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    ZFAND2B zinc finger AN1-type containing 2B [ Homo sapiens (human) ]

    Gene ID: 130617, updated on 3-Apr-2024

    Summary

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    Official Symbol
    ZFAND2Bprovided by HGNC
    Official Full Name
    zinc finger AN1-type containing 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:25206
    See related
    Ensembl:ENSG00000158552 MIM:613474; AllianceGenome:HGNC:25206
    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
    AIRAPL
    Summary
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 23.0), duodenum (RPKM 18.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2q35
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219206782..219209648)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219691549..219694414)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220071504..220074370)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 9830 Neighboring gene cyclin Pas1/PHO80 domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12343 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:220042692-220043192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12346 Neighboring gene reticulophagy regulator family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12347 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220072463-220072962 Neighboring gene ATP binding cassette subfamily B member 6 (LAN blood group) Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:220082897-220083764 Neighboring gene autophagy related 9A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220093298-220093846 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220093847-220094394

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Zinc finger protein in severe dry eye syndrome. Lee SH, et al. Curr Eye Res, 2014 May. PMID 24215362
    2. AIP-1 ameliorates beta-amyloid peptide toxicity in a Caenorhabditis elegans Alzheimer's disease model. Hassan WM, et al. Hum Mol Genet, 2009 Aug 1. PMID 19414486, Free PMC Article
    3. Selective Binding of AIRAPL Tandem UIMs to Lys48-Linked Tri-Ubiquitin Chains. Rahighi S, et al. Structure, 2016 Mar 1. PMID 26876100, Free PMC Article
    4. Proteasomal degradation of preemptive quality control (pQC) substrates is mediated by an AIRAPL-p97 complex. Braunstein I, et al. Mol Biol Cell, 2015 Nov 1. PMID 26337389, Free PMC Article
    5. Signal-peptide-mediated translocation is regulated by a p97-AIRAPL complex. Glinka T, et al. Biochem J, 2014 Jan 15. PMID 24160817

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Results demonstrate that on specific translocation inhibition, a p97-AIRAPL complex directly binds and regulates the efficient processing of polyubiquitinated pQC substrates by the UPS. Results also demonstrate p97's role in pQC processing of preproinsulin in cases of naturally occurring mutations within the signal sequence of insulin.
      Title: Proteasomal degradation of preemptive quality control (pQC) substrates is mediated by an AIRAPL-p97 complex.
    2. Consistent with its proposed role as a tumor suppressor of myeloid transformation, AIRAPL expression is widely abrogated in human myeloproliferative disorders.
      Title: Loss of the proteostasis factor AIRAPL causes myeloid transformation by deregulating IGF-1 signaling.
    3. Zinc finger proteins may be associated with pathophysiology of severe dry eye syndrome.
      Title: Zinc finger protein in severe dry eye syndrome.
    4. AIRAPL binds to p97 and forms a complex in the endoplasmic reticulum membrane.
      Title: Signal-peptide-mediated translocation is regulated by a p97-AIRAPL complex.
    5. An AIP-1 human homologue, ZFAND2B, has a similar protective effect against Abeta toxicity.
      Title: AIP-1 ameliorates beta-amyloid peptide toxicity in a Caenorhabditis elegans Alzheimer's disease model.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables K48-linked polyubiquitin modification-dependent protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within SRP-dependent cotranslational protein targeting to membrane, translocation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein targeting to ER IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein targeting to ER IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of insulin-like growth factor receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of proteasome complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    AN1-type zinc finger protein 2B
    Names
    AIRAP-like protein
    arsenite-inducible RNA-associated protein-like protein
    zinc finger, AN1-type domain 2B

    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.

    mRNA and Protein(s)

    1. NM_001270998.2 → NP_001257927.1  AN1-type zinc finger protein 2B isoform 1

      See identical proteins and their annotated locations for NP_001257927.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AC068946, BC018415, BM852092, BU195818
      Consensus CDS
      CCDS2435.1
      UniProtKB/Swiss-Prot
      Q8NB98, Q8WV99
      UniProtKB/TrEMBL
      E9PFU9
      Related
      ENSP00000411334.3, ENST00000444522.6
      Conserved Domains (3) summary
      pfam01428
      Location:100 → 136
      zf-AN1; AN1-like Zinc finger
      pfam02809
      Location:197 → 212
      UIM; Ubiquitin interaction motif
      pfam06012
      Location:139 → 244
      DUF908; Domain of Unknown Function (DUF908)

    2. NM_001270999.2 → NP_001257928.1  AN1-type zinc finger protein 2B isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC068946, BC018415, BE742808, BM852092
      Consensus CDS
      CCDS74656.1
      UniProtKB/TrEMBL
      A0A087X0D9
      Related
      ENSP00000483320.1, ENST00000621130.4
      Conserved Domains (2) summary
      pfam01428
      Location:56 → 92
      zf-AN1; AN1-like Zinc finger
      pfam02809
      Location:153 → 168
      UIM; Ubiquitin interaction motif

    3. NM_138802.3 → NP_620157.1  AN1-type zinc finger protein 2B isoform 1

      See identical proteins and their annotated locations for NP_620157.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AC068946, BC018415, BM852092
      Consensus CDS
      CCDS2435.1
      UniProtKB/Swiss-Prot
      Q8NB98, Q8WV99
      UniProtKB/TrEMBL
      E9PFU9
      Related
      ENSP00000289528.5, ENST00000289528.10
      Conserved Domains (3) summary
      pfam01428
      Location:100 → 136
      zf-AN1; AN1-like Zinc finger
      pfam02809
      Location:197 → 212
      UIM; Ubiquitin interaction motif
      pfam06012
      Location:139 → 244
      DUF908; Domain of Unknown Function (DUF908)

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      219206782..219209648
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003368.2 → XP_016858857.1  AN1-type zinc finger protein 2B isoform X2

      UniProtKB/Swiss-Prot
      Q8NB98, Q8WV99
      UniProtKB/TrEMBL
      E9PFU9
      Related
      ENSP00000386898.1, ENST00000409336.5
      Conserved Domains (3) summary
      pfam01428
      Location:100 → 136
      zf-AN1; AN1-like Zinc finger
      pfam02809
      Location:197 → 212
      UIM; Ubiquitin interaction motif
      pfam06012
      Location:139 → 244
      DUF908; Domain of Unknown Function (DUF908)

    2. XM_006712286.4 → XP_006712349.1  AN1-type zinc finger protein 2B isoform X1

      See identical proteins and their annotated locations for XP_006712349.1

      Conserved Domains (2) summary
      pfam01428
      Location:100 → 136
      zf-AN1; AN1-like Zinc finger
      pfam02809
      Location:197 → 212
      UIM; Ubiquitin interaction motif

    3. XM_006712285.2 → XP_006712348.1  AN1-type zinc finger protein 2B isoform X1

      See identical proteins and their annotated locations for XP_006712348.1

      Conserved Domains (2) summary
      pfam01428
      Location:100 → 136
      zf-AN1; AN1-like Zinc finger
      pfam02809
      Location:197 → 212
      UIM; Ubiquitin interaction motif

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      219691549..219694414
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340577.1 → XP_054196552.1  AN1-type zinc finger protein 2B isoform X2

      UniProtKB/Swiss-Prot
      Q8NB98, Q8WV99

    2. XM_054340576.1 → XP_054196551.1  AN1-type zinc finger protein 2B isoform X1

    3. XM_054340575.1 → XP_054196550.1  AN1-type zinc finger protein 2B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WV99.1 GenPept UniProtKB/Swiss-Prot:Q8WV99

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