CPXM2

Summary

CPXM2 (carboxypeptidase X, M14 family member 2, HGNC:26977) is a protein-coding gene on chromosome 10q26.13, encoding Inactive carboxypeptidase-like protein X2 (Q8N436). May be involved in cell-cell interactions.

Predicted to enable metallocarboxypeptidase activity and zinc ion binding activity. Predicted to be involved in proteolysis. Predicted to be located in extracellular region.

Source: NCBI Gene 119587 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 169 total
• GTEx eGene: eQTL in 35 tissues, sQTL in 12 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.97 (unconstrained)
• MANE Select transcript: NM_198148
• Notable: 169 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26977
Approved symbol	CPXM2
Name	carboxypeptidase X, M14 family member 2
Location	10q26.13
Locus type	gene with protein product
Status	Approved
Aliases	UNQ676, CPX2
Ensembl gene	ENSG00000121898
Ensembl biotype	protein_coding
OMIM	617348
Entrez	119587

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 10 protein_coding, 4 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

MANE Select: ENST00000241305

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 1, TSL 3: 1, TSL 5: 1

ENST00000241305, ENST00000368854, ENST00000481775, ENST00000615851, ENST00000909347, ENST00000909348, ENST00000909349, ENST00000909350, ENST00001000112, ENST00001000113, ENST00001000114, ENST00001000115, ENST00001019275, ENST00001111088, ENST00001112720, ENST00001136826

RefSeq mRNA: 1 — MANE Select: NM_198148 NM_198148

CCDS: CCDS7637

Canonical transcript exons

ENST00000241305 — 14 exons

Exon	Start	End
ENSE00001251250	123745639	123747017
ENSE00001772866	123768526	123768722
ENSE00001870412	123891356	123891807
ENSE00003464101	123761872	123762169
ENSE00003474799	123797976	123798126
ENSE00003507650	123880211	123880309
ENSE00003536039	123799115	123799199
ENSE00003554551	123780167	123780255
ENSE00003572896	123766973	123767152
ENSE00003583394	123757213	123757352
ENSE00003653243	123862614	123862723
ENSE00003663070	123770916	123771039
ENSE00003683139	123842349	123842488
ENSE00003688522	123754663	123754762

Expression profiles

Bgee: expression breadth ubiquitous, 232 present calls, max score 98.31.

FANTOM5 (CAGE): breadth broad, TPM avg 7.7595 / max 360.8522, expressed in 709 samples.

Highest expression (Bgee): coronary artery, ascending aorta, thoracic aorta, descending thoracic aorta, saphenous vein.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CPXM2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 35 tissues and its splicing (sQTL) in 12 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 47 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Cells Cultured fibroblasts	eqtl	1.7e-70	-0.72	10:123891193:G:C
Nerve Tibial	sqtl	4.9e-55	+1.03	10:123860718:G:A
Skin Sun Exposed Lower leg	eqtl	3.1e-36	-0.37	10:123891193:G:C
Skin Not Sun Exposed Suprapubic	eqtl	3.8e-30	-0.35	10:123891193:G:C
Esophagus Mucosa	eqtl	6.2e-25	-0.29	10:123891193:G:C
Ovary	eqtl	1.3e-23	-0.66	10:123891193:G:C
Heart Left Ventricle	eqtl	3.1e-23	-0.45	10:123891193:G:C
Skin Sun Exposed Lower leg	sqtl	4.1e-22	+0.72	10:123860718:G:A
Spleen	eqtl	8.3e-22	-0.59	10:123891193:G:C
Testis	sqtl	2.2e-21	-0.83	10:123943731:T:C
Lung	eqtl	9.9e-21	-0.31	10:123891193:G:C
Pancreas	eqtl	3.5e-17	-0.41	10:123891193:G:C
Brain Substantia nigra	eqtl	3.4e-16	-0.56	10:123892384:A:T
Liver	eqtl	3.9e-15	-0.61	10:123914031:T:G
Adrenal Gland	eqtl	4.5e-15	-0.49	10:123892384:A:T
Skin Not Sun Exposed Suprapubic	sqtl	9.6e-15	+0.56	10:123860718:G:A
Thyroid	eqtl	1.5e-14	-0.21	10:123869024:G:A
Artery Aorta	sqtl	6.5e-13	+0.61	10:123722347:C:T
Artery Tibial	sqtl	1.4e-10	+0.44	10:123751333:A:G
Nerve Tibial	eqtl	3.1e-10	-0.18	10:123862734:CA:C

