TMPRSS7

Summary

TMPRSS7 (transmembrane serine protease 7, HGNC:30846) is a protein-coding gene on chromosome 3q13.2, encoding Transmembrane protease serine 7 (Q7RTY8). Serine protease which preferentially hydrolyzes peptides with Arg at the P1 position.

Predicted to enable serine-type peptidase activity. Predicted to be involved in proteolysis. Predicted to be active in plasma membrane.

Source: NCBI Gene 344805 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 138 total
• MANE Select transcript: NM_001395507

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30846
Approved symbol	TMPRSS7
Name	transmembrane serine protease 7
Location	3q13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000176040
Ensembl biotype	protein_coding
Entrez	344805

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 nonsense_mediated_decay

ENST00000419127, ENST00000435737, ENST00000452346, ENST00000460599, ENST00000617607

RefSeq mRNA: 3 — MANE Select: NM_001395507 NM_001042575, NM_001366279, NM_001395507

CCDS: CCDS43129, CCDS93340

Canonical transcript exons

ENST00000452346 — 18 exons

Exon	Start	End
ENSE00001756890	112038072	112038321
ENSE00001948999	112046974	112047012
ENSE00002340527	112044255	112044322
ENSE00002348873	112045750	112045943
ENSE00003459239	112076876	112077144
ENSE00003468501	112050671	112050783
ENSE00003471142	112061787	112061923
ENSE00003489271	112074296	112074412
ENSE00003513421	112078742	112078878
ENSE00003541171	112041920	112042050
ENSE00003545441	112066392	112066502
ENSE00003580827	112063525	112063632
ENSE00003621621	112057025	112057131
ENSE00003625444	112075321	112075492
ENSE00003638578	112049844	112049974
ENSE00003791485	112047739	112047967
ENSE00003978217	112080914	112081269
ENSE00003978218	112034736	112034893

Expression profiles

Bgee: expression breadth broad, 52 present calls, max score 80.38.

Top tissues by expression

119 total, 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	80.38	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	60.09	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	56.91	gold quality
right uterine tube	UBERON:0001302	51.95	gold quality
testis	UBERON:0000473	48.17	gold quality
duodenum	UBERON:0002114	47.88	silver quality
left testis	UBERON:0004533	47.24	gold quality
sural nerve	UBERON:0015488	45.39	gold quality
ventricular zone	UBERON:0003053	44.80	gold quality
pituitary gland	UBERON:0000007	44.33	gold quality
adenohypophysis	UBERON:0002196	44.02	gold quality
right testis	UBERON:0004534	43.07	gold quality
skin of abdomen	UBERON:0001416	42.95	gold quality
prefrontal cortex	UBERON:0000451	42.59	gold quality
ganglionic eminence	UBERON:0004023	41.82	gold quality
zone of skin	UBERON:0000014	41.52	silver quality
cortical plate	UBERON:0005343	41.17	gold quality
body of stomach	UBERON:0001161	40.51	gold quality
fallopian tube	UBERON:0003889	40.43	gold quality
skin of leg	UBERON:0001511	40.39	silver quality
stomach	UBERON:0000945	39.63	gold quality
cerebellar cortex	UBERON:0002129	39.37	silver quality
cerebellar hemisphere	UBERON:0002245	39.32	silver quality
cerebellum	UBERON:0002037	39.31	silver quality
stromal cell of endometrium	CL:0002255	39.07	gold quality
frontal cortex	UBERON:0001870	38.82	gold quality
rectum	UBERON:0001052	37.80	silver quality
islet of Langerhans	UBERON:0000006	37.63	gold quality
lower esophagus mucosa	UBERON:0035834	37.47	gold quality
gall bladder	UBERON:0002110	37.46	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.54
E-MTAB-6058	no	7.91

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

13 targeting TMPRSS7, 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-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-4803	99.98	71.99	3117
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-6832-5P	99.58	64.82	1132
HSA-MIR-217-5P	99.49	69.93	1419
HSA-MIR-6807-3P	99.15	69.23	1275
HSA-MIR-548L	99.06	70.90	2560
HSA-MIR-552-3P	96.68	64.12	1026
HSA-MIR-6821-3P	95.21	66.79	578
HSA-MIR-6790-3P	88.15	62.55	113

Literature-anchored findings (GeneRIF, showing 1)

• Single nucleotide polymorphism in TMPRSS7(rs2399403) is significantly associated with breast cancer risk. (PMID:25029565)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmprss7	ENSDARG00000116575
mus_musculus	Tmprss7	ENSMUSG00000033177
rattus_norvegicus	Tmprss7	ENSRNOG00000002145
drosophila_melanogaster	Sb	FBGN0003319
drosophila_melanogaster	CG17242	FBGN0250841

Paralogs (17): PRSS22 (ENSG00000005001), PRSS21 (ENSG00000007038), TMPRSS11E (ENSG00000087128), HPN (ENSG00000105707), TMPRSS13 (ENSG00000137747), ST14 (ENSG00000149418), TMPRSS11D (ENSG00000153802), TMPRSS15 (ENSG00000154646), TMPRSS3 (ENSG00000160183), TMPRSS5 (ENSG00000166682), TMPRSS9 (ENSG00000178297), TMPRSS2 (ENSG00000184012), TMPRSS11B (ENSG00000185873), TMPRSS6 (ENSG00000187045), TMPRSS11A (ENSG00000187054), TMPRSS11F (ENSG00000198092), PRSS41 (ENSG00000215148)

Protein

Protein identifiers

Transmembrane protease serine 7 — Q7RTY8 (reviewed: Q7RTY8)

Alternative names: Matriptase-3

All UniProt accessions (3): Q7RTY8, F8WCZ2, G3V1W5

UniProt curated annotations — full annotation on UniProt →

Function. Serine protease which preferentially hydrolyzes peptides with Arg at the P1 position.

