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	11005
Gene name	Serine peptidase inhibitor Kazal type 5
Gene symbol	SPINK5
Synonyms (NCBI Gene)	LEKTILETKINETSNSVAKTI
Chromosome	5
Chromosome location	5q32
Summary	This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. T

Show/Hide all (44)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908387	C>T	Pathogenic	Stop gained, coding sequence variant
rs142227576	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs142558269	C>G,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, missense variant
rs181639116	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199757347	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs201269335	A>T	Pathogenic	Intron variant
rs367958902	C>T	Pathogenic	Coding sequence variant, stop gained
rs368134354	G>A,C,T	Pathogenic, likely-pathogenic	Intron variant
rs373463881	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs565782662	AAA>-,A,AA,AAAA,AAAAAAA	Pathogenic	Coding sequence variant, frameshift variant, inframe deletion
rs587777749	A>T	Pathogenic	Splice acceptor variant
rs748978134	->A	Pathogenic	Coding sequence variant, frameshift variant
rs752777832	T>C,G	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs752941297	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, synonymous variant
rs753621591	C>T	Pathogenic	Stop gained, coding sequence variant
rs756874525	->GTGC	Pathogenic	Frameshift variant, coding sequence variant
rs759255682	G>A	Pathogenic	Splice acceptor variant
rs761490126	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs766028970	C>T	Pathogenic	Coding sequence variant, stop gained
rs766978225	T>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, stop gained
rs769519367	T>-	Conflicting-interpretations-of-pathogenicity	Stop lost, intron variant, terminator codon variant, frameshift variant
rs775341740	G>A	Pathogenic	Splice donor variant
rs886039547	C>T	Pathogenic	Coding sequence variant, stop gained
rs886041508	A>T	Pathogenic	Coding sequence variant, stop gained
rs1057518067	G>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057518161	T>C	Pathogenic	Splice donor variant
rs1057520643	T>A,C	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1057524476	G>A	Pathogenic	Splice acceptor variant
rs1131691490	T>A	Pathogenic	Splice donor variant, 5 prime UTR variant
rs1131691815	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1362009010	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1419297868	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554104853	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554105045	C>A	Pathogenic	Coding sequence variant, stop gained
rs1554105205	GAAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561680487	TTGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1561684604	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1561686960	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1561695740	TTCTTGTGAGTGGGCGGCAGCCACTG>CT	Pathogenic	Intron variant, splice donor variant, coding sequence variant
rs1561701382	G>A	Likely-pathogenic	Splice donor variant
rs1581064755	TGTGGCACAGATGGGAA>GACAACATATGACAACAGATGAC	Pathogenic	Coding sequence variant, stop gained, inframe indel
rs1581074967	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581096271	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581109809	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant

Show/Hide all (4)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018086	hsa-miR-335-5p	Microarray	18185580
MIRT755526	hsa-miR-5100	Luciferase reporter assayWestern blottingqRT-PCRImmunoprecipitaion (IP)Immunohistochemistry (IHC)in vitro cullelar assaysImmunofluorescence	35705923
MIRT1384454	hsa-miR-3174	CLIP-seq
MIRT1384455	hsa-miR-4276	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002787	Process	Negative regulation of antibacterial peptide production	IEA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IBA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IDA	10419450, 15680911
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0005576	Component	Extracellular region	IBA
GO:0005576	Component	Extracellular region	IDA	15680911
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	10419450
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IDA	12915442
GO:0005783	Component	Endoplasmic reticulum	IDA	15680911
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	15680911
GO:0005829	Component	Cytosol	IDA	15680911
GO:0005938	Component	Cell cortex	IDA	12915442
GO:0009913	Process	Epidermal cell differentiation	IDA	12915442
GO:0016525	Process	Negative regulation of angiogenesis	TAS	15680911
GO:0030154	Process	Cell differentiation	IBA
GO:0030155	Process	Regulation of cell adhesion	IEA
GO:0030198	Process	Extracellular matrix organization	TAS	15680911
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0030855	Process	Epithelial cell differentiation	TAS	12915442
GO:0035315	Process	Hair cell differentiation	TAS	12915442
GO:0045580	Process	Regulation of T cell differentiation	TAS	12915442
GO:0045861	Process	Negative regulation of proteolysis	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	15680911
GO:0050777	Process	Negative regulation of immune response	TAS	12915442
GO:0051884	Process	Regulation of timing of anagen	TAS	12915442
GO:0097209	Component	Epidermal lamellar body	IDA	15675955

