APOBEC2

Summary

APOBEC2 (apolipoprotein B mRNA editing enzyme catalytic subunit 2, HGNC:605) is a protein-coding gene on chromosome 6p21.1, encoding C->U-editing enzyme APOBEC-2 (Q9Y235). Probable C to U editing enzyme whose physiological substrate is not yet known.

Enables cytidine deaminase activity. Involved in positive regulation of gene expression via chromosomal CpG island demethylation. Acts upstream of or within cytidine to uridine editing. Located in nucleoplasm.

Source: NCBI Gene 10930 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• Clinical variants (ClinVar): 36 total
• GTEx eGene: eQTL in 15 tissues, sQTL in 1 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.08 (unconstrained)
• MANE Select transcript: NM_006789

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:605
Approved symbol	APOBEC2
Name	apolipoprotein B mRNA editing enzyme catalytic subunit 2
Location	6p21.1
Locus type	gene with protein product
Status	Approved
Aliases	ARCD1, ARP1
Ensembl gene	ENSG00000124701
Ensembl biotype	protein_coding
OMIM	604797
Entrez	10930

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 nonsense_mediated_decay

MANE Select: ENST00000244669

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1

ENST00000244669, ENST00000899065, ENST00001038519, ENST00001103019, ENST00001103020, ENST00001141626

RefSeq mRNA: 1 — MANE Select: NM_006789 NM_006789

CCDS: CCDS4848

Canonical transcript exons

ENST00000244669 — 3 exons

Exon	Start	End
ENSE00000849850	41053202	41053478
ENSE00000849851	41061328	41061892
ENSE00000849852	41064101	41064891

Expression profiles

Bgee: expression breadth ubiquitous, 189 present calls, max score 99.77.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 4.0319 / max 892.6586, expressed in 130 samples.

Highest expression (Bgee): skeletal muscle tissue of rectus abdominis, biceps brachii, triceps brachii, skeletal muscle tissue of biceps brachii, hindlimb stylopod muscle.

Genetic regulation across tissues (GTEx eQTL / sQTL)

APOBEC2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 15 tissues and its splicing (sQTL) in 1 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

16 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Testis	eqtl	4.2e-22	-0.38	6:41091871:A:G
Pancreas	eqtl	1.0e-10	+1.47	6:41041111:G:A
Esophagus Muscularis	eqtl	1.0e-09	+0.35	6:41051241:A:G
Esophagus Mucosa	eqtl	1.3e-07	+0.41	6:41051241:A:G
Muscle Skeletal	eqtl	1.8e-04	-0.08	6:41074090:A:G
Whole Blood	eqtl	1.0e-03	+0.18	6:41044666:A:G
Nerve Tibial	eqtl	1.1e-02	+0.19	6:40401554:A:C
Heart Atrial Appendage	eqtl	1.1e-02	+0.71	6:41090066:C:T
Colon Transverse	eqtl	1.2e-02	+0.20	6:41045177:C:T
Skin Not Sun Exposed Suprapubic	eqtl	1.5e-02	-0.22	6:40989871:G:A
Colon Sigmoid	eqtl	1.8e-02	+0.25	6:41094950:C:G
Muscle Skeletal	sqtl	1.9e-02	-0.30	6:41051241:A:G
Cells Cultured fibroblasts	eqtl	2.0e-02	+0.78	6:40485991:A:C
Heart Left Ventricle	eqtl	3.2e-02	+0.40	6:41244463:C:T
Minor Salivary Gland	eqtl	3.7e-02	-0.88	6:41738891:T:C
Esophagus Gastroesophageal Junction	eqtl	4.0e-02	+0.23	6:41077540:ATGTAT:A

FANTOM5 promoters

6 alternative TSS:

Promoter ID	TPM avg	Samples expressed
67725	2.2516	102
67729	1.0673	82
67727	0.3130	63
67726	0.1933	38
67730	0.1724	35
67728	0.0343	21

