BLVRB (biliverdin reductase B) - Rat Genome Database

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Gene: BLVRB (biliverdin reductase B) Homo sapiens
Analyze
Symbol: BLVRB
Name: biliverdin reductase B
RGD ID: 1314490
HGNC Page HGNC:1063
Description: Enables biliverdin reductase (NAD(P)+) activity; peptidyl-cysteine S-nitrosylase activity; and riboflavin reductase (NADPH) activity. Involved in heme catabolic process; megakaryocyte differentiation; and negative regulation of insulin receptor signaling pathway. Located in cytosol; nucleoplasm; and plasma membrane. Is active in cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: biliverdin reductase B (flavin reductase (NADPH)); biliverdin-IX beta-reductase; BVR-B; BVRB; epididymis secretory protein Li 10; flavin reductase; flavin reductase (NADPH); FLR; FR; GHBP; green heme-binding protein; HEL-S-10; MGC117413; NADPH-dependent diaphorase; NADPH-flavin reductase; SDR43U1; short chain dehydrogenase/reductase family 43U, member 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: BLVRBP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381940,447,768 - 40,465,745 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1940,447,765 - 40,465,764 (-)EnsemblGRCh38hg38GRCh38
GRCh371940,953,675 - 40,971,652 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361945,645,541 - 45,663,516 (-)NCBINCBI36Build 36hg18NCBI36
Build 341945,645,540 - 45,663,517NCBI
Celera1937,753,251 - 37,771,296 (-)NCBICelera
Cytogenetic Map19q13.2NCBI
HuRef1937,389,108 - 37,406,845 (-)NCBIHuRef
CHM1_11940,953,363 - 40,971,359 (-)NCBICHM1_1
T2T-CHM13v2.01943,268,426 - 43,286,397 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-butoxyethanol  (ISO)
2-hydroxypropanoic acid  (EXP)
2-tert-butylhydroquinone  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxynon-2-enal  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
acrylamide  (ISO)
afimoxifene  (EXP)
all-trans-retinoic acid  (EXP)
andrographolide  (ISO)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
asperentin  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
bortezomib  (EXP)
buspirone  (ISO)
buta-1,3-diene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
calycosin  (EXP)
cannabidiol  (EXP)
cefaloridine  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
ciglitazone  (EXP)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diethyl maleate  (ISO)
diquat  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
finasteride  (ISO)
flutamide  (ISO)
formaldehyde  (EXP)
furan  (ISO)
glafenine  (ISO)
hypochlorous acid  (ISO)
inulin  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
lead diacetate  (ISO)
lead(0)  (EXP)
leflunomide  (ISO)
Licochalcone B  (EXP)
lidocaine  (ISO)
lipopolysaccharide  (ISO)
menadione  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
microcystin-LR  (ISO)
mycotoxin  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (EXP)
N-nitrosomorpholine  (ISO)
nefazodone  (ISO)
neoechinulin A  (ISO)
nimesulide  (ISO)
Nonylphenol  (ISO)
ochratoxin A  (EXP)
okadaic acid  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
pentachlorophenol  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (ISO)
phenethyl isothiocyanate  (ISO)
phenobarbital  (ISO)
phosgene  (ISO)
pirinixic acid  (ISO)
quercetin  (ISO)
rac-lactic acid  (EXP)
rotenone  (EXP,ISO)
SB 431542  (EXP)
selenium atom  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
sodium dodecyl sulfate  (EXP)
sterigmatocystin  (ISO)
succimer  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
TMC-120A  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

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. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1286669   PMID:7656592   PMID:7929092   PMID:8117274   PMID:8280170   PMID:8313871   PMID:8687377   PMID:8799475   PMID:10858451   PMID:11224564   PMID:12477932   PMID:12626517  
PMID:12909459   PMID:15489334   PMID:18029348   PMID:18241201   PMID:19027726   PMID:19056867   PMID:21873635   PMID:21988832   PMID:22939629   PMID:23376485   PMID:25726384   PMID:26186194  
