphorylated by MAPK14. Phosphorylation has no effect on association with the proteasome complex.
  • Ubiquitination at Lys99, Lys125, Lys214, and Lys250
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ZFAND2B Gene

Domains & Families for ZFAND2B Gene

Gene Families for ZFAND2B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ZFAND2B Gene

InterPro:
Blocks:
  • Zn-finger, AN1-like

Suggested Antigen Peptide Sequences for ZFAND2B Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ90090 fis, clone HEMBA1005430, highly similar to AN1-type zinc finger protein 2B (B3KQB0_HUMAN)
  • cDNA FLJ60439, highly similar to AN1-type zinc finger protein 2B (B4DEN4_HUMAN)
  • Arsenite-inducible RNA-associated protein-like protein (ZFN2B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WV99

UniProtKB/Swiss-Prot:

ZFN2B_HUMAN :
  • The UIM domains specifically bind 'Lys-48'-linked ubiquitin polymers. The UIM domains mediate interaction with polyubiquitinated proteins.
Domain:
  • The UIM domains specifically bind 'Lys-48'-linked ubiquitin polymers. The UIM domains mediate interaction with polyubiquitinated proteins.
genes like me logo Genes that share domains with ZFAND2B: view

Function for ZFAND2B Gene

Molecular function for ZFAND2B Gene

UniProtKB/Swiss-Prot Function:
Plays a role in protein homeostasis by regulating both the translocation and the ubiquitin-mediated proteasomal degradation of nascent proteins at the endoplasmic reticulum. It is involved in the regulation of signal-mediated translocation of proteins into the endoplasmic reticulum. It also plays a role in the ubiquitin-mediated proteasomal degradation of proteins for which signal-mediated translocation to the endoplasmic reticulum has failed. May therefore function in the endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation (By similarity). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333).
UniProtKB/Swiss-Prot Induction:
Down-regulated by the miRNA miR-125a-3p in myelo-proliferative neoplasms.

Phenotypes From GWAS Catalog for ZFAND2B Gene

Gene Ontology (GO) - Molecular Function for ZFAND2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0008270 zinc ion binding IEA --
GO:0031593 polyubiquitin modification-dependent protein binding IEA --
GO:0036435 K48-linked polyubiquitin modification-dependent protein binding IDA 26876100
GO:0043130 ubiquitin binding IEA --
genes like me logo Genes that share ontologies with ZFAND2B: view
genes like me logo Genes that share phenotypes with ZFAND2B: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZFAND2B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZFAND2B Gene

Localization for ZFAND2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZFAND2B Gene

Endoplasmic reticulum membrane. Lipid-anchor.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZFAND2B gene
Compartment Confidence
endoplasmic reticulum 4
nucleus 3
cytosol 3
endosome 1
lysosome 1
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
  • Nucleoli rim (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ZFAND2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 colocalizes_with proteasome complex IDA 26876100
GO:0005783 endoplasmic reticulum ISS --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0031225 anchored component of membrane ISS --
genes like me logo Genes that share ontologies with ZFAND2B: view

Pathways & Interactions for ZFAND2B Gene

PathCards logo

SuperPathways for ZFAND2B Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZFAND2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006616 SRP-dependent cotranslational protein targeting to membrane, translocation IMP 24160817
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IMP 26692333
GO:0043567 regulation of insulin-like growth factor receptor signaling pathway ISS --
GO:0045047 protein targeting to ER IMP 26692333
genes like me logo Genes that share ontologies with ZFAND2B: view

No data available for Pathways by source and SIGNOR curated interactions for ZFAND2B Gene

Drugs & Compounds for ZFAND2B Gene

No Compound Related Data Available

Transcripts for ZFAND2B Gene

mRNA/cDNA for ZFAND2B Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZFAND2B

Alternative Splicing Database (ASD) splice patterns (SP) for ZFAND2B Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10
SP1: - - - - -
SP2: - - -
SP3: - -
SP4: - - - -
SP5: - - - - - - - -
SP6: - - -
SP7: -
SP8: - - - -
SP9: -

Relevant External Links for ZFAND2B Gene

GeneLoc Exon Structure for
ZFAND2B

Expression for ZFAND2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZFAND2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ZFAND2B Gene

This gene is overexpressed in Peripheral blood mononuclear cells (20.9), Platelet (15.4), Retina (12.8), and Pancreas (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZFAND2B Gene



Protein tissue co-expression partners for ZFAND2B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZFAND2B

SOURCE GeneReport for Unigene cluster for ZFAND2B Gene:

Hs.534540

Evidence on tissue expression from TISSUES for ZFAND2B Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with ZFAND2B: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZFAND2B Gene

Orthologs for ZFAND2B Gene

This gene was present in the common ancestor of animals.

Orthologs for ZFAND2B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZFAND2B 29 30
  • 99.44 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ZFAND2B 29 30
  • 90.82 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ZFAND2B 29 30
  • 90.4 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Zfand2b 29 16 30
  • 89.11 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Zfand2b 29
  • 89.11 (n)
Oppossum
(Monodelphis domestica)
Mammalia ZFAND2B 30
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ZFAND2B 30
  • 56 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ZFAND2B 30
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100487091 29
  • 61.72 (n)
Str.9255 29
Zebrafish
(Danio rerio)
Actinopterygii zfand2a 29 30
  • 60.26 (n)
OneToMany
zgc66295 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG12795 29 30
  • 51.85 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002339 29
  • 51.05 (n)
Worm
(Caenorhabditis elegans)
Secernentea aip-1 29 30
  • 45.78 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5587 30
  • 41 (a)
OneToMany
Species where no ortholog for ZFAND2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ZFAND2B Gene

ENSEMBL:
Gene Tree for ZFAND2B (if available)
TreeFam:
Gene Tree for ZFAND2B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZFAND2B: view image
Alliance of Genome Resources:
Additional Orthologs for ZFAND2B

Paralogs for ZFAND2B Gene

Paralogs for ZFAND2B Gene

(2) SIMAP similar genes for ZFAND2B Gene using alignment to 9 proteins:

  • ZFN2B_HUMAN
  • B3KQB0_HUMAN
  • B4DEN4_HUMAN
  • B8ZZ56_HUMAN
  • C9J1R6_HUMAN
  • E7EV05_HUMAN
  • E9PFU9_HUMAN
  • F8WEE4_HUMAN
  • H7C491_HUMAN
genes like me logo Genes that share paralogs with ZFAND2B: view

Variants for ZFAND2B Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ZFAND2B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ZFAND2B Gene

Variant ID Type Subtype PubMed ID
esv1000230 CNV deletion 20482838
esv3893555 CNV loss 25118596

Variation tolerance for ZFAND2B Gene

Residual Variation Intolerance Score: 36.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.62; 45.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZFAND2B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZFAND2B
Leiden Open Variation Database (LOVD)
ZFAND2B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZFAND2B Gene

Disorders for ZFAND2B Gene

MalaCards: The human disease database

(1) MalaCards diseases for ZFAND2B Gene - From: COP

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, axonal, type 2e
  • cmt2e
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ZFAND2B

genes like me logo Genes that share disorders with ZFAND2B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZFAND2B Gene

Publications for ZFAND2B Gene

  1. Loss of the proteostasis factor AIRAPL causes myeloid transformation by deregulating IGF-1 signaling. (PMID: 26692333) Osorio FG … López-Otín C (Nature medicine 2016) 3 4
  2. Proteasomal degradation of preemptive quality control (pQC) substrates is mediated by an AIRAPL-p97 complex. (PMID: 26337389) Braunstein I … Stanhill A (Molecular biology of the cell 2015) 3 4
  3. Signal-peptide-mediated translocation is regulated by a p97-AIRAPL complex. (PMID: 24160817) Glinka T … Stanhill A (The Biochemical journal 2014) 3 4
  4. Proteasomal adaptation to environmental stress links resistance to proteotoxicity with longevity in Caenorhabditis elegans. (PMID: 18467495) Yun C … Ron D (Proceedings of the National Academy of Sciences of the United States of America 2008) 2 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for ZFAND2B Gene

Sources for ZFAND2B Gene