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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
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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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