DEFA5 (defensin alpha 5) - Rat Genome Database

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Gene: DEFA5 (defensin alpha 5) Homo sapiens
Analyze
Symbol: DEFA5
Name: defensin alpha 5
RGD ID: 1345754
HGNC Page HGNC:2764
Description: Enables protein homodimerization activity. Involved in several processes, including defense response to other organism; positive regulation of interleukin-8 production; and protein homotetramerization. Located in extracellular space; midbody; and secretory granule.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DEF5; defensin 5; defensin, alpha 5; defensin, alpha 5, Paneth cell-specific; defensin, alpha 5, preproprotein; defensin-5; HD-5; HD5(20-94); MGC129728
RGD Orthologs
Mouse
Rat
Bonobo
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3887,055,304 - 7,056,739 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl87,055,304 - 7,056,739 (-)EnsemblGRCh38hg38GRCh38
GRCh3786,912,826 - 6,914,261 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3686,900,239 - 6,901,669 (-)NCBINCBI36Build 36hg18NCBI36
Build 3486,900,238 - 6,901,669NCBI
Celera86,879,990 - 6,881,416 (-)NCBICelera
Cytogenetic Map8p23.1NCBI
HuRef86,654,020 - 6,655,446 (-)NCBIHuRef
CHM1_187,001,371 - 7,002,801 (-)NCBICHM1_1
T2T-CHM13v2.086,809,926 - 6,811,358 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1429669   PMID:8626737   PMID:8808285   PMID:9169779   PMID:9169780   PMID:9588893   PMID:12021776   PMID:12477932   PMID:12660734   PMID:15489334   PMID:15616305   PMID:16341674  
PMID:17088326   PMID:17132727   PMID:17207965   PMID:17250830   PMID:18191790   PMID:18258845   PMID:18394979   PMID:18435932   PMID:18499668   PMID:18635180   PMID:18782756   PMID:19080508  
PMID:19135873   PMID:19194307   PMID:19250512   PMID:19423540   PMID:19542459   PMID:19589339   PMID:19640840   PMID:19855381   PMID:20130047   PMID:20237496   PMID:20375624   PMID:20406964  
PMID:20438785   PMID:20452482   PMID:20629326   PMID:20673868   PMID:20819643   PMID:21125297   PMID:21672195   PMID:21734566   PMID:21861459   PMID:21873175   PMID:21873635   PMID:21988832  
PMID:22354633   PMID:22573326   PMID:23028850   PMID:23163963   PMID:23269786   PMID:23620768   PMID:23841778   PMID:23958301   PMID:24086683   PMID:24165598   PMID:24198413   PMID:24681099  
PMID:25196670   PMID:25354318   PMID:25430675   PMID:25433720   PMID:25517613   PMID:25540379   PMID:25664683   PMID:25782105   PMID:25970658   PMID:26206286   PMID:27160989   PMID:27636409  
PMID:28077642   PMID:28106297   PMID:28119475   PMID:28514442   PMID:28817680   PMID:29193023   PMID:30004111   PMID:30187138   PMID:30542108   PMID:30808760   PMID:31611271   PMID:32086815  
PMID:32089753   PMID:32296183   PMID:32918875   PMID:33503272   PMID:33690604   PMID:33961781   PMID:34105106   PMID:34487729   PMID:36632813   PMID:37277970   PMID:37598668   PMID:37861034  
PMID:38330831  


Genomics

Comparative Map Data
DEFA5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3887,055,304 - 7,056,739 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl87,055,304 - 7,056,739 (-)EnsemblGRCh38hg38GRCh38
GRCh3786,912,826 - 6,914,261 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3686,900,239 - 6,901,669 (-)NCBINCBI36Build 36hg18NCBI36
Build 3486,900,238 - 6,901,669NCBI
Celera86,879,990 - 6,881,416 (-)NCBICelera
Cytogenetic Map8p23.1NCBI
HuRef86,654,020 - 6,655,446 (-)NCBIHuRef
CHM1_187,001,371 - 7,002,801 (-)NCBICHM1_1
T2T-CHM13v2.086,809,926 - 6,811,358 (-)NCBIT2T-CHM13v2.0
Defa21
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39821,515,561 - 21,516,533 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl821,515,561 - 21,516,532 (+)EnsemblGRCm39 Ensembl
GRCm38821,025,545 - 21,026,517 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl821,025,545 - 21,026,516 (+)EnsemblGRCm38mm10GRCm38
MGSCv37822,165,224 - 22,166,196 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36822,520,296 - 22,521,268 (+)NCBIMGSCv36mm8
Celera822,918,740 - 22,919,712 (+)NCBICelera
Cytogenetic Map8A2NCBI
cM Map810.35NCBI
Defa5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81677,044,994 - 77,047,318 (-)NCBIGRCr8
