APOBEC2 apolipoprotein B mRNA editing enzyme catalytic subunit 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: APOBEC2provided by HGNC
Official Full Name: apolipoprotein B mRNA editing enzyme catalytic subunit 2provided by HGNC
Primary source: HGNC:HGNC:605
See related: Ensembl:ENSG00000124701 MIM:604797; AllianceGenome:HGNC:605
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ARP1; ARCD1
Summary: Enables cytidine deaminase activity and identical protein binding activity. Involved in positive regulation of gene expression via chromosomal CpG island demethylation. Acts upstream of or within cytidine to uridine editing. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in heart (RPKM 45.3), prostate (RPKM 9.9) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (41053202..41064891)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (40881766..40893448)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (41020941..41032630)

Chromosome 6 - NC_000006.12 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?

Expression and prognostic value of APOBEC2 in gastric adenocarcinoma and its association with tumor-infiltrating immune cells.
Title: Expression and prognostic value of APOBEC2 in gastric adenocarcinoma and its association with tumor-infiltrating immune cells.
Findings indicate that aberrant APOBEC2 expression causes nucleotide alterations in the transcripts of the specific target gene and could be involved in the development of human hepatocellular carcinoma through hepatic inflammation.
Title: Excessive activity of apolipoprotein B mRNA editing enzyme catalytic polypeptide 2 (APOBEC2) contributes to liver and lung tumorigenesis.
Studies indicate the APOBEC family consists of 11 members: APOBEC-1 (Apo1), APOBEC-2 (Apo2), activation induced cytidine deaminase (AID), APOBEC- 3A, -3B, -3C, -3DE, -3F, -3H (Apo3A-H) and APOBEC- 4 (Apo4).
Title: APOBEC deaminases-mutases with defensive roles for immunity.
The APOBEC2 was confirmed to be elevated in the tonsils with IgAN patients, and the gene expression level was negatively related with serum IgG level in overall patients.
Title: Microarray analysis of tonsils in immunoglobulin A nephropathy patients.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gender differences in genetic risk profiles for cardiovascular disease.
crystal structure of APOBEC2
Title: The APOBEC-2 crystal structure and functional implications for the deaminase AID.

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

APOBEC2_9198 (e-PCR)
- UniSTS:468286

RH103801 (e-PCR)
- UniSTS:98126

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables cytidine deaminase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cytidine deaminase activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cytidine to uridine editing	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cytidine to uridine editing	IDA Inferred from Direct Assay more info	PubMed
involved_in mRNA modification	IEA Inferred from Electronic Annotation more info
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gene expression via chromosomal CpG island demethylation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: C->U-editing enzyme APOBEC-2

Names: apolipoprotein B mRNA editing enzyme, catalytic polypeptide 2; apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2; mRNA(cytosine(6666)) deaminase 2; probable C->U-editing enzyme APOBEC-2

NP_006780.1

EC 3.5.4.36

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_006789.4 → NP_006780.1 C->U-editing enzyme APOBEC-2

See identical proteins and their annotated locations for NP_006780.1

Status: VALIDATED

Source sequence(s)

AF086496, AK313288, BC047767

Consensus CDS

CCDS4848.1

UniProtKB/Swiss-Prot

B2R899, Q53F28, Q5TGU5, Q5TGU6, Q9Y235

Related

ENSP00000244669.2, ENST00000244669.3

Conserved Domains (3) summary

pfam05240
Location:160 → 208

APOBEC_C; APOBEC-like C-terminal domain

pfam08210
Location:52 → 221

APOBEC_N; APOBEC-like N-terminal domain

cl00269
Location:61 → 151

cytidine_deaminase-like; Cytidine and deoxycytidylate deaminase zinc-binding region. The family contains cytidine deaminases, nucleoside deaminases, deoxycytidylate deaminases and riboflavin deaminases. Also included are the apoBec family of mRNA editing enzymes. All members ...