CPD

Summary

CPD (carboxypeptidase D, HGNC:2301) is a protein-coding gene on chromosome 17q11.2, encoding Carboxypeptidase D (O75976). Functions in the processing of proteins and peptides in the secretory pathway.

The metallocarboxypeptidase family of enzymes is divided into 2 subfamilies based on sequence similarities. The pancreatic carboxypeptidase-like and the regulatory B-type carboxypeptidase subfamilies. Carboxypeptidase D has been identified as a regulatory B-type carboxypeptidase. CPD is a homolog of duck gp180, a hepatitis B virus-binding protein. Transcript variants utilizing alternative polyadenylation signals exist for this gene.

Source: NCBI Gene 1362 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 174 total
• Druggable target: yes
• MANE Select transcript: NM_001304

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2301
Approved symbol	CPD
Name	carboxypeptidase D
Location	17q11.2
Locus type	gene with protein product
Status	Approved
Aliases	GP180
Ensembl gene	ENSG00000108582
Ensembl biotype	protein_coding
OMIM	603102
Entrez	1362

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 5 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000225719, ENST00000543464, ENST00000579502, ENST00000580396, ENST00000581826, ENST00000583275, ENST00000584050, ENST00000584051, ENST00000584221, ENST00000588977, ENST00000892708, ENST00000961764

RefSeq mRNA: 2 — MANE Select: NM_001304 NM_001199775, NM_001304

CCDS: CCDS11257, CCDS56025

Canonical transcript exons

ENST00000225719 — 21 exons

Exon	Start	End
ENSE00000708946	30443802	30443971
ENSE00000708954	30449553	30449748
ENSE00000708966	30461180	30461311
ENSE00000708968	30461877	30462062
ENSE00000708970	30462370	30462469
ENSE00001114338	30438975	30439077
ENSE00001114339	30431772	30431881
ENSE00001114341	30420841	30420983
ENSE00001114342	30427391	30427558
ENSE00001114343	30422674	30423023
ENSE00001114344	30384989	30385236
ENSE00001114345	30423506	30423697
ENSE00001114346	30421664	30421833
ENSE00001246229	30464588	30469989
ENSE00001311861	30378927	30379726
ENSE00003547172	30445691	30446020
ENSE00003604475	30442308	30442450
ENSE00003627501	30455339	30455470
ENSE00003639830	30451711	30451846
ENSE00003670585	30456256	30456351
ENSE00003687512	30456462	30456526

Expression profiles

Bgee: expression breadth ubiquitous, 298 present calls, max score 98.54.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.5411 / max 877.7806, expressed in 1814 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
160132	37.5216	1814
208120	0.0196	5

Top tissues by expression

301 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
parotid gland	UBERON:0001831	98.54	gold quality
islet of Langerhans	UBERON:0000006	96.51	gold quality
bronchial epithelial cell	CL:0002328	96.38	gold quality
epithelium of bronchus	UBERON:0002031	95.82	gold quality
bronchus	UBERON:0002185	95.79	gold quality
nasal cavity epithelium	UBERON:0005384	95.53	gold quality
calcaneal tendon	UBERON:0003701	95.17	gold quality
pancreatic ductal cell	CL:0002079	95.14	gold quality
nasal cavity mucosa	UBERON:0001826	94.97	gold quality
sperm	CL:0000019	94.81	gold quality
epithelial cell of pancreas	CL:0000083	94.63	gold quality
colonic epithelium	UBERON:0000397	94.03	gold quality
gall bladder	UBERON:0002110	94.01	gold quality
male germ cell	CL:0000015	93.61	gold quality
stromal cell of endometrium	CL:0002255	93.50	gold quality
palpebral conjunctiva	UBERON:0001812	93.43	gold quality
mucosa of paranasal sinus	UBERON:0005030	93.30	gold quality
trachea	UBERON:0003126	93.24	gold quality
jejunal mucosa	UBERON:0000399	93.15	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	92.69	gold quality
pylorus	UBERON:0001166	92.35	gold quality
blood	UBERON:0000178	92.34	gold quality
endothelial cell	CL:0000115	92.19	gold quality
corpus epididymis	UBERON:0004359	92.15	gold quality
choroid plexus epithelium	UBERON:0003911	91.96	gold quality
periodontal ligament	UBERON:0008266	91.95	gold quality
cartilage tissue	UBERON:0002418	91.94	gold quality
corpus callosum	UBERON:0002336	91.85	gold quality
right testis	UBERON:0004534	91.75	gold quality
left testis	UBERON:0004533	91.67	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.24
E-MTAB-6142	no	169.45

