DEFA4 (defensin alpha 4) - Rat Genome Database

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Gene: DEFA4 (defensin alpha 4) Homo sapiens
Analyze
Symbol: DEFA4
Name: defensin alpha 4
RGD ID: 1353794
HGNC Page HGNC:2763
Description: Enables protein homodimerization activity. Involved in T cell chemotaxis; antimicrobial humoral immune response mediated by antimicrobial peptide; and innate immune response. Located in azurophil granule.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: corticostatin; corticostatin HP-4; DEF4; defensin, alpha 4; defensin, alpha 4, corticostatin; defensin, alpha 4, preproprotein; HNP-4; HP-4; HP4; MGC120099; MGC138296; neutrophil defensin 4
RGD Orthologs
Mouse
Rat
Bonobo
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3886,935,820 - 6,938,306 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl86,935,820 - 6,938,306 (-)EnsemblGRCh38hg38GRCh38
GRCh3786,793,342 - 6,795,828 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3686,780,755 - 6,783,196 (-)NCBINCBI36Build 36hg18NCBI36
Build 3486,780,754 - 6,783,196NCBI
Celera86,770,132 - 6,772,573 (-)NCBICelera
Cytogenetic Map8p23.1NCBI
HuRef86,572,881 - 6,575,322 (-)NCBIHuRef
CHM1_186,882,470 - 6,884,911 (-)NCBICHM1_1
T2T-CHM13v2.086,690,512 - 6,692,998 (-)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:2500436   PMID:2501794   PMID:2843187   PMID:8469233   PMID:12477932   PMID:15616305   PMID:15620707   PMID:17088326   PMID:17132727   PMID:19135873   PMID:19194307   PMID:19363140  
PMID:19423540   PMID:20016407   PMID:20056178   PMID:20237496   PMID:20406964   PMID:20438785   PMID:20727496   PMID:21734341   PMID:21873635   PMID:23050799   PMID:29446150   PMID:30658057  