mRatBN7.21670,342,530 - 70,344,854 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1670,342,530 - 70,344,836 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1675,616,245 - 75,618,551 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01679,069,107 - 79,071,419 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01674,318,539 - 74,320,851 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01675,338,050 - 75,340,401 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1675,338,052 - 75,340,360 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01674,952,566 - 74,954,917 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41675,024,375 - 75,026,675 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11675,024,639 - 75,026,940 (-)NCBI
Celera1668,215,238 - 68,217,544 (-)NCBICelera
Cytogenetic Map16q12.5NCBI
LOC100991118
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2721,915,839 - 21,917,139 (-)NCBINHGRI_mPanPan1-v2
Mhudiblu_PPA_v08264,298 - 265,962 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
DEFA5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_023669959743 - 2,256 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in DEFA5
9 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7022782-8273167)x1 copy number loss See cases [RCV000050650] Chr8:7022782..8273167 [GRCh38]
Chr8:6880304..8130689 [GRCh37]
Chr8:6867714..8168099 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050620]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050620]|See cases [RCV000050620] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1 copy number loss See cases [RCV000050621] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3 copy number gain See cases [RCV000053603] Chr8:241530..17678697 [GRCh38]
Chr8:191530..17536206 [GRCh37]
Chr8:181530..17580486 [NCBI36]
Chr8:8p23.3-22		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:2475295-7895064)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053605]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053605]|See cases [RCV000053605] Chr8:2475295..7895064 [GRCh38]
Chr8:2292235..7752586 [GRCh37]
Chr8:2193565..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3 copy number gain See cases [RCV000053600] Chr8:96310..12021806 [GRCh38]
Chr8:46310..11879315 [GRCh37]
Chr8:36310..11916724 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:219853-10165486)x3 copy number gain See cases [RCV000053601] Chr8:219853..10165486 [GRCh38]
Chr8:169853..10022996 [GRCh37]
Chr8:159853..10060406 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:219853-7084815)x1 copy number loss See cases [RCV000054206] Chr8:219853..7084815 [GRCh38]
Chr8:169853..6942337 [GRCh37]
Chr8:159853..6929747 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7195723)x1 copy number loss See cases [RCV000054219] Chr8:241530..7195723 [GRCh38]
Chr8:191530..7053245 [GRCh37]
Chr8:181530..7040655 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3 copy number gain See cases [RCV000050620] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7022782-8222398)x3 copy number gain See cases [RCV000133631] Chr8:7022782..8222398 [GRCh38]
Chr8:6880304..8079920 [GRCh37]
Chr8:6867714..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7022782-7895064)x1 copy number loss See cases [RCV000133718] Chr8:7022782..7895064 [GRCh38]
Chr8:6880304..7752586 [GRCh37]
Chr8:6867714..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:410369-7477103)x1 copy number loss See cases [RCV000135293] Chr8:410369..7477103 [GRCh38]
Chr8:360369..7334625 [GRCh37]
Chr8:350369..7322035 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-10191595)x1 copy number loss See cases [RCV000134879] Chr8:241530..10191595 [GRCh38]
Chr8:191530..10049105 [GRCh37]
Chr8:181530..10086515 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-10867132)x1 copy number loss See cases [RCV000135534] Chr8:241530..10867132 [GRCh38]
Chr8:191530..10724642 [GRCh37]
Chr8:181530..10762052 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2		 pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 copy number gain See cases [RCV000135967] Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7056554)x1 copy number loss See cases [RCV000136824] Chr8:241530..7056554 [GRCh38]
Chr8:191530..6914076 [GRCh37]
Chr8:181530..6901486 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:782690-8222398)x3 copy number gain See cases [RCV000137206] Chr8:782690..8222398 [GRCh38]
Chr8:732690..8079920 [GRCh37]
Chr8:722690..8117330 [NCBI36]
Chr8:8p23.3-23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3 copy number gain See cases [RCV000137984] Chr8:226452..12712987 [GRCh38]
Chr8:176452..12570496 [GRCh37]
Chr8:166452..12614867 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:226452-7981437)x3 copy number gain See cases [RCV000138228] Chr8:226452..7981437 [GRCh38]
Chr8:176452..7838959 [GRCh37]
Chr8:166452..7876369 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|likely benign
GRCh38/hg38 8p23.3-23.1(chr8:226452-7062751)x1 copy number loss See cases [RCV000139342] Chr8:226452..7062751 [GRCh38]
Chr8:176452..6920273 [GRCh37]
Chr8:166452..6907683 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:226452-7084815)x1 copy number loss See cases [RCV000139442] Chr8:226452..7084815 [GRCh38]
Chr8:176452..6942337 [GRCh37]
Chr8:166452..6929747 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.2-23.1(chr8:3934205-11526939)x1 copy number loss See cases [RCV000138943] Chr8:3934205..11526939 [GRCh38]
Chr8:3791727..11384448 [GRCh37]
Chr8:3779135..11421857 [NCBI36]
Chr8:8p23.2-23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7022765-8222390)x3 copy number gain See cases [RCV000138990] Chr8:7022765..8222390 [GRCh38]
Chr8:6880287..8079912 [GRCh37]
Chr8:6867697..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7022765-8222390)x1 copy number loss See cases [RCV000138991] Chr8:7022765..8222390 [GRCh38]
Chr8:6880287..8079912 [GRCh37]
Chr8:6867697..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:208048-7124466)x1 copy number loss See cases [RCV000140443] Chr8:208048..7124466 [GRCh38]
Chr8:158048..6981988 [GRCh37]
Chr8:148048..6969398 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:208048-7141592)x1 copy number loss See cases [RCV000139890] Chr8:208048..7141592 [GRCh38]
Chr8:158048..6999114 [GRCh37]
Chr8:148048..6986524 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3 copy number gain See cases [RCV000141418] Chr8:226452..16280146 [GRCh38]
Chr8:176452..16137655 [GRCh37]
Chr8:166452..16182026 [NCBI36]
Chr8:8p23.3-22		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1(chr8:6786638-8364508)x3 copy number gain See cases [RCV000142961] Chr8:6786638..8364508 [GRCh38]
Chr8:6644159..8222024 [GRCh37]
Chr8:6631569..8259434 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)x1 copy number loss See cases [RCV000142596] Chr8:241530..10458484 [GRCh38]
Chr8:191530..10315994 [GRCh37]
Chr8:181530..10353404 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:208048-7141698)x3 copy number gain See cases [RCV000143378] Chr8:208048..7141698 [GRCh38]
Chr8:158048..6999220 [GRCh37]
Chr8:148048..6986630 [NCBI36]
Chr8:8p23.3-23.1		 uncertain significance
GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3 copy number gain See cases [RCV000143248] Chr8:226452..12698554 [GRCh38]
Chr8:176452..12556063 [GRCh37]
Chr8:166452..12600434 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:208048-7186524)x4 copy number gain See cases [RCV000143758] Chr8:208048..7186524 [GRCh38]
Chr8:158048..7044046 [GRCh37]
Chr8:148048..7031456 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:208048-7087252)x1 copy number loss See cases [RCV000143507] Chr8:208048..7087252 [GRCh38]
Chr8:158048..6944774 [GRCh37]
Chr8:148048..6932184 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1 copy number loss See cases [RCV000148253] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158991-13304906)x3 copy number gain See cases [RCV000240124] Chr8:158991..13304906 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-6944233)x1 copy number loss See cases [RCV000446038] Chr8:158048..6944233 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:194617-13947374) copy number gain not provided [RCV000767676] Chr8:194617..13947374 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:164984-11860845)x3 copy number gain See cases [RCV000239409] Chr8:164984..11860845 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4 copy number gain See cases [RCV000448695] Chr8:158991..17536147 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-6999114)x1 copy number loss See cases [RCV000447872] Chr8:158048..6999114 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:1166068-12570914)x3 copy number gain See cases [RCV000448692] Chr8:1166068..12570914 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-13309069)x1 copy number loss See cases [RCV000510201] Chr8:158048..13309069 [GRCh37]