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

233 targeting CPD, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4262	100.00	73.26	3931
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-5696	99.98	72.36	4487
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-3148	99.97	75.06	6478

Literature-anchored findings (GeneRIF, showing 12)

• CPD releases C-terminal Arg from peptides to provide the precursor substrate for inducible nitric oxide synthase, which enhances nitric oxide synthesis in macrophages. (PMID:11306718)
• Palmitoylation of carboxypeptidase D has a role in intracellular trafficking (PMID:12643288)
• The isolation and characterization of CPD from several haematopoietic tumour cells are reported. (PMID:15918796)
• First report to demonstrate carboxypeptidase D as part of the transforming growth factor (TGF)-beta pathway as a TGF-beta target gene implicated in the pathogenesis of lupus erythematosus. (PMID:17641957)
• prolactin or E2 up-regulated CPD mRNA and protein expression in MCF-7 breast cancer cells promoting their survival (PMID:18535109)
• Either high glucose or insulin (with low glucose) up-regulates beta-cell CPD (but not CPE). (PMID:21628999)
• Carboxypeptidase D (CPD) is frequently upregulated in hepatocellular carcinoma; targeting CPD inhibits hepatocellular carcinoma cell proliferation through induction of G1 cell-cycle arrest and apoptosis. (PMID:23589395)
• Prolactin and R1881, acting through Stat5 and androgen receptor, act cooperatively to stimulate CPD gene transcription in breast cancer cells. (PMID:24433040)
• CPD immunostaining and testosterone/prolactin-stimulated CPD expression were higher in prostate cancer than benign tissues/cells. Elevated CPD increased NO production, which was abolished when both androgen and prolactin receptors were inhibited. (PMID:24615730)
• The human carboxypeptidase D transthyretin-like domain forms amyloid under physiological conditions. (PMID:25294878)
• Carboxypeptidase-D (CPD) overexpression coincides with high-grade lung cancer and the CPD overexpression could reverse the inhibitory effects of miR-214 (PMID:27494742)
• prolactin induction of VEGF-C and Runx2 was inhibited partly by Carboxypeptidase-D inhibitors, implicating nitric oxide , produced by PRL-regulated Carboxypeptidase-D, in breast cancer progression (PMID:28364216)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	cpdb	ENSDARG00000053877
danio_rerio	cpda	ENSDARG00000055648
mus_musculus	Cpd	ENSMUSG00000020841
rattus_norvegicus	Cpd	ENSRNOG00000003873
drosophila_melanogaster	svr	FBGN0004648
caenorhabditis_elegans	cpd-1	WBGENE00019074

Paralogs (7): CPXM1 (ENSG00000088882), AEBP1 (ENSG00000106624), CPE (ENSG00000109472), CPZ (ENSG00000109625), CPN1 (ENSG00000120054), CPXM2 (ENSG00000121898), CPM (ENSG00000135678)

Protein

Protein identifiers

Carboxypeptidase D — O75976 (reviewed: O75976)

Alternative names: Metallocarboxypeptidase D, gp180

All UniProt accessions (4): O75976, J3QQJ4, J3QRJ9, K7ELF0

UniProt curated annotations — full annotation on UniProt →

Function. Functions in the processing of proteins and peptides in the secretory pathway. Mechanistically, cleaves exclusively C-terminal basic residues. By removing terminal residues, can modulate the activity, stability, and receptor-binding properties of bioactive peptides. (Microbial infection) Acts as an alternative entry receptor for adeno-associated virus (AAV).

Subcellular location. Cell membrane.

Tissue specificity. Highly expressed in placenta, pancreas and hepatoma cells. Lower levels found in skeletal muscle, heart and colon carcinoma and melanoma cell lines.

Cofactor. Binds 2 Zn(2+) ions per subunit.

Domain organisation. There are 3 carboxypeptidase-like domains. Only the first two domains seem to have kept a catalytic activity.

Similarity. Belongs to the peptidase M14 family.

