ALOX15B (arachidonate 15-lipoxygenase type B) - Rat Genome Database

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Gene: ALOX15B (arachidonate 15-lipoxygenase type B) Homo sapiens
Analyze
Symbol: ALOX15B
Name: arachidonate 15-lipoxygenase type B
RGD ID: 731629
HGNC Page HGNC:434
Description: Enables metal ion binding activity and oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen. Involved in several processes, including cannabinoid biosynthetic process; positive regulation of macrophage derived foam cell differentiation; and unsaturated fatty acid metabolic process. Located in several cellular components, including adherens junction; cytosol; and focal adhesion.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 15-lipoxygenase 2; 15-LOX-2; 15-LOX-B; 15S-lipoxygenase; arachidonate 15-lipoxygenase 2; arachidonate 15-lipoxygenase B; arachidonate 15-lipoxygenase type II; arachidonate 15-lipoxygenase, second type; arachidonate 15-lipoxygenase, type B; arachidonate omega(6) lipoxygenase; linoleate 13-lipoxygenase 15-LOb; polyunsaturated fatty acid lipoxygenase ALOX15B
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
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
GRCh38178,039,059 - 8,049,134 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl178,039,034 - 8,049,134 (+)EnsemblGRCh38hg38GRCh38
GRCh37177,942,377 - 7,952,452 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,883,083 - 7,893,177 (+)NCBINCBI36Build 36hg18NCBI36
Build 34177,883,126 - 7,893,174NCBI
Celera177,969,928 - 7,980,051 (+)NCBICelera
Cytogenetic Map17p13.1NCBI
HuRef177,837,153 - 7,847,282 (+)NCBIHuRef
CHM1_1177,951,127 - 7,961,240 (+)NCBICHM1_1
T2T-CHM13v2.0177,944,477 - 7,954,568 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
adherens junction  (IDA,IEA)
anchoring junction  (IEA)
cytoplasm  (IEA)
cytoskeleton  (IDA,IEA)
cytosol  (IDA,IEA,TAS)
extracellular exosome  (HDA)
focal adhesion  (IDA,IEA)
membrane  (IDA,IEA)
nucleus  (IDA,IEA)
plasma membrane  (IDA,IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Mammalian arachidonate 15-lipoxygenases structure, function, and biological implications. Kuhn H, etal., Prostaglandins Other Lipid Mediat. 2002 Aug;68-69:263-90.
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:2318885   PMID:9177185   PMID:10542053   PMID:10625675   PMID:11350124   PMID:11839751   PMID:11956198   PMID:12477932   PMID:12659684   PMID:12704195   PMID:15247906   PMID:15342556  
PMID:15489334   PMID:15698583   PMID:15797645   PMID:15799828   PMID:16556493   PMID:16682954   PMID:17139268   PMID:17493578   PMID:18067895   PMID:18156936   PMID:18311922   PMID:19064572  
PMID:19423540   PMID:19645454   PMID:19661680   PMID:20406964   PMID:20428779   PMID:20438785   PMID:20668019   PMID:20677014   PMID:21316676   PMID:21873635   PMID:21900394   PMID:21951814  
PMID:22078795   PMID:22912809   PMID:22939629   PMID:22980500   PMID:23533145   PMID:24282679   PMID:24373925   PMID:24376652   PMID:24497644   PMID:24533104   PMID:24732589   PMID:24975552  
PMID:25231870   PMID:25895668   PMID:26918937   PMID:27145229   PMID:27435673   PMID:28514442   PMID:28809482   PMID:30138423   PMID:30197642   PMID:31288808   PMID:31420013   PMID:32296183  
PMID:33961781   PMID:35831314   PMID:37716021  


Genomics

Comparative Map Data
ALOX15B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38178,039,059 - 8,049,134 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl178,039,034 - 8,049,134 (+)EnsemblGRCh38hg38GRCh38
GRCh37177,942,377 - 7,952,452 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,883,083 - 7,893,177 (+)NCBINCBI36Build 36hg18NCBI36
Build 34177,883,126 - 7,893,174NCBI
Celera177,969,928 - 7,980,051 (+)NCBICelera
Cytogenetic Map17p13.1NCBI
HuRef177,837,153 - 7,847,282 (+)NCBIHuRef
CHM1_1177,951,127 - 7,961,240 (+)NCBICHM1_1
T2T-CHM13v2.0177,944,477 - 7,954,568 (+)NCBIT2T-CHM13v2.0
Alox8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391169,074,711 - 69,088,669 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1169,074,758 - 69,088,669 (-)EnsemblGRCm39 Ensembl
GRCm381169,183,885 - 69,197,843 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1169,183,932 - 69,197,843 (-)EnsemblGRCm38mm10GRCm38
MGSCv371168,997,387 - 69,011,341 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361169,000,080 - 69,014,034 (-)NCBIMGSCv36mm8
Celera1176,136,086 - 76,151,253 (-)NCBICelera
Cytogenetic Map11B3NCBI
cM Map1142.38NCBI
Alox15b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81054,391,331 - 54,400,648 (-)NCBIGRCr8
mRatBN7.21053,892,496 - 53,901,812 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1053,892,466 - 53,901,812 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1058,554,201 - 58,563,570 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01058,042,809 - 58,052,178 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01053,550,911 - 53,560,210 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01055,773,748 - 55,783,489 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1055,774,006 - 55,783,489 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01055,517,096 - 55,526,545 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41055,951,005 - 55,960,265 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11055,964,626 - 55,973,888 (-)NCBI
Celera1053,057,844 - 53,067,039 (-)NCBICelera
Cytogenetic Map10q24NCBI
Alox15b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554678,895,095 - 8,906,009 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554678,896,740 - 8,906,032 (-)NCBIChiLan1.0ChiLan1.0
LOC100971127
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21965,704,347 - 65,715,938 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11770,509,809 - 70,525,379 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01743,609,146 - 43,619,713 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11748,340,759 - 48,350,808 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1748,340,777 - 48,350,808 (-)Ensemblpanpan1.1panPan2
ALOX15B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1532,878,348 - 32,888,253 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl532,878,338 - 32,888,316 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha533,014,628 - 33,024,494 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0532,981,218 - 32,991,101 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl532,981,035 - 32,991,180 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1532,948,241 - 32,958,102 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0532,904,002 - 32,913,858 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0533,084,046 - 33,093,901 (+)NCBIUU_Cfam_GSD_1.0
Alox15b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560247,805,676 - 47,815,516 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365951,279,944 - 1,288,321 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365951,279,944 - 1,288,321 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ALOX15B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1253,271,583 - 53,281,123 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11253,259,867 - 53,281,127 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21255,734,620 - 55,757,204 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ALOX15B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1167,425,533 - 7,435,896 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl167,425,990 - 7,435,327 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605913,969,096 - 13,979,121 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in ALOX15B
41 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.1(chr17:6958978-8335684)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|See cases [RCV000052457] Chr17:6958978..8335684 [GRCh38]
Chr17:6862297..8239002 [GRCh37]
Chr17:6803021..8179727 [NCBI36]
Chr17:17p13.1
pathogenic
GRCh38/hg38 17p13.1(chr17:7750804-10112969)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052460]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052460]|See cases [RCV000052460] Chr17:7750804..10112969 [GRCh38]
Chr17:7654122..10016286 [GRCh37]
Chr17:7594847..9957011 [NCBI36]
Chr17:17p13.1
pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6307904-8842949)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|See cases [RCV000053407] Chr17:6307904..8842949 [GRCh38]
Chr17:6211224..8746266 [GRCh37]
Chr17:6151948..8686991 [NCBI36]
Chr17:17p13.2-13.1
pathogenic
GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1 copy number loss See cases [RCV000053426] Chr17:7478195..8435524 [GRCh38]
Chr17:7381514..8338842 [GRCh37]
Chr17:7322238..8279567 [NCBI36]
Chr17:17p13.1
pathogenic
GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 copy number gain See cases [RCV000134851] Chr17:5732953..12095349 [GRCh38]
Chr17:5636273..11998666 [GRCh37]
Chr17:5576997..11939391 [NCBI36]
Chr17:17p13.2-12
pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3 copy number gain See cases [RCV000141063] Chr17:7967712..8490279 [GRCh38]
Chr17:7871030..8393597 [GRCh37]
Chr17:7811755..8334322 [NCBI36]
Chr17:17p13.1
uncertain significance
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12
pathogenic
NM_001141.3(ALOX15B):c.854G>A (p.Gly285Asp) single nucleotide variant Inborn genetic diseases [RCV003244160] Chr17:8045242 [GRCh38]
Chr17:7948560 [GRCh37]
Chr17:17p13.1
uncertain significance
NC_000017.11:g.(?_7669603)_(8382316_?)del deletion Diamond-Blackfan anemia [RCV000538057]|Dyskeratosis congenita [RCV001382188]|Li-Fraumeni syndrome [RCV003105948] Chr17:7669603..8382316 [GRCh38]
Chr17:7572921..8285634 [GRCh37]
Chr17:17p13.1
pathogenic
GRCh37/hg19 17p13.1(chr17:7241916-8692213)x1 copy number loss See cases [RCV000445992] Chr17:7241916..8692213 [GRCh37]
Chr17:17p13.1
pathogenic
GRCh37/hg19 17p13.1(chr17:7929776-9995862)x3 copy number gain See cases [RCV000447853] Chr17:7929776..9995862 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3 copy number gain See cases [RCV000511388] Chr17:7431013..9868179 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626431] Chr17:6934163..8217978 [GRCh37]
Chr17:17p13.1
drug response
NM_001141.3(ALOX15B):c.502G>A (p.Glu168Lys) single nucleotide variant Inborn genetic diseases [RCV003277655] Chr17:8042421 [GRCh38]
Chr17:7945739 [GRCh37]
Chr17:17p13.1
likely benign
NM_001141.3(ALOX15B):c.506A>G (p.Asp169Gly) single nucleotide variant Inborn genetic diseases [RCV003269043] Chr17:8042425 [GRCh38]
Chr17:7945743 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12
pathogenic
NM_001141.3(ALOX15B):c.1382G>A (p.Arg461Gln) single nucleotide variant not provided [RCV000714561] Chr17:8047001 [GRCh38]
Chr17:7950319 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NC_000017.10:g.(?_6589506)_(8151374_?)dup duplication Common variable immunodeficiency [RCV001338841]|Dyskeratosis congenita [RCV001031775] Chr17:6589506..8151374 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.987C>T (p.Leu329=) single nucleotide variant not provided [RCV000905954] Chr17:8045375 [GRCh38]
Chr17:7948693 [GRCh37]
Chr17:17p13.1
likely benign
NM_001141.3(ALOX15B):c.997-6C>T single nucleotide variant not provided [RCV000921689] Chr17:8045477 [GRCh38]
Chr17:7948795 [GRCh37]
Chr17:17p13.1
benign
NM_001141.3(ALOX15B):c.769C>T (p.Leu257Phe) single nucleotide variant not provided [RCV000961201] Chr17:8044921 [GRCh38]
Chr17:7948239 [GRCh37]
Chr17:17p13.1
likely benign
NM_001141.3(ALOX15B):c.1999C>T (p.Pro667Ser) single nucleotide variant Inborn genetic diseases [RCV003248891] Chr17:8048533 [GRCh38]
Chr17:7951851 [GRCh37]
Chr17:17p13.1
uncertain significance
NC_000017.11:g.(?_7669599)_(8382320_?)del deletion Li-Fraumeni syndrome [RCV000803922] Chr17:7669599..8382320 [GRCh38]
Chr17:7572917..8285638 [GRCh37]
Chr17:17p13.1
pathogenic
GRCh37/hg19 17p13.1(chr17:7676383-8350870)x3 copy number gain not provided [RCV000848522] Chr17:7676383..8350870 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh37/hg19 17p13.1(chr17:7886069-7966284)x3 copy number gain not provided [RCV000847313] Chr17:7886069..7966284 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.397G>A (p.Val133Met) single nucleotide variant Inborn genetic diseases [RCV003248587] Chr17:8039931 [GRCh38]
Chr17:7943249 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.488A>G (p.Asp163Gly) single nucleotide variant not provided [RCV000883302] Chr17:8042407 [GRCh38]
Chr17:7945725 [GRCh37]
Chr17:17p13.1
likely benign
NM_001141.3(ALOX15B):c.1904G>A (p.Arg635Gln) single nucleotide variant not provided [RCV000957547] Chr17:8048438 [GRCh38]
Chr17:7951756 [GRCh37]
Chr17:17p13.1
benign
GRCh37/hg19 17p13.1(chr17:7937691-8247776)x3 copy number gain not provided [RCV001006868] Chr17:7937691..8247776 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3 copy number gain not provided [RCV001259299] Chr17:6650649..8040151 [GRCh37]
Chr17:17p13.1
pathogenic
NC_000017.10:g.(?_7846709)_(8000124_?)dup duplication Cone-rod dystrophy 6 [RCV001338055] Chr17:7846709..8000124 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh37/hg19 17p13.1(chr17:7020054-8086290) copy number loss not specified [RCV002052585] Chr17:7020054..8086290 [GRCh37]
Chr17:17p13.1
pathogenic
GRCh37/hg19 17p13.1(chr17:7593552-8225803) copy number gain not specified [RCV002052587] Chr17:7593552..8225803 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh37/hg19 17p13.1(chr17:7241916-8692213) copy number loss not specified [RCV002052586] Chr17:7241916..8692213 [GRCh37]
Chr17:17p13.1
pathogenic
GRCh37/hg19 17p13.1(chr17:7929776-9995862) copy number gain not specified [RCV002052588] Chr17:7929776..9995862 [GRCh37]
Chr17:17p13.1
uncertain significance
NC_000017.10:g.(?_7571752)_(8135555_?)del deletion Li-Fraumeni syndrome [RCV003107874] Chr17:7571752..8135555 [GRCh37]
Chr17:17p13.1
pathogenic|uncertain significance
NC_000017.10:g.(?_7120455)_(8151423_?)del deletion Li-Fraumeni syndrome [RCV003111420] Chr17:7120455..8151423 [GRCh37]
Chr17:17p13.1
pathogenic
NC_000017.10:g.(?_7571752)_(8285628_?)del deletion Li-Fraumeni syndrome [RCV003111422] Chr17:7571752..8285628 [GRCh37]
Chr17:17p13.1
pathogenic
NC_000017.10:g.(?_7123304)_(8193254_?)del deletion Very long chain acyl-CoA dehydrogenase deficiency [RCV003119081] Chr17:7123304..8193254 [GRCh37]
Chr17:17p13.1
pathogenic
NC_000017.10:g.(?_7906366)_(8027402_?)dup duplication Cone-rod dystrophy 6 [RCV003122140] Chr17:7906366..8027402 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.853G>A (p.Gly285Ser) single nucleotide variant Inborn genetic diseases [RCV003276541] Chr17:8045241 [GRCh38]
Chr17:7948559 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh37/hg19 17p13.1(chr17:7381537-8068400)x3 copy number gain not provided [RCV002474996] Chr17:7381537..8068400 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.423G>C (p.Glu141Asp) single nucleotide variant Inborn genetic diseases [RCV002682373] Chr17:8039957 [GRCh38]
Chr17:7943275 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.1025C>T (p.Pro342Leu) single nucleotide variant Inborn genetic diseases [RCV002778831] Chr17:8045511 [GRCh38]
Chr17:7948829 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.1661C>T (p.Ala554Val) single nucleotide variant Inborn genetic diseases [RCV002969499] Chr17:8047645 [GRCh38]
Chr17:7950963 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.682G>A (p.Ala228Thr) single nucleotide variant Inborn genetic diseases [RCV002884631] Chr17:8044834 [GRCh38]
Chr17:7948152 [GRCh37]
Chr17:17p13.1
likely benign
NM_001141.3(ALOX15B):c.1631T>C (p.Met544Thr) single nucleotide variant Inborn genetic diseases [RCV002849297] Chr17:8047615 [GRCh38]
Chr17:7950933 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.97A>T (p.Ser33Cys) single nucleotide variant Inborn genetic diseases [RCV002799495] Chr17:8039252 [GRCh38]
Chr17:7942570 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.1574G>A (p.Ser525Asn) single nucleotide variant Inborn genetic diseases [RCV002956783] Chr17:8047374 [GRCh38]
