ZFAND2A Gene - Zinc Finger AN1-Type Containing 2A

Comprehensive genomic and functional annotation of ZFAND2A, a stress-responsive zinc finger protein gene.

Gene Information Card

Symbol ZFAND2A
Full Name Zinc Finger AN1-Type Containing 2A
Gene Type Protein coding
Chromosomal Location 7p22.3
NCBI Gene ID 118426 ncbi.nlm.nih.gov/gene/118426
Ensembl ID ENSG00000106031
UniProt ID Q8N9N8
OMIM ID 618539
HGNC ID 28073
Aliases AIRAP, C7orf28, FLJ14281

Description

ZFAND2A (Zinc Finger AN1-Type Containing 2A) is a protein-coding gene located on chromosome 7p22.3. It encodes a stress-responsive protein that contains an AN1-type zinc finger domain. ZFAND2A is induced by arsenite and other proteotoxic stresses, and it functions in the ubiquitin-proteasome system to facilitate the degradation of misfolded proteins. The gene is also known as AIRAP (Arsenite-Inducible RNA-Associated Protein).

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Proteotoxic stress-related conditions ZFAND2A is induced under stress to enhance proteasomal degradation of misfolded proteins, potentially mitigating cellular damage. PubMed, UniProt

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 8.2 Medium
Thyroid 6.5 Medium
Adrenal gland 5.1 Low
Bone marrow 4.8 Low
Lymph node 4.3 Low
Cell Line Expression
Cell Line nTPM Notes
HEK 293 10.1 Moderate expression
HeLa 7.3 Moderate expression
K562 5.6 Low expression
HepG2 4.9 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) Missense <0.01% Likely loss of start codon; predicted loss of function
c.100C>T (p.Arg34Trp) Missense <0.01% Unknown functional effect
Mutation functional classification

Loss of Function (LOF)

Loss-of-function mutations in ZFAND2A are predicted to impair stress-induced proteasomal degradation, potentially increasing cellular sensitivity to proteotoxic stress.

Gain of Function (GOF)

No gain-of-function mutations have been reported.

Dominant Negative (DN)

No dominant-negative mutations have been described.

Gene Ontology (GO)

zinc ion binding (GO:0008270) polyubiquitin modification-dependent protein binding (GO:0031593)
• unfolded protein binding (GO:0051082) • ubiquitin-dependent ERAD pathway (GO:0030433)
cytosol (GO:0005829) nucleus (GO:0005634)

Pathways

Proteasome-mediated ubiquitin-dependent protein catabolic process
Cellular response to arsenite ion
Endoplasmic reticulum-associated degradation (ERAD) pathway

Protein Summary

ZFAND2A (AIRAP) is a 207-amino acid protein containing an AN1-type zinc finger domain. It is localized to the cytosol and nucleus. Under stress conditions such as arsenite exposure, ZFAND2A is upregulated and interacts with the 19S regulatory particle of the proteasome to enhance degradation of ubiquitinated substrates. It plays a role in the cellular response to misfolded proteins and proteotoxic stress.

Related Products

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ZFAND2A Knockout HEK293 Cell Line EDJ-KQ10623 Human 90637 Details Get a Quote
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ZFAND2A Knockout HeLa Cell Line EDJ-KQ38119 Human 90637 Details Get a Quote
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