Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	5651
Gene name	Transmembrane serine protease 15
Gene symbol	TMPRSS15
Synonyms (NCBI Gene)	ENTKPRSS7
Chromosome	21
Chromosome location	21q21.1
Summary	This gene encodes an enzyme that converts the pancreatic proenzyme trypsinogen to trypsin, which activates other proenzymes including chymotrypsinogen and procarboxypeptidases. The precursor protein is cleaved into two chains that form a heterodimer linke

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs77200626	G>C	Pathogenic	Coding sequence variant, stop gained
rs121908059	G>A	Pathogenic	Coding sequence variant, stop gained
rs121908060	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs138221037	A>C	Pathogenic	Splice donor variant
rs780802518	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555909961	AGTGC>-	Likely-pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (36)

miRTarBase ID	miRNA	Experiments	Reference
MIRT450379	hsa-miR-548c-3p	PAR-CLIP	22100165
MIRT447394	hsa-miR-654-3p	PAR-CLIP	22100165
MIRT447393	hsa-miR-3920	PAR-CLIP	22100165
MIRT447392	hsa-miR-29a-5p	PAR-CLIP	22100165
MIRT447391	hsa-miR-873-3p	PAR-CLIP	22100165
MIRT447390	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447389	hsa-miR-3672	PAR-CLIP	22100165
MIRT447387	hsa-miR-6864-3p	PAR-CLIP	22100165
MIRT447388	hsa-miR-578	PAR-CLIP	22100165
MIRT447394	hsa-miR-654-3p	PAR-CLIP	22100165
MIRT447393	hsa-miR-3920	PAR-CLIP	22100165
MIRT447392	hsa-miR-29a-5p	PAR-CLIP	22100165
MIRT447391	hsa-miR-873-3p	PAR-CLIP	22100165
MIRT447390	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447389	hsa-miR-3672	PAR-CLIP	22100165
MIRT447387	hsa-miR-6864-3p	PAR-CLIP	22100165
MIRT447388	hsa-miR-578	PAR-CLIP	22100165
MIRT450379	hsa-miR-548c-3p	PAR-CLIP	22100165
MIRT447394	hsa-miR-654-3p	PAR-CLIP	22100165
MIRT447393	hsa-miR-3920	PAR-CLIP	22100165
MIRT447392	hsa-miR-29a-5p	PAR-CLIP	22100165
MIRT447391	hsa-miR-873-3p	PAR-CLIP	22100165
MIRT447390	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447389	hsa-miR-3672	PAR-CLIP	22100165
MIRT447387	hsa-miR-6864-3p	PAR-CLIP	22100165
MIRT447388	hsa-miR-578	PAR-CLIP	22100165
MIRT447394	hsa-miR-654-3p	PAR-CLIP	22100165
MIRT447393	hsa-miR-3920	PAR-CLIP	22100165
MIRT447392	hsa-miR-29a-5p	PAR-CLIP	22100165
MIRT447391	hsa-miR-873-3p	PAR-CLIP	22100165
MIRT447390	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447389	hsa-miR-3672	PAR-CLIP	22100165
MIRT447387	hsa-miR-6864-3p	PAR-CLIP	22100165
MIRT447388	hsa-miR-578	PAR-CLIP	22100165
MIRT1441035	hsa-miR-595	CLIP-seq
MIRT1441036	hsa-miR-9	CLIP-seq

Show/Hide all (10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	24407287
GO:0005903	Component	Brush border	TAS	8052624
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IBA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA

MIM	HGNC	e!Ensembl
606635	9490	ENSG00000154646

P98073

Protein name

Enteropeptidase (EC 3.4.21.9) (Enterokinase) (Serine protease 7) (Transmembrane protease serine 15) [Cleaved into: Enteropeptidase non-catalytic heavy chain; Enteropeptidase catalytic light chain]

Protein function

Responsible for initiating activation of pancreatic proteolytic proenzymes (trypsin, chymotrypsin and carboxypeptidase A). It catalyzes the conversion of trypsinogen to trypsin which in turn activates other proenzymes including chymotrypsinogen,

PDB

4DGJ , 6ZOV , 7WQX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01390	SEA	56 → 158	SEA domain	Family
PF00057	Ldl_recept_a	182 → 221	Low-density lipoprotein receptor domain class A	Repeat
PF00431	CUB	225 → 331	CUB domain	Domain
PF00629	MAM	347 → 503	MAM domain, meprin/A5/mu	Domain
PF00431	CUB	524 → 631	CUB domain	Domain
PF00057	Ldl_recept_a	641 → 677	Low-density lipoprotein receptor domain class A	Repeat
PF15494	SRCR_2	690 → 776	Scavenger receptor cysteine-rich domain	Domain
PF00089	Trypsin	785 → 1014	Trypsin	Domain

Tissue specificity

TISSUE SPECIFICITY: Intestinal brush border.

