KLK4 (kallikrein related peptidase 4)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9622
Gene name Gene Name - the full gene name approved by the HGNC.
Kallikrein related peptidase 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KLK4
Synonyms (NCBI Gene) Gene synonyms aliases
AI2A1, ARM1, EMSP, EMSP1, KLK-L1, PRSS17, PSTS, kallikrein
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.41
Summary Summary of gene provided in NCBI Entrez Gene.
Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs104894704 C>T Pathogenic Coding sequence variant, non coding transcript variant, stop gained
rs556734208 A>- Pathogenic Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant, 3 prime UTR variant
rs786204825 C>- Pathogenic Frameshift variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(29)
miRTarBase ID miRNA Experiments Reference
MIRT736612 hsa-miR-3126-5p Luciferase reporter assay, Western blotting, qRT-PCR 34101307
MIRT1099055 hsa-miR-2355-5p CLIP-seq
MIRT2026888 hsa-miR-1321 CLIP-seq
MIRT2026889 hsa-miR-193a-5p CLIP-seq
MIRT2026890 hsa-miR-4419a CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
AR Unknown 12539223
PGR Activation 19147544
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0004252 Function Serine-type endopeptidase activity IBA
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0005515 Function Protein binding IPI 25416956, 31391482
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS 10077646
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
603767 6365 ENSG00000167749
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9Y5K2
Protein name Kallikrein-4 (EC 3.4.21.-) (Enamel matrix serine proteinase 1) (Kallikrein-like protein 1) (KLK-L1) (Prostase) (Serine protease 17)
Protein function Has a major role in enamel formation (PubMed:15235027). Required during the maturation stage of tooth development for clearance of enamel proteins and normal structural patterning of the crystalline matrix (By similarity). {ECO:0000250|UniProtKB
PDB 2BDG , 2BDH , 2BDI , 4K1E , 4K8Y , 4KEL , 4KGA , 6KBR , 6NVB , 6O21 , 7JOD , 7JOE , 7JOS , 7JOW , 7JQK , 7JQN , 7JQO , 7JQV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00089 Trypsin 31 → 247 Trypsin Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in prostate.
Sequence
Sequence length 254
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Amelogenesis imperfecta Amelogenesis imperfecta type 2A1 rs104894704, rs786204825, rs556734208 N/A
Show/Hide Text Mining Associations (63)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 21679467
Adenocarcinoma Associate 32592124
Adenoma Pleomorphic Associate 30120721
Alzheimer Disease Associate 26884824
Amelogenesis Imperfecta Associate 16674655, 18096894, 19530186, 19966041, 20938048, 21597265, 22243262, 39273410
Amelogenesis Imperfecta hypomaturation type Associate 16246936
Angioedema Associate 23844783, 36251573
Angioedemas Hereditary Associate 29729940, 34838707, 35278245, 36251573, 38142864
Aortic Aneurysm Associate 15765142
Arthritis Associate 37202736