DEFB130A (defensin beta 130A) - Rat Genome Database

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Gene: DEFB130A (defensin beta 130A) Homo sapiens
Analyze
No known orthologs.
Symbol: DEFB130A
Name: defensin beta 130A
RGD ID: 1350712
HGNC Page HGNC:18107
Description: Predicted to enable CCR6 chemokine receptor binding activity and chemoattractant activity. Predicted to be involved in cell chemotaxis and defense response to bacterium. Located in cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: beta-defensin 130; beta-defensin 130A; beta-defensin 30; DEFB-30; DEFB130; DEFB130L; DEFB30; defensin beta 130; defensin, beta 130; defensin, beta 30
RGD Orthologs
Alliance Orthologs
More Info homologs ...
Related Pseudogenes: DEFB109A   DEFB109C   DEFB109D   DEFB109E  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38812,310,962 - 12,318,316 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl812,310,962 - 12,318,316 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p14 Ensembl812,064,389 - 12,071,747 (-)EnsemblGRCh38hg38GRCh38
GRCh37812,168,471 - 12,175,825 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36812,212,843 - 12,220,196 (-)NCBINCBI36Build 36hg18NCBI36
Celera811,058,158 - 11,065,484 (-)NCBICelera
Cytogenetic Map8p23.1NCBI
HuRef810,858,831 - 10,866,184 (-)NCBIHuRef
CHM1_1812,369,391 - 12,376,744 (-)NCBICHM1_1
T2T-CHM13v2.087,662,435 - 7,669,789 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
CGP 52608  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References
Additional References at PubMed
PMID:11854508   PMID:16033865   PMID:21873635   PMID:25544563   PMID:25798074   PMID:28181499   PMID:36724073  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1(chr8:12182421-12610034)x1 copy number loss See cases [RCV000050279] Chr8:12182421..12610034 [GRCh38]
Chr8:12039930..12467543 [GRCh37]
Chr8:12077339..12511914 [NCBI36]
Chr8:8p23.1		 benign
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(chr8:8222339-12383643)x1 copy number loss See cases [RCV000050658] Chr8:8222339..12383643 [GRCh38]
Chr8:8079861..12241152 [GRCh37]
Chr8:8117271..12285523 [NCBI36]
Chr8:8p23.1		 pathogenic
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 8p23.1(chr8:7195664-12383643)x1 copy number loss See cases [RCV000053154] Chr8:7195664..12383643 [GRCh38]
Chr8:7053186..12241152 [GRCh37]
Chr8:7040596..12285523 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1 copy number loss See cases [RCV000053165] Chr8:7234837..12514815 [GRCh38]
Chr8:7092359..12372324 [GRCh37]
Chr8:7079769..12416695 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7411097-12610175)x1 copy number loss See cases [RCV000053166] Chr8:7411097..12610175 [GRCh38]
Chr8:7268619..12467684 [GRCh37]
Chr8:7256029..12512055 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7411297-12546553)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053168]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053168]|See cases [RCV000053168] Chr8:7411297..12546553 [GRCh38]
Chr8:7268819..12404062 [GRCh37]
Chr8:7256229..12448433 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:8222139-12383784)x3 copy number gain See cases [RCV000053482] Chr8:8222139..12383784 [GRCh38]
Chr8:8079661..12241293 [GRCh37]
Chr8:8117071..12285664 [NCBI36]
Chr8:8p23.1		 pathogenic|uncertain significance
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-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 8p23.3-22(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 8p23.3-12(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
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 8p23.1(chr8:11901356-12610034)x1 copy number loss See cases [RCV000133706] Chr8:11901356..12610034 [GRCh38]
Chr8:11758865..12467543 [GRCh37]
Chr8:11796274..12511914 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:8273108-12546553)x3 copy number gain See cases [RCV000134923] Chr8:8273108..12546553 [GRCh38]
Chr8:8130630..12404062 [GRCh37]
Chr8:8168040..12448433 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:8273108-12383643)x1 copy number loss See cases [RCV000135775] Chr8:8273108..12383643 [GRCh38]
Chr8:8130630..12241152 [GRCh37]
Chr8:8168040..12285523 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7311968-12546553)x3 copy number gain See cases [RCV000136522] Chr8:7311968..12546553 [GRCh38]
Chr8:7169490..12404062 [GRCh37]
Chr8:7156900..12448433 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7311968-12546553)x1 copy number loss See cases [RCV000136523] Chr8:7311968..12546553 [GRCh38]
Chr8:7169490..12404062 [GRCh37]
Chr8:7156900..12448433 [NCBI36]
Chr8:8p23.1		 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 8p23.3-21.2(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 8p23.1(chr8:12182421-12546553)x3 copy number gain See cases [RCV000137011] Chr8:12182421..12546553 [GRCh38]
Chr8:12039930..12404062 [GRCh37]
Chr8:12077339..12448433 [NCBI36]
Chr8:8p23.1		 uncertain significance
GRCh38/hg38 8p23.1(chr8:8253505-12610034)x1 copy number loss See cases [RCV000137505] Chr8:8253505..12610034 [GRCh38]
Chr8:8111027..12467543 [GRCh37]
Chr8:8148437..12511914 [NCBI36]
Chr8:8p23.1		 pathogenic|likely benign
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1		 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 8p23.3-23.1(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-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 8p23.3-12(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 8p23.1(chr8:12095338-12585258)x3 copy number gain See cases [RCV000138770] Chr8:12095338..12585258 [GRCh38]
Chr8:11952847..12442767 [GRCh37]
Chr8:11990256..12487138 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23		 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(chr8:11948252-12546557)x3 copy number gain See cases [RCV000143056] Chr8:11948252..12546557 [GRCh38]
Chr8:11805761..12404066 [GRCh37]
Chr8:11843170..12448437 [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 8p23.1(chr8:8273108-12610034)x1 copy number loss See cases [RCV000142710] Chr8:8273108..12610034 [GRCh38]
Chr8:8130630..12467543 [GRCh37]
Chr8:8168040..12511914 [NCBI36]
Chr8:8p23.1		 pathogenic
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-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 8p23.1(chr8:12182421-12610034)x1 copy number loss See cases [RCV000148201] Chr8:12182421..12610034 [GRCh38]
Chr8:12039930..12467543 [GRCh37]
Chr8:12077339..12511914 [NCBI36]
Chr8:8p23.1		 benign
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 8p23.1(chr8:8131816-12249050)x1 copy number loss Premature ovarian failure [RCV000225350] Chr8:8131816..12249050 [GRCh37]
Chr8:8p23.1		 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 8p23.3-23.1(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(chr8:158991-17536147)x4 copy number gain See cases [RCV000448695] Chr8:158991..17536147 [GRCh37]
Chr8:8p23.3-22		 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 8p23.3-22(chr8:158048-13309069)x1 copy number loss See cases [RCV000510201] Chr8:158048..13309069 [GRCh37]
Chr8:8p23.3-22		 likely pathogenic
GRCh37/hg19 8p23.1-22(chr8:11935023-18814062)x3 copy number gain See cases [RCV000510447] Chr8:11935023..18814062 [GRCh37]
Chr8:8p23.1-22		 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 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12		 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 8p23.3-22(chr8:158048-15423270)x3 copy number gain not provided [RCV000683040] Chr8:158048..15423270 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2		 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(chr8:168483-13147575)x1,2 copy number gain not provided [RCV000683037] Chr8:168483..13147575 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3 copy number gain not provided [RCV000683039] Chr8:158048..13974319 [GRCh37]
Chr8:8p23.3-22		 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 8p23.1(chr8:11928524-12534362)x3 copy number gain not provided [RCV000747401] Chr8:11928524..12534362 [GRCh37]
Chr8:8p23.1		 benign
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 8p23.3-22(chr8:158048-14214722)x1 copy number loss not provided [RCV000847768] Chr8:158048..14214722 [GRCh37]
Chr8:8p23.3-22		 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-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 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 8p23.1(chr8:8093066-12548732)x1 copy number loss not provided [RCV002472610] Chr8:8093066..12548732 [GRCh37]
Chr8:8p23.1		 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 8p23.2-11.21(chr8:2201405-41723095)x3 copy number gain not provided [RCV003484713] Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21		 pathogenic
GRCh37/hg19 8p23.1-22(chr8:8093169-14526969)x3 copy number gain not provided [RCV003484718] Chr8:8093169..14526969 [GRCh37]
Chr8:8p23.1-22		 pathogenic
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3 copy number gain not provided [RCV003484722] Chr8:11945856..37902453 [GRCh37]
Chr8:8p23.1-11.23		 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
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

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

hemolymphoid system renal system reproductive system
High
Medium
Low
Below cutoff 3 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000400079   ⟹   ENSP00000382951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl812,310,962 - 12,318,316 (-)Ensembl
RefSeq Acc Id: ENST00000437818   ⟹   ENSP00000392568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl812,064,389 - 12,071,747 (-)Ensembl
RefSeq Acc Id: NM_001037804   ⟹   NP_001032893
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38812,310,962 - 12,318,316 (-)NCBI
GRCh37812,168,471 - 12,175,825 (-)RGD
Build 36812,212,843 - 12,220,196 (-)NCBI Archive
Celera811,058,158 - 11,065,484 (-)RGD
HuRef810,858,831 - 10,866,184 (-)ENTREZGENE
CHM1_1812,369,391 - 12,376,744 (-)NCBI
T2T-CHM13v2.087,662,435 - 7,669,789 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001032893 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAY59758 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000382951
  ENSP00000382951.1
  ENSP00000392568.1
  ENSP00000495606.1
GenBank Protein P0DP74 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001032893   ⟸   NM_001037804
- Peptide Label: precursor
- UniProtKB: Q30KQ2 (UniProtKB/Swiss-Prot),   P0DP74 (UniProtKB/Swiss-Prot),   P0DP73 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000382951   ⟸   ENST00000400079
RefSeq Acc Id: ENSP00000392568   ⟸   ENST00000437818

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P0DP73-F1-model_v2 AlphaFold P0DP73 1-79 view protein structure
AF-P0DP74-F1-model_v2 AlphaFold P0DP74 1-79 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18107 AgrOrtholog
COSMIC DEFB130A COSMIC
Ensembl Genes ENSG00000232948 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000233050 Ensembl, UniProtKB/Swiss-Prot
  ENSG00000285249 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000400079 ENTREZGENE
  ENST00000400079.1 UniProtKB/Swiss-Prot
  ENST00000437818.1 UniProtKB/Swiss-Prot
  ENST00000646760.1 UniProtKB/Swiss-Prot
GTEx ENSG00000232948 GTEx
  ENSG00000233050 GTEx
  ENSG00000285249 GTEx
HGNC ID HGNC:18107 ENTREZGENE
Human Proteome Map DEFB130A Human Proteome Map
InterPro Defensin_beta-typ UniProtKB/Swiss-Prot
KEGG Report hsa:100133267 UniProtKB/Swiss-Prot
  hsa:245940 UniProtKB/Swiss-Prot
NCBI Gene 245940 ENTREZGENE
PANTHER BETA-DEFENSIN UniProtKB/Swiss-Prot
  BETA-DEFENSIN 130A-RELATED UniProtKB/Swiss-Prot
Pfam Defensin_beta UniProtKB/Swiss-Prot
PharmGKB PA38503 PharmGKB
Superfamily-SCOP Defensin-like UniProtKB/Swiss-Prot
UniProt D130A_HUMAN UniProtKB/Swiss-Prot
  D130B_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  P0DP74 ENTREZGENE
  Q30KQ2 ENTREZGENE
UniProt Secondary Q30KQ2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-04-25 DEFB130A  defensin beta 130A  DEFB130  defensin beta 130  Symbol and/or name change 5135510 APPROVED
2015-11-24 DEFB130  defensin beta 130    defensin, beta 130  Symbol and/or name change 5135510 APPROVED