Genomics

Comparative Map Data
DEFA4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3886,935,820 - 6,938,306 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl86,935,820 - 6,938,306 (-)EnsemblGRCh38hg38GRCh38
GRCh3786,793,342 - 6,795,828 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3686,780,755 - 6,783,196 (-)NCBINCBI36Build 36hg18NCBI36
Build 3486,780,754 - 6,783,196NCBI
Celera86,770,132 - 6,772,573 (-)NCBICelera
Cytogenetic Map8p23.1NCBI
HuRef86,572,881 - 6,575,322 (-)NCBIHuRef
CHM1_186,882,470 - 6,884,911 (-)NCBICHM1_1
T2T-CHM13v2.086,690,512 - 6,692,998 (-)NCBIT2T-CHM13v2.0
Defa31
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39821,681,589 - 21,682,566 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl821,681,630 - 21,682,565 (+)EnsemblGRCm39 Ensembl
GRCm38821,191,573 - 21,192,550 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl821,191,614 - 21,192,549 (+)EnsemblGRCm38mm10GRCm38
MGSCv37822,331,252 - 22,332,229 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36822,686,366 - 22,686,536 (+)NCBIMGSCv36mm8
Celera820,990,359 - 20,991,328 (-)NCBICelera
Cytogenetic Map8A2NCBI
cM Map810.35NCBI
Np4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81677,197,061 - 77,199,713 (-)NCBIGRCr8
mRatBN7.21670,494,607 - 70,497,261 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1670,342,529 - 70,497,202 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1675,771,469 - 75,774,026 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01679,217,054 - 79,219,596 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01674,466,481 - 74,469,025 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01675,478,548 - 75,481,146 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1675,414,786 - 75,481,115 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01675,079,890 - 75,082,489 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41675,284,693 - 75,337,014 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11675,284,957 - 75,337,279 (-)NCBI
Celera1668,357,038 - 68,359,592 (-)NCBICelera
Cytogenetic Map16q12.5NCBI
DEFA4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2721,738,846 - 21,741,331 (-)NCBINHGRI_mPanPan1-v2
Mhudiblu_PPA_v08344,350 - 346,835 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.186,938,152 - 6,940,669 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl86,938,152 - 6,940,669 (-)Ensemblpanpan1.1panPan2
DEFA4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366605448,826,975 - 48,836,477 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in DEFA4
13 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 8p23.3-23.1(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 8p23.3-23.1(chr8:241530-7022841)x1 copy number loss See cases [RCV000050427] Chr8:241530..7022841 [GRCh38]
Chr8:191530..6880363 [GRCh37]
Chr8:181530..6867773 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 8p23.2-23.1(chr8:4975829-7022841)x3 copy number gain See cases [RCV000051073] Chr8:4975829..7022841 [GRCh38]
Chr8:4833351..6880363 [GRCh37]
Chr8:4820759..6867773 [NCBI36]
Chr8:8p23.2-23.1		 uncertain significance
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
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
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 8p23.3-23.1(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 8p23.1(chr8:6872995-6937548)x1 copy number loss See cases [RCV000135867] Chr8:6872995..6937548 [GRCh38]
Chr8:6730517..6795070 [GRCh37]
Chr8:6717927..6782480 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x3 copy number gain See cases [RCV000135437] Chr8:241530..7022841 [GRCh38]
Chr8:191530..6880363 [GRCh37]
Chr8:181530..6867773 [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(chr8:241605-7022824)x3 copy number gain See cases [RCV000135993] Chr8:241605..7022824 [GRCh38]
Chr8:191605..6880346 [GRCh37]
Chr8:181605..6867756 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x1 copy number loss See cases [RCV000135994] Chr8:241605..7022824 [GRCh38]
Chr8:191605..6880346 [GRCh37]
Chr8:181605..6867756 [NCBI36]
Chr8:8p23.3-23.1		 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 8p23.3-23.1(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 8p23.2-23.1(chr8:2605460-7026475)x3 copy number gain See cases [RCV000140846] Chr8:2605460..7026475 [GRCh38]
Chr8:2498609..6883997 [GRCh37]
Chr8:2393844..6871407 [NCBI36]
Chr8:8p23.2-23.1		 uncertain significance
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(chr8:241530-7022841)x1 copy number loss See cases [RCV000148128] Chr8:241530..7022841 [GRCh38]
Chr8:191530..6880363 [GRCh37]
Chr8:181530..6867773 [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 8p23.3-23.1(chr8:184617-6804328) copy number gain not provided [RCV000767678] Chr8:184617..6804328 [GRCh37]
Chr8:8p23.3-23.1		 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
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(chr8:194617-6816918) copy number loss Autism [RCV000626544] Chr8:194617..6816918 [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 8p23.3-23.1(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(chr8:158048-10939681)x1 copy number loss not provided [RCV000683036] Chr8:158048..10939681 [GRCh37]
Chr8:8p23.3-23.1		 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 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3 copy number gain not provided [RCV000683039] Chr8:158048..13974319 [GRCh37]
Chr8:8p23.3-22		 pathogenic
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-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-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-23.1(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
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-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..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 8p23.3-23.1(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(chr8:158048-6828766)x1 copy number loss not provided [RCV000849211] Chr8:158048..6828766 [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
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(chr8:158048-8102819)x3 copy number gain not provided [RCV001006042] Chr8:158048..8102819 [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 8p23.3-23.1(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(chr8:5887223-6999114)x1 copy number loss not provided [RCV001006057] Chr8:5887223..6999114 [GRCh37]
Chr8:8p23.2-23.1		 uncertain significance
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 8p23.3-23.1(chr8:411691-6999114)x1 copy number loss not provided [RCV001258401] Chr8:411691..6999114 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-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(chr8:10501-7214947)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 8p23.3-23.1(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 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21		 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
NM_001925.3(DEFA4):c.79G>A (p.Asp27Asn) single nucleotide variant not specified [RCV004318554] Chr8:6936821 [GRCh38]
Chr8:6794343 [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(chr8:158049-10965627)x1 copy number loss not provided [RCV002474566] Chr8:158049..10965627 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_001925.3(DEFA4):c.88C>T (p.Pro30Ser) single nucleotide variant not specified [RCV004290981] Chr8:6936812 [GRCh38]
Chr8:6794334 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_001925.3(DEFA4):c.284G>A (p.Arg95His) single nucleotide variant not specified [RCV004097054] Chr8:6936030 [GRCh38]
Chr8:6793552 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_001925.3(DEFA4):c.104G>A (p.Arg35His) single nucleotide variant not specified [RCV004223309] Chr8:6936796 [GRCh38]
Chr8:6794318 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_001925.3(DEFA4):c.167T>C (p.Val56Ala) single nucleotide variant not specified [RCV004103290] Chr8:6936733 [GRCh38]
Chr8:6794255 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_001925.3(DEFA4):c.161T>C (p.Leu54Pro) single nucleotide variant not specified [RCV004096668] Chr8:6936739 [GRCh38]
Chr8:6794261 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_001925.3(DEFA4):c.131T>C (p.Ile44Thr) single nucleotide variant not specified [RCV004277977] Chr8:6936769 [GRCh38]
Chr8:6794291 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_001925.3(DEFA4):c.13G>A (p.Ala5Thr) single nucleotide variant not specified [RCV004330833] Chr8:6936887 [GRCh38]
Chr8:6794409 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_001925.3(DEFA4):c.50T>C (p.Val17Ala) single nucleotide variant not specified [RCV004248247] Chr8:6936850 [GRCh38]
Chr8:6794372 [GRCh37]
Chr8:8p23.1		 likely benign
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
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 8p23.3-23.1(chr8:158049-7044046)x3 copy number gain not provided [RCV003484711] Chr8:158049..7044046 [GRCh37]
Chr8:8p23.3-23.1		 uncertain significance
Single allele deletion not provided [RCV003448707] Chr8:162266..7226691 [GRCh37]
Chr8:8p23.3-23.1		 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 8p23.3-23.1(chr8:158049-8192683)x1 copy number loss not provided [RCV003483000] Chr8:158049..8192683 [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 8p23.2-11.21(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(chr8:158049-10007143)x1 copy number loss not provided [RCV003482998] Chr8:158049..10007143 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
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-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
GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3 copy number gain See cases [RCV004442825] Chr8:158049..16225393 [GRCh37]
Chr8:8p23.3-22		 pathogenic
NM_001925.3(DEFA4):c.53G>A (p.Arg18Gln) single nucleotide variant not specified [RCV004368186] Chr8:6936847 [GRCh38]
Chr8:6794369 [GRCh37]
Chr8:8p23.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:77
Count of miRNA genes:76
Interacting mature miRNAs:76
Transcripts:ENST00000297435
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407056370GWAS705346_Hmonocyte count QTL GWAS705346 (human)5e-13monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)869360186936019Human
407167638GWAS816614_Hneutrophil measurement QTL GWAS816614 (human)4e-40neutrophil measurement869364976936498Human
406963129GWAS612105_Hbasophil percentage of leukocytes QTL GWAS612105 (human)8e-19basophil percentage of leukocytesblood basophil count to total leukocyte count ratio (CMO:0000368)869364976936498Human
407193612GWAS842588_Hneutrophil measurement QTL GWAS842588 (human)1e-27neutrophil measurement869373456937346Human
407054047GWAS703023_Hmonocyte percentage of leukocytes QTL GWAS703023 (human)4e-17monocyte percentage of leukocytesblood monocyte count to total leukocyte count ratio (CMO:0000374)869364976936498Human
407167176GWAS816152_Hneutrophil measurement QTL GWAS816152 (human)7e-80neutrophil measurement869365926936593Human
406963644GWAS612620_Hbasophil count QTL GWAS612620 (human)2e-21basophil quantity (VT:0002607)blood basophil count (CMO:0000034)869364976936498Human

Markers in Region
SHGC-132038  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3786,793,409 - 6,793,539UniSTSGRCh37
Build 3686,780,819 - 6,780,949RGDNCBI36
Celera86,770,196 - 6,770,326RGD
Cytogenetic Map8p23UniSTS
HuRef86,572,945 - 6,573,075UniSTS
TNG Radiation Hybrid Map84242.0UniSTS
D8S1918  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3786,793,417 - 6,793,524UniSTSGRCh37
Build 3686,780,827 - 6,780,934RGDNCBI36
Celera86,770,204 - 6,770,311RGD
Cytogenetic Map8p23UniSTS
HuRef86,572,953 - 6,573,060UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
813 914 1082 1166 2274 1053 1474 2 358 1256 282 780 3769 3660 7 1997 359 928 1076 79 1

Sequence


Ensembl Acc Id: ENST00000297435   ⟹   ENSP00000297435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,935,820 - 6,938,306 (-)Ensembl
RefSeq Acc Id: NM_001925   ⟹   NP_001916
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3886,935,820 - 6,938,306 (-)NCBI
GRCh3786,793,345 - 6,795,786 (-)ENTREZGENE
Build 3686,780,755 - 6,783,196 (-)NCBI Archive
HuRef86,572,881 - 6,575,322 (-)ENTREZGENE
CHM1_186,882,467 - 6,884,985 (-)NCBI
T2T-CHM13v2.086,690,512 - 6,692,998 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001916   ⟸   NM_001925
- Peptide Label: preproprotein
- UniProtKB: Q6EZF8 (UniProtKB/Swiss-Prot),   P12838 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000297435   ⟸   ENST00000297435

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P12838-F1-model_v2 AlphaFold P12838 1-97 view protein structure

Promoters
RGD ID:7212553
Promoter ID:EPDNEW_H12023
Type:initiation region
Name:DEFA4_1
Description:defensin alpha 4
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
GRCh3886,938,306 - 6,938,366EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2763 AgrOrtholog
COSMIC DEFA4 COSMIC
Ensembl Genes ENSG00000164821 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000285318 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000297435 ENTREZGENE
  ENST00000297435.3 UniProtKB/Swiss-Prot
  ENST00000642522.2 UniProtKB/Swiss-Prot
GTEx ENSG00000164821 GTEx
  ENSG00000285318 GTEx
HGNC ID HGNC:2763 ENTREZGENE
Human Proteome Map DEFA4 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:1669 UniProtKB/Swiss-Prot
NCBI Gene 1669 ENTREZGENE
OMIM 601157 OMIM
PANTHER NEUTROPHIL DEFENSIN 4 UniProtKB/Swiss-Prot
  PTHR11876 UniProtKB/Swiss-Prot
Pfam Defensin_1 UniProtKB/Swiss-Prot
  Defensin_propep UniProtKB/Swiss-Prot
PharmGKB DEFA4 RGD, PharmGKB
PIRSF Alpha-defensin UniProtKB/Swiss-Prot
PROSITE DEFENSIN UniProtKB/Swiss-Prot
SMART Defensin_propep UniProtKB/Swiss-Prot
  DEFSN UniProtKB/Swiss-Prot
UniProt DEF4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6EZF8 ENTREZGENE
UniProt Secondary Q6EZF8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 DEFA4  defensin alpha 4  DEFA4  defensin, alpha 4, corticostatin  Symbol and/or name change 5135510 APPROVED