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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 of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. In some tissues its expression is hormonally regulated. The expression pattern of a similar mouse protein in murine developing teeth supports a role for the protein in the degradation of enamel proteins. Several transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Dec 2014]
KLK4 (Kallikrein Related Peptidase 4) is a Protein Coding gene. Diseases associated with KLK4 include Amelogenesis Imperfecta, Hypomaturation Type, Iia1 and Amelogenesis Imperfecta Hypomaturation Type. Among its related pathways are Collagen chain trimerization and MSP-RON Signaling. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity. An important paralog of this gene is KLK5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004252 | serine-type endopeptidase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0008233 | peptidase activity | IEA | -- |
GO:0008236 | serine-type peptidase activity | TAS,NAS | 10438493 |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS,IEA | -- |
GO:0030141 | secretory granule | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Collagen chain trimerization |
Intrinsic Prothrombin Activation Pathway
.48
|
Blood Coagulation Cascade
.46
|
2 | MSP-RON Signaling |
MSP-RON Signaling
-
|
Symbol | External ID(s) | Details |
---|---|---|
TYRO3 | ||
APP | ||
EPPIN | ||
EPPIN-WFDC6 | ||
HLA-DRA |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006508 | proteolysis | NAS | 10438493 |
GO:0022617 | extracellular matrix disassembly | IBA | 21873635 |
GO:0030163 | protein catabolic process | IEA | -- |
GO:0031214 | biomineral tissue development | IEA | -- |
GO:0097186 | amelogenesis | IMP | 15235027 |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | · | 6c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||
SP5: | - | - | - | - | - | ||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||
SP8: | - |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KLK4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KLK4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KLK4 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Klk4 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Klk4 30 17 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
978005 | Uncertain Significance: Male infertility; Inborn genetic diseases | 50,907,019(-) |
G/A NM_004917.4(KLK4):c.680C>T (p.Pro227Leu) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
986162 | Uncertain Significance: Inborn genetic diseases | 50,907,002(-) |
C/T NM_004917.4(KLK4):c.697G>A (p.Val233Met) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs104894704 | Pathogenic: Amelogenesis imperfecta, hypomaturation type, IIA1 | 50,908,596(-) |
C/T NM_004917.4(KLK4):c.458G>A (p.Trp153Ter) |
NONSENSE,NON_CODING_TRANSCRIPT | |
rs1654552 | Benign: not specified | 50,909,410(-) |
C/A NM_004917.4(KLK4):c.66G>T (p.Ser22=) |
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR | |
rs198966 | Benign: not provided | 50,908,754(-) |
G/A NM_004917.4(KLK4):c.300C>T (p.Ser100=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1633192 | CNV | deletion | 17803354 |
esv3583473 | CNV | loss | 25503493 |
nsv1140251 | OTHER | inversion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
amelogenesis imperfecta, hypomaturation type, iia1 |
|
|
amelogenesis imperfecta hypomaturation type |
|
|
amelogenesis imperfecta |
|
|
prosopagnosia |
|
|
parotid disease |
|
|