Chr8:8p23.3-22		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-6982980)x1 copy number loss See cases [RCV000510343] Chr8:158048..6982980 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-6999114)x3 copy number gain See cases [RCV000511784] Chr8:158048..6999114 [GRCh37]
Chr8:8p23.3-23.1		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-9749574)x1 copy number loss See cases [RCV000510827] Chr8:158048..9749574 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-7044046)x1 copy number loss See cases [RCV000511133] Chr8:158048..7044046 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
Single allele deletion not provided [RCV000768453] Chr8:155001..6955001 [GRCh37]
Chr8:8p23.3-23.1		 likely pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3 copy number gain not provided [RCV000683039] Chr8:158048..13974319 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:168483-13147575)x1,2 copy number gain not provided [RCV000683037] Chr8:168483..13147575 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-15423270)x3 copy number gain not provided [RCV000683040] Chr8:158048..15423270 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-10939681)x1 copy number loss not provided [RCV000683036] Chr8:158048..10939681 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-6999114)x1 copy number loss not provided [RCV000683032] Chr8:158048..6999114 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-9750676)x3 copy number gain not provided [RCV000683034] Chr8:158048..9750676 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:10213-8948469)x1 copy number loss not provided [RCV000747246] Chr8:10213..8948469 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:10213-10197718)x1 copy number loss not provided [RCV000747247] Chr8:10213..10197718 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:164984-10007227)x1 copy number loss not provided [RCV000747253] Chr8:164984..10007227 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:176814-7753583)x1 copy number loss not provided [RCV000762736] Chr8:176814..7753583 [GRCh37]
Chr8:8p23.3-23.1		 likely pathogenic
NM_021010.3(DEFA5):c.212G>A (p.Arg71His) single nucleotide variant not provided [RCV000961155] Chr8:7055504 [GRCh38]
Chr8:6913026 [GRCh37]
Chr8:8p23.1		 benign
GRCh37/hg19 8p23.3-23.1(chr8:194617-7787444) copy number loss Tetralogy of Fallot [RCV000767677] Chr8:194617..7787444 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-6940661)x1 copy number loss not provided [RCV000846153] Chr8:158048..6940661 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-14214722)x1 copy number loss not provided [RCV000847768] Chr8:158048..14214722 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-9393052)x1 copy number loss not provided [RCV000845663] Chr8:158048..9393052 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-8102819)x3 copy number gain not provided [RCV001006042] Chr8:158048..8102819 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.2-23.1(chr8:5887223-6999114)x1 copy number loss not provided [RCV001006057] Chr8:5887223..6999114 [GRCh37]
Chr8:8p23.2-23.1		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-6969688)x1 copy number loss not provided [RCV000846342] Chr8:158048..6969688 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-6984438)x1 copy number loss not provided [RCV000847001] Chr8:158048..6984438 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_021010.3(DEFA5):c.203G>A (p.Arg68Gln) single nucleotide variant Inborn genetic diseases [RCV003249345] Chr8:7055513 [GRCh38]
Chr8:6913035 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh37/hg19 8p23.1(chr8:6284373-9047178)x3 copy number gain not provided [RCV002472889] Chr8:6284373..9047178 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-9025197)x1 copy number loss not provided [RCV001006043] Chr8:158048..9025197 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:176814-11472913)x1 copy number loss Cerebellar ataxia [RCV001251057] Chr8:176814..11472913 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.2-23.1(chr8:2308926-6939296)x3 copy number gain Short stature [RCV001004812] Chr8:2308926..6939296 [GRCh37]
