KLK4 (kallikrein related peptidase 4)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID 9622
Gene name Kallikrein related peptidase 4
Gene symbol KLK4
Synonyms (NCBI Gene)
AI2A1ARM1EMSPEMSP1KLK-L1PRSS17PSTSkallikrein
Chromosome 19
Chromosome location 19q13.41
Summary 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.
3
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.
29
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 assayWestern blottingqRT-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 Transcription factors information provided by TRRUST V2 database.
2
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (21)
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
603767 6365 ENSG00000167749
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Amelogenesis imperfecta Pathogenic rs1266288524, rs1185328501 RCV002254672
RCV002254673
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis imperfecta type 2A1 Likely pathogenic; Pathogenic rs768235705, rs786204825, rs104894704, rs556734208, rs201555681 RCV001728053
RCV000169728
RCV000006452
RCV000399535
RCV003990766
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (13)
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.
Phenotype Name Clinical Significance Source Evidence Score
AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA PIGMENTED HYPOMATURATION TYPE — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA TYPE 2 — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1 — Disgenet, HPO
Disgenet, HPO
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (127)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 23798432
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 11489814
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 29707153
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 23201139
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 26884824 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amelogenesis Imperfecta Amelogenesis imperfecta LHGDN 15235027
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta Amelogenesis imperfecta BEFREE 16246936, 16674656, 17552940, 20938048, 22243262, 22538897, 26124219, 27146352
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta Amelogenesis imperfecta Pubtator 16674655, 18096894, 19530186, 19966041, 20938048, 21597265, 22243262, 39273410 Associate
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta Amelogenesis imperfecta CLINVAR_DG 28611678
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta Amelogenesis imperfecta HPO_DG
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)