MATCAP2

Summary

MATCAP2 (microtubule associated tyrosine carboxypeptidase 2, HGNC:22206) is a protein-coding gene on chromosome 7p14.2, encoding Putative tyrosine carboxypeptidase MATCAP2 (Q8NCT3). Putative tyrosine carboxypeptidase.

Predicted to enable carboxypeptidase activity; metal ion binding activity; and metallopeptidase activity. Predicted to be involved in proteolysis.

Source: NCBI Gene 23366 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 53 total
• MANE Select transcript: NM_001199706

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22206
Approved symbol	MATCAP2
Name	microtubule associated tyrosine carboxypeptidase 2
Location	7p14.2
Locus type	gene with protein product
Status	Approved
Aliases	TMCP2
Ensembl gene	ENSG00000164542
Ensembl biotype	protein_coding
OMIM	619896
Entrez	23366

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 10 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000297063, ENST00000317020, ENST00000338533, ENST00000415803, ENST00000429651, ENST00000431396, ENST00000436884, ENST00000440378, ENST00000453212, ENST00000480192, ENST00000483360, ENST00000483526, ENST00000493327, ENST00000854123

RefSeq mRNA: 6 — MANE Select: NM_001199706 NM_001100425, NM_001199706, NM_001199707, NM_001199708, NM_001300956, NM_015314

CCDS: CCDS43570, CCDS47573, CCDS56482, CCDS56483, CCDS56484, CCDS75583

Canonical transcript exons

ENST00000440378 — 7 exons

Exon	Start	End
ENSE00001085345	36330982	36331079
ENSE00001783169	36324152	36326918
ENSE00003462853	36336154	36336297
ENSE00003498321	36366916	36367240
ENSE00003513695	36356902	36357590
ENSE00003573895	36333856	36334161
ENSE00003637857	36335046	36335178

Expression profiles

Bgee: expression breadth ubiquitous, 249 present calls, max score 90.21.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.6192 / max 136.1671, expressed in 1243 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
83567	7.4096	1207
83568	0.2096	106

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
choroid plexus epithelium	UBERON:0003911	90.21	gold quality
bronchial epithelial cell	CL:0002328	88.69	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.67	gold quality
germinal epithelium of ovary	UBERON:0001304	87.26	gold quality
cortical plate	UBERON:0005343	87.16	gold quality
adrenal tissue	UBERON:0018303	85.11	gold quality
islet of Langerhans	UBERON:0000006	84.95	gold quality
mucosa of paranasal sinus	UBERON:0005030	84.78	gold quality
pigmented layer of retina	UBERON:0001782	83.59	gold quality
cerebellar cortex	UBERON:0002129	83.49	gold quality
cerebellar hemisphere	UBERON:0002245	83.45	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.39	gold quality
cerebellum	UBERON:0002037	83.28	gold quality
epithelium of bronchus	UBERON:0002031	82.80	gold quality
right testis	UBERON:0004534	82.71	gold quality
testis	UBERON:0000473	82.22	gold quality
left testis	UBERON:0004533	82.07	gold quality
bronchus	UBERON:0002185	81.78	gold quality
right hemisphere of cerebellum	UBERON:0014890	81.78	gold quality
pancreas	UBERON:0001264	80.51	gold quality
body of stomach	UBERON:0001161	80.40	gold quality
right adrenal gland cortex	UBERON:0035827	80.36	gold quality
right adrenal gland	UBERON:0001233	79.69	gold quality
body of pancreas	UBERON:0001150	79.39	gold quality
left adrenal gland	UBERON:0001234	79.34	gold quality
cerebellar vermis	UBERON:0004720	79.07	gold quality
stomach	UBERON:0000945	79.00	gold quality
adrenal gland	UBERON:0002369	78.72	gold quality
left adrenal gland cortex	UBERON:0035825	78.66	gold quality
adrenal cortex	UBERON:0001235	78.55	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-GEOD-110499	no	20.74
E-ANND-3	no	6.16

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

120 targeting MATCAP2, 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-340-5P	100.00	72.50	4437
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-548AR-5P	99.94	71.28	3515

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	matcap2	ENSDARG00000057227
mus_musculus	Matcap2	ENSMUSG00000036411
rattus_norvegicus	Matcap2	ENSRNOG00000026979

Paralogs (1): MATCAP1 (ENSG00000196123)

Protein

Protein identifiers

Putative tyrosine carboxypeptidase MATCAP2 — Q8NCT3 (reviewed: Q8NCT3)

All UniProt accessions (4): C9JGM1, C9JWZ6, E9PE22, Q8NCT3

UniProt curated annotations — full annotation on UniProt →

Function. Putative tyrosine carboxypeptidase.

Cofactor. Binds 1 zinc ion per subunit.

Domain organisation. Putative metalloprotease with an atypical HExxxH zinc-binding motif instead of HExxH, which interrupts the active site-containing helix without affecting the integrity of the catalytic site arrangement.

Isoforms (6)

UniProt ID	Names	Canonical?
Q8NCT3-1	1	yes
Q8NCT3-2	2
Q8NCT3-3	3
Q8NCT3-4	4
Q8NCT3-5	5
Q8NCT3-6	6

RefSeq proteins (6): NP_001093895, NP_001186635, NP_001186636, NP_001186637, NP_001287885, NP_056129 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012548	MATCAP	Family

Pfam: PF08014

UniProt features (13 total): splice variant 5, binding site 3, sequence conflict 2, chain 1, region of interest 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NCT3-F1	59.68	0.23

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): 332 (nucleophile)

Ligand- & substrate-binding residues (3): 331; 336; 367

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 108 (showing top): GOMF_METALLOPEPTIDASE_ACTIVITY, BROWNE_HCMV_INFECTION_12HR_UP, WANG_LMO4_TARGETS_DN, ZHAN_MULTIPLE_MYELOMA_LB_UP, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_DN, GOBP_PROTEOLYSIS, WILCOX_RESPONSE_TO_PROGESTERONE_UP, MORF_FRK, GOMF_CARBOXYPEPTIDASE_ACTIVITY, GOMF_PEPTIDASE_ACTIVITY, GOMF_EXOPEPTIDASE_ACTIVITY, HUTTMANN_B_CLL_POOR_SURVIVAL_UP, CHYLA_CBFA2T3_TARGETS_DN, FOSTER_KDM1A_TARGETS_UP

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

GO Molecular Function (5): carboxypeptidase activity (GO:0004180), metallopeptidase activity (GO:0008237), metal ion binding (GO:0046872), peptidase activity (GO:0008233), hydrolase activity (GO:0016787)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein metabolic process	1
exopeptidase activity	1
peptidase activity	1
cation binding	1
hydrolase activity	1
catalytic activity, acting on a protein	1
catalytic activity	1

Protein interactions and networks

STRING

208 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MATCAP2	CLHC1	Q8NHS4	475
MATCAP2	ZBTB39	O15060	458
MATCAP2	MROH6	A6NGR9	445
MATCAP2	TMEM200B	Q69YZ2	417
MATCAP2	CCSER2	Q9H7U1	412
MATCAP2	PCDHGA7	Q9Y5G6	407
MATCAP2	RNF182	Q8N6D2	380
MATCAP2	RP1	P56715	370
MATCAP2	ZFYVE28	Q9HCC9	370
MATCAP2	ZNF385D	Q9H6B1	349
MATCAP2	PCDHB14	Q9Y5E9	348
MATCAP2	DHX35	Q9H5Z1	338
MATCAP2	CWH43	Q9H720	331
MATCAP2	ABLIM2	Q6H8Q1	329
MATCAP2	FIGNL1	Q6PIW4	324

IntAct

8 interactions, top by confidence:

A	B	Type	Score
MATCAP2	SHMT2	psi-mi:“MI:0915”(physical association)	0.400
MATCAP2	ATP6V1A	psi-mi:“MI:0915”(physical association)	0.400
PIPSL	C1orf226	psi-mi:“MI:0914”(association)	0.350
FTL	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
KCNE3	PIK3R2	psi-mi:“MI:0914”(association)	0.350
CAMK2A	SMCHD1	psi-mi:“MI:0914”(association)	0.350
MATCAP2	PRKAR2B	psi-mi:“MI:0914”(association)	0.350

BioGRID (13): KIAA0895 (Proximity Label-MS), KIAA0895 (Proximity Label-MS), KIAA0895 (Affinity Capture-MS), KIAA0895 (Affinity Capture-MS), MICAL1 (Affinity Capture-MS), PRKAR2B (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS), EFR3B (Affinity Capture-MS), KIAA0895 (Affinity Capture-MS), ACTA2 (Affinity Capture-MS), KIAA0895 (Affinity Capture-MS), KIAA0895 (Cross-Linking-MS (XL-MS)), KIAA0895 (Affinity Capture-RNA)

ESM2 similar proteins: A8MR21, B2RXH8, B7ZW38, F4JGB7, F4K3M6, O60812, O82312, O82387, O82391, P0DMR1, P83946, P93422, P93831, Q0DZT4, Q0WVE8, Q10MI4, Q149N8, Q3ED78, Q5RBK9, Q5VN06, Q66GQ6, Q680I0, Q6K1U0, Q6K1U4, Q6K5I0, Q6NKT5, Q7TP98, Q7X7E9, Q7ZXY4, Q84JE8, Q84UI6, Q8GW46, Q8GYY5, Q8GZ42, Q8L925, Q8N9N2, Q8NCT3, Q8RXT5, Q8S4P4, Q8S4P5

Diamond homologs: Q4V7A9, Q68EN5, Q7TQE7, Q810A5, Q8NCT3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1288 predictions. Top by Δscore:

Variant	Effect	Δscore
7:36326914:GAAAC:G	acceptor_gain	1.0000
7:36326916:AAC:A	acceptor_gain	1.0000
7:36326917:AC:A	acceptor_gain	1.0000
7:36326918:CC:C	acceptor_gain	1.0000
7:36326919:C:CC	acceptor_gain	1.0000
7:36326919:CTGA:C	acceptor_loss	1.0000
7:36331076:CACC:C	acceptor_gain	1.0000
7:36331078:CC:C	acceptor_gain	1.0000
7:36331079:CC:C	acceptor_gain	1.0000
7:36331080:C:CA	acceptor_loss	1.0000
7:36331081:T:C	acceptor_loss	1.0000
7:36334062:T:TA	donor_gain	1.0000
7:36334087:G:C	donor_gain	1.0000
7:36335040:CCCTA:C	donor_loss	1.0000
7:36335041:CCTAC:C	donor_loss	1.0000
7:36335042:CTACC:C	donor_loss	1.0000
7:36335043:TACCT:T	donor_loss	1.0000
7:36335044:ACCTA:A	donor_loss	1.0000
7:36335045:CC:C	donor_loss	1.0000
7:36335175:CAAT:C	acceptor_gain	1.0000
7:36335179:C:CC	acceptor_gain	1.0000
7:36336128:T:TA	donor_gain	1.0000
7:36336156:C:A	donor_gain	1.0000
7:36336170:T:A	donor_gain	1.0000
7:36336186:T:TA	donor_gain	1.0000
7:36336187:C:A	donor_gain	1.0000
7:36336294:TAGA:T	acceptor_gain	1.0000
7:36336298:C:CC	acceptor_gain	1.0000
7:36390041:GGAG:G	donor_gain	1.0000
7:36390042:GAG:G	donor_gain	1.0000

AlphaMissense

3413 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:36330987:C:A	G467W	1.000
7:36331066:T:A	K440N	1.000
7:36331066:T:G	K440N	1.000
7:36331067:T:A	K440I	1.000
7:36333907:A:G	W419R	1.000
7:36333907:A:T	W419R	1.000
7:36334120:A:G	W348R	1.000
7:36334120:A:T	W348R	1.000
7:36335051:T:A	E332V	1.000
7:36335055:G:C	H331D	1.000
7:36335060:A:G	L329P	1.000
7:36335108:A:G	L313P	1.000
7:36326851:A:G	F491S	0.999
7:36330986:C:A	G467V	0.999
7:36330986:C:T	G467E	0.999
7:36330987:C:G	G467R	0.999
7:36330987:C:T	G467R	0.999
7:36331046:C:T	G447E	0.999
7:36331056:A:G	Y444H	0.999
7:36331064:T:A	D441V	0.999
7:36331064:T:G	D441A	0.999
7:36331065:C:G	D441H	0.999
7:36331068:T:C	K440E	0.999
7:36331068:T:G	K440Q	0.999
7:36333879:C:T	G428E	0.999
7:36333881:C:A	R427S	0.999
7:36333881:C:G	R427S	0.999
7:36333882:C:A	R427M	0.999
7:36333882:C:G	R427T	0.999
7:36333884:C:A	K426N	0.999

dbSNP variants (sampled 300 via entrez): RS1000045276 (7:36352201 G>A), RS1000120734 (7:36336367 G>A), RS1000137945 (7:36351859 T>C), RS1000180882 (7:36364195 C>T), RS1000228810 (7:36378325 A>C), RS1000263842 (7:36390780 G>T), RS1000267598 (7:36345018 G>A), RS1000402374 (7:36337830 G>C), RS1000405844 (7:36336619 C>G), RS1000447520 (7:36384835 A>G), RS1000521120 (7:36365428 A>C), RS1000637729 (7:36364041 AC>A), RS1000641364 (7:36329786 T>C), RS1000667939 (7:36372509 A>G), RS1000683322 (7:36363848 T>A)

Disease associations

OMIM: gene MIM:619896 | disease phenotypes: MIM:610852

GenCC curated gene-disease

Mondo (1): primary ciliary dyskinesia 6 (MONDO:0012571)

Orphanet (1): Primary ciliary dyskinesia (Orphanet:244)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C567057	Ciliary Dyskinesia, Primary, 6 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	7
trichostatin A	affects expression, increases expression	2
Benzo(a)pyrene	increases expression, increases methylation	2
methylmercuric chloride	decreases expression	1
bisphenol A	decreases methylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, decreases expression	1
Cadmium	increases expression, decreases reaction	1
Cisplatin	decreases expression, affects cotreatment	1
Doxorubicin	decreases expression	1
Progesterone	increases expression	1
Selenium	decreases reaction, increases expression	1
Silicon Dioxide	increases expression	1
Tetrachlorodibenzodioxin	increases expression	1
Tobacco Smoke Pollution	affects expression	1
Magnetite Nanoparticles	increases methylation	1

Clinical trials (associated diseases)

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