ADPRM

Summary

ADPRM (ADP-ribose/CDP-alcohol diphosphatase, manganese dependent, HGNC:30925) is a protein-coding gene on chromosome 17p13.1, encoding Manganese-dependent ADP-ribose/CDP-alcohol diphosphatase (Q3LIE5). Hydrolyzes ADP-ribose, ADP, CDP-glycerol, CDP-choline, CDP-ethanolamine and cyclic ADP-ribose (cADPR), but not other non-reducing ADP-sugars or CDP-glucose.

Predicted to enable 2’,3’-cyclic-nucleotide 2’-phosphodiesterase activity; manganese ion binding activity; and pyrophosphatase activity. Predicted to be located in cytosol.

Source: NCBI Gene 56985 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 45 total — 1 pathogenic
• GTEx eGene: eQTL in 31 tissues, sQTL in 2 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.96 (unconstrained)
• MANE Select transcript: NM_020233

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30925
Approved symbol	ADPRM
Name	ADP-ribose/CDP-alcohol diphosphatase, manganese dependent
Location	17p13.1
Locus type	gene with protein product
Status	Approved
Aliases	MDS006
Ensembl gene	ENSG00000170222
Ensembl biotype	protein_coding
OMIM	621211
Entrez	56985

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 7 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron

MANE Select: ENST00000379774

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 1, TSL 5: 1

ENST00000379774, ENST00000468843, ENST00000527582, ENST00000609540, ENST00000895386, ENST00000923982, ENST00000975263, ENST00000975264, ENST00001094261, ENST00001119615

RefSeq mRNA: 1 — MANE Select: NM_020233 NM_020233

CCDS: CCDS11159

Canonical transcript exons

ENST00000379774 — 4 exons

Exon	Start	End
ENSE00001482437	10704910	10705527
ENSE00002714041	10697594	10697667
ENSE00003665152	10710834	10711558
ENSE00003675266	10706438	10706554

Expression profiles

Bgee: expression breadth ubiquitous, 238 present calls, max score 87.30.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.2715 / max 186.5104, expressed in 1755 samples.

Highest expression (Bgee): male germ line stem cell (sensu Vertebrata) in testis, calcaneal tendon, cartilage tissue, lymph node, oocyte.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ADPRM is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 31 tissues and its splicing (sQTL) in 2 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 33 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Muscle Skeletal	eqtl	4.4e-81	+0.51	17:10699650:G:A
Thyroid	eqtl	3.7e-76	-0.62	17:10706896:A:G
Cells Cultured fibroblasts	eqtl	2.8e-20	+0.22	17:10675475:T:C
Esophagus Muscularis	eqtl	3.3e-20	-0.38	17:10712152:C:G
Esophagus Gastroesophageal Junction	eqtl	6.6e-19	-0.45	17:10733965:C:G
Adipose Visceral Omentum	eqtl	1.3e-14	-0.23	17:10714910:G:A
Colon Sigmoid	eqtl	2.0e-12	+0.29	17:10730004:C:CG
Skin Sun Exposed Lower leg	eqtl	3.3e-10	+0.17	17:10674717:G:C
Brain Frontal Cortex BA9	eqtl	1.4e-09	+0.45	17:10693396:C:T
Testis	eqtl	6.4e-09	-0.30	17:10721966:T:TG
Colon Transverse	eqtl	1.5e-08	-0.21	17:10721966:T:TG
Whole Blood	eqtl	1.1e-07	+0.15	17:10695977:A:C
Artery Coronary	eqtl	4.1e-07	-0.33	17:10709079:A:G
Prostate	eqtl	5.0e-07	-0.26	17:10714910:G:A
Brain Cerebellar Hemisphere	eqtl	8.7e-07	+0.35	17:10674717:G:C
Ovary	eqtl	1.3e-06	-0.26	17:10728857:A:G
Adrenal Gland	eqtl	5.4e-06	-0.36	17:10730004:C:G
Skin Not Sun Exposed Suprapubic	eqtl	5.9e-06	+0.12	17:10678621:G:C
Liver	eqtl	7.5e-06	-0.39	17:10733813:G:A
Uterus	eqtl	8.3e-06	-0.40	17:10709079:A:G

