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Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is locally regulated by inflammation. [provided by RefSeq, Jul 2008]
DEFB4A (Defensin Beta 4A) is a Protein Coding gene. Diseases associated with DEFB4A include Oral Candidiasis and Bacterial Pneumonia. Among its related pathways are Defensins and Innate Immune System. An important paralog of this gene is DEFB4B.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH08J007894 | Promoter | 0.3 | EPDnew | 600.7 | 0.0 | -19 | 0.1 | DEFB4A HSPD1P2 DEFB103A | ||
GH08J007913 | Enhancer | 0.8 | Ensembl dbSUPER | 0.4 | +18.7 | 18724 | 1.6 | REST RAD21 TRIM22 CTCF ZNF600 ZSCAN5C ESRRA ZBTB17 SMC3 ZNF654 | piR-41695-002 piR-32559-428 ZNF705B DEFB4A | |
GH08J007901 | Enhancer | 0.4 | Ensembl dbSUPER | 0.4 | +8.2 | 8241 | 1 | ZNF585B | piR-30444-309 piR-32559-427 piR-37567-213 FAM90A11P DEFB4A ZNF705B | |
GH08J007903 | Enhancer | 0.3 | Ensembl dbSUPER | 0.4 | +9.1 | 9081 | 0.5 | MG598800-033 piR-30444-309 piR-32559-427 piR-37567-213 DEFB4A ZNF705B | ||
GH08J007915 | Enhancer | 0.3 | Ensembl dbSUPER | 0.4 | +22.2 | 22224 | 3.4 | L13714-425 piR-38716-153 ZNF705B DEFB4A |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 20068036 |
GO:0031731 | CCR6 chemokine receptor binding | IBA,IDA | 20068036 |
GO:0042056 | chemoattractant activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IBA,IDA | 9727055 |
GO:0005796 | Golgi lumen | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Defensins |
.81
.81
|
|
2 | Innate Immune System |
.61
|
|
3 | Bacterial infections in CF airways |
Bacterial infections in CF airways
.78
|
Immune response Bacterial infections in normal airways
.78
|
4 | IL-17 Family Signaling Pathways | ||
5 | NOD-like receptor signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006935 | chemotaxis | IBA,IDA | 20068036 |
GO:0006952 | defense response | IEA | -- |
GO:0006955 | immune response | TAS | 10521347 |
GO:0007186 | G protein-coupled receptor signaling pathway | TAS | 10521347 |
GO:0019730 | antimicrobial humoral response | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
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Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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This gene was present in the common ancestor of human and chimp.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DEFB4A 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
773220 | Benign: not provided | 7,894,760(+) | G/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
oral candidiasis |
|
|
bacterial pneumonia |
|
|
tinea corporis |
|
|
dermatophytosis |
|
|
cholesteatoma of middle ear |
|