Isoforms (2)

UniProt ID	Names	Canonical?
O75976-1	1	yes
O75976-2	2

RefSeq proteins (2): NP_001186704, NP_001295* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000834	Peptidase_M14	Domain
IPR008969	CarboxyPept-like_regulatory	Homologous_superfamily
IPR033848	M14_CPD_III	Domain
IPR034224	M14_CPD_II	Domain
IPR050753	Peptidase_M14_domain	Family
IPR057246	CARBOXYPEPT_ZN_1	Binding_site
IPR057247	CARBOXYPEPT_ZN_2	Binding_site

Pfam: PF00246, PF13620

Enzyme classification (BRENDA):

• EC 3.4.17.22 — metallocarboxypeptidase D (BRENDA: 10 organisms, 25 substrates, 24 inhibitors, 37 Km, 25 kcat entries)

Substrate kinetics (BRENDA)

12 substrates with measured Km, best-characterized 12. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
DANSYL-PHE-ALA-ARG	0.012–0.844	12
DANSYL-PRO-ALA-ARG	0.0092–0.054	7
DANSYL-LEU-ALA-ARG	0.056–0.065	3
DANSYL-PHE-PHE-ARG	0.016–0.1	3
DANSYL-ALA-ARG	0.063–0.132	2
DANSYL-PHE-GLY-ARG	0.047–0.15	2
DANSYL-PHE-LEU-ARG	0.042–0.048	2
DANSYL-LEU-ARG	0.25	1
DANSYL-PHE-ILE-ARG	0.085	1
DANSYL-PHE-PRO-ARG	0.11	1
TYR-GLY-GLY-PHE-LEU-ARG	0.115	1
TYR-GLY-GLY-PHE-LEU-LYS	0.0305	1

UniProt features (66 total): glycosylation site 15, strand 7, binding site 6, modified residue 6, sequence variant 4, sequence conflict 4, region of interest 3, lipid moiety-binding region 3, domain 3, compositionally biased region 2, active site 2, topological domain 2, splice variant 2, mutagenesis site 2, signal peptide 1, chain 1, short sequence motif 1, transmembrane region 1, turn 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
5AQ0	X-RAY DIFFRACTION	0.95
9J7L	ELECTRON MICROSCOPY	2.89
9J6Z	ELECTRON MICROSCOPY	3.02

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75976-F1	83.14	0.57

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 (2): 350 (proton donor/acceptor); 762 (proton donor/acceptor)

Ligand- & substrate-binding residues (6): 139; 142; 257; 564; 567; 671

Post-translational modifications (9): 265, 270, 1358, 1361, 1368, 1370, 1317, 1321, 1323

Glycosylation sites (15): 172, 217, 399, 410, 429, 522, 626, 811, 855, 867, 879, 955, 978, 1070, 1142

Mutagenesis-validated functional residues (2):

Position	Phenotype
350	enzymatically inactive; when associated with q-762.
762	enzymatically inactive; when associated with q-350.

Function

Pathways and Gene Ontology

Reactome pathways

10 pathways

ID	Pathway
R-HSA-432722	Golgi Associated Vesicle Biogenesis
R-HSA-9696264	RND3 GTPase cycle
R-HSA-9696273	RND1 GTPase cycle
R-HSA-162582	Signal Transduction
R-HSA-194315	Signaling by Rho GTPases
R-HSA-199991	Membrane Trafficking
R-HSA-199992	trans-Golgi Network Vesicle Budding
R-HSA-5653656	Vesicle-mediated transport
R-HSA-9012999	RHO GTPase cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 381 (showing top): KOBAYASHI_EGFR_SIGNALING_24HR_UP, ACTACCT_MIR196A_MIR196B, GOMF_METALLOPEPTIDASE_ACTIVITY, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, MODULE_45, AAGCCAT_MIR135A_MIR135B, DITTMER_PTHLH_TARGETS_UP, IVANOVA_HEMATOPOIESIS_MATURE_CELL, MCBRYAN_PUBERTAL_TGFB1_TARGETS_UP, REACTOME_MEMBRANE_TRAFFICKING, MODULE_16, BONCI_TARGETS_OF_MIR15A_AND_MIR16_1, chr17q11, TTGGGAG_MIR150, PATIL_LIVER_CANCER

GO Biological Process (3): peptide metabolic process (GO:0006518), protein processing (GO:0016485), proteolysis (GO:0006508)

GO Molecular Function (8): metallocarboxypeptidase activity (GO:0004181), serine-type carboxypeptidase activity (GO:0004185), zinc ion binding (GO:0008270), carboxypeptidase activity (GO:0004180), peptidase activity (GO:0008233), metallopeptidase activity (GO:0008237), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)