PMID:26344197   PMID:26708147   PMID:27207795   PMID:28007894   PMID:28514442   PMID:29487133   PMID:29500232   PMID:29791485   PMID:30463901   PMID:31436131   PMID:31527615   PMID:31980649  
PMID:32246827   PMID:32296183   PMID:32513696   PMID:32687490   PMID:33111431   PMID:33961781   PMID:34732716   PMID:35256949   PMID:35271311   PMID:35687106   PMID:35831314   PMID:35944360  
PMID:36215168   PMID:36244648   PMID:36736316   PMID:37371462   PMID:37827155   PMID:38056462   PMID:38113892  


Genomics

Comparative Map Data
BLVRB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381940,447,768 - 40,465,745 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1940,447,765 - 40,465,764 (-)EnsemblGRCh38hg38GRCh38
GRCh371940,953,675 - 40,971,652 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361945,645,541 - 45,663,516 (-)NCBINCBI36Build 36hg18NCBI36
Build 341945,645,540 - 45,663,517NCBI
Celera1937,753,251 - 37,771,296 (-)NCBICelera
Cytogenetic Map19q13.2NCBI
HuRef1937,389,108 - 37,406,845 (-)NCBIHuRef
CHM1_11940,953,363 - 40,971,359 (-)NCBICHM1_1
T2T-CHM13v2.01943,268,426 - 43,286,397 (-)NCBIT2T-CHM13v2.0
Blvrb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39727,147,403 - 27,165,406 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl727,147,403 - 27,165,569 (+)EnsemblGRCm39 Ensembl
GRCm38727,447,978 - 27,465,981 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl727,447,978 - 27,466,144 (+)EnsemblGRCm38mm10GRCm38
MGSCv37728,232,997 - 28,251,000 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36727,156,738 - 27,174,741 (+)NCBIMGSCv36mm8
Celera722,030,292 - 22,048,354 (+)NCBICelera
Cytogenetic Map7A3NCBI
cM Map715.9NCBI
Blvrb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8191,866,258 - 91,883,921 (+)NCBIGRCr8
mRatBN7.2182,738,646 - 82,756,312 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl182,738,695 - 82,770,375 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx188,141,751 - 88,159,098 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0196,628,789 - 96,646,213 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0189,897,608 - 89,914,955 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0184,256,063 - 84,273,726 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl184,256,159 - 84,274,075 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0185,468,772 - 85,490,833 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4182,528,943 - 82,546,606NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera177,153,671 - 77,171,142 (+)NCBICelera
Cytogenetic Map1q21NCBI
Blvrb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955578813,480 - 838,151 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955578813,834 - 834,675 (+)NCBIChiLan1.0ChiLan1.0
BLVRB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22046,710,915 - 46,728,689 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11948,581,558 - 48,601,334 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01937,496,344 - 37,516,127 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11946,007,321 - 46,025,120 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1946,007,321 - 46,025,120 (-)Ensemblpanpan1.1panPan2
BLVRB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11113,244,484 - 113,258,170 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1113,244,503 - 113,258,073 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1112,646,444 - 112,660,113 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01113,842,860 - 113,856,535 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1113,842,878 - 113,856,438 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11113,402,155 - 113,415,836 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01113,034,647 - 113,048,316 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01114,028,608 - 114,042,276 (+)NCBIUU_Cfam_GSD_1.0