Top tissues by expression

showing 100 of 283 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.77	gold quality
biceps brachii	UBERON:0001507	99.50	gold quality
triceps brachii	UBERON:0001509	99.41	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.40	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.28	gold quality
gluteal muscle	UBERON:0002000	99.24	gold quality
diaphragm	UBERON:0001103	99.23	gold quality
vastus lateralis	UBERON:0001379	99.18	gold quality
skeletal muscle tissue	UBERON:0001134	99.15	gold quality
quadriceps femoris	UBERON:0001377	99.13	gold quality
deltoid	UBERON:0001476	98.76	gold quality
apex of heart	UBERON:0002098	98.43	gold quality
gastrocnemius	UBERON:0001388	98.35	gold quality
tibialis anterior	UBERON:0001385	97.92	gold quality
heart right ventricle	UBERON:0002080	97.88	gold quality
heart left ventricle	UBERON:0002084	97.71	gold quality
muscle organ	UBERON:0001630	97.65	gold quality
skeletal muscle organ	UBERON:0014892	97.65	gold quality
cardiac ventricle	UBERON:0002082	97.63	gold quality
left ventricle myocardium	UBERON:0006566	97.27	gold quality
muscle of leg	UBERON:0001383	97.08	gold quality
body of tongue	UBERON:0011876	95.92	gold quality
right atrium auricular region	UBERON:0006631	95.80	gold quality
muscle tissue	UBERON:0002385	95.62	gold quality
cardiac atrium	UBERON:0002081	95.33	gold quality
myocardium	UBERON:0002349	94.41	gold quality
heart	UBERON:0000948	92.32	gold quality
cardiac muscle of right atrium	UBERON:0003379	90.63	gold quality
islet of Langerhans	UBERON:0000006	90.47	gold quality
tongue	UBERON:0001723	87.47	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.27	gold quality
pancreas	UBERON:0001264	82.55	gold quality
body of pancreas	UBERON:0001150	80.74	gold quality
body of stomach	UBERON:0001161	80.25	gold quality
trabecular bone tissue	UBERON:0002483	79.22	gold quality
pharyngeal mucosa	UBERON:0000355	78.00	gold quality
stomach	UBERON:0000945	77.44	gold quality
pancreatic ductal cell	CL:0002079	76.70	silver quality
superior surface of tongue	UBERON:0007371	76.39	gold quality
tongue squamous epithelium	UBERON:0006919	73.95	silver quality
oral cavity	UBERON:0000167	73.77	gold quality
type B pancreatic cell	CL:0000169	73.71	gold quality
sperm	CL:0000019	71.94	silver quality
male germ cell	CL:0000015	71.13	silver quality
fundus of stomach	UBERON:0001160	71.02	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	69.94	gold quality
epithelium of esophagus	UBERON:0001976	66.38	gold quality
cervix epithelium	UBERON:0004801	66.33	gold quality
mucosa of stomach	UBERON:0001199	65.85	gold quality
cervix squamous epithelium	UBERON:0006922	65.74	gold quality
cerebellar vermis	UBERON:0004720	65.31	gold quality
esophagus squamous epithelium	UBERON:0006920	65.06	gold quality
bone marrow	UBERON:0002371	64.81	gold quality
vena cava	UBERON:0004087	64.20	gold quality
lower esophagus muscularis layer	UBERON:0035833	63.79	gold quality
lower esophagus	UBERON:0013473	63.61	gold quality
synovial joint	UBERON:0002217	63.60	gold quality
duodenum	UBERON:0002114	63.48	gold quality
cardia of stomach	UBERON:0001162	63.24	silver quality
bone marrow cell	CL:0002092	63.12	silver quality
olfactory bulb	UBERON:0002264	63.04	gold quality
placenta	UBERON:0001987	62.54	gold quality
thymus	UBERON:0002370	62.54	silver quality
jejunum	UBERON:0002115	62.37	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	62.13	gold quality
squamous epithelium	UBERON:0006914	61.66	gold quality
smooth muscle tissue	UBERON:0001135	61.50	gold quality
oocyte	CL:0000023	61.21	gold quality
left adrenal gland	UBERON:0001234	60.70	gold quality
adrenal tissue	UBERON:0018303	60.66	gold quality
endothelial cell	CL:0000115	60.34	gold quality
minor salivary gland	UBERON:0001830	60.00	gold quality
blood	UBERON:0000178	59.66	gold quality
mouth mucosa	UBERON:0003729	59.55	gold quality
left adrenal gland cortex	UBERON:0035825	59.51	gold quality
saliva-secreting gland	UBERON:0001044	59.43	gold quality
amniotic fluid	UBERON:0000173	59.36	gold quality
descending thoracic aorta	UBERON:0002345	59.24	gold quality
right adrenal gland	UBERON:0001233	58.86	gold quality
adrenal gland	UBERON:0002369	58.74	gold quality
decidua	UBERON:0002450	58.68	gold quality
adrenal cortex	UBERON:0001235	58.66	gold quality
muscle layer of sigmoid colon	UBERON:0035805	58.57	gold quality
colonic epithelium	UBERON:0000397	58.39	silver quality
cranial nerve II	UBERON:0000941	58.24	silver quality
tendon	UBERON:0000043	58.15	gold quality
mononuclear cell	CL:0000842	58.10	gold quality
monocyte	CL:0000576	58.02	gold quality
right adrenal gland cortex	UBERON:0035827	57.98	gold quality
leukocyte	CL:0000738	57.93	gold quality
small intestine	UBERON:0002108	57.50	gold quality
testis	UBERON:0000473	57.40	gold quality
left testis	UBERON:0004533	57.32	gold quality
ileal mucosa	UBERON:0000331	57.17	silver quality
esophagus	UBERON:0001043	56.93	gold quality
right testis	UBERON:0004534	56.91	gold quality
lateral nuclear group of thalamus	UBERON:0002736	56.51	gold quality
pylorus	UBERON:0001166	56.39	silver quality
superficial temporal artery	UBERON:0001614	56.22	gold quality
corpus callosum	UBERON:0002336	56.19	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-81608	yes	7.32
E-ANND-3	yes	4.86
E-HCAD-31	no	3.51