Chr17:7950692 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.847G>C (p.Glu283Gln) single nucleotide variant Inborn genetic diseases [RCV002763321] Chr17:8044999 [GRCh38]
Chr17:7948317 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.1081C>T (p.Arg361Cys) single nucleotide variant Inborn genetic diseases [RCV002984280] Chr17:8045567 [GRCh38]
Chr17:7948885 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.974C>T (p.Pro325Leu) single nucleotide variant Inborn genetic diseases [RCV002698582] Chr17:8045362 [GRCh38]
Chr17:7948680 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.109C>T (p.Pro37Ser) single nucleotide variant Inborn genetic diseases [RCV002930426] Chr17:8039264 [GRCh38]
Chr17:7942582 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.251C>G (p.Pro84Arg) single nucleotide variant Inborn genetic diseases [RCV002983397] Chr17:8039489 [GRCh38]
Chr17:7942807 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.1031T>G (p.Phe344Cys) single nucleotide variant Inborn genetic diseases [RCV002940759] Chr17:8045517 [GRCh38]
Chr17:7948835 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.622A>G (p.Arg208Gly) single nucleotide variant Inborn genetic diseases [RCV002836136] Chr17:8042830 [GRCh38]
Chr17:7946148 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.823G>A (p.Gly275Arg) single nucleotide variant Inborn genetic diseases [RCV002940355] Chr17:8044975 [GRCh38]
Chr17:7948293 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.1871C>T (p.Pro624Leu) single nucleotide variant Inborn genetic diseases [RCV003173170] Chr17:8048405 [GRCh38]
Chr17:7951723 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.1952T>A (p.Ile651Asn) single nucleotide variant Inborn genetic diseases [RCV003180766] Chr17:8048486 [GRCh38]
Chr17:7951804 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.238G>C (p.Gly80Arg) single nucleotide variant Inborn genetic diseases [RCV003181089] Chr17:8039476 [GRCh38]
Chr17:7942794 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.313C>A (p.Pro105Thr) single nucleotide variant Inborn genetic diseases [RCV003188657] Chr17:8039551 [GRCh38]
Chr17:7942869 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.1961G>A (p.Arg654Gln) single nucleotide variant Inborn genetic diseases [RCV003192917] Chr17:8048495 [GRCh38]
Chr17:7951813 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.212A>T (p.Lys71Met) single nucleotide variant Inborn genetic diseases [RCV003185577] Chr17:8039450 [GRCh38]
Chr17:7942768 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.1355C>G (p.Ser452Cys) single nucleotide variant Inborn genetic diseases [RCV003202014] Chr17:8046974 [GRCh38]
Chr17:7950292 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.783C>A (p.Phe261Leu) single nucleotide variant Inborn genetic diseases [RCV003283454] Chr17:8044935 [GRCh38]
Chr17:7948253 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.1286G>T (p.Arg429Met) single nucleotide variant Inborn genetic diseases [RCV003285549] Chr17:8046753 [GRCh38]
Chr17:7950071 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12
pathogenic
NM_001141.3(ALOX15B):c.292C>T (p.Arg98Trp) single nucleotide variant Inborn genetic diseases [RCV003345408] Chr17:8039530 [GRCh38]
Chr17:7942848 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.312C>A (p.Phe104Leu) single nucleotide variant Inborn genetic diseases [RCV003366757] Chr17:8039550 [GRCh38]
Chr17:7942868 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.1093T>A (p.Phe365Ile) single nucleotide variant Inborn genetic diseases [RCV003348071] Chr17:8045579 [GRCh38]
Chr17:7948897 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001141.3(ALOX15B):c.1352A>G (p.Tyr451Cys) single nucleotide variant Inborn genetic diseases [RCV003367484] Chr17:8046971 [GRCh38]
Chr17:7950289 [GRCh37]
Chr17:17p13.1
uncertain significance
Single allele duplication not provided [RCV003448671] Chr17:7709286..8297901 [GRCh37]
Chr17:17p13.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1408
Count of miRNA genes:563
