NABP2

Nucleic Acid Binding Protein 2

Gene Information Card

Symbol NABP2
Full Name Nucleic Acid Binding Protein 2
Gene Type protein-coding
Chromosomal Location 12q13.3
NCBI Gene ID 22909 ncbi.nlm.nih.gov/gene/22909
Ensembl ID ENSG00000135446
UniProt ID Q9BQ15
OMIM ID 611425
HGNC ID 23274
Aliases OBFC2A, hSSB2, SOSS-B2, SSB-like protein 2

Description

NABP2 encodes a nucleic acid binding protein that is a component of the SOSS (Sensor of Single-Strand DNA) complex. The protein binds single-stranded DNA and is involved in DNA damage response, homologous recombination repair, and maintenance of genomic stability. It interacts with other SOSS complex subunits and is recruited to sites of DNA double-strand breaks.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast cancer NABP2 overexpression may promote genomic instability and tumor progression ClinVar, COSMIC
Ovarian cancer Altered expression linked to DNA repair defects COSMIC
Fanconi anemia Potential role in FA pathway due to involvement in DNA repair OMIM

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Bone marrow 9.8 Medium
Lymph node 8.2 Medium
Brain 4.1 Low
Liver 3.5 Low
Cell Line Expression
Cell Line nTPM Notes
HeLa 15.2 Cervical cancer cell line
HEK293 11.0 Embryonic kidney cells
MCF7 9.5 Breast cancer cell line
K562 7.8 Leukemia cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.325C>T (p.Arg109Trp) Missense <0.1% Unknown functional impact
c.487G>A (p.Gly163Arg) Missense <0.1% Reported in COSMIC
c.1A>G (p.Met1Val) Start loss <0.1% Likely loss of function
Mutation functional classification

Loss of Function (LOF)

Start loss mutations (e.g., p.Met1Val) likely abolish protein expression.

Gain of Function (GOF)

Not well characterized; some missense variants may alter DNA binding.

Dominant Negative (DN)

No evidence currently available.

Gene Ontology (GO)

• single-stranded DNA binding • DNA repair
• double-strand break repair via homologous recombination • nucleus
• protein-containing complex

Pathways

• Homologous recombination
• DNA damage response
• SOSS complex pathway

Protein Summary

NABP2 (also known as OBFC2A) is a 207-amino acid protein containing an oligonucleotide/oligosaccharide-binding (OB) fold. It binds single-stranded DNA with high affinity and is part of the SOSS complex, which facilitates the recruitment of repair factors to DNA breaks. The protein is ubiquitously expressed with higher levels in testis and bone marrow.

Related Products

Product name Cat.No. Species Gene ID
NABP2 Knockout HEK293 Cell Line EDJ-KQ14360 Human 79035 Details Get a Quote
NABP2 Knockout A-549 Cell Line EDJ-KQ44489 Human 79035 Details Get a Quote
NABP2 Knockout HCT 116 Cell Line EDJ-KQ44490 Human 79035 Details Get a Quote
NABP2 Knockout HeLa Cell Line EDJ-KQ44491 Human 79035 Details Get a Quote
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