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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	164656
Gene name	Transmembrane serine protease 6
Gene symbol	TMPRSS6
Synonyms (NCBI Gene)	IRIDAMT2
Chromosome	22
Chromosome location	22q12.3
Summary	The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver. Alternative splicing results in multiple transcript

Show/Hide all (15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853119	C>T	Pathogenic	Coding sequence variant, missense variant
rs137853120	C>T	Pathogenic	Coding sequence variant, missense variant
rs137853121	G>T	Pathogenic	Coding sequence variant, stop gained
rs137853122	A>C	Pathogenic	Coding sequence variant, stop gained
rs137853123	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs267607121	G>T	Pathogenic	Coding sequence variant, missense variant
rs387907018	C>T	Pathogenic	Missense variant, coding sequence variant
rs767094129	CC>-,C,CCC	Pathogenic	Frameshift variant, coding sequence variant
rs775869554	G>A	Pathogenic	Coding sequence variant, stop gained
rs786205058	C>T	Pathogenic	Splice donor variant
rs786205059	C>G	Pathogenic	Splice donor variant
rs786205060	->GGGG	Pathogenic	Frameshift variant, coding sequence variant
rs869320724	->GC	Pathogenic	Frameshift variant, coding sequence variant
rs1384933966	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569024289	G>C	Pathogenic	Coding sequence variant, stop gained

Show/Hide all (70)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030016	hsa-miR-26b-5p	Microarray	19088304
MIRT721887	hsa-miR-6798-5p	HITS-CLIP	19536157
MIRT721886	hsa-miR-6742-3p	HITS-CLIP	19536157
MIRT721885	hsa-miR-1266-5p	HITS-CLIP	19536157
MIRT721884	hsa-miR-4518	HITS-CLIP	19536157
MIRT721883	hsa-miR-661	HITS-CLIP	19536157
MIRT721882	hsa-miR-2861	HITS-CLIP	19536157
MIRT721881	hsa-miR-6772-5p	HITS-CLIP	19536157
MIRT721880	hsa-miR-4455	HITS-CLIP	19536157
MIRT721879	hsa-miR-609	HITS-CLIP	19536157
MIRT721878	hsa-miR-4417	HITS-CLIP	19536157
MIRT721877	hsa-miR-4265	HITS-CLIP	19536157
MIRT721876	hsa-miR-4296	HITS-CLIP	19536157
MIRT721875	hsa-miR-4322	HITS-CLIP	19536157
MIRT721887	hsa-miR-6798-5p	HITS-CLIP	19536157
MIRT721886	hsa-miR-6742-3p	HITS-CLIP	19536157
MIRT721885	hsa-miR-1266-5p	HITS-CLIP	19536157
MIRT721884	hsa-miR-4518	HITS-CLIP	19536157
MIRT721883	hsa-miR-661	HITS-CLIP	19536157
MIRT721882	hsa-miR-2861	HITS-CLIP	19536157
MIRT721881	hsa-miR-6772-5p	HITS-CLIP	19536157
MIRT721880	hsa-miR-4455	HITS-CLIP	19536157
MIRT721879	hsa-miR-609	HITS-CLIP	19536157
MIRT721878	hsa-miR-4417	HITS-CLIP	19536157
MIRT721877	hsa-miR-4265	HITS-CLIP	19536157
MIRT721876	hsa-miR-4296	HITS-CLIP	19536157
MIRT721875	hsa-miR-4322	HITS-CLIP	19536157
MIRT1441176	hsa-miR-1179	CLIP-seq
MIRT1441177	hsa-miR-1291	CLIP-seq
MIRT1441178	hsa-miR-296-5p	CLIP-seq
MIRT1441179	hsa-miR-3173-5p	CLIP-seq
MIRT1441180	hsa-miR-338-3p	CLIP-seq
MIRT1441181	hsa-miR-3689d	CLIP-seq
MIRT1441182	hsa-miR-4252	CLIP-seq
MIRT1441183	hsa-miR-4310	CLIP-seq
MIRT1441184	hsa-miR-4459	CLIP-seq
MIRT1441185	hsa-miR-4663	CLIP-seq
MIRT1441186	hsa-miR-541	CLIP-seq
MIRT1441187	hsa-miR-654-5p	CLIP-seq
MIRT1441188	hsa-miR-665	CLIP-seq
MIRT1441176	hsa-miR-1179	CLIP-seq
MIRT1441180	hsa-miR-338-3p	CLIP-seq
MIRT1441182	hsa-miR-4252	CLIP-seq
MIRT1441183	hsa-miR-4310	CLIP-seq
MIRT1441185	hsa-miR-4663	CLIP-seq
MIRT1441176	hsa-miR-1179	CLIP-seq
MIRT1441182	hsa-miR-4252	CLIP-seq
MIRT2353191	hsa-miR-4492	CLIP-seq
MIRT2353192	hsa-miR-4498	CLIP-seq
MIRT1441185	hsa-miR-4663	CLIP-seq
MIRT2353193	hsa-miR-762	CLIP-seq
MIRT1441176	hsa-miR-1179	CLIP-seq
MIRT1441182	hsa-miR-4252	CLIP-seq
MIRT1441183	hsa-miR-4310	CLIP-seq
MIRT1441185	hsa-miR-4663	CLIP-seq
MIRT2646818	hsa-miR-34a	CLIP-seq
MIRT2646819	hsa-miR-34c-5p	CLIP-seq
MIRT2646820	hsa-miR-3684	CLIP-seq
MIRT2646821	hsa-miR-449a	CLIP-seq
MIRT2646822	hsa-miR-449b	CLIP-seq
MIRT2646823	hsa-miR-4646-3p	CLIP-seq
MIRT2646824	hsa-miR-4671-5p	CLIP-seq
MIRT2646818	hsa-miR-34a	CLIP-seq
MIRT2646819	hsa-miR-34c-5p	CLIP-seq
MIRT2646820	hsa-miR-3684	CLIP-seq
MIRT2646821	hsa-miR-449a	CLIP-seq
MIRT2646822	hsa-miR-449b	CLIP-seq
MIRT2646823	hsa-miR-4646-3p	CLIP-seq
MIRT2646824	hsa-miR-4671-5p	CLIP-seq
MIRT2693590	hsa-miR-765	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0004222	Function	Metalloendopeptidase activity	TAS
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	18976966, 19357398, 32814053
GO:0005615	Component	Extracellular space	IDA	25156943
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	19357398
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	ISS
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	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0022617	Process	Extracellular matrix disassembly	TAS
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030514	Process	Negative regulation of BMP signaling pathway	IEA
GO:0030574	Process	Collagen catabolic process	TAS
GO:0033619	Process	Membrane protein proteolysis	IMP	25156943
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	25156943
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IEA
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IEA
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IMP	18408718
GO:0097264	Process	Self proteolysis	IMP	25156943