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 68 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Skeletal muscle	tissue	799.8	medium
Tongue	tissue	268.9
Heart muscle	tissue	110.4	medium
Esophagus	tissue	11.3	not detected
Thymus	tissue	10.2
Pancreas	tissue	7.4	low
Prostate	tissue	7.2	not detected
Stomach 1	tissue	6.0	not detected
Retina	tissue	5.3
Corpus callosum	tissue	3.0
Nucleus accumbens	tissue	2.7
Choroid plexus	tissue	2.3
Smooth muscle	tissue	2.0	not detected
Locus coeruleus	tissue	1.9
Hippocampus	tissue	1.9	not detected
Periaqueductal gray	tissue	1.9
Putamen	tissue	1.7
Medulla oblongata	tissue	1.7
Substantia nigra	tissue	1.7
Spinal cord	tissue	1.7
Ventral forebrain	tissue	1.7
Midbrain	tissue	1.6
Thalamus	tissue	1.6
Hypothalamus	tissue	1.6
Postcentral gyrus	tissue	1.6
Septum	tissue	1.6
Pons	tissue	1.5
Amygdala	tissue	1.5
Cerebellum	tissue	1.5	not detected
Superior colliculi	tissue	1.4
Hippocampal formation	tissue	1.4
Olfactory bulb	tissue	1.4
Cerebral cortex	tissue	1.3	not detected
Basal ganglia	tissue	1.3	not detected
Duodenum	tissue	1.3	not detected
Retrosplenial cortex	tissue	1.3
Somatosensory cortex	tissue	1.2
Occipital cortex	tissue	1.2
Insular cortex	tissue	1.2
Prefrontal cortex	tissue	1.1
Small intestine	tissue	1.1	not detected
Entorhinal cortex	tissue	1.1
Retrosplenial and cingulate cortex	tissue	1.1
Temporal cortex	tissue	1.1
Skin 1	tissue	1.0	not detected
Motor cortex	tissue	1.0
Bone marrow	tissue	1.0	not detected
Testis	tissue	0.9	not detected
Salivary gland	tissue	0.9	not detected
Placenta	tissue	0.7	not detected
Adrenal gland	tissue	0.3	not detected
Appendix	tissue	0.3	not detected
Lymph node	tissue	0.2	not detected
Breast	tissue	0.2	not detected
Urinary bladder	tissue	0.2	not detected
Lung	tissue	0.2	not detected
Spleen	tissue	0.2	not detected
Caudate putamen	tissue	0.2
Pituitary gland	tissue	0.1
Vagina	tissue	0.1	not detected