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
159593	8.2715	1755

Top tissues by expression

showing 100 of 275 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.30	gold quality
calcaneal tendon	UBERON:0003701	86.94	gold quality
cartilage tissue	UBERON:0002418	85.75	gold quality
lymph node	UBERON:0000029	85.66	gold quality
oocyte	CL:0000023	85.31	gold quality
left ovary	UBERON:0002119	84.89	gold quality
popliteal artery	UBERON:0002250	84.87	gold quality
tibial artery	UBERON:0007610	84.87	gold quality
endocervix	UBERON:0000458	84.79	gold quality
cortical plate	UBERON:0005343	84.48	gold quality
body of uterus	UBERON:0009853	84.41	gold quality
gastrocnemius	UBERON:0001388	84.18	gold quality
ganglionic eminence	UBERON:0004023	83.90	gold quality
muscle of leg	UBERON:0001383	83.78	gold quality
ectocervix	UBERON:0012249	83.73	gold quality
aorta	UBERON:0000947	83.69	gold quality
right ovary	UBERON:0002118	83.67	gold quality
prostate gland	UBERON:0002367	83.64	gold quality
body of stomach	UBERON:0001161	82.98	gold quality
body of pancreas	UBERON:0001150	82.81	gold quality
granulocyte	CL:0000094	82.78	gold quality
descending thoracic aorta	UBERON:0002345	82.77	gold quality
right lobe of liver	UBERON:0001114	82.72	gold quality
left lobe of thyroid gland	UBERON:0001120	82.72	gold quality
ovary	UBERON:0000992	82.61	gold quality
hindlimb stylopod muscle	UBERON:0004252	82.34	gold quality
ascending aorta	UBERON:0001496	82.28	gold quality
thoracic aorta	UBERON:0001515	82.27	gold quality
thyroid gland	UBERON:0002046	82.18	gold quality
muscle layer of sigmoid colon	UBERON:0035805	82.02	gold quality
right lobe of thyroid gland	UBERON:0001119	81.82	gold quality
leukocyte	CL:0000738	81.77	gold quality
monocyte	CL:0000576	81.50	gold quality
mononuclear cell	CL:0000842	81.48	gold quality
subcutaneous adipose tissue	UBERON:0002190	81.47	gold quality
omental fat pad	UBERON:0010414	81.46	gold quality
peritoneum	UBERON:0002358	81.45	gold quality
stromal cell of endometrium	CL:0002255	81.43	gold quality
spleen	UBERON:0002106	81.39	gold quality
left coronary artery	UBERON:0001626	81.33	gold quality
ventricular zone	UBERON:0003053	81.33	gold quality
islet of Langerhans	UBERON:0000006	81.28	gold quality
vagina	UBERON:0000996	81.28	gold quality
small intestine Peyer’s patch	UBERON:0003454	81.24	gold quality
skin of leg	UBERON:0001511	81.16	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	81.07	gold quality
gall bladder	UBERON:0002110	80.98	gold quality
pancreas	UBERON:0001264	80.90	gold quality
adipose tissue of abdominal region	UBERON:0007808	80.89	gold quality
tibial nerve	UBERON:0001323	80.81	gold quality
coronary artery	UBERON:0001621	80.76	gold quality
lower esophagus muscularis layer	UBERON:0035833	80.70	gold quality
lower esophagus	UBERON:0013473	80.67	gold quality
rectum	UBERON:0001052	80.65	gold quality
skin of abdomen	UBERON:0001416	80.64	gold quality
right coronary artery	UBERON:0001625	80.64	gold quality
stomach	UBERON:0000945	80.63	gold quality
muscle organ	UBERON:0001630	80.61	gold quality
mucosa of stomach	UBERON:0001199	80.50	gold quality
right lung	UBERON:0002167	80.12	gold quality
left uterine tube	UBERON:0001303	80.02	gold quality
blood	UBERON:0000178	80.01	gold quality
mucosa of transverse colon	UBERON:0004991	79.98	gold quality
small intestine	UBERON:0002108	79.67	gold quality
fundus of stomach	UBERON:0001160	79.55	gold quality
minor salivary gland	UBERON:0001830	79.35	gold quality
esophagus	UBERON:0001043	79.31	gold quality
zone of skin	UBERON:0000014	79.21	gold quality
adipose tissue	UBERON:0001013	79.16	gold quality
right uterine tube	UBERON:0001302	79.16	gold quality
bone marrow	UBERON:0002371	79.12	gold quality
connective tissue	UBERON:0002384	79.06	gold quality
transverse colon	UBERON:0001157	78.77	gold quality
female reproductive system	UBERON:0000474	78.75	gold quality
right adrenal gland cortex	UBERON:0035827	78.61	gold quality
left adrenal gland	UBERON:0001234	78.59	gold quality
tibia	UBERON:0000979	78.46	gold quality
right adrenal gland	UBERON:0001233	78.45	gold quality
epithelium of nasopharynx	UBERON:0001951	78.45	silver quality
intestine	UBERON:0000160	78.39	gold quality
saliva-secreting gland	UBERON:0001044	78.36	gold quality
uterus	UBERON:0000995	78.35	gold quality
lower esophagus mucosa	UBERON:0035834	78.33	gold quality
colonic epithelium	UBERON:0000397	78.31	gold quality
left adrenal gland cortex	UBERON:0035825	78.31	gold quality
myometrium	UBERON:0001296	78.30	gold quality
biceps brachii	UBERON:0001507	78.29	silver quality
esophagus mucosa	UBERON:0002469	78.29	gold quality
metanephros cortex	UBERON:0010533	78.13	gold quality
tendon	UBERON:0000043	78.02	gold quality
deltoid	UBERON:0001476	78.00	silver quality
colon	UBERON:0001155	77.96	gold quality
endometrium	UBERON:0001295	77.93	gold quality
large intestine	UBERON:0000059	77.92	gold quality
vermiform appendix	UBERON:0001154	77.92	gold quality
mouth mucosa	UBERON:0003729	77.90	gold quality
adrenal cortex	UBERON:0001235	77.76	gold quality
upper lobe of left lung	UBERON:0008952	77.71	gold quality
embryo	UBERON:0000922	77.64	gold quality
upper lobe of lung	UBERON:0008948	77.61	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.06