GO Cellular Component (4): obsolete extracellular space (GO:0005615), plasma membrane (GO:0005886), membrane (GO:0016020), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
RHO GTPase cycle	2
trans-Golgi Network Vesicle Budding	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Vesicle-mediated transport	1
Membrane Trafficking	1
Signaling by Rho GTPases	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
carboxypeptidase activity	2
metabolic process	1
proteolysis	1
protein maturation	1
protein metabolic process	1
metalloexopeptidase activity	1
serine-type exopeptidase activity	1
transition metal ion binding	1
exopeptidase activity	1
hydrolase activity	1
catalytic activity, acting on a protein	1
peptidase activity	1
catalytic activity	1
cation binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1
extracellular vesicle	1

Protein interactions and networks

STRING

760 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CPD	SLC26A5	P58743	915
CPD	PACS1	Q6VY07	583
CPD	M6PR	P20645	567
CPD	PRSS36	Q5K4E3	535
CPD	SLC6A4	P31645	519
CPD	FURIN	P09958	509
CPD	KIAA0319L	Q8IZA0	507
CPD	TGOLN2	O43493	506
CPD	FAM91A1	Q658Y4	500
CPD	CD1D	P15813	494
CPD	ERVW-1	Q9UQF0	485
CPD	ERVFRD-1	P60508	481
CPD	ERV3-1	Q14264	481
CPD	EIPR1	Q53HC9	475
CPD	C17orf75	Q9HAS0	458

IntAct

107 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
DKKL1	DENND11	psi-mi:“MI:0914”(association)	0.640
DEFA1	MANBA	psi-mi:“MI:0914”(association)	0.530
ARRDC4	WWP2	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
LGALS1	PODXL	psi-mi:“MI:0914”(association)	0.530
TNF	B4GALT5	psi-mi:“MI:0914”(association)	0.530
CPD	AP1M1	psi-mi:“MI:0914”(association)	0.530
LGALS1	LAMA5	psi-mi:“MI:0914”(association)	0.530
GAST	ZZEF1	psi-mi:“MI:0914”(association)	0.530
IL1R2	EXOC5	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
MET	NDUFA4	psi-mi:“MI:2364”(proximity)	0.420
CPD		psi-mi:“MI:0915”(physical association)	0.370
AATF	CPD	psi-mi:“MI:0915”(physical association)	0.370
M2	AGPS	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
LAMP1	HAX1	psi-mi:“MI:0914”(association)	0.350
TNF	NRP1	psi-mi:“MI:0914”(association)	0.350
CPD	FOXK2	psi-mi:“MI:0914”(association)	0.350
CD81	STX3	psi-mi:“MI:0914”(association)	0.350
CD81	PVR	psi-mi:“MI:0914”(association)	0.350
CD81	CD276	psi-mi:“MI:0914”(association)	0.350
NS3	C15orf61	psi-mi:“MI:0914”(association)	0.350

BioGRID (270): CPD (Affinity Capture-MS), CPD (Affinity Capture-MS), CPD (Affinity Capture-MS), CPD (Proximity Label-MS), CPD (Proximity Label-MS), CPD (Proximity Label-MS), CPD (Affinity Capture-MS), UFSP2 (Affinity Capture-MS), FOXK2 (Affinity Capture-MS), CPD (Affinity Capture-MS), AP1M1 (Affinity Capture-MS), CPD (Affinity Capture-RNA), CPD (Affinity Capture-MS), CPD (Proximity Label-MS), CPD (Proximity Label-MS)

ESM2 similar proteins: A5A6K7, O17754, O54858, O75976, O89001, P04836, P14384, P15087, P15169, P16870, P21661, P23188, P23377, P28841, P29122, P37892, P38836, P42787, Q00493, Q0II73, Q16769, Q28193, Q2KIG3, Q2KJ83, Q4R4M3, Q4R7R2, Q5REC2, Q5RFD6, Q5U901, Q63415, Q66K79, Q80V42, Q8IVL8, Q8N436, Q8QGP3, Q8R4H4, Q8R4V4, Q8WXQ8, Q90240, Q96IY4

Diamond homologs: A1CSU3, A1DGH9, A2QZA2, A6RCF5, A6XGK3, A7EUC0, B0XRS8, B6H233, B6Q972, B6V865, B8JLQ9, B8M2K0, B8NBP9, B8XGR3, C0NM08, C0SAI5, C1GDH9, C1HE31, C4JEE1, C5FH26, C5FPR9, C5FVN6, C5G6U8, C5JZS0, C5PHW9, C6H4F1, D4AKU7, D4AS12, D4B5N0, D4D675, D4DIW7, D4DL57, E4UPZ6, E5A0U8, E9DD69, O02350, O74818, O75976, P04069, P09954