MIM	HGNC	e!Ensembl
609862	16517	ENSG00000187045

Q8IU80

Protein name

Transmembrane protease serine 6 (EC 3.4.21.-) (Matriptase-2)

Protein function

Membrane-bound serine protease (PubMed:18976966, PubMed:20518742, PubMed:25156943, PubMed:25588876). Through the cleavage of cell surface hemojuvelin (HJV), a regulator of the expression of the iron absorption-regulating hormone hepicidin/HAMP,

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01390	SEA	86 → 192	SEA domain	Family
PF00057	Ldl_recept_a	490 → 525	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	529 → 566	Low-density lipoprotein receptor domain class A	Repeat
PF00089	Trypsin	577 → 806	Trypsin	Domain

Sequence

MLLLFHSKRMPVAEAPQVAGGQGDGGDGEEAEPEGMFKACEDSKRKARGYLRLVPLFVLL
ALLVLASAGVLLWYFLGYKAEVMVSQVYSGSLRVLNRHFSQDLTRRESSAFRSETAKAQK
MLKELITSTRLGTYYNSSSVYSFGEGPLTCFFWFILQIPEHRRLMLSPEVVQALLVEELL
STVNSSAAVPYRAEYEVDPEGLVILEASVKDIAALNSTLGCYRYSYVGQGQVLRLKGPDH
LASSCLWHLQGPKDLMLKLRLEWTLAECRDRLAMYDVAGPLEKRLITSVYGCSRQEPVVE
VLASGAIMAVVWKKGLHSYYDPFVLSVQPVVFQACEVNLTLDNRLDSQGVLSTPYFPSYY
SPQTHCSWHLTVPSLDYGLALWFDAYALRRQKYDLPCTQGQWTIQNRRLCGLRILQPYAE
RIPVVATAGITINFTSQISLTGPGVRVHYGLYNQSDPCPGEFLCSVNGLCVPACDGVKDC
PNGLDERNCVCRATFQCKEDSTCISLPKVCDGQPDCLNGSDEEQCQEGVPCGTFTFQCED
RSCVKKPNPQCDGRPDCRDGSDEEHCDCGLQGPSSRIVGGAVSSEGEWPWQASLQVRGRH
ICGGALIADRWVITAAHCFQEDSMASTVLWTVFLGKVWQNSRWPGEVSFKVSRLLLHPYH
EEDSHDYDVALLQLDHPVVRSAAVRPVCLPARSHFFEPGLHCWITGWGALREGGPISNAL
QKVDVQLIPQDLCSEVYRYQVTPRMLCAGYRKGKKDACQGDSGGPLVCKALSGRWFLAGL
VSWGLGCGRPNYFGVYTRITGVISWIQQVVT