MIM	HGNC	e!Ensembl
605010	15464	ENSG00000133710

Q9NQ38

Protein name

Serine protease inhibitor Kazal-type 5 (Lympho-epithelial Kazal-type-related inhibitor) (LEKTI) [Cleaved into: Hemofiltrate peptide HF6478; Hemofiltrate peptide HF7665]

Protein function

Serine protease inhibitor, probably important for the anti-inflammatory and/or antimicrobial protection of mucous epithelia. Contribute to the integrity and protective barrier function of the skin by regulating the activity of defense-activating

PDB

1H0Z , 1HDL , 1UUC , 1UVF , 1UVG , 5YHN

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07648	Kazal_2	106 → 151	Kazal-type serine protease inhibitor domain	Domain
PF00050	Kazal_1	161 → 211	Kazal-type serine protease inhibitor domain	Domain
PF00050	Kazal_1	225 → 273	Kazal-type serine protease inhibitor domain	Domain
PF00050	Kazal_1	297 → 348	Kazal-type serine protease inhibitor domain	Domain
PF00050	Kazal_1	437 → 487	Kazal-type serine protease inhibitor domain	Domain
PF00050	Kazal_1	496 → 548	Kazal-type serine protease inhibitor domain	Domain
PF00050	Kazal_1	631 → 684	Kazal-type serine protease inhibitor domain	Domain
PF00050	Kazal_1	707 → 758	Kazal-type serine protease inhibitor domain	Domain
PF00050	Kazal_1	774 → 826	Kazal-type serine protease inhibitor domain	Domain
PF00050	Kazal_1	916 → 962	Kazal-type serine protease inhibitor domain	Domain
PF00050	Kazal_1	993 → 1046	Kazal-type serine protease inhibitor domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in the thymus and stratum corneum. Also found in the oral mucosa, parathyroid gland, Bartholin's glands, tonsils, and vaginal epithelium. Very low levels are detected in lung, kidney, and prostate. {ECO:0000269|PubMed:

Sequence

MKIATVSVLLPLALCLIQDAASKNEDQEMCHEFQAFMKNGKLFCPQDKKFFQSLDGIMFI
NKCATCKMILEKEAKSQKRARHLARAPKATAPTELNCDDFKKGERDGDFICPDYYEAVCG
TDGKTYDNRCALCAENAKTGSQIGVKSEGECKSSNPEQDVCSAFRPFVRDGRLGCTREND
PVLGPDGKTHGNKCAMCAELFLKEAENAKREGETRIRRNAEKDFCKEYEKQVRNGRLFCT
RESDPVRGPDGRMHGNKCALCAEIFKQRFSEENSKTDQNLGKAEEKTKVKREIVKLCSQY
QNQAKNGILFCTRENDPIRGPDGKMHGNLCSMCQAYFQAENEEKKKAEARARNKRESGKA
TSYAELCSEYRKLVRNGKLACTRENDPIQGPDGKVHGNTCSMCEVFFQAEEEEKKKKEGK
SRNKRQSKSTASFEELCSEYRKSRKNGRLFCTRENDPIQGPDGKMHGNTCSMCEAFFQQE
ERARAKAKREAAKEICSEFRDQVRNGTLICTREHNPVRGPDGKMHGNKCAMCASVFKLEE
EEKKNDKEEKGKVEAEKVKREAVQELCSEYRHYVRNGRLPCTRENDPIEGLDGKIHGNTC
SMCEAFFQQEAKEKERAEPRAKVKREAEKETCDEFRRLLQNGKLFCTRENDPVRGPDGKT
HGNKCAMCKAVFQKENEERKRKEEEDQRNAAGHGSSGGGGGNTQDECAEYREQMKNGRLS
CTRESDPVRDADGKSYNNQCTMCKAKLEREAERKNEYSRSRSNGTGSESGKDTCDEFRSQ
MKNGKLICTRESDPVRGPDGKTHGNKCTMCKEKLEREAAEKKKKEDEDRSNTGERSNTGE
RSNDKEDLCREFRSMQRNGKLICTRENNPVRGPYGKMHINKCAMCQSIFDREANERKKKD
EEKSSSKPSNNAKDECSEFRNYIRNNELICPRENDPVHGADGKFYTNKCYMCRAVFLTEA
LERAKLQEKPSHVRASQEEDSPDSFSSLDSEMCKDYRVLPRIGYLCPKDLKPVCGDDGQT
YNNPCMLCHENLIRQTNTHIRSTGKCEESSTPGTTAASMPPSDE

Sequence length

1064

Interactions

View interactions

	Reactome
			Formation of the cornified envelope

969

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Erythroderma	Likely pathogenic; Pathogenic	rs368134354, rs752941297	RCV000414954 RCV000415446
Ichthyosis linearis circumflexa	Pathogenic; Likely pathogenic	rs2113177526, rs1309309448, rs192473445, rs1754451124, rs773865874, rs1480221716, rs2113120213, rs2113195147, rs2113120242, rs750789505, rs1754362343, rs776293648, rs2531649877, rs567566682, rs121908387 View all (58 more)	RCV003761217 RCV003761403 RCV003762054 RCV003772929 RCV003773286 RCV003762055 RCV003772935 RCV003762011 RCV003772957 RCV003597237 RCV003762117 RCV003597226 RCV003596182 RCV003596216 RCV003595852 RCV003492286 RCV005059032 RCV003763249 RCV003764021 RCV003764010 RCV003596124 RCV003764137 RCV003595905 RCV003595906 RCV005103915 RCV003596332 RCV003596411 RCV003596850 RCV003596851 RCV003762289 RCV003762284 RCV003762282 RCV003762418 RCV003762691 RCV003763290 RCV003763524 RCV003763554 RCV003764343 RCV003823546 RCV003847298 RCV003761967 RCV003595955 RCV003595956 RCV003595957 RCV003761982 RCV003595991 RCV003596007 RCV003596010 RCV003596033 RCV003596076 RCV005056353 RCV003762844 RCV003596083 RCV003596517 RCV003596505 RCV003596547 RCV003762896 RCV003596596 RCV003596560 RCV003596575 RCV003596573 RCV003596622 RCV003596599 RCV003762969 RCV003763753 RCV003595676 RCV003763771 RCV003595661 RCV003595710 RCV003595709 RCV003595718 RCV003763906 RCV003763924 RCV003595733
Increased circulating IgE concentration	Likely pathogenic; Pathogenic	rs368134354, rs752941297	RCV000414954 RCV000415446
Netherton syndrome	Pathogenic; Likely pathogenic	rs750225476, rs375224787, rs1752708600, rs1753640069, rs192473445, rs201674667, rs750789505, rs776293648, rs121908387, rs587777749, rs565782662, rs1754222214, rs201269335, rs748978134, rs773514258 View all (25 more)	RCV001310294 RCV004796647 RCV001783798 RCV001837364 RCV005031901 RCV001946939 RCV004796674 RCV005038364 RCV000005582 RCV000005583 RCV000005584 RCV002776177 RCV001063839 RCV001089994 RCV003328121 RCV003328122 RCV000371796 RCV005036958 RCV004798830 RCV000766268 RCV005033940 RCV000806530 RCV005034010 RCV000794069 RCV001380051 RCV000539268 RCV004596239 RCV000604151 RCV005034201 RCV000991162 RCV000761521 RCV000766267 RCV000766269 RCV000766270 RCV005047055 RCV000800344 RCV005866771 RCV003151831 RCV005036401 RCV001229273 RCV005036507 RCV001270889
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs374012512	RCV005927743
Susceptibility to nonsyndromic otitis media	Pathogenic	rs199757347	RCV001260962

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Benign	rs3777136	RCV005905377
Colon adenocarcinoma	Uncertain significance	rs373811778	RCV005900149
Malignant lymphoma, large B-cell, diffuse	Benign	rs2303072	RCV005905378
Otitis media, susceptibility to	Uncertain significance	rs1753847242	RCV001543375
SPINK5 POLYMORPHISM	Benign	rs2303067	RCV000005585
SPINK5-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	rs761917047, rs1754029439, rs764133865, rs760360443, rs759079847, rs142558269, rs541432320, rs114635730, rs115820034, rs961767606, rs564723902, rs184512279, rs142227576, rs201942775, rs370311628 View all (4 more)	RCV003930996 RCV003903494 RCV003978513 RCV003943456 RCV003950248 RCV003922548 RCV003912498 RCV003932439 RCV003932440 RCV003929657 RCV003912061 RCV003902620 RCV003915327 RCV003980226 RCV004758052 RCV003943156 RCV003905906 RCV003972991 RCV004758145
Thymoma	Benign; Uncertain significance	rs114635730, rs745918698	RCV005898943 RCV005909157
Uterine carcinosarcoma	Benign	rs72660259, rs2287767, rs2052537, rs2303072	RCV005918313 RCV005915729 RCV005886859 RCV005905379
Uterine corpus endometrial carcinoma	Benign	rs114635730	RCV005898944