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 140 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Constitutive Signaling by Aberrant PI3K in Cancer	6	8.2×	7e-03
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	7	7.3×	7e-03
RAF/MAP kinase cascade	8	5.2×	7e-03
Neutrophil degranulation	13	3.2×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
peptidyl-tyrosine phosphorylation	6	21.8×	1e-04
cell surface receptor protein tyrosine kinase signaling pathway	9	13.5×	2e-05
protein autophosphorylation	8	10.0×	3e-04
positive regulation of neuron projection development	7	8.3×	4e-03
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	12	8.1×	2e-05
positive regulation of MAPK cascade	10	7.0×	4e-04
axon guidance	8	6.2×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	144
Likely benign	9
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

9047 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:30423669:T:A	N607K	1.000
17:30423669:T:G	N607K	1.000
17:30427445:G:C	R635P	1.000
17:30379386:G:C	G136R	0.999
17:30379391:C:A	N137K	0.999
17:30379391:C:G	N137K	0.999
17:30385007:T:A	N255K	0.999
17:30385007:T:G	N255K	0.999
17:30385011:C:G	H257D	0.999
17:30385032:A:C	S264R	0.999
17:30385034:C:A	S264R	0.999
17:30385034:C:G	S264R	0.999
17:30385223:G:C	W327C	0.999
17:30385223:G:T	W327C	0.999
17:30420852:G:C	D336H	0.999
17:30420853:A:C	D336A	0.999
17:30420853:A:T	D336V	0.999
17:30420944:G:C	W366C	0.999
17:30420944:G:T	W366C	0.999
17:30423534:T:A	N562K	0.999
17:30423534:T:G	N562K	0.999
17:30423542:G:A	G565E	0.999
17:30423542:G:T	G565V	0.999
17:30423548:A:T	E567V	0.999
17:30423578:T:C	L577P	0.999
17:30423676:G:T	G610W	0.999
17:30427422:C:A	N627K	0.999
17:30427422:C:G	N627K	0.999
17:30427436:A:G	D632G	0.999
17:30427443:C:A	N634K	0.999

dbSNP variants (sampled 300 via entrez): RS1000039223 (17:30455075 T>C), RS1000081517 (17:30434420 G>A), RS1000139534 (17:30447741 G>A), RS1000149770 (17:30397430 A>G), RS1000241630 (17:30383104 G>A,C), RS1000241837 (17:30411457 T>C), RS1000281498 (17:30390679 A>G), RS1000289545 (17:30429186 A>T), RS1000346427 (17:30411948 T>G), RS1000348778 (17:30389653 C>T), RS1000355630 (17:30391168 G>A), RS1000392127 (17:30383588 G>A), RS1000422416 (17:30389825 A>G), RS1000423712 (17:30430587 A>G), RS1000477343 (17:30430954 G>A,T)

Disease associations

OMIM: gene MIM:603102 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4523154 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

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

Target class: enzyme — M14: Carboxypeptidase A

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	affects expression, decreases expression, increases expression	3
bisphenol A	increases expression	2
trichostatin A	affects cotreatment, decreases expression	2
sodium arsenite	decreases expression, increases abundance, increases expression	2
Fluorouracil	affects reaction, decreases expression, affects response to substance	2
Valproic Acid	increases expression	2
Aflatoxin B1	affects expression, decreases methylation	2
FR900359	affects phosphorylation	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
deoxynivalenol	decreases expression	1
sodium arsenate	decreases expression	1
sulforaphane	increases expression	1
butyraldehyde	decreases expression	1
ochratoxin A	increases expression	1
nivalenol	decreases expression	1
isobutyl alcohol	affects cotreatment, decreases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	decreases ADP-ribosylation	1
CGP 52608	affects binding, increases reaction	1
chloropicrin	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	affects expression	1
jinfukang	decreases expression	1
gardiquimod	increases expression, decreases reaction	1
Resveratrol	affects cotreatment, increases expression	1
Zoledronic Acid	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4413966	Binding	Inhibition of human CPD at 1 nM to 1 mM using AAFA as substrate preincubated for 45 mins to 2 hrs measured at 30 sec intervals for 15 mins by UV/vis-spectrophotometry	Synthesis and Structural/Functional Characterization of Selective M14 Metallocarboxypeptidase Inhibitors Based on Phosphinic Pseudopeptide Scaffold: Implications on the Design of Specific Optical Probes. — J Med Chem

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.