Sequence length

811

Interactions

View interactions

	Reactome
			Collagen degradation Degradation of the extracellular matrix

187

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of metabolism/homeostasis	Likely pathogenic	rs2146038092	RCV001814410
Iron-refractory iron deficiency anemia	Likely pathogenic; Pathogenic	rs2146057214, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs776912815, rs918426003, rs387907018 View all (1 more)	RCV001730052 RCV000001464 RCV000001465 RCV000001466 RCV000001467 RCV000001468 RCV001375845 RCV000001470 RCV000001471 RCV000001472 RCV001375844 RCV000001474 RCV000001475 RCV002810026 RCV005356520 RCV000023787
Microcytic anemia	Likely pathogenic; Pathogenic	rs137853120, rs137853123, rs1569024289, rs775869554, rs1927509977, rs1930010425	RCV000001469 RCV000001473 RCV000754711 RCV000770971 RCV001250722 RCV001250721
TMPRSS6-related disorder	Likely pathogenic	rs137853120, rs137853121, rs2517768538	RCV004755696 RCV003952335 RCV003403018

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Hepatocellular carcinoma	Benign	rs732756	RCV005922384

Show/Hide Text Mining Associations (38)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anemia	Associate	23433094, 25557470, 30984307, 34444942
Anemia Hemolytic	Associate	22509377, 24175968
Anemia hypochromic microcytic	Associate	18596229
Anemia Iron Deficiency	Associate	18408718, 18596229, 18603562, 19357398, 19818657, 20713458, 20966077, 21873547, 22581667, 23319530, 24782651, 24867957, 25557470, 25588876, 28447549 View all (6 more)
beta Thalassemia	Associate	23144979
Carcinoma Hepatocellular	Associate	30135444
Carcinoma Non Small Cell Lung	Associate	35178045
Celiac Disease	Associate	29194702, 34444942
Chemical and Drug Induced Liver Injury	Associate	23144979
Chronic Disease	Associate	23433094
Composite Lymphoma	Associate	35052344
Coronary Artery Disease	Associate	28684612
COVID 19	Associate	38309700
Diabetes Mellitus	Associate	36585034
Diabetes Mellitus Type 2	Associate	22301935, 22815867
Fabry Disease	Associate	36140670
Glioma	Associate	27898674
Glycogen Storage Disease XII	Associate	33887194
Heart Diseases	Associate	31226389
Hemochromatosis	Associate	23433094
Hepatitis C Chronic	Associate	37632052
Hypercholesterolemia	Associate	31220083
Hyperferritinemia	Associate	23319530
Hypoxia	Stimulate	20966077
Inflammation	Associate	23433094, 33272965
Iron Deficiencies	Associate	18596229, 18603562, 19818657, 20738301, 22265928, 23144979, 23433094, 28447549, 28460265, 31010126, 33054130, 34780475
Iron Overload	Associate	22301935, 23144979
Iron Refractory Iron Deficiency Anemia	Associate	18408718, 20738301, 22509377, 22581667, 23319530, 25557470, 27643674, 28169443, 28447549, 30135444, 32253873, 32446932, 35893046, 36604716, 39582459
Kidney Failure Chronic	Associate	30984307
Lupus Erythematosus Systemic	Associate	33693920
Menorrhagia	Associate	24782651
Mental Disorders	Associate	31226389
Neoplasms	Associate	35178045
Non alcoholic Fatty Liver Disease	Associate	23144979
Peripheral Arterial Disease	Associate	20927387
Pica	Associate	22265928
Renal Insufficiency	Associate	36585034
Thalassemia	Associate	25557470

TMPRSS6 (transmembrane serine protease 6)