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 77 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Cerebellum	tissue	21.2	medium
Pons	tissue	17.3
Thalamus	tissue	15.2
Midbrain	tissue	15.1
Hypothalamus	tissue	15.1
Superior colliculi	tissue	15.1
Periaqueductal gray	tissue	14.4
Medulla oblongata	tissue	13.7
Substantia nigra	tissue	13.3
Spinal cord	tissue	13.3
Septum	tissue	13.3
Putamen	tissue	12.9
Cerebral cortex	tissue	12.6	medium
Motor cortex	tissue	12.6
Frontal cortex	tissue	12.2
Amygdala	tissue	12.1
Hippocampal formation	tissue	12.1
Ventral forebrain	tissue	12.1
Entorhinal cortex	tissue	11.7
Caudate putamen	tissue	11.7
Retrosplenial cortex	tissue	11.6
Occipital cortex	tissue	11.6
Prefrontal cortex	tissue	11.3
Corpus callosum	tissue	11.3
Somatosensory cortex	tissue	11.1
Insular cortex	tissue	11.1
Retrosplenial and cingulate cortex	tissue	10.9
Olfactory bulb	tissue	10.9
Temporal cortex	tissue	10.9
Basal ganglia	tissue	10.7	low
Retina	tissue	9.2
Prostate	tissue	7.2	low
Ovary	tissue	6.5	not detected
Thymus	tissue	6.5
Lymph node	tissue	6.4	low
Liver	tissue	6.4	not detected
Bone marrow	tissue	6.2	low
Thyroid gland	tissue	6.1	high
Endometrium 1	tissue	6.0	low
Tongue	tissue	5.9
Breast	tissue	5.3	not detected
Pancreas	tissue	5.2	low
Tonsil	tissue	5.2	low
Adipose tissue	tissue	4.9	not detected
Nucleus accumbens	tissue	4.7
Appendix	tissue	4.7	medium
Spleen	tissue	4.4	low
Gallbladder	tissue	4.4	low
Postcentral gyrus	tissue	4.4
Vagina	tissue	4.1	not detected
Locus coeruleus	tissue	4.1
Small intestine	tissue	4.0	medium
Skeletal muscle	tissue	3.9	not detected
Choroid plexus	tissue	3.8
Adrenal gland	tissue	3.8	low
Cervix	tissue	3.7	not detected
Stomach 1	tissue	3.7	low
Kidney	tissue	3.7	low
Hippocampus	tissue	3.7	low
Fallopian tube	tissue	3.7	not detected

Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Ventral spinal cord (13.3), Dorsal spinal cord (12.8), Subiculum (12.1), Ventral hippocampus (12.1), Dorsal hippocampus (11.8).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

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

21 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-5004-5P	99.68	66.63	1294
HSA-MIR-7159-3P	99.51	70.17	1920
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-4728-3P	99.47	68.94	981
HSA-MIR-4751	98.80	64.95	525
HSA-MIR-496	98.66	69.80	931
HSA-MIR-640	98.44	66.93	644
HSA-MIR-6884-3P	98.05	65.32	750
HSA-MIR-4468	98.01	66.85	1187
HSA-MIR-4670-3P	97.37	68.35	1378
HSA-MIR-27B-5P	97.34	66.55	549
HSA-MIR-6895-5P	97.05	64.96	522
HSA-MIR-1296-5P	93.94	67.71	305

Functional genomics

gnomAD constraint: pLI 0.000245, LOEUF 0.959, missense Z 1.7 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000379774 — one region, missense o/e 0.82.