Blvrb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934914,380,932 - 14,390,059 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366612,808,950 - 2,818,178 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366612,808,998 - 2,818,123 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BLVRB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl648,715,199 - 48,728,389 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1648,715,540 - 48,728,433 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2644,463,504 - 44,476,949 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BLVRB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1634,902,632 - 34,925,105 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl634,902,598 - 34,925,100 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607313,019,457 - 13,042,205 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Blvrb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624925432,137 - 452,903 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624925432,137 - 452,946 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BLVRB
18 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3 copy number gain See cases [RCV000050636] Chr19:37319377..42738688 [GRCh38]
Chr19:37810279..43242840 [GRCh37]
Chr19:42502119..47934680 [NCBI36]
Chr19:19q13.12-13.2		 pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3 copy number gain See cases [RCV000239839] Chr19:37582250..41630908 [GRCh37]
Chr19:19q13.12-13.2		 pathogenic
GRCh37/hg19 19q13.2(chr19:40636400-41060616)x3 copy number gain not provided [RCV000752683] Chr19:40636400..41060616 [GRCh37]
Chr19:19q13.2		 benign
GRCh37/hg19 19q13.2(chr19:40968842-41023511)x3 copy number gain not provided [RCV000752684] Chr19:40968842..41023511 [GRCh37]
Chr19:19q13.2		 benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_000713.3(BLVRB):c.28G>C (p.Gly10Arg) single nucleotide variant Inborn genetic diseases [RCV003271754] Chr19:40465661 [GRCh38]
Chr19:40971568 [GRCh37]
Chr19:19q13.2		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_000713.3(BLVRB):c.252G>C (p.Thr84=) single nucleotide variant not provided [RCV000966072] Chr19:40458237 [GRCh38]
Chr19:40964144 [GRCh37]
Chr19:19q13.2		 benign
NM_000713.3(BLVRB):c.147C>T (p.His49=) single nucleotide variant not provided [RCV000882430] Chr19:40458478 [GRCh38]
Chr19:40964385 [GRCh37]
Chr19:19q13.2		 likely benign
NM_000713.3(BLVRB):c.418C>G (p.Arg140Gly) single nucleotide variant not provided [RCV000881266] Chr19:40451409 [GRCh38]
Chr19:40957316 [GRCh37]
Chr19:19q13.2		 likely benign
NM_000713.3(BLVRB):c.137G>A (p.Arg46Gln) single nucleotide variant not provided [RCV000881138] Chr19:40458488 [GRCh38]
Chr19:40964395 [GRCh37]
Chr19:19q13.2		 likely benign
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33		 pathogenic
NC_000019.9:g.(?_39904727)_(42931301_?)dup duplication Diamond-Blackfan anemia [RCV003122291]|MEGF8-related Carpenter syndrome [RCV003105286]|Maple syrup urine disease [RCV003105287]|TWIST1-related craniosynostosis [RCV003105285] Chr19:39904727..42931301 [GRCh37]
Chr19:19q13.2		 uncertain significance
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3 copy number gain Specific learning disability [RCV001801194] Chr19:19546923..41313229 [GRCh37]
Chr19:19p13.11-q13.2		 pathogenic
NC_000019.9:g.(?_40882496)_(41135455_?)dup duplication not provided [RCV003116579] Chr19:40882496..41135455 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_000713.3(BLVRB):c.341T>C (p.Leu114Pro) single nucleotide variant Inborn genetic diseases [RCV002990200] Chr19:40451486 [GRCh38]
Chr19:40957393 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_000713.3(BLVRB):c.526A>G (p.Ile176Val) single nucleotide variant Inborn genetic diseases [RCV002991945] Chr19:40447984 [GRCh38]
Chr19:40953891 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_000713.3(BLVRB):c.65A>G (p.Gln22Arg) single nucleotide variant Inborn genetic diseases [RCV003001463] Chr19:40465624 [GRCh38]
Chr19:40971531 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_000713.3(BLVRB):c.401G>A (p.Arg134Gln) single nucleotide variant Inborn genetic diseases [RCV002978674] Chr19:40451426 [GRCh38]
Chr19:40957333 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_000713.3(BLVRB):c.233G>A (p.Arg78His) single nucleotide variant Inborn genetic diseases [RCV002875263] Chr19:40458392 [GRCh38]
Chr19:40964299 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_000713