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Parieto-temporal junction (white matter) (5.1), Corpus callosum, genu (white matter) (4.6), Temporal white matter (4.2), Corpus callosum, splenium (white matter) (4.1), Nucleus raphe obscurus (3.8).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting APOBEC2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 45 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-219A-5P	99.91	73.36	735
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-4782-3P	99.88	73.31	735
HSA-MIR-6766-3P	99.88	73.38	732
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-4465	99.71	72.56	2096
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-18A-3P	99.56	65.68	1092
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-4687-3P	99.48	66.41	968
HSA-MIR-6165	99.44	67.12	1389
HSA-MIR-6513-5P	99.43	67.81	1071
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-520F-5P	99.34	70.40	1632
HSA-MIR-6731-5P	99.28	67.42	2375
HSA-MIR-8085	99.28	67.56	2362
HSA-MIR-4641	99.28	66.64	744
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-6876-3P	98.97	65.69	765
HSA-MIR-6871-5P	98.90	66.67	671
HSA-MIR-626	98.89	66.21	762

Functional genomics

gnomAD constraint: pLI 0.000375, LOEUF 1.08, missense Z -0.351 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000244669 — one region, missense o/e 1.10.

Literature-anchored findings (GeneRIF, showing 5)

• crystal structure of APOBEC2 (PMID:17187054)
• 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). (PMID:19911124)
• 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. (PMID:20138841)
• 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. (PMID:21469143)
• Expression and prognostic value of APOBEC2 in gastric adenocarcinoma and its association with tumor-infiltrating immune cells. (PMID:38166744)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	apobec2a	ENSDARG00000018881
danio_rerio	apobec2b	ENSDARG00000113992
mus_musculus	Apobec2	ENSMUSG00000040694
rattus_norvegicus	Apobec2	ENSRNOG00000012303

Paralogs (9): APOBEC3H (ENSG00000100298), APOBEC1 (ENSG00000111701), AICDA (ENSG00000111732), APOBEC3A (ENSG00000128383), APOBEC3F (ENSG00000128394), APOBEC3B (ENSG00000179750), APOBEC3G (ENSG00000239713), APOBEC3D (ENSG00000243811), APOBEC3C (ENSG00000244509)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1343178) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 11 distinct phenotype terms.

Mouse phenotype (MP)	Records
decreased body weight	2
decreased bone mineral density	1
myopathy	1
postnatal growth retardation	1
abnormal soleus morphology	1
increased variability of skeletal muscle fiber size	1
centrally nucleated skeletal muscle fibers	1
abnormal skeletal muscle fiber type ratio	1
decreased soleus weight	1
decreased tibialis anterior weight	1
decreased bone mineral content	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Pongo pygmaeus	Q694B4	98.7%	Diamond
Canis lupus familiaris	Q75W64	94.9%	Diamond
Bos taurus	Q2PT36	94.5%	Diamond
Gorilla gorilla gorilla	Q694B5	93.2%	Diamond
Erythrocebus patas	Q694C5	92.0%	Diamond
Chlorocebus aethiops	Q7YR25	92.0%	Diamond
Cricetulus longicaudatus	P60704	89.0%	Diamond
Macaca mulatta	Q19Q52	84.8%	Diamond
Mesocricetus auratus	Q9EQP0	83.7%	Diamond
Monodelphis domestica	Q9TUI7	67.4%	Diamond
Felis catus	Q4VDN5	51.1%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
OARD1	protein-coding	221443
TREML1	protein-coding	340205
NFYA	protein-coding	4800
TREM2	protein-coding	54209
TSPO2	protein-coding	222642
UNC5CL	protein-coding	222643