Literature-anchored findings (GeneRIF, showing 1)

• Results from homology modeling and simulation studies of docking and molecular dynamics revealed the structural and dynamic information on human ADPRibase-Mn with the catalytic sites. (PMID:25692488)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	adprm	ENSDARG00000026090
mus_musculus	Adprm	ENSMUSG00000020910
rattus_norvegicus	Adprm	ENSRNOG00000003397

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1913608) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 8 distinct phenotype terms.

Mouse phenotype (MP)	Records
decreased anxiety-related response	1
hyperactivity	1
decreased locomotor activity	1
decreased startle reflex	1
increased heart rate	1
abnormal behavior	1
decreased respiratory quotient	1
decreased thigmotaxis	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
Xenopus tropicalis	Q66JJ3	88.1%	Diamond
Bos taurus	A7YY53	87.5%	Diamond
Xenopus laevis	Q7T0Q0	87.1%	Diamond
Oryza sativa Japonica Group	Q8H5F8	68.6%	Diamond
Arabidopsis thaliana	Q9SB68	68.6%	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
TMEM220-AS1	ncRNA	101101775
TMEM220	protein-coding	388335
PIRT	protein-coding	644139
TMEM238L	protein-coding	100289255
MYH3	protein-coding	4621
SCO1	protein-coding	6341
MYHAS	ncRNA	100128560
MYH2	protein-coding	4620
MYH1	protein-coding	4619

Protein

Protein identifiers

Manganese-dependent ADP-ribose/CDP-alcohol diphosphatase — Q3LIE5 (reviewed: Q3LIE5)

Alternative names: ADPRibase-Mn, CDP-choline phosphohydrolase

All UniProt accessions (3): Q3LIE5, V9GYR6, W0NWJ0

UniProt curated annotations — full annotation on UniProt →

Function. Hydrolyzes ADP-ribose, ADP, CDP-glycerol, CDP-choline, CDP-ethanolamine and cyclic ADP-ribose (cADPR), but not other non-reducing ADP-sugars or CDP-glucose. May be involved in immune cell signaling as suggested by the second-messenger role of ADP-ribose, which activates TRPM2 as a mediator of oxidative/nitrosative stress.

Subunit / interactions. Monomer.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the ADPRibase-Mn family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q3LIE5-1	1	yes
Q3LIE5-3	2

RefSeq proteins (1): NP_064618* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004843	Calcineurin-like_PHP	Domain
IPR029052	Metallo-depent_PP-like	Homologous_superfamily
IPR041869	MPP_ADPRM	Domain

Pfam: PF00149

Enzyme classification (BRENDA)

• EC 3.6.1.13 — ADP-ribose diphosphatase (BRENDA: 21 organisms, 113 substrates, 38 inhibitors, 159 Km, 142 kcat entries)
• EC 3.6.1.53 — Mn2+-dependent ADP-ribose/CDP-alcohol diphosphatase (BRENDA: 4 organisms, 35 substrates, 3 inhibitors, 70 Km, 69 kcat entries)

Substrate kinetics (BRENDA)

24 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ADP-RIBOSE	0.0019–2.1	55
ADPRIBOSE	0.0004–0.37	23
ADP-D-RIBOSE	0.0209–0.3213	21
ADP-RIBOSE	0.015–2.1	19
CDP-CHOLINE	0.3–43	18
2’,3’-CAMP	0.76–7.6	16
CDP-CHOLINE	0.35–43	16
CYCLIC ADP-RIBOSE	0.17–0.78	5
CADP-RIBOSE	0.19–0.78	4
ADP	0.201–19	4
CDP-ETHANOLAMINE	1.422–31	4
CDP-GLYCEROL	0.304–6.3	4
8-OXO-DGDP	0.0035–0.0038	2
ADP	2.65–19	2