Chr8:8p23.2-23.1		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:411691-6999114)x1 copy number loss not provided [RCV001258401] Chr8:411691..6999114 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:10501-7214947)x1 copy number loss Obesity [RCV001801195] Chr8:10501..7214947 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-11936107)x3 copy number gain not provided [RCV001827598] Chr8:158048..11936107 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.1(chr8:6904643-6999114)x1 copy number loss not provided [RCV001836529] Chr8:6904643..6999114 [GRCh37]
Chr8:8p23.1		 likely benign
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-10348413) copy number gain Neurodevelopmental delay [RCV002280754] Chr8:158048..10348413 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 copy number loss See cases [RCV002286343] Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12		 pathogenic
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-11281408)x1 copy number loss See cases [RCV002287568] Chr8:158048..11281408 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1 copy number loss not provided [RCV002472557] Chr8:158049..18936715 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158049-10965627)x1 copy number loss not provided [RCV002474566] Chr8:158049..10965627 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_021010.3(DEFA5):c.208G>A (p.Gly70Ser) single nucleotide variant Inborn genetic diseases [RCV002712220] Chr8:7055508 [GRCh38]
Chr8:6913030 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_021010.3(DEFA5):c.106G>A (p.Gly36Arg) single nucleotide variant Inborn genetic diseases [RCV002892978] Chr8:7056592 [GRCh38]
Chr8:6914114 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_021010.3(DEFA5):c.25G>A (p.Ala9Thr) single nucleotide variant Inborn genetic diseases [RCV002832243] Chr8:7056673 [GRCh38]
Chr8:6914195 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_021010.3(DEFA5):c.40G>A (p.Ala14Thr) single nucleotide variant Inborn genetic diseases [RCV002831790] Chr8:7056658 [GRCh38]
Chr8:6914180 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_021010.3(DEFA5):c.223C>T (p.Arg75Cys) single nucleotide variant Inborn genetic diseases [RCV002722516] Chr8:7055493 [GRCh38]
Chr8:6913015 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1 copy number loss Neurodevelopmental disorder [RCV003327729] Chr8:449893..23854904 [GRCh38]
Chr8:8p23.3-21.2		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:10501-11142629)x1 copy number loss See cases [RCV003329533] Chr8:10501..11142629 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_021010.3(DEFA5):c.125T>G (p.Leu42Arg) single nucleotide variant Inborn genetic diseases [RCV003361780] Chr8:7056573 [GRCh38]
Chr8:6914095 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158049-8192683)x1 copy number loss not provided [RCV003483000] Chr8:158049..8192683 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
Single allele deletion not provided [RCV003448707] Chr8:162266..7226691 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 copy number gain not provided [RCV003484713] Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158049-8093066)x1 copy number loss not provided [RCV003482997] Chr8:158049..8093066 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.2-23.1(chr8:6016801-6999114)x3 copy number gain not provided [RCV003484717] Chr8:6016801..6999114 [GRCh37]
Chr8:8p23.2-23.1		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158049-7044046)x3 copy number gain not provided [RCV003484711] Chr8:158049..7044046 [GRCh37]
Chr8:8p23.3-23.1		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1 copy number loss not provided [RCV003482999] Chr8:158049..11898696 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158049-10007143)x1 copy number loss not provided [RCV003482998] Chr8:158049..10007143 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.1(chr8:6566202-6999114)x1 copy number loss not provided [RCV003483013] Chr8:6566202..6999114 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3 copy number gain not specified [RCV003986756] Chr8:158048..41600696 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:82
Count of miRNA genes:81
Interacting mature miRNAs:82
Transcripts:ENST00000330590
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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.