FANTOM5 promoters

2 alternative TSS:

Promoter ID	TPM avg	Samples expressed
111781	7.7460	709
111780	0.0135	3

Top tissues by expression

showing 100 of 252 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right coronary artery	UBERON:0001625	98.31	gold quality
ascending aorta	UBERON:0001496	98.30	gold quality
thoracic aorta	UBERON:0001515	98.29	gold quality
descending thoracic aorta	UBERON:0002345	98.21	gold quality
saphenous vein	UBERON:0007318	98.12	gold quality
vena cava	UBERON:0004087	97.01	gold quality
pericardium	UBERON:0002407	96.66	gold quality
trigeminal ganglion	UBERON:0001675	96.54	gold quality
coronary artery	UBERON:0001621	96.20	gold quality
left coronary artery	UBERON:0001626	95.91	gold quality
aorta	UBERON:0000947	95.74	gold quality
urethra	UBERON:0000057	94.81	gold quality
trachea	UBERON:0003126	94.63	gold quality
dorsal root ganglion	UBERON:0000044	94.44	gold quality
lower esophagus muscularis layer	UBERON:0035833	94.19	gold quality
lower esophagus	UBERON:0013473	94.07	gold quality
corpus epididymis	UBERON:0004359	94.00	gold quality
muscle layer of sigmoid colon	UBERON:0035805	93.98	gold quality
popliteal artery	UBERON:0002250	93.84	gold quality
tibial artery	UBERON:0007610	93.82	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	93.54	gold quality
smooth muscle tissue	UBERON:0001135	93.13	gold quality
tibial nerve	UBERON:0001323	90.91	gold quality
superficial temporal artery	UBERON:0001614	90.61	gold quality
mucosa of stomach	UBERON:0001199	90.37	gold quality
pigmented layer of retina	UBERON:0001782	90.30	gold quality
cardiac muscle of right atrium	UBERON:0003379	89.47	silver quality
calcaneal tendon	UBERON:0003701	89.43	gold quality
tibia	UBERON:0000979	89.34	gold quality
cartilage tissue	UBERON:0002418	89.28	gold quality
ileal mucosa	UBERON:0000331	88.32	gold quality
tendon of biceps brachii	UBERON:0008188	88.24	gold quality
layer of synovial tissue	UBERON:0007616	87.75	gold quality
left ventricle myocardium	UBERON:0006566	87.34	gold quality
tibialis anterior	UBERON:0001385	86.32	silver quality
mucosa of paranasal sinus	UBERON:0005030	86.05	gold quality
fundus of stomach	UBERON:0001160	85.99	gold quality
kidney epithelium	UBERON:0004819	85.88	silver quality
tendon	UBERON:0000043	85.72	gold quality
cardia of stomach	UBERON:0001162	85.60	gold quality
peritoneum	UBERON:0002358	85.41	gold quality
omental fat pad	UBERON:0010414	85.38	gold quality
left uterine tube	UBERON:0001303	85.24	gold quality
adipose tissue of abdominal region	UBERON:0007808	84.57	gold quality
synovial joint	UBERON:0002217	84.51	gold quality
mammary duct	UBERON:0001765	84.28	gold quality
epithelium of mammary gland	UBERON:0003244	84.23	gold quality
esophagus	UBERON:0001043	83.99	gold quality
pancreatic ductal cell	CL:0002079	83.93	silver quality
urinary bladder	UBERON:0001255	83.73	gold quality
medulla oblongata	UBERON:0001896	83.62	gold quality
subcutaneous adipose tissue	UBERON:0002190	83.46	gold quality
nipple	UBERON:0002030	83.42	gold quality
thoracic mammary gland	UBERON:0005200	83.09	gold quality
mammary gland	UBERON:0001911	83.01	gold quality
caput epididymis	UBERON:0004358	82.95	gold quality
penis	UBERON:0000989	82.94	gold quality
gall bladder	UBERON:0002110	82.46	gold quality
pylorus	UBERON:0001166	82.29	gold quality
adipose tissue	UBERON:0001013	81.80	gold quality
myometrium	UBERON:0001296	81.74	gold quality
colon	UBERON:0001155	81.67	gold quality
spleen	UBERON:0002106	81.62	gold quality
spinal cord	UBERON:0002240	81.60	gold quality
amniotic fluid	UBERON:0000173	81.51	gold quality
cauda epididymis	UBERON:0004360	81.50	gold quality
colonic epithelium	UBERON:0000397	81.44	gold quality