Catalyzed reactions (Rhea)

• ADP-D-ribose + H2O = D-ribose 5-phosphate + AMP + 2 H(+) (RHEA:10412)
• CDP-glycerol + H2O = sn-glycerol 3-phosphate + CMP + 2 H(+) (RHEA:21692)
• CDP-choline + H2O = phosphocholine + CMP + 2 H(+) (RHEA:32487)
• ADP + H2O = AMP + phosphate + H(+) (RHEA:61436)
• CDP-ethanolamine + H2O = phosphoethanolamine + CMP + 2 H(+) (RHEA:86791)
• cyclic ADP-beta-D-ribose + H2O = 1-(5-phospho-beta-D-ribosyl)-5’-AMP + 2 H(+) (RHEA:86799)

UniProt features (27 total): mutagenesis site 10, binding site 9, splice variant 2, sequence variant 2, sequence conflict 2, chain 1, modified residue 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q3LIE5-F1	94.59	0.92

Human Protein Atlas

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

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm

Antibody reliability (HPA): IH approved · IF approved

Functional residue map

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

Ligand- & substrate-binding residues (9)

Position	Role
25	Zn(2+)
27	Zn(2+)
74	Zn(2+)
110	Zn(2+)
241	Zn(2+)
278	Zn(2+)
280	Zn(2+)

Post-translational modifications (1)

Type	Positions
N-acetylmethionine	1

Mutagenesis-validated functional residues (10)

Position	Phenotype
27	catalytic efficiency is reduced 11-fold with adp-d-ribose or cdp-choline as substrate.
37	catalytic efficiency is reduced 50-fold with adp-d-ribose and 4-fold with cdp-choline as substrates. catalytic efficiency is reduced …
37	does not affect enzymatic activity.
43	loss of enzymatic activity.
110	catalytic efficiency is reduced 40-fold with adp-d-ribose and 100-fold with cdp-choline as substrates.
111	catalytic efficiency is reduced 200-fold with adp-d-ribose and 500-fold with cdp-choline as substrates.
111	catalytic efficiency is reduced 20-fold with adp-d-ribose and 75-fold with cdp-choline as substrates.
196	catalytic efficiency is reduced 5-fold with adp-d-ribose and 2-fold with cdp-choline as substrates. catalytic efficiency is reduced …
210	catalytic efficiency is reduced 70-fold with adp-d-ribose and 40-fold with cdp-choline as substrates.
253	has a very mild effect on enzymatic activity; catalytic efficiency is increased 1.7-fold with adp-d-ribose and is unchanged with …

Function

Pathways and Gene Ontology

Reactome pathways

1 curated (TAS) of 5; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

5 pathways:

ID	Pathway	Evidence
R-HSA-2393930	Phosphate bond hydrolysis by NUDT proteins	curated
R-HSA-1430728	Metabolism	—
R-HSA-15869	Metabolism of nucleotides	—
R-HSA-8956319	Nucleotide catabolism	—
R-HSA-74259	Purine catabolism	—

MSigDB gene sets: 153 (showing top): CAGCAGG_MIR370, AAAGGGA_MIR204_MIR211, KEGG_PURINE_METABOLISM, HAN_SATB1_TARGETS_DN, ACEVEDO_LIVER_CANCER_UP, BRACHAT_RESPONSE_TO_CAMPTOTHECIN_DN, OSMAN_BLADDER_CANCER_DN, CTGAGCC_MIR24, CHEN_HOXA5_TARGETS_9HR_UP, SCGGAAGY_ELK1_02, GOMF_CYCLIC_NUCLEOTIDE_PHOSPHODIESTERASE_ACTIVITY, GOMF_PHOSPHORIC_DIESTER_HYDROLASE_ACTIVITY, GOMF_MANGANESE_ION_BINDING, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES

GO Molecular Function (6): 2’,3’-cyclic-nucleotide 2’-phosphodiesterase activity (GO:0008663), manganese ion binding (GO:0030145), ADP-ribose diphosphatase activity (GO:0047631), CDP-glycerol diphosphatase activity (GO:0047734), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)

GO Cellular Component (1): cytosol (GO:0005829)

Reactome top-level categories

4 top-level categories:

Category	Pathways
Purine catabolism	1
Metabolism	1
Nucleotide catabolism	1
Metabolism of nucleotides	1

GO top-level categories

7 GO namespaces:

Category	Terms
pyrophosphatase activity	2
cyclic-nucleotide phosphodiesterase activity	1
transition metal ion binding	1
catalytic activity	1
cation binding	1
cytoplasm	1
cellular anatomical structure	1