Subunit / interactions. Forms a heterodimer with SERPINA5.

Subcellular location. Cell membrane.

Tissue specificity. Expressed in brain, ovary, testis, salivary gland, trachea and lung.

Post-translational modifications. N-glycosylated.

Similarity. Belongs to the peptidase S1 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q7RTY8-1	1	yes
Q7RTY8-2	2
Q7RTY8-3	3

RefSeq proteins (3): NP_001036040, NP_001353208, NP_001382436* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000082	SEA_dom	Domain
IPR000859	CUB_dom	Domain
IPR001254	Trypsin_dom	Domain
IPR001314	Peptidase_S1A	Family
IPR002172	LDrepeatLR_classA_rpt	Repeat
IPR009003	Peptidase_S1_PA	Homologous_superfamily
IPR018114	TRYPSIN_HIS	Active_site
IPR023415	LDLR_class-A_CS	Conserved_site
IPR033116	TRYPSIN_SER	Active_site
IPR035914	Sperma_CUB_dom_sf	Homologous_superfamily
IPR036055	LDL_receptor-like_sf	Homologous_superfamily
IPR036364	SEA_dom_sf	Homologous_superfamily
IPR043504

Pfam: PF00057, PF00089, PF00431, PF01390

UniProt features (35 total): disulfide bond 14, domain 7, splice variant 4, active site 3, topological domain 2, chain 1, region of interest 1, compositionally biased region 1, transmembrane region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7RTY8-F1	80.70	0.44

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 (3): 646 (charge relay system); 694 (charge relay system); 790 (charge relay system)

Disulfide bonds (14): 247–273, 299–322, 365–396, 484–496, 491–509, 503–518, 525–544, 538–553, 559–571, 566–585, 579–594, 631–647, 730–796, 762–775

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 22 (showing top): ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, GOBP_PROTEIN_MATURATION, GOBP_PROTEOLYSIS, GOMF_PEPTIDASE_ACTIVITY, GOBP_PROTEIN_PROCESSING, RAO_BOUND_BY_SALL4_ISOFORM_B, GSE13522_CTRL_VS_T_CRUZI_Y_STRAIN_INF_SKIN_IFNG_KO_UP, PRDM5_TARGET_GENES, SOX10_TARGET_GENES, MIR302C_5P, MIR27A_3P_MIR27B_3P, MIR9985, chr3q13, DESCARTES_MAIN_FETAL_SATB2_LRRC7_POSITIVE_CELLS, DESCARTES_FETAL_LUNG_CILIATED_EPITHELIAL_CELLS

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

GO Molecular Function (5): serine-type endopeptidase activity (GO:0004252), serine-type peptidase activity (GO:0008236), protein binding (GO:0005515), peptidase activity (GO:0008233), hydrolase activity (GO:0016787)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein metabolic process	1
endopeptidase activity	1
serine-type peptidase activity	1
peptidase activity	1
serine hydrolase activity	1
binding	1
hydrolase activity	1
catalytic activity, acting on a protein	1
catalytic activity	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

408 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMPRSS7	SERPINC1	P01008	567
TMPRSS7	C3orf52	Q5BVD1	371
TMPRSS7	TMEM80	Q96HE8	355
TMPRSS7	ZNF674	Q2M3X9	317
TMPRSS7	BOP1	Q14137	316
TMPRSS7	SKIDA1	Q1XH10	312
TMPRSS7	CFAP57	Q96MR6	311
TMPRSS7	SERPINF2	P08697	307
TMPRSS7	SPINT1	O43278	307
TMPRSS7	SYT16	Q17RD7	298
TMPRSS7	GUCA1A	P43080	295
TMPRSS7	GUCA1C	O95843	278
TMPRSS7	TRAT1	Q6PIZ9	275
TMPRSS7	TAGLN3	Q9UI15	273
TMPRSS7	ZNF676	Q8N7Q3	272

IntAct

2 interactions, top by confidence:

A	B	Type	Score
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350

BioGRID (3): TMPRSS7 (Proximity Label-MS), TMPRSS7 (Cross-Linking-MS (XL-MS)), TMPRSS7 (Affinity Capture-MS)