Interacting mature miRNAs:626
Transcripts:ENST00000380173, ENST00000380183, ENST00000571240, ENST00000572022, ENST00000573359
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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
D17S561  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,951,334 - 7,951,491UniSTSGRCh37
Build 36177,892,059 - 7,892,216RGDNCBI36
Celera177,978,933 - 7,979,090RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,846,164 - 7,846,321UniSTS
SHGC-146014  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,944,050 - 7,944,326UniSTSGRCh37
Build 36177,884,775 - 7,885,051RGDNCBI36
Celera177,971,628 - 7,971,920RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,838,853 - 7,839,151UniSTS
TNG Radiation Hybrid Map174346.0UniSTS
PMC21017P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,952,015 - 7,952,366UniSTSGRCh37
Build 36177,892,740 - 7,893,091RGDNCBI36
Celera177,979,614 - 7,979,965RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,846,845 - 7,847,196UniSTS


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
High 1 3
Medium 186 311 154 50 400 14 1453 16 245 30 391 547 36 163 878
Low 1478 1331 1073 226 887 105 1605 861 1372 155 772 808 124 705 924 1
Below cutoff 685 1252 431 292 439 287 1221 1256 1943 152 223 114 9 332 953 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001039130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001039131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC129492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF149095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF468051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF468052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF468053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF468054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ305028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ305029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ305030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ305031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP327830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA307212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA405703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U78294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000380173   ⟹   ENSP00000369520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl178,039,040 - 8,049,110 (+)Ensembl
RefSeq Acc Id: ENST00000380183   ⟹   ENSP00000369530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl178,039,059 - 8,049,134 (+)Ensembl
RefSeq Acc Id: ENST00000571240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl178,039,101 - 8,049,134 (+)Ensembl
RefSeq Acc Id: ENST00000572022   ⟹   ENSP00000458749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl178,039,034 - 8,048,844 (+)Ensembl
RefSeq Acc Id: ENST00000573359   ⟹   ENSP00000460332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl178,039,156 - 8,048,565 (+)Ensembl
RefSeq Acc Id: NM_001039130   ⟹   NP_001034219
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38178,039,059 - 8,049,134 (+)NCBI
GRCh37177,942,343 - 7,952,452 (+)NCBI
Build 36177,883,083 - 7,893,177 (+)NCBI Archive
HuRef177,837,153 - 7,847,282 (+)ENTREZGENE
CHM1_1177,951,127 - 7,961,240 (+)NCBI
T2T-CHM13v2.0177,944,477 - 7,954,568 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001039131   ⟹   NP_001034220
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38178,039,059 - 8,049,134 (+)NCBI
GRCh37177,942,343 - 7,952,452 (+)NCBI
Build 36177,883,083 - 7,893,177 (+)NCBI Archive
HuRef177,837,153 - 7,847,282 (+)ENTREZGENE
CHM1_1177,951,127 - 7,961,240 (+)NCBI
T2T-CHM13v2.0177,944,477 - 7,954,568 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001141   ⟹   NP_001132
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38178,039,059 - 8,049,134 (+)NCBI
GRCh37177,942,343 - 7,952,452 (+)NCBI
Build 36177,883,083 - 7,893,177 (+)NCBI Archive
HuRef177,837,153 - 7,847,282 (+)ENTREZGENE
