Aliases for DEFB115 Gene
Aliases for DEFB115 Gene
External Ids for DEFB115 Gene
- HGNC: 18096
- Entrez Gene: 245929
- Ensembl: ENSG00000215547
- UniProtKB: Q30KQ5
Previous GeneCards Identifiers for DEFB115 Gene
- GC20U990231
- GC20P029309
- GC20P029845
- GC20P026634
Summaries for DEFB115 Gene
-
Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014]
GeneCards Summary for DEFB115 Gene
DEFB115 (Defensin Beta 115) is a Protein Coding gene. Among its related pathways are Defensins and Innate Immune System.
UniProtKB/Swiss-Prot for DEFB115 Gene
-
Has antibacterial activity.
Additional gene information for DEFB115 Gene
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB115 Gene
Genomics for DEFB115 Gene
GeneHancer (GH) Regulatory Elements for DEFB115 Gene
Promoters and enhancers for DEFB115 Gene
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH20J031245 | Enhancer | 0.3 | FANTOM5 | 0.4 | -11.8 | -11816 | 0.4 | SREBF1 | LINC01597 DEFB116 DEFB121 GC20M031241 DEFB115 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around DEFB115 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for DEFB115 Gene
Genomic Locations for DEFB115 Gene
- chr20:31,257,664-31,259,632
- (GRCh38/hg38)
- Size:
- 1,969 bases
- Orientation:
- Plus strand
- chr20:29,845,467-29,847,435
- (GRCh37/hg19)
Genomic View for DEFB115 Gene
Genes around DEFB115 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20q11.21 by Entrez Gene
- 20q11.21 by HGNC
- 20q11.21 by Ensembl
DEFB115 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for DEFB115 Gene
Proteins for DEFB115 Gene
-
Protein details for DEFB115 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q30KQ5-DB115_HUMAN
- Recommended name:
- Beta-defensin 115
- Protein Accession:
- Q30KQ5
Protein attributes for DEFB115 Gene
- Size:
- 88 amino acids
- Molecular mass:
- 10071 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for DEFB115 Gene
Other Protein References for DEFB115 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for DEFB115
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Protein Products
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- antibodies-online: Search results for 3 available DEFB115 Proteins ranked by validation data
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-
Quality Products:
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Assay Products
No data available for DME Specific Peptides for DEFB115 Gene
Domains & Families for DEFB115 Gene
Gene Families for DEFB115 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted secreted proteins
Protein Domains for DEFB115 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for DEFB115 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q30KQ5- Family:
-
- Belongs to the beta-defensin family.
Function for DEFB115 Gene
Molecular function for DEFB115 Gene
- UniProtKB/Swiss-Prot Function:
- Has antibacterial activity.
Phenotypes for DEFB115 Gene
Animal Model Products
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-
CRISPR Products
-
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-
Vectors and viruses for KO, Activation, Repression, and more
-
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miRNA Products
Inhibitory RNA Products
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Clone Products
- VectorBuilder custom plasmid, inducible vectors for DEFB115
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DEFB115
- genomics-online: cdna clones - Search results for available DEFB115 gene related products
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for DEFB115
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DEFB115 Gene
Localization for DEFB115 Gene
Subcellular locations from UniProtKB/Swiss-Prot for DEFB115 Gene
- Secreted.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0009986 | cell surface | IBA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB115 Gene
Pathways & Interactions for DEFB115 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Defensins |
.82
.82
|
|
| 2 | Innate Immune System |
.61
|
|
Pathways by source for DEFB115 Gene
5 Reactome pathways for DEFB115 Gene
Interacting Proteins for DEFB115 Gene
GPS-Prot Interaction Network for DEFB115
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006952 | defense response | IEA | -- |
| GO:0042742 | defense response to bacterium | IEA,IBA | -- |
| GO:0045087 | innate immune response | IBA | -- |
No data available for SIGNOR curated interactions for DEFB115 Gene
Transcripts for DEFB115 Gene
mRNA/cDNA for DEFB115 Gene
- (1) Additional mRNA sequences :
- (1) REFSEQ mRNAs :
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000400552 267 bps (uc002wvp.1)
CRISPR Products
-
OriGene CRISPR knockouts for DEFB115
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DEFB115
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miRNA Products
Inhibitory RNA Products
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Clone Products
- VectorBuilder custom plasmid, inducible vectors for DEFB115
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for DEFB115
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DEFB115
- genomics-online: cdna clones - Search results for available DEFB115 gene related products
- orf clones - Search results for available DEFB115 gene related products
- Applied Biological Materials Clones for DEFB115
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for DEFB115 Gene
NURSA nuclear receptor signaling pathways regulating expression of DEFB115 Gene:
DEFB115SOURCE GeneReport for Unigene cluster for DEFB115 Gene:
Hs.580793Primer Products
-
OriGene qPCR primer pairs for DEFB115
- genomics-online: primer clones - Search results for available DEFB115 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DEFB115 Gene
Orthologs for DEFB115 Gene
This gene was present in the common ancestor of human and mouse.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | DEFB115 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Defb28 34 |
|
OneToOne |
- Species where no ortholog for DEFB115 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- cow (Bos Taurus)
- dog (Canis familiaris)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rat (Rattus norvegicus)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Evolution for DEFB115 Gene
- ENSEMBL:
- Gene Tree for DEFB115 (if available)
- TreeFam:
- Gene Tree for DEFB115 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for DEFB115: view image
Paralogs for DEFB115 Gene
(8) SIMAP similar genes for DEFB115 Gene using alignment to 1 proteins:
- DB115_HUMAN
No data available for Paralogs for DEFB115 Gene
Variants for DEFB115 Gene
| SNP ID | Clin | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000107068 | -- | 31,255,823(+) | C/T | upstream_transcript_variant | |
| rs1000209091 | -- | 31,259,437(+) | C/T | intron_variant | |
| rs1001513599 | -- | 31,257,860(+) | G/T | intron_variant | |
| rs1002055837 | -- | 31,258,036(+) | T/C | intron_variant | |
| rs1002303902 | -- | 31,258,859(+) | G/C | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv4298n100 | CNV | gain | 25217958 |
| dgv4299n100 | CNV | gain | 25217958 |
| dgv4300n100 | CNV | gain | 25217958 |
| esv2763228 | CNV | gain | 21179565 |
| esv3645643 | CNV | gain | 21293372 |
| esv3645644 | CNV | loss | 21293372 |
| esv3645645 | CNV | gain | 21293372 |
| nsv458960 | CNV | gain | 19166990 |
| nsv470546 | CNV | gain | 18288195 |
| nsv585909 | CNV | gain | 21841781 |
| nsv833951 | CNV | gain+loss | 17160897 |
| nsv964448 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
61.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.42;
9.22% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for DEFB115 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- DEFB115
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB115 Gene
Disorders for DEFB115 Gene
Additional Disease Information for DEFB115
No disorders were found for DEFB115 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFB115 Gene
Publications for DEFB115 Gene
- Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract. (PMID: 16033865) Patil AA … Zhang G (Physiological genomics 2005) 2 3 4 58
- Discovery of five conserved beta -defensin gene clusters using a computational search strategy. (PMID: 11854508) Schutte BC … McCray PB (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
- The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 58
Products for DEFB115 Gene
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- VectorBuilder custom plasmid, inducible vectors for DEFB115
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for available DEFB115 related products ranked by validation data
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- antibodies-online: Search results for 3 available DEFB115 Proteins ranked by validation data
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Sources for DEFB115 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio