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

Summary

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

Location:: 2q35

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (219206782..219209648)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (219691549..219694414)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (220071504..220074370)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Zinc finger proteins may be associated with pathophysiology of severe dry eye syndrome.
Title: Zinc finger protein in severe dry eye syndrome.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2S2921 (e-PCR)
- UniSTS:22036

RH18248 (e-PCR)
- UniSTS:29392

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)

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)
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
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_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

219206782..219209648

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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
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

NC_060926.1 Alternate T2T-CHM13v2.0

Range

219691549..219694414

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q8NB98, Q8WV99

UniProtKB/TrEMBL

E9PFU9
XM_054340576.1 → XP_054196551.1 AN1-type zinc finger protein 2B isoform X1
XM_054340575.1 → XP_054196550.1 AN1-type zinc finger protein 2B isoform X1