CHM1_1177,951,127 - 7,961,240 (+)NCBI
T2T-CHM13v2.0177,944,477 - 7,954,568 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001132   ⟸   NM_001141
- Peptide Label: isoform d
- UniProtKB: Q8TEV6 (UniProtKB/Swiss-Prot),   Q8TEV5 (UniProtKB/Swiss-Prot),   Q8TEV4 (UniProtKB/Swiss-Prot),   Q8TEV3 (UniProtKB/Swiss-Prot),   Q8IYQ2 (UniProtKB/Swiss-Prot),   D3DTR2 (UniProtKB/Swiss-Prot),   Q9UKM4 (UniProtKB/Swiss-Prot),   O15296 (UniProtKB/Swiss-Prot),   A8K9R4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001034219   ⟸   NM_001039130
- Peptide Label: isoform a
- UniProtKB: A8K9R4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001034220   ⟸   NM_001039131
- Peptide Label: isoform b
- UniProtKB: I3L1D5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000458749   ⟸   ENST00000572022
RefSeq Acc Id: ENSP00000460332   ⟸   ENST00000573359
RefSeq Acc Id: ENSP00000369520   ⟸   ENST00000380173
RefSeq Acc Id: ENSP00000369530   ⟸   ENST00000380183
Protein Domains
Lipoxygenase   PLAT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15296-F1-model_v2 AlphaFold O15296 1-676 view protein structure

Promoters
RGD ID:7233883
Promoter ID:EPDNEW_H22686
Type:initiation region
Name:ALOX15B_1
Description:arachidonate 15-lipoxygenase, type B
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
GRCh38178,039,059 - 8,039,119EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:434 AgrOrtholog
COSMIC ALOX15B COSMIC
Ensembl Genes ENSG00000179593 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000380173 ENTREZGENE
  ENST00000380173.6 UniProtKB/Swiss-Prot
  ENST00000380183 ENTREZGENE
  ENST00000380183.9 UniProtKB/Swiss-Prot
  ENST00000572022.5 UniProtKB/TrEMBL
  ENST00000573359 ENTREZGENE
  ENST00000573359.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.10.450.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLAT/LH2 domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000179593 GTEx
HGNC ID HGNC:434 ENTREZGENE
Human Proteome Map ALOX15B Human Proteome Map
InterPro LipOase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LipOase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LipOase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LipOase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LipOase_Fe_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LipOase_mml UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLAT/LH2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLAT/LH2_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLAT_LOX_verte UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:247 UniProtKB/Swiss-Prot
NCBI Gene 247 ENTREZGENE
OMIM 603697 OMIM
PANTHER POLYUNSATURATED FATTY ACID LIPOXYGENASE ALOX15B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11771 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Lipoxygenase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24725 PharmGKB
PRINTS LIPOXYGENASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAMLPOXGNASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE LIPOXYGENASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LIPOXYGENASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LIPOXYGENASE_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48484 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49723 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K9R4 ENTREZGENE, UniProtKB/TrEMBL
  D3DTR2 ENTREZGENE
  I3L1D5 ENTREZGENE, UniProtKB/TrEMBL
  LX15B_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8IYQ2 ENTREZGENE
  Q8TEV3 ENTREZGENE
  Q8TEV4 ENTREZGENE
  Q8TEV5 ENTREZGENE
  Q8TEV6 ENTREZGENE
  Q9UKM4 ENTREZGENE
UniProt Secondary D3DTR2 UniProtKB/Swiss-Prot
  Q8IYQ2 UniProtKB/Swiss-Prot
  Q8TEV3 UniProtKB/Swiss-Prot
  Q8TEV4 UniProtKB/Swiss-Prot
  Q8TEV5 UniProtKB/Swiss-Prot
  Q8TEV6 UniProtKB/Swiss-Prot
  Q9UKM4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-22 ALOX15B  arachidonate 15-lipoxygenase type B  ALOX15B  arachidonate 15-lipoxygenase, type B  Symbol and/or name change 5135510 APPROVED