Protein interactions and networks

STRING

showing 15 of 382 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ADPRM	TMEM220	Q6QAJ8	633
ADPRM	MYH13	Q9UKX3	590
ADPRM	A0A2U3TZT1	A0A2U3TZT1	571
ADPRM	PIRT	P0C851	555
ADPRM	MYH8	P13535	490
ADPRM	MYO1G	B0I1T2	455
ADPRM	BST1	Q10588	433
ADPRM	CRLS1	Q9UJA2	431
ADPRM	NTPCR	Q9BSD7	403
ADPRM	LCLAT1	Q6UWP7	400
ADPRM	GPATCH2L	Q9NWQ4	378
ADPRM	PHOSPHO1	Q8TCT1	357
ADPRM	CCDC154	A6NI56	348
ADPRM	KRT32	Q14532	346
ADPRM	PLPP1	O14494	346

IntAct

BioGRID (5 interactions; top human partners by supporting records): AGO2 (Affinity Capture-RNA), FH (Positive Genetic), GTF2H4 (Negative Genetic), PHF5A (Positive Genetic), XPO1 (Negative Genetic)

Disease & clinical

Genetic variants

Variant evidence for ADPRM: 45 ClinVar records (1 pathogenic / likely pathogenic); 1 GWAS association. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	32
Likely benign	4
Benign	4

Top pathogenic / likely-pathogenic (1)

Showing all 1 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
150528	GRCh38/hg38 17p13.1-12(chr17:10334509-10900316)x1	Pathogenic	no assertion criteria provided	1

Per-variant reference — Sugi Variant

Explore ADPRM’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 29 predictions of 418):

Position(s)	Effect	Δscore	Sites
17:10706555–10706556	donor_loss	1.0000	3
17:10697668–10697669	donor_loss	0.9900	5
17:10704908–10704909	acceptor_loss	0.9900	3
17:10706436–10706437	acceptor_loss	0.9900	5
17:10706555–10706556	donor_loss	0.9900	2
17:10706559	donor_loss	0.9900
17:10710826	acceptor_gain	0.9900
17:10710832–10710833	acceptor_loss	0.9900	6
17:10704908–10704909	acceptor_loss	0.9800	2
17:10707058	acceptor_gain	0.9800

AlphaMissense

762 missense substitutions predicted likely pathogenic (of 2,309 scored), across 189 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
D74	8	0.988	0.998
H111	8	0.987	0.994
H241	8	0.986	0.996
H278	8	0.982	0.993
D25	8	0.981	0.991
N110	8	0.976	0.997
D77	8	0.974	0.990
H280	8	0.963	0.986
D164	8	0.937	0.983
D287	8	0.912	0.961
N191	8	0.858	0.973
F20	8	0.846	0.975
F18	8	0.775	0.931
D167	8	0.735	0.917
W256	7	0.967	0.997
F210	7	0.966	0.995
W59	7	0.963	0.994
W221	7	0.963	0.985
N211	7	0.930	0.989
E301	7	0.923	0.970

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

1 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	3.32e-06

Disease associations

OMIM: gene MIM:621211 | disease phenotypes:

GWAS associations

1 associations:

Study	Trait	p-value
GCST002183_2	Relative hand skill in reading disability	8e-6

EFO canonical traits (from GWAS)

1 canonical traits:

EFO ID	Trait name
EFO:0009902	handedness

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

33 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases expression	3
Cyclosporine	increases expression	3
sodium arsenite	decreases expression	2
Air Pollutants	increases abundance, increases expression, decreases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
GSK-J4	increases expression	1
decabromobiphenyl ether	affects expression	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
di-n-butylphosphoric acid	affects expression	1
pentabromodiphenyl ether	increases expression	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	increases expression	1
enzalutamide	decreases expression	1
NSC 689534	affects binding, increases expression	1
mono(carboxy-isooctyl)phthalate	affects expression	1
Temozolomide	increases expression	1
Leflunomide	increases expression	1
Acetaminophen	increases expression	1
Arsenic	affects methylation	1
Atrazine	increases expression	1
Copper	affects binding, increases expression	1
Methyl Methanesulfonate	increases expression	1
Phthalic Acids	decreases methylation	1
Quercetin	increases expression	1
Dihydrotestosterone	increases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Tunicamycin	increases expression	1

Clinical trials (associated diseases)

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