Protein

Protein identifiers

C->U-editing enzyme APOBEC-2 — Q9Y235 (reviewed: Q9Y235)

Alternative names: mRNA(cytosine(6666)) deaminase 2

All UniProt accessions (1): Q9Y235

UniProt curated annotations — full annotation on UniProt →

Function. Probable C to U editing enzyme whose physiological substrate is not yet known. Does not display detectable apoB mRNA editing. Has a low intrinsic cytidine deaminase activity. May play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation.

Subunit / interactions. Homotetramer.

Tissue specificity. Expressed exclusively in heart and skeletal muscle.

Cofactor. Binds 1 Zn(2+) ion per subunit.

Similarity. Belongs to the cytidine and deoxycytidylate deaminase family.

RefSeq proteins (1): NP_006780* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002125	CMP_dCMP_dom	Domain
IPR016193	Cytidine_deaminase-like	Homologous_superfamily
IPR050610	APOBEC_Cyt_Deaminase	Family
IPR059135	APOBEC2_CD_dom	Domain

Pfam: PF18772

Catalyzed reactions (Rhea)

• cytidine(6666) in apoB mRNA + H2O + H(+) = uridine(6666) in apoB mRNA + NH4(+) (RHEA:21772)

UniProt features (24 total): helix 8, strand 6, binding site 4, chain 1, domain 1, turn 1, region of interest 1, active site 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures by resolution:

PDB	Title	Method	Resolution (Å)
2NYT	The APOBEC2 Crystal Structure and Functional Implications for AID	X-RAY DIFFRACTION	2.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y235-F1	73.10	0.26

Human Protein Atlas

Protein class: Enzymes, ENZYME proteins, Hydrolases, Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm

Antibody reliability (HPA): IH enhanced · IF supported

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1)

Position	Role
100	proton donor

Ligand- & substrate-binding residues (4)

Position	Role
60	Zn(2+)
98	Zn(2+)
128	Zn(2+)
131	Zn(2+)

Function

Pathways and Gene Ontology

Reactome pathways

2 curated (TAS) of 4; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

4 pathways:

ID	Pathway	Evidence
R-HSA-75094	Formation of the Editosome	curated
R-HSA-72200	mRNA Editing: C to U Conversion	curated
R-HSA-8953854	Metabolism of RNA	—
R-HSA-75072	mRNA Editing	—

MSigDB gene sets: 136 (showing top): GCANCTGNY_MYOD_Q6, CAGCTG_AP4_Q5, GOBP_MRNA_MODIFICATION, NKX61_01, IRF7_01, GOBP_RNA_MODIFICATION, TGIF_01, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_TRANSCRIPTION_INITIATION_AT_RNA_POLYMERASE_II_PROMOTER, GATA1_04, TANAKA_METHYLATED_IN_ESOPHAGEAL_CARCINOMA, GOBP_CHROMATIN_REMODELING, GOBP_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, REACTOME_METABOLISM_OF_RNA, TGGAAA_NFAT_Q4_01

GO Biological Process (4): mRNA processing (GO:0006397), cytidine to uridine editing (GO:0016554), positive regulation of gene expression via chromosomal CpG island demethylation (GO:0044029), regulation of macromolecule biosynthetic process (GO:0010556)

GO Molecular Function (6): RNA binding (GO:0003723), cytidine deaminase activity (GO:0004126), metal ion binding (GO:0046872), catalytic activity (GO:0003824), hydrolase activity (GO:0016787), identical protein binding (GO:0042802)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737)

Reactome top-level categories

3 top-level categories:

Category	Pathways
mRNA Editing	1
mRNA Editing: C to U Conversion	1
Metabolism of RNA	1

