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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 ... See more...
Aliases for DEFB130A Gene
Aliases for DEFB130A Gene
External Ids for DEFB130A Gene
- HGNC: 18107
- Entrez Gene: 245940
- Ensembl: ENSG00000232948
- UniProtKB: P0DP74
Previous HGNC Symbols for DEFB130A Gene
- DEFB130
Summaries for DEFB130A Gene
-
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]
GeneCards Summary for DEFB130A Gene
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.
UniProtKB/Swiss-Prot Summary for DEFB130A Gene
-
Antimicrobial host-defense peptide. Has an antiplasmodial activity.
Additional gene information for DEFB130A Gene
- HGNC(18107)
- Entrez Gene(245940)
- Ensembl(ENSG00000232948)
- UniProtKB(P0DP74)
- Open Targets Platform(ENSG00000232948)
- Search for DEFB130A at DataMed
- Search for DEFB130A at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DEFB130A Gene
Genomics for DEFB130A Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for DEFB130A 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| 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 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around DEFB130A on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DEFB130A
Genomic Locations for DEFB130A Gene
Genomic Locations for DEFB130A Gene
- chr8:12,310,962-12,318,316
- (GRCh38/hg38)
- Size:
- 7,355 bases
- Orientation:
- Minus strand
- chr8:12,168,471-12,175,825
- (GRCh37/hg19)
- Size:
- 7,355 bases
- Orientation:
- Minus strand
Genomic View for DEFB130A Gene
Genes around DEFB130A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8p23.1 by HGNC
- 8p23.1 by Entrez Gene
- 8p23.1 by Ensembl
DEFB130A 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 DEFB130A Gene
Proteins for DEFB130A Gene
-
Protein details for DEFB130A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P0DP74-D130A_HUMAN
- Recommended name:
- Beta-defensin 130A
- Protein Accession:
- P0DP74
- Q30KQ2
Protein attributes for DEFB130A Gene
- Size:
- 79 amino acids
- Molecular mass:
- 8736 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for DEFB130A Gene
No Post-translational modifications
Other Protein References for DEFB130A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
Protein Products
-
OriGene Purified Proteins for DEFB130A
- Search Origene for MassSpec and Protein Over-expression Lysates for DEFB130A
- Origene Custom Protein Services for DEFB130A
- antibodies-online: Show 4 available DEFB130 Proteins ranked by validation data
- Compare Top DEFB130 Proteins
-
Quality Products:
No data available for DME Specific Peptides for DEFB130A Gene
Domains & Families for DEFB130A Gene
Gene Families for DEFB130A Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted secreted proteins
Protein Domains for DEFB130A Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for DEFB130A Gene
- GenScript: Design optimal peptide antigens:
-
- Defensin, beta 130 (DB130_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P0DP74- Family:
-
- Belongs to the beta-defensin family.
Function for DEFB130A Gene
Molecular function for DEFB130A Gene
- UniProtKB/Swiss-Prot Function:
- Antimicrobial host-defense peptide. Has an antiplasmodial activity.
Phenotypes From GWAS Catalog for DEFB130A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0031731 | CCR6 chemokine receptor binding | IBA | 21873635 |
| GO:0042056 | chemoattractant activity | IBA | 21873635 |
Phenotypes for DEFB130A Gene
- GenomeRNAi human phenotypes for DEFB130A:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for DEFB130A - Select products 50% OFF >
- * DEFB130A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for DEFB130A
miRNA for DEFB130A Gene
- miRTarBase miRNAs that target DEFB130A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DEFB130A
- Browse OriGene Inhibitory RNA Products For DEFB130A
Clone Products
- Applied Biological Materials (abm): Clones for DEFB130A - Select products 50% OFF >
- * DEFB130A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
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Cell Line Products
-
Horizon Cell Lines for DEFB130A
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DEFB130A Gene
Localization for DEFB130A Gene
Subcellular locations from UniProtKB/Swiss-Prot for DEFB130A Gene
- Secreted.
| Compartment | Confidence |
|---|---|
| extracellular | 3 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005615 | extracellular space | IBA | 21873635 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB130A Gene
Pathways & Interactions for DEFB130A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Defensins |
.81
.81
|
|
| 2 | Innate Immune System |
.61
|
|
Pathways by source for DEFB130A Gene
5 Reactome pathways for DEFB130A Gene
Interacting Proteins for DEFB130A Gene
| 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 |
No data available for SIGNOR curated interactions for DEFB130A Gene
Transcripts for DEFB130A Gene
mRNA/cDNA for DEFB130A Gene
- 1 REFSEQ mRNAs :
- 1 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000400079 240 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for DEFB130A - Select products 50% OFF >
- * DEFB130A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for DEFB130A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DEFB130A
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Clone Products
- Applied Biological Materials (abm): Clones for DEFB130A - Select products 50% OFF >
- * DEFB130A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
Relevant External Links for DEFB130A Gene
- GeneLoc Exon Structure for
- DEFB130A
Expression for DEFB130A Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DEFB130A
mRNA Expression by UniProt/SwissProt for DEFB130A Gene:
P0DP74-D130A_HUMAN
Tissue specificity:
Expressed on differentiated macrophage phagocytizing plasmodium falciparum-parasitized erythrocytes.
Primer Products
-
OriGene qPCR primer pairs for DEFB130A
No data available for mRNA expression in normal human tissues , 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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DEFB130A Gene
Orthologs for DEFB130A Gene
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 |
- Species where no ortholog for DEFB130A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (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 DEFB130A Gene
- ENSEMBL:
- Gene Tree for DEFB130A (if available)
- TreeFam:
- Gene Tree for DEFB130A (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for DEFB130A: view image
Paralogs for DEFB130A Gene
Pseudogenes.org Pseudogenes for DEFB130A Gene
Variants for DEFB130A Gene
Additional Variant Information for DEFB130A Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- DEFB130A
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Variation tolerance for DEFB130A Gene
Disorders for DEFB130A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epididymis disease |
|
|
| vitreoretinal degeneration, snowflake type |
|
|
| eye degenerative disease |
|
|
Search DEFB130A in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for DEFB130A
No data available for UniProtKB/Swiss-Prot and Genatlas for DEFB130A Gene
Publications for DEFB130A Gene
- Involvement of β-defensin 130 (DEFB130) in the macrophage microbicidal mechanisms for killing Plasmodium falciparum. (PMID: 28181499) Terkawi MA … Kato K (Scientific reports 2017) 2 3 4
- 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
- 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
- Global mapping of herpesvirus-host protein complexes reveals a transcription strategy for late genes. (PMID: 25544563) Davis ZH … Glaunsinger BA (Molecular cell 2015) 3
- Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
ExternalLinks
Products for DEFB130A Gene
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for DEFB130A
- Search Origene for MassSpec and Protein Over-expression Lysates for DEFB130A
- Origene Custom Protein Services for DEFB130A
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DEFB130A
- Browse OriGene Inhibitory RNA Products For DEFB130A
- OriGene qPCR primer pairs for DEFB130A
- OriGene CRISPR knockouts for DEFB130A
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- VectorBuilder Custom and pre-made DNA vectors for DEFB130A (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for DEFB130A (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for DEFB130A (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for DEFB130A CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for DEFB130A
- antibodies-online: Search results for available DEFB130 related products ranked by validation data
- antibodies-online: Search results for available DEFB130 related products ranked by validation data
- antibodies-online: Show 4 available DEFB130 Proteins ranked by validation data
- Compare Top DEFB130 Proteins
- Quality Products:
- Horizon Cell Lines for DEFB130A
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for knockout CRISPR/Cas9 clones, lentivirus, and/or AAV products for DEFB130A
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- Search GeneCopoeia for miRNA 3'UTR Target clone products for DEFB130A
- Search GeneCopoeia for shRNA, lentivirus, and/or AAV clone products for DEFB130A
Sources for DEFB130A Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
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- (122) ENCODE
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- (124) Horizon
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- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
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- (152) DiseaseEnhancer
- (153) Boster Bio
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- (156) Mastermind
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- (159) GeneImprint
- (160) Synthego
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- (163) LncBase
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- (165) LNCipedia
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- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
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- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB