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Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 8p23. [provided by RefSeq, Nov 2014]
DEFB130A (Defensin Beta 130A) is a Protein Coding gene. Diseases associated with DEFB130A include Epididymis Disease and Vitreoretinal Degeneration, Snowflake Type. Among its related pathways are Defensins and Innate Immune System. An important paralog of this gene is DEFB130B.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH08J012361 | Promoter | 0.9 | EPDnew Ensembl | 0.3 | -44.1 | -44085 | 1.6 | ZIC2 ZFHX2 NRF1 ZBTB8A | FAM66A piR-40666-029 ZNF705CP DEFB130A FAM86B2 lnc-ZNF705D-7 | |
GH08J012391 | Enhancer | 0.5 | Ensembl | 0.2 | -73.3 | -73334 | 1.1 | ZIC2 CTBP1 ZFHX2 ATF4 IKZF1 ESRRA | DEFB109A piR-31534-634 lnc-FAM86B2-4 FAM66A FAM86B2 DEFB130A lnc-ZNF705D-7 | |
GH08J012287 | Enhancer | 0.2 | Ensembl | 0.3 | +32.1 | 32115 | 0.4 | piR-51968-024 DEFB130A piR-37750-012 lnc-ZNF705D-7 FAM86B1 | ||
GH08J012286 | Enhancer | 0.2 | Ensembl | 0.3 | +32.7 | 32715 | 0.4 | piR-51968-024 DEFB130A piR-37750-012 lnc-ZNF705D-7 FAM86B1 | ||
GH08J012285 | Enhancer | 0.2 | Ensembl | 0.3 | +33.3 | 33315 | 0.4 | piR-51968-024 DEFB130A piR-37750-012 lnc-ZNF705D-7 FAM86B1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0031731 | CCR6 chemokine receptor binding | IBA | 21873635 |
GO:0042056 | chemoattractant activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005615 | extracellular space | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Defensins |
.81
.81
|
|
2 | Innate Immune System |
.61
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006935 | chemotaxis | IBA | 21873635 |
GO:0006952 | defense response | IEA | -- |
GO:0042742 | defense response to bacterium | IEA,IBA | 21873635 |
GO:0050918 | positive chemotaxis | IEA | -- |
GO:0060326 | cell chemotaxis | IBA | 21873635 |
This gene was present in the common ancestor of human and mouse.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DEFB130 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Defb41 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Defb47 30 31 |
|
OneToMany |
Disorder | Aliases | PubMed IDs |
---|---|---|
epididymis disease |
|
|
vitreoretinal degeneration, snowflake type |
|
|
eye degenerative disease |
|
|