Markers in Region
RH17763  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3786,912,917 - 6,913,046UniSTSGRCh37
Build 3686,900,327 - 6,900,456RGDNCBI36
Celera86,880,078 - 6,880,207RGD
Cytogenetic Map8p23.1UniSTS
HuRef86,654,108 - 6,654,237UniSTS
GeneMap99-GB4 RH Map853.1UniSTS
NCBI RH Map892.4UniSTS
UniSTS:484029  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3786,912,906 - 6,914,252UniSTSGRCh37
Celera86,880,067 - 6,881,409UniSTS
HuRef86,654,097 - 6,655,439UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 164 149 1 1
Medium 119 10 7 3 40 1 8 4 8 4 7 2 1 6
Low 506 441 331 100 212 52 612 255 563 15 342 265 48 196 409 1 1
Below cutoff 505 580 328 111 311 70 766 435 1392 42 349 243 41 189 468

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000330590   ⟹   ENSP00000329890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl87,055,304 - 7,056,739 (-)Ensembl
RefSeq Acc Id: NM_021010   ⟹   NP_066290
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3887,055,304 - 7,056,739 (-)NCBI
GRCh3786,912,829 - 6,914,259 (-)ENTREZGENE
Build 3686,900,239 - 6,901,669 (-)NCBI Archive
HuRef86,654,020 - 6,655,446 (-)ENTREZGENE
CHM1_187,001,364 - 7,002,803 (-)NCBI
T2T-CHM13v2.086,809,926 - 6,811,358 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_066290 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35754 (Get FASTA)   NCBI Sequence Viewer  
  AAH69690 (Get FASTA)   NCBI Sequence Viewer  
  AAI07080 (Get FASTA)   NCBI Sequence Viewer  
  AAT68886 (Get FASTA)   NCBI Sequence Viewer  
  EAW80489 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000329890
  ENSP00000329890.2
  ENSP00000494799.1
GenBank Protein Q01523 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_066290   ⟸   NM_021010
- Peptide Label: preproprotein
- UniProtKB: A0JDY6 (UniProtKB/Swiss-Prot),   Q3KNV2 (UniProtKB/Swiss-Prot),   Q01523 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000329890   ⟸   ENST00000330590

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q01523-F1-model_v2 AlphaFold Q01523 1-94 view protein structure

Promoters
RGD ID:7212561
Promoter ID:EPDNEW_H12027
Type:multiple initiation site
Name:DEFA5_1
Description:defensin alpha 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3887,056,737 - 7,056,797EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2764 AgrOrtholog
COSMIC DEFA5 COSMIC
Ensembl Genes ENSG00000164816 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000285251 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000330590 ENTREZGENE
  ENST00000330590.4 UniProtKB/Swiss-Prot
  ENST00000647159.2 UniProtKB/Swiss-Prot
GTEx ENSG00000164816 GTEx
  ENSG00000285251 GTEx
HGNC ID HGNC:2764 ENTREZGENE
Human Proteome Map DEFA5 Human Proteome Map
InterPro Alpha-defensin UniProtKB/Swiss-Prot
  Alpha-defensin_pro UniProtKB/Swiss-Prot
  Defensin_beta/alpha UniProtKB/Swiss-Prot
  Defensin_propep UniProtKB/Swiss-Prot
KEGG Report hsa:1670 UniProtKB/Swiss-Prot
NCBI Gene 1670 ENTREZGENE
OMIM 600472 OMIM
PANTHER DEFENSIN-5 UniProtKB/Swiss-Prot
  PTHR11876 UniProtKB/Swiss-Prot
Pfam Defensin_1 UniProtKB/Swiss-Prot
  Defensin_propep UniProtKB/Swiss-Prot
PharmGKB PA27241 PharmGKB
PIRSF Alpha-defensin UniProtKB/Swiss-Prot
PROSITE DEFENSIN UniProtKB/Swiss-Prot
SMART Defensin_propep UniProtKB/Swiss-Prot
  DEFSN UniProtKB/Swiss-Prot
Superfamily-SCOP Defensin-like UniProtKB/Swiss-Prot
UniProt A0JDY6 ENTREZGENE
  DEF5_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q3KNV2 ENTREZGENE
UniProt Secondary A0JDY6 UniProtKB/Swiss-Prot
  Q3KNV2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 DEFA5  defensin alpha 5  DEFA5  defensin, alpha 5, Paneth cell-specific  Symbol and/or name change 5135510 APPROVED