cardiac atrium	UBERON:0002081	81.37	gold quality
ventral tegmental area	UBERON:0002691	81.33	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	81.31	gold quality
sural nerve	UBERON:0015488	81.23	gold quality
large intestine	UBERON:0000059	81.22	gold quality
superior vestibular nucleus	UBERON:0007227	81.02	gold quality
inferior vagus X ganglion	UBERON:0005363	81.00	gold quality
right atrium auricular region	UBERON:0006631	80.97	gold quality
right lobe of thyroid gland	UBERON:0001119	80.88	gold quality
left testis	UBERON:0004533	80.65	gold quality
upper arm skin	UBERON:0004263	80.62	gold quality
apex of heart	UBERON:0002098	80.60	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	80.47	gold quality
right testis	UBERON:0004534	80.38	gold quality
adult mammalian kidney	UBERON:0000082	80.28	gold quality
thymus	UBERON:0002370	80.28	gold quality
germinal epithelium of ovary	UBERON:0001304	80.15	gold quality
deltoid	UBERON:0001476	80.10	silver quality
thyroid gland	UBERON:0002046	80.02	gold quality
adenohypophysis	UBERON:0002196	79.72	gold quality
left lobe of thyroid gland	UBERON:0001120	79.71	gold quality
testis	UBERON:0000473	79.67	gold quality
intestine	UBERON:0000160	79.63	gold quality
subthalamic nucleus	UBERON:0001906	79.22	gold quality
tongue	UBERON:0001723	79.04	gold quality
transverse colon	UBERON:0001157	79.01	gold quality
gingiva	UBERON:0001828	78.86	gold quality
parietal pleura	UBERON:0002400	78.64	gold quality
body of tongue	UBERON:0011876	78.64	gold quality
substantia nigra pars reticulata	UBERON:0001966	78.62	silver quality
dorsal plus ventral thalamus	UBERON:0001897	78.52	gold quality
substantia nigra pars compacta	UBERON:0001965	78.41	silver quality
body of uterus	UBERON:0009853	77.98	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 77 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Choroid plexus	tissue	171.5
Epididymis	tissue	56.5	medium
Smooth muscle	tissue	53.1	not detected
Ovary	tissue	45.2	not detected
Spinal cord	tissue	35.4
Superior colliculi	tissue	35.1
Medulla oblongata	tissue	28.9
Cerebellum	tissue	28.7	not detected
Adipose tissue	tissue	27.3	not detected
Urinary bladder	tissue	24.2	not detected
Substantia nigra	tissue	21.4
Midbrain	tissue	19.4
Locus coeruleus	tissue	18.5
Esophagus	tissue	17.2	not detected
Thalamus	tissue	17.2
Spleen	tissue	15.9	not detected
Hippocampal formation	tissue	15.5
Prostate	tissue	14.2	low
Putamen	tissue	12.7
Heart muscle	tissue	12.4	low
Cerebral cortex	tissue	12.0	not detected
Seminal vesicle	tissue	12.0	not detected
Occipital cortex	tissue	12.0
Entorhinal cortex	tissue	11.8
Pons	tissue	11.6
Somatosensory cortex	tissue	11.3
Fallopian tube	tissue	10.8	low
Pituitary gland	tissue	10.5
Gallbladder	tissue	10.5	not detected
Colon	tissue	10.3	low
Prefrontal cortex	tissue	10.2
Amygdala	tissue	10.2
Retrosplenial and cingulate cortex	tissue	10.2
Olfactory bulb	tissue	10.2
Septum	tissue	9.9
Kidney	tissue	9.8	not detected
Temporal cortex	tissue	9.1
Testis	tissue	9.0	not detected
Vagina	tissue	8.8	not detected
Ventral forebrain	tissue	8.7
Salivary gland	tissue	8.5	not detected
Motor cortex	tissue	8.4
Hypothalamus	tissue	8.3
Retrosplenial cortex	tissue	8.1
Periaqueductal gray	tissue	8.0
Basal ganglia	tissue	7.7	not detected
Breast	tissue	7.5	not detected
Tongue	tissue	7.4
Thymus	tissue	7.3
Rectum	tissue	6.5	low
Insular cortex	tissue	6.4
Endometrium 1	tissue	6.2	not detected
Lung	tissue	6.2	not detected
Tonsil	tissue	6.2	not detected
Adrenal gland	tissue	6.1	not detected
Duodenum	tissue	5.8	low
Appendix	tissue	5.6	low
Skin 1	tissue	5.4	not detected
Small intestine	tissue	5.1	not detected
Pancreas	tissue	4.9	not detected