Sequence

MGSKRGISSRHHSLSSYEIMFAALFAILVVLCAGLIAVSCLTIKESQRGAALGQSHEARA
TFKITSGVTYNPNLQDKLSVDFKVLAFDLQQMIDEIFLSSNLKNEYKNSRVLQFENGSII
VVFDLFFAQWVSDENVKEELIQGLEANKSSQLVTFHIDLNSVDILDKLTTTSHLATPGNV
SIECLPGSSPCTDALTCIKADLFCDGEVNCPDGSDEDNKMCATVCDGRFLLTGSSGSFQA
THYPKPSETSVVCQWIIRVNQGLSIKLSFDDFNTYYTDILDIYEGVGSSKILRASIWETN
PGTIRIFSNQVTATFLIESDESDYVGFNATYTAFNSSELNNYEKINCNFEDGFCFWVQDL
NDDNEWERIQGSTFSPFTGPNFDHTFGNASGFYISTPTGPGGRQERVGLLSLPLDPTLEP
ACLSFWYHMYGENVHKLSINISNDQNMEKTVFQKEGNYGDNWNYGQVTLNETVKFKVAFN
AFKNKILSDIALDDISLTYGICNGSLYPEPTLVPTPPPELPTDCGGPFELWEPNTTFSST
NFPNSYPNLAFCVWILNAQKGKNIQLHFQEFDLENINDVVEIRDGEEADSLLLAVYTGPG
PVKDVFSTTNRMTVLLITNDVLARGGFKANFTTGYHLGIPEPCKADHFQCKNGECVPLVN
LCDGHLHCEDGSDEADCVRFFNGTTNNNGLVRFRIQSIWHTACAENWTTQISNDVCQLLG
LGSGNSSKPIFPTDGGPFVKLNTAPDGHLILTPSQQCLQDSLIRLQCNHKSCGKKLAAQD
ITPKIVGGSNAKEGAWPWVVGLYYGGRLLCGASLVSSDWLVSAAHCVYGRNLEPSKWTAI
LGLHMKSNLTSPQTVPRLIDEIVINPHYNRRRKDNDIAMMHLEFKVNYTDYIQPICLPEE
NQVFPPGRNCSIAGWGTVVYQGTTANILQEADVPLLSNERCQQQMPEYNITENMICAGYE
EGGIDSCQGDSGGPLMCQENNRWFLAGVTSFGYKCALPNRPGVYARVSRFTEWIQSFLH

Sequence length

1019

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Enterokinase deficiency	Pathogenic; Likely pathogenic	rs2146856395, rs765937590, rs376129645, rs767258888, rs77200626, rs121908059, rs121908060, rs780802518, rs753574461, rs1555909961, rs749950017, rs748851550	RCV001844306 RCV001785070 RCV001783880 RCV005628366 RCV000004381 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TMPRSS15-related disorder	Likely pathogenic	rs1389176938, rs753574461	RCV003412533 RCV003411997	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CONGENITAL ENTEROPATHY DUE TO ENTEROPEPTIDASE DEFICIENCY	—	ClinGen, Orphanet ClinGen, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	LHGDN	12907431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chylomicron retention disease	Chylomicron Retention Disease	BEFREE	24725128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital enteropathy due to enteropeptidase deficiency	Congenital Enteropathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24725128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	15716609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	15716609	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Enterokinase Deficiency	Enterokinase Deficiency	CLINVAR_DG	11719902		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Enterokinase Deficiency	Enterokinase Deficiency	ORPHANET_DG	11719902		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Enterokinase Deficiency	Enterokinase Deficiency	BEFREE	19482641, 23185382		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Enterokinase Deficiency	Enterokinase Deficiency	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypoproteinemia	Hypoproteinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12907431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28075401		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23185382, 24725128		★★★★★ ★☆☆☆☆ Found in Text Mining only

TMPRSS15 (transmembrane serine protease 15)