ESM2 similar proteins: A0A182C2Z2, A0A1S4GMJ4, A6MFK8, B5G6G5, O15393, O60235, O70244, O96900, P00750, P05156, P11214, P19637, P25723, P29598, P79953, P81428, P82807, P83370, P86091, P97435, P98072, P98073, P98074, P98119, P98121, Q05589, Q14C59, Q17800, Q20176, Q4QXT9, Q58L93, Q58L94, Q5QSK2, Q5R5A4, Q5R8J0, Q61129, Q66TN7, Q6DIV5, Q6IE14, Q6ZMR5

Diamond homologs: A0A182C2Z2, B8V7S0, O08762, O60235, P00747, P00760, P00762, P00765, P00766, P00767, P00774, P03951, P03952, P04070, P04813, P05981, P06867, P06871, P06872, P07146, P07338, P07477, P08217, P08426, P08519, P12545, P14272, P15944, P17538, P19799, P20231, P20918, P26262, P27435, P29786, P35033, P40313, P47796, P50342, P56677

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	120
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2911 predictions. Top by Δscore:

Variant	Effect	Δscore
3:112042005:G:GT	donor_gain	1.0000
3:112042015:G:T	donor_gain	1.0000
3:112042048:GTG:G	donor_gain	1.0000
3:112045748:A:AG	acceptor_gain	1.0000
3:112045749:G:GA	acceptor_gain	1.0000
3:112045749:GC:G	acceptor_gain	1.0000
3:112045749:GCA:G	acceptor_gain	1.0000
3:112045749:GCAGC:G	acceptor_gain	1.0000
3:112045908:G:T	donor_gain	1.0000
3:112047964:ACAG:A	donor_loss	1.0000
3:112047965:CAGGT:C	donor_loss	1.0000
3:112047966:AG:A	donor_loss	1.0000
3:112047967:GGT:G	donor_loss	1.0000
3:112047968:GTAC:G	donor_loss	1.0000
3:112047969:T:A	donor_loss	1.0000
3:112064904:TCCA:T	donor_gain	1.0000
3:112074413:G:GG	donor_gain	1.0000
3:112078728:AAT:A	acceptor_gain	1.0000
3:112078730:T:TA	acceptor_gain	1.0000
3:112078732:T:TA	acceptor_gain	1.0000
3:112078738:GCAG:G	acceptor_loss	1.0000
3:112078740:A:AG	acceptor_gain	1.0000
3:112078740:A:C	acceptor_loss	1.0000
3:112078741:G:GA	acceptor_gain	1.0000
3:112078741:GAT:G	acceptor_gain	1.0000
3:112078741:GATA:G	acceptor_gain	1.0000
3:112078860:C:T	donor_gain	1.0000
3:112078874:GCAAA:G	donor_gain	1.0000
3:112078877:AAGTA:A	donor_loss	1.0000
3:112078879:G:A	donor_loss	1.0000

AlphaMissense

5531 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:112081054:G:C	W834C	0.999
3:112081054:G:T	W834C	0.999
3:112050727:A:C	S383R	0.998
3:112050729:C:A	S383R	0.998
3:112050729:C:G	S383R	0.998
3:112057112:T:A	W431R	0.998
3:112057112:T:C	W431R	0.998
3:112063548:T:A	C491S	0.998
3:112063549:G:C	C491S	0.998
3:112063602:T:A	C509S	0.998
3:112063603:G:C	C509S	0.998
3:112063604:C:G	C509W	0.998
3:112047865:G:C	R286P	0.997
3:112063548:T:C	C491R	0.997
3:112063550:C:G	C491W	0.997
3:112063602:T:C	C509R	0.997
3:112081052:T:A	W834R	0.997
3:112081052:T:C	W834R	0.997
3:112047868:T:C	L287P	0.996
3:112047919:T:C	L304P	0.996
3:112057053:T:C	L411P	0.996
3:112063603:G:A	C509Y	0.996
3:112075455:T:A	W640R	0.996
3:112075455:T:C	W640R	0.996
3:112041955:G:T	G112W	0.995
3:112050774:G:C	W398C	0.995
3:112050774:G:T	W398C	0.995
3:112057114:G:C	W431C	0.995
3:112057114:G:T	W431C	0.995
3:112063603:G:T	C509F	0.995

dbSNP variants (sampled 300 via entrez): RS1000007863 (3:112081694 G>T), RS1000065862 (3:112059933 C>T), RS1000148105 (3:112036773 G>A), RS1000297756 (3:112054535 A>G), RS1000356221 (3:112080077 A>C), RS1000413375 (3:112076433 T>C), RS1000458059 (3:112036418 A>T), RS1000472420 (3:112074766 A>C), RS1000479035 (3:112036136 T>G), RS1000566063 (3:112058760 C>A,T), RS1000590976 (3:112053198 C>A,T), RS1000598379 (3:112076133 G>A), RS1000620723 (3:112052854 A>G), RS1000646229 (3:112080910 G>A,T), RS1000702616 (3:112075120 T>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST002336_7	Telomere length	5.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, decreases expression	2
propionaldehyde	increases expression	1
butyraldehyde	increases expression	1
pentanal	increases expression	1
jinfukang	affects cotreatment, increases expression	1
theaflavin-3,3’-digallate	affects expression	1
Aldehydes	increases expression	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	affects cotreatment, increases expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

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