Brain sub-regions (HPA Brain Atlas): detected in 190; highest nTPM — Blood vessel (199.4), Cervical spinal cord, central gray (42.5), Dorsal funiculus (white matter) (37.7), Dorsal spinal cord (35.4), Area postrema (34.7).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting CPXM2 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-7110-3P	100.00	73.18	2486
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-5002-5P	99.76	70.84	1763
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-5004-3P	99.54	68.27	1371
HSA-MIR-105-5P	99.54	69.24	2060
HSA-MIR-7853-5P	99.54	69.30	2055
HSA-MIR-653-5P	99.46	67.35	1300
HSA-MIR-183-3P	99.41	69.41	1598
HSA-MIR-372-5P	99.41	69.11	2299
HSA-MIR-4797-5P	99.39	68.01	1354
HSA-MIR-149-5P	99.25	67.16	1315
HSA-MIR-6510-5P	99.14	66.59	1081

Functional genomics

gnomAD constraint: pLI 2.55e-15, LOEUF 0.974, missense Z 0.814 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000241305 — one region, missense o/e 0.92.

Literature-anchored findings (GeneRIF, showing 5)

• Performance metrics were used to select SNPs in stage 1, which were then genotyped to another dataset (stage 2). Four SNPs (CPXM2 rs2362967, APOC1 rs4420638, ZNF521 rs7230380, and rs12965520) were identified for LOAD by both traditional P-values (without correcting for multiple tests) and performance metrics. (PMID:27805002)
• The Genetic variants located in CPXM2 have the potential to modulate disease course in MS patients and may be used as disease activity biomarkers to identify patients with divergent disease courses. (PMID:30217166)
• Results imply an active role for CPXM2 in promoting tumor aggressiveness via epithelial to mesenchymal transition (EMT) modulation in GCs. (PMID:31364750)
• imply an active role for Carboxypeptidase X, M14 family member 2 in promoting tumor aggressiveness via epithelial to mesenchymal transition (EMT) modulation in osteosarcoma (PMID:31651348)
• Cpxm2 as a novel candidate for cardiac hypertrophy and failure in hypertension. (PMID:34916661)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000117193
mus_musculus	Cpxm2	ENSMUSG00000030862
rattus_norvegicus	Cpxm2	ENSRNOG00000015902

Paralogs (7): CPXM1 (ENSG00000088882), AEBP1 (ENSG00000106624), CPD (ENSG00000108582), CPE (ENSG00000109472), CPZ (ENSG00000109625), CPN1 (ENSG00000120054), CPM (ENSG00000135678)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1926006) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 5 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal heart left ventricle morphology	1
decreased response of heart to induced stress	1
decreased heart rate	1
decreased physiological sensitivity to xenobiotic	1
abnormal heart left ventricle weight	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
Lophonetta specularioides	P83852	100.0%	Diamond
Anas platyrhynchos	Q90240	100.0%	Diamond
Pongo abelii	Q5R7K9	99.6%	Diamond
Pan troglodytes	A5A6K7	99.4%	Diamond
Macaca fascicularis	Q4R4M3	99.2%	Diamond
Oxyuranus microlepidotus	Q58L90	97.7%	Diamond
Oxyuranus scutellatus	Q58L91	97.7%	Diamond
Pseudonaja textilis	Q7SZN0	96.9%	Diamond
Canis lupus familiaris	Q0V8T0	93.2%	Diamond
Bos taurus	P04836	92.9%	Diamond
Sus scrofa	P79385	84.8%	Diamond
Lophius americanus	P37892	83.4%	Diamond
Gallus gallus	P79795	80.9%	Diamond
Xenopus laevis	P28824	74.4%	Diamond
Takifugu rubripes	Q9W6R5	67.0%	Diamond
Streptomyces griseus	P18143	57.7%	Diamond
Thermoactinomyces vulgaris	P29068	57.7%	Diamond
Drosophila melanogaster	P42787	52.1%	Diamond
Saccharothrix mutabilis subsp. capreolus	P39041	47.6%	Diamond
Caenorhabditis elegans	O17754	45.4%	Diamond
Arabidopsis thaliana	Q9M9H7	45.0%	Diamond
Bombyx mori	P98092	36.4%	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
CHST15	protein-coding	51363
LINC02641	ncRNA	105378531
CPXM2-AS1	ncRNA	105378533
GPR26	protein-coding	2849

Protein

Protein identifiers

Inactive carboxypeptidase-like protein X2 — Q8N436 (reviewed: Q8N436)

All UniProt accessions (2): Q49AT5, Q8N436

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in cell-cell interactions.

Subcellular location. Secreted.

Similarity. Belongs to the peptidase M14 family.

RefSeq proteins (1): NP_937791* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000421	FA58C	Domain
IPR000834	Peptidase_M14	Domain
IPR008969	CarboxyPept-like_regulatory	Homologous_superfamily
IPR008979	Galactose-bd-like_sf	Homologous_superfamily
IPR050753	Peptidase_M14_domain	Family
IPR057246	CARBOXYPEPT_ZN_1	Binding_site

Pfam: PF00246, PF00754, PF13620

UniProt features (15 total): glycosylation site 5, compositionally biased region 3, domain 2, signal peptide 1, chain 1, disulfide bond 1, sequence variant 1, region of interest 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N436-F1	82.58	0.67

Human Protein Atlas

Protein class: Enzymes, Peptidases, Metallopeptidases, Predicted secreted proteins, Predicted intracellular proteins, UniProt - Evidence at transcript level

Protein evidence: Evidence at protein level

Antibody reliability (HPA): IH uncertain

Functional residue map

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

Disulfide bonds (1)

Type	Positions
Disulfide bond	136–293

Glycosylation sites (5)

Type	Positions
N-linked (glcnac…) asparagine	281, 337, 491, 231, 241

Function

Pathways and Gene Ontology

Reactome pathways

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

MSigDB gene sets: 79 (showing top): GOMF_METALLOPEPTIDASE_ACTIVITY, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, LINDVALL_IMMORTALIZED_BY_TERT_DN, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, COWLING_MYCN_TARGETS, GOBP_PROTEOLYSIS, GOMF_CARBOXYPEPTIDASE_ACTIVITY, GOMF_METALLOEXOPEPTIDASE_ACTIVITY, GOMF_METALLOCARBOXYPEPTIDASE_ACTIVITY, GOMF_PEPTIDASE_ACTIVITY, GOMF_EXOPEPTIDASE_ACTIVITY, GSE13522_WT_VS_IFNG_KO_SKIN_DN, MEISSNER_NPC_HCP_WITH_H3K4ME2, MIKKELSEN_MEF_HCP_WITH_H3K27ME3, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A

GO Biological Process (1): proteolysis (GO:0006508)

GO Molecular Function (2): metallocarboxypeptidase activity (GO:0004181), zinc ion binding (GO:0008270)

GO Cellular Component (1): extracellular region (GO:0005576)

GO top-level categories

5 GO namespaces:

Category	Terms
protein metabolic process	1
carboxypeptidase activity	1
metalloexopeptidase activity	1
transition metal ion binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

showing 15 of 640 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CPXM2	AGTPBP1	Q9UPW5	624
CPXM2	AGBL4	Q5VU57	573
CPXM2	TTLL4	Q14679	548
CPXM2	GPR26	Q8NDV2	534
CPXM2	TTLL1	O95922	516
CPXM2	TTL	Q8NG68	497
CPXM2	TTLL7	Q6ZT98	465
CPXM2	HDDC2	Q7Z4H3	460
CPXM2	AGBL5	Q8NDL9	439
CPXM2	ARSI	Q5FYB1	433
CPXM2	FHIP1A	Q05DH4	426
CPXM2	TTLL6	Q8N841	423
CPXM2	TECTB	Q96PL2	399
CPXM2	TSEN15	Q8WW01	378
CPXM2	SPRY3	O43610	370

IntAct

Human interaction partners of CPXM2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

1 partners by confidence:

Partner	Interaction type	MIscore	Records
EDRF1	association	0.350	1

BioGRID (6 interactions; top human partners by supporting records): EDRF1 (Affinity Capture-MS), PARP16 (Proximity Label-MS), RAG1 (Proximity Label-MS), TRIM21 (Affinity Capture-MS), TRIM68 (Affinity Capture-MS), ZC3HAV1 (Proximity Label-MS)

Disease & clinical

Genetic variants

Variant evidence for CPXM2: 169 ClinVar records (0 pathogenic / likely pathogenic); 4 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	145
Likely benign	4
Benign	3

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 38 predictions of 1,580):

Position(s)	Effect	Δscore	Sites
10:123761874	donor_gain	1.0000
10:123766971–123766972	donor_loss	1.0000	5
10:123767029	donor_gain	1.0000
10:123798139	acceptor_gain	1.0000
10:123799113–123799114	donor_loss	1.0000	5
10:123799200–123799201	acceptor_loss	1.0000	6
10:123842366	donor_gain	1.0000
10:123862612–123862613	donor_loss	1.0000	6
10:123891354–123891355	donor_loss	1.0000	3
10:123754661–123754663	donor_loss	0.9900	9

AlphaMissense

1,859 missense substitutions predicted likely pathogenic (of 4,975 scored), across 443 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
D596	8	0.983	0.996
D544	8	0.968	0.991
F548	8	0.964	0.993
F456	8	0.959	0.995
D451	8	0.951	0.980
F510	8	0.946	0.991
H417	8	0.939	0.989
D232	8	0.932	0.979
H319	8	0.931	0.996
S230	8	0.930	0.999
H559	8	0.929	0.992
D198	8	0.927	0.972
F716	8	0.927	0.995
D425	8	0.924	0.976
F205	8	0.918	0.997
D528	8	0.914	0.977
H379	8	0.902	0.971
N169	8	0.901	0.995
H668	8	0.896	0.988
F248	8	0.895	0.966

HPA cancer prognostics

RNA cancer specificity: Cancer enriched (Kidney Chromophobe)

Disease associations

OMIM: gene MIM:617348 | disease phenotypes:

GWAS associations

4 associations:

Study	Trait	p-value
GCST90000025_600	Appendicular lean mass	3e-11
GCST008810_6	Smoking initiation (ever regular vs never regular)	8e-9
GCST003518_54	Daytime sleep phenotypes	3e-8
GCST002548_6	Ulcerative colitis	7e-6

EFO canonical traits (from GWAS)

3 canonical traits:

EFO ID	Trait name
EFO:0007828	daytime rest measurement
EFO:0005670	smoking initiation
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — M14: Carboxypeptidase A

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression, increases methylation, affects cotreatment	6
trichostatin A	affects cotreatment, increases expression	3
mercuric bromide	increases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
Panobinostat	increases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
propionaldehyde	decreases expression	1
2,3-pentanedione	decreases expression	1
sodium arsenite	increases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Benzo(a)pyrene	increases methylation, affects methylation	1
Calcitriol	decreases expression	1
Diethylhexyl Phthalate	increases expression	1
Doxorubicin	decreases expression	1
Estradiol	decreases reaction, increases expression	1
Lead	affects methylation	1
Oxygen	increases expression	1
Silicon Dioxide	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Triclosan	decreases expression	1
Cadmium Chloride	increases expression	1
Permethrin	decreases expression	1

Clinical trials (associated diseases)

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

12 trials:

NCT	Phase	Status	Title
NCT03414970	Phase 3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT00461344	Phase 2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	Phase 2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT00637364	Phase 1/2	SUSPENDED	High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain
NCT02779855	Phase 1/2	COMPLETED	Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer
NCT01753908	Early Phase 1	COMPLETED	Broccoli Sprout Extract in Treating Patients With Breast Cancer
NCT01796041	Early Phase 1	COMPLETED	Intraoperative Imaging of Breast Cancer With Indocyanine Green
NCT07628634	Early Phase 1	RECRUITING	Feasibility Study on the Effect of a Methionine-Reduced Diet on Serum Levels in Pts w/ Solid Tumors
NCT01208974	Not specified	COMPLETED	Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction
NCT01875198	Not specified	TERMINATED	Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer
NCT03543397	Not specified	UNKNOWN	MRI in Ductal Carcinoma in Situ (DCIS)
NCT03834532	Not specified	COMPLETED	Living Well After Breast Surgery