GO top-level categories

18 GO namespaces:

Category	Terms
cellular anatomical structure	2
RNA processing	1
mRNA metabolic process	1
base conversion or substitution editing	1
transcription initiation-coupled chromatin remodeling	1
macromolecule biosynthetic process	1
regulation of biosynthetic process	1
regulation of macromolecule metabolic process	1
nucleic acid binding	1
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines	1
deaminase activity	1
cation binding	1
molecular_function	1
catalytic activity	1
protein binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 4 of 13 annotations. The rest are phylogenetic / computational / electronic (IEA).

4 experimentally-supported GO terms:

GO term	NS	Evidence
cytidine to uridine editing	BP	direct assay
positive regulation of gene expression via chromosomal CpG island demethylation	BP	direct assay
nucleoplasm	CC	direct assay
cytidine deaminase activity	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 690 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
APOBEC2	CDA	P32320	931
APOBEC2	APOBEC4	Q8WW27	923
APOBEC2	APOB	P04114	913
APOBEC2	ADAT2	Q7Z6V5	762
APOBEC2	ADAR	P55265	755
APOBEC2	ADAT3	Q96EY9	735
APOBEC2	UNG	P13051	645
APOBEC2	GFER	P55789	630
APOBEC2	A1CF	Q9NQ94	529
APOBEC2	TDG	Q13569	522
APOBEC2	CUL5	Q93034	461
APOBEC2	MBD4	O95243	444
APOBEC2	ADA	P00813	441
APOBEC2	RBM47	A0AV96	439
APOBEC2	APOBEC1	P41238	432

IntAct

BioGRID (2 interactions; top human partners by supporting records): APOBEC1 (Far Western), HS2ST1 (Cross-Linking-MS (XL-MS))

Disease & clinical

Genetic variants

Variant evidence for APOBEC2: 36 ClinVar records (0 pathogenic / likely pathogenic).

ClinVar

36 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	28
Likely benign	2
Benign	1

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 29 predictions of 168):

Position(s)	Effect	Δscore	Sites
6:41053479–41053480	donor_loss	1.0000	5
6:41064099	acceptor_gain	1.0000
6:41061318	acceptor_gain	0.9900
6:41061326–41061327	acceptor_loss	0.9900	6
6:41064099–41064100	acceptor_loss	0.9900	4
6:41061893–41061894	donor_loss	0.9800	6
6:41061897	donor_loss	0.9800	3
6:41064096	acceptor_gain	0.9800
6:41064100	acceptor_loss	0.9800
6:41053480	donor_loss	0.9700

AlphaMissense

630 missense substitutions predicted likely pathogenic (of 1,472 scored), across 139 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
M179	9	0.939	0.994
D92	8	0.991	0.999
H98	8	0.988	0.997
N58	8	0.987	0.999
H94	8	0.968	0.992
D183	8	0.966	0.992
F52	8	0.958	0.996
F103	8	0.953	0.997
F39	8	0.945	0.997
F54	8	0.945	1.000
F56	8	0.945	0.999
D207	8	0.944	0.990
N66	8	0.930	0.990
S62	8	0.921	0.999
R65	7	0.996	1.000
W205	7	0.993	0.999
C128	7	0.990	0.997
F191	7	0.990	0.997
C131	7	0.989	0.997
F184	7	0.989	0.996

HPA cancer prognostics

RNA cancer specificity: Cancer enhanced (Head and Neck Squamous Cell Carcinoma, Pancreatic Adenocarcinoma)

Disease associations

OMIM: gene MIM:604797 | disease phenotypes:

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases expression	2
fluorene-9-bisphenol	increases expression	1
CGP 52608	affects binding, increases reaction	1
incobotulinumtoxinA	decreases expression	1
Sunitinib	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Doxorubicin	increases expression	1
Hydrogen Peroxide	affects expression	1
Triclosan	decreases expression	1
Aflatoxin B1	increases methylation	1
beta-Naphthoflavone	decreases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.