Show/Hide Text Mining Associations (70)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Allergic Fungal Sinusitis	Associate	18588753
alpha 1 Antitrypsin Deficiency Autosomal Recessive	Associate	16628198
alpha 1 Antitrypsin Deficiency Autosomal Recessive	Inhibit	16628198
Asthma	Associate	16519819, 19534795, 24831437
Blood Coagulation Disorders Inherited	Associate	39501396
Brain Diseases	Associate	26732982
Carcinogenesis	Associate	16670719
Carcinogenesis	Stimulate	24763828
Carcinoma Hepatocellular	Associate	26517370, 37990105
Carcinoma Non Small Cell Lung	Associate	35368958
Carcinoma Renal Cell	Associate	16670719
Cataract and congenital ichthyosis	Associate	33807935
Chickenpox	Stimulate	30270115
Coronary Artery Disease	Associate	35069582
Coxsackievirus Infections	Associate	25614593
Dementia	Associate	26329378, 26732982, 28230174
Dermatitis	Associate	31450277
Dermatitis Atopic	Associate	19534795, 27769847, 29926005, 31450277, 37239440
Dermatitis Atopic 1	Associate	19534795
Diabetes Mellitus Type 1	Associate	35069582
Disease Susceptibility	Associate	30477583
Drug Hypersensitivity	Associate	29875205
Eosinophilia	Associate	19534795
Eosinophilic Esophagitis	Inhibit	28712126
Epilepsy	Associate	28230174
Essential Tremor	Associate	36183486
Familial encephalopathy with neuroserpin inclusion bodies	Associate	26329378, 32375228
Fibula Fractures	Associate	31450277
Food Hypersensitivity	Associate	22299310
Growth Disorders	Associate	17989726
Hair Diseases	Associate	29926005
Hyperkeratotic Cutaneous Capillary Venous Malformations Associated With Cerebral Capillary Malformations	Associate	27769847
Hypersensitivity Immediate	Associate	21997416
Ichthyosis	Associate	29926005, 33807935
Ichthyosis Lamellar	Associate	11874482, 17989726, 25526335
Ichthyosis X Linked	Associate	27478344
Ige Responsiveness Atopic	Associate	19534795, 29926005, 37239440
Immunologic Deficiency Syndromes	Associate	19683336
Infections	Associate	17989726
Inflammation	Associate	21697885, 35069582, 35487308
Job Syndrome	Associate	31990481
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma	Associate	11841556, 25526335, 25710899, 31450277
Leukemia	Associate	27374947
Lupus Erythematosus Systemic	Associate	16519819
Lymphatic Metastasis	Associate	35368958
Mouth Neoplasms	Associate	25029526
Musculoskeletal Abnormalities	Associate	34390440
Nasal Polyps	Inhibit	18588753
Neoplasms	Associate	16670719, 17494866, 21443540, 26517370, 27374947, 35368958
Neoplasms	Stimulate	24763828
Netherton Syndrome	Associate	10712206, 11511292, 11841556, 11874482, 15304086, 16374478, 16628198, 17989726, 19534795, 19683336, 21697885, 21997416, 22089833, 25526335, 25710899 View all (15 more)
Netherton Syndrome	Inhibit	15675955, 19190773
Neurodegenerative Diseases	Associate	26329378
Pathological Conditions Anatomical	Associate	21697885
Peeling Skin Syndrome	Associate	30032785
Polyps	Inhibit	18588753
Psoriasis	Associate	16519819
Pyoderma	Associate	30270115
Rhinitis Allergic	Associate	19534795
Rosacea	Stimulate	30270115
Skin Diseases	Associate	19534795, 22936986, 36569942
Skin Diseases	Stimulate	31501002
Skin Diseases Genetic	Associate	16374478
Skin Diseases Infectious	Associate	30270115
Spondyloepiphyseal dysplasia Omani type	Associate	34888090
Squamous Cell Carcinoma of Head and Neck	Inhibit	18254958
Squamous Cell Carcinoma of Head and Neck	Associate	21443540, 30226546, 37185487
Status Asthmaticus	Stimulate	28552993
Stomach Neoplasms	Associate	24763828
Trichorrhexis nodosa syndrome	Associate	11841556, 31450277

SPINK5 (serine peptidase inhibitor Kazal type 5)