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Cellular Component
Molecular Function
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![]() Biological Process Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | antifungal innate immune response | | IDA | | 2290271 | (PMID:24449502) | UniProt | PMID:24449502 | defense response to bacterium | | IEA | UniProtKB-KW:KW-0044 | 2290271 | | UniProt | GO_REF:0000037 | defense response to Gram-negative bacterium | | IDA | | 2290271 | (PMID:24449502) | UniProt | PMID:24449502 | defense response to Gram-positive bacterium | | IDA | | 2290271 | (PMID:24449502) | UniProt | PMID:24449502 | innate immune response | | IDA | | 2290271 | (PMID:24449502) | UniProt | PMID:24449502 | innate immune response | | IEA | InterPro:IPR025933 | 2290271 | | InterPro | GO_REF:0000002 | |
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1. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | RGD automated import pipeline for gene-chemical interactions |
PubMed | 11780052 11786250 11790538 11854508 12128228 12477932 12975309 15489334 15772680 16710608 19423540 20406964 20438785 |
DEFB119 (Homo sapiens - human) |
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Defb19 (Mus musculus - house mouse) |
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Defb24 (Rattus norvegicus - Norway rat) |
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Defb119 (Chinchilla lanigera - long-tailed chinchilla) |
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DEFB119 (Pan paniscus - bonobo/pygmy chimpanzee) |
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DEFB119 (Canis lupus familiaris - dog) |
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LOC101955647 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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LOC100157086 (Sus scrofa - pig) |
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RH66091 |
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SHGC-31330 |
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The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
RefSeq Transcripts | NM_001271209 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_153289 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_153323 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_073151 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_073152 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_073153 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_126440 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AF479698 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF479699 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL031650 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL121751 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL732301 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW003815 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY122472 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY122473 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY358860 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY501001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC062212 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BI460707 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU561156 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471077 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HY035342 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_001271209 ⟹ NP_001258138 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
TACACACTGTCCTTTGGCCTGGATGACCTCATATAAATCCCCTCCTGTTCTAATTCACTGCCCAhide sequence |
RefSeq Acc Id: | NM_153289 ⟹ NP_695021 | ||||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
TACACACTGTCCTTTGGCCTGGATGACCTCATATAAATCCCCTCCTGTTCTAATTCACTGCCCAhide sequence |
RefSeq Acc Id: | NM_153323 ⟹ NP_697018 | ||||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
TACACACTGTCCTTTGGCCTGGATGACCTCATATAAATCCCCTCCTGTTCTAATTCACTGCCCAhide sequence |
RefSeq Acc Id: | NR_073151 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
TACACACTGTCCTTTGGCCTGGATGACCTCATATAAATCCCCTCCTGTTCTAATTCACTGCCCAhide sequence |
RefSeq Acc Id: | NR_073152 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
TACACACTGTCCTTTGGCCTGGATGACCTCATATAAATCCCCTCCTGTTCTAATTCACTGCCCAhide sequence |
RefSeq Acc Id: | NR_073153 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
TACACACTGTCCTTTGGCCTGGATGACCTCATATAAATCCCCTCCTGTTCTAATTCACTGCCCAhide sequence |
RefSeq Acc Id: | NR_126440 | ||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||
Type: | NON-CODING | ||||||||||||||
Position: |
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Sequence: |
TACACACTGTCCTTTGGCCTGGATGACCTCATATAAATCCCCTCCTGTTCTAATTCACTGCCCAhide sequence |
Protein RefSeqs | NP_001258138 | (Get FASTA) | NCBI Sequence Viewer |
NP_695021 | (Get FASTA) | NCBI Sequence Viewer | |
NP_697018 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH62212 | (Get FASTA) | NCBI Sequence Viewer |
AAM93914 | (Get FASTA) | NCBI Sequence Viewer | |
AAM93915 | (Get FASTA) | NCBI Sequence Viewer | |
AAQ05837 | (Get FASTA) | NCBI Sequence Viewer | |
AAQ05838 | (Get FASTA) | NCBI Sequence Viewer | |
AAQ89219 | (Get FASTA) | NCBI Sequence Viewer | |
AAS87295 | (Get FASTA) | NCBI Sequence Viewer | |
EAW76448 | (Get FASTA) | NCBI Sequence Viewer | |
EAW76449 | (Get FASTA) | NCBI Sequence Viewer | |
EAW76450 | (Get FASTA) | NCBI Sequence Viewer | |
EAW76451 | (Get FASTA) | NCBI Sequence Viewer | |
Q8N690 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_695021 ⟸ NM_153289 |
- Peptide Label: | isoform a precursor |
- UniProtKB: | Q8N690 (UniProtKB/Swiss-Prot) |
- Sequence: |
MKLLYLFLAILLAIEEPVISGKRHILRCMGNSGICRASCKKNEQPYLYCRNCQSCCLQSYMRIShide sequence |
RefSeq Acc Id: | NP_697018 ⟸ NM_153323 |
- Peptide Label: | isoform c precursor |
- UniProtKB: | Q8N690 (UniProtKB/Swiss-Prot) |
- Sequence: |
MKLLYLFLAILLAIEEPVISVECWMDGHCRLLCKDGEDSIIRCRNRKRCCVPSRYLTIQPVTIHhide sequence |
RefSeq Acc Id: | NP_001258138 ⟸ NM_001271209 |
- Peptide Label: | isoform d precursor |
- UniProtKB: | Q8N690 (UniProtKB/Swiss-Prot), Q5GRG0 (UniProtKB/TrEMBL) |
- Sequence: |
MKLLYLFLAILLAIEEPVISECWMDGHCRLLCKDGEDSIIRCRNRKRCCVPSRYLTIQPVTIHGhide sequence |
RGD ID: | 13206595 | |||||||||
Promoter ID: | EPDNEW_H26878 | |||||||||
Type: | initiation region | |||||||||
Name: | DEFB119_1 | |||||||||
Description: | defensin beta 119 | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Single-end sequencing. | |||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 20q11.21(chr20:31289875-32302312)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052792]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052792]|See cases [RCV000052792] | Chr20:31289875..32302312 [GRCh38] Chr20:29877678..30890115 [GRCh37] Chr20:29341339..30353776 [NCBI36] Chr20:20q11.21 |
uncertain significance |
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 | copy number gain | Hydronephrosis [RCV000052999]|See cases [RCV000052999] | Chr20:9811433..39316956 [GRCh38] Chr20:9792081..37945599 [GRCh37] Chr20:9740081..37379013 [NCBI36] Chr20:20p12.2-q12 |
pathogenic |
NM_153289.3(DEFB119):c.3G>A (p.Met1Ile) | single nucleotide variant | Malignant melanoma [RCV000072567] | Chr20:31390481 [GRCh38] Chr20:29978284 [GRCh37] Chr20:29441945 [NCBI36] Chr20:20q11.21 |
not provided |
GRCh38/hg38 20q11.21(chr20:30417576-31394018)x3 | copy number gain | See cases [RCV000133597] | Chr20:30417576..31394018 [GRCh38] Chr20:28265913..29445482 [NCBI36] Chr20:20q11.21 |
uncertain significance |
GRCh38/hg38 20q11.21(chr20:31254983-32575288)x3 | copy number gain | See cases [RCV000134504] | Chr20:31254983..32575288 [GRCh38] Chr20:29842786..31163090 [GRCh37] Chr20:29306447..30626751 [NCBI36] Chr20:20q11.21 |
pathogenic |
GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3 | copy number gain | See cases [RCV000135358] | Chr20:31254983..33473080 [GRCh38] Chr20:29842786..32060886 [GRCh37] Chr20:29306447..31524547 [NCBI36] Chr20:20q11.21 |
pathogenic |
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 | copy number gain | See cases [RCV000135859] | Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33 |
pathogenic |
GRCh38/hg38 20q11.21(chr20:31245583-32017285)x4 | copy number gain | See cases [RCV000138183] | Chr20:31245583..32017285 [GRCh38] Chr20:29833386..30605088 [GRCh37] Chr20:29297047..30068749 [NCBI36] Chr20:20q11.21 |
likely pathogenic |
GRCh38/hg38 20q11.21(chr20:31254983-31660401)x3 | copy number gain | See cases [RCV000141034] | Chr20:31254983..31660401 [GRCh38] Chr20:29842786..30248204 [GRCh37] Chr20:29306447..29711865 [NCBI36] Chr20:20q11.21 |
uncertain significance |
GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3 | copy number gain | See cases [RCV000240436] | Chr20:17705775..31600738 [GRCh37] Chr20:20p12.1-q11.21 |
pathogenic |
GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)x3 | copy number gain | See cases [RCV000448977] | Chr20:24162775..31820857 [GRCh37] Chr20:20p11.21-q11.21 |
likely pathogenic |
GRCh37/hg19 20q11.21(chr20:29877878-30231917)x3 | copy number gain | See cases [RCV000448484] | Chr20:29877878..30231917 [GRCh37] Chr20:20q11.21 |
likely benign |
GRCh37/hg19 20q11.21(chr20:29833535-30599771)x3 | copy number gain | See cases [RCV000511585] | Chr20:29833535..30599771 [GRCh37] Chr20:20q11.21 |
uncertain significance |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 | copy number gain | See cases [RCV000510832] | Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20q11.21(chr20:29425357-30226690)x3 | copy number gain | See cases [RCV000515558] | Chr20:29425357..30226690 [GRCh37] Chr20:20q11.21 |
uncertain significance |
GRCh37/hg19 20p11.21-q11.21(chr20:24876569-30494851)x3 | copy number gain | See cases [RCV000512500] | Chr20:24876569..30494851 [GRCh37] Chr20:20p11.21-q11.21 |
uncertain significance |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) | copy number gain | See cases [RCV000512450] | Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
Single allele | duplication | not provided [RCV000677978] | Chr20:17705775..31600738 [GRCh37] Chr20:20p12.1-q11.21 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 | copy number gain | not provided [RCV000741058] | Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 | copy number gain | not provided [RCV000741059] | Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20q11.21(chr20:29804293-29982948)x3 | copy number gain | not provided [RCV000741165] | Chr20:29804293..29982948 [GRCh37] Chr20:20q11.21 |
benign |
GRCh37/hg19 20q11.21(chr20:29843182-29992075)x3 | copy number gain | not provided [RCV000741166] | Chr20:29843182..29992075 [GRCh37] Chr20:20q11.21 |
benign |
GRCh37/hg19 20q11.21(chr20:29929692-30070239)x3 | copy number gain | not provided [RCV000741167] | Chr20:29929692..30070239 [GRCh37] Chr20:20q11.21 |
benign |
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 | copy number gain | not provided [RCV000741057] | Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3 | copy number gain | not provided [RCV000849735] | Chr20:29833608..35087952 [GRCh37] Chr20:20q11.21-11.23 |
pathogenic |
GRCh37/hg19 20q11.21(chr20:29835457-30232565)x3 | copy number gain | not provided [RCV000849469] | Chr20:29835457..30232565 [GRCh37] Chr20:20q11.21 |
uncertain significance |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:18099 | AgrOrtholog |
COSMIC | DEFB119 | COSMIC |
Ensembl Genes | ENSG00000180483 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000345768 | UniProtKB/Swiss-Prot |
ENSP00000365492 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENSP00000365499 | ENTREZGENE, UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000339144 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000376315 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENST00000376321 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENST00000492344 | ENTREZGENE | |
GTEx | ENSG00000180483 | GTEx |
HGNC ID | HGNC:18099 | ENTREZGENE |
Human Proteome Map | DEFB119 | Human Proteome Map |
InterPro | Beta_defensin | UniProtKB/Swiss-Prot |
KEGG Report | hsa:245932 | UniProtKB/Swiss-Prot |
NCBI Gene | 245932 | ENTREZGENE |
OMIM | 615997 | OMIM |
Pfam | Defensin_beta_2 | UniProtKB/Swiss-Prot |
PharmGKB | PA38495 | PharmGKB |
UniGene | Hs.516998 | ENTREZGENE |
Hs.743655 | ENTREZGENE | |
UniProt | DB119_HUMAN | UniProtKB/Swiss-Prot |
Q5GRG0 | ENTREZGENE, UniProtKB/TrEMBL | |
Q8N690 | ENTREZGENE | |
UniProt Secondary | Q5GRG1 | UniProtKB/Swiss-Prot |
Q5JWP1 | UniProtKB/Swiss-Prot | |
Q5TH42 | UniProtKB/Swiss-Prot | |
Q8N689 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2015-11-24 | DEFB119 | defensin beta 119 | defensin, beta 119 | Symbol and/or name change | 5135510 | APPROVED | |
2012-09-19 | DEFB119 | defensin, beta 119 | DEFB119 | defensin, beta 119 | Symbol and/or name change | 5135510 | APPROVED |
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More on DEFB119 | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
CRRD Object Information | |
CRRD ID: | 1606419 |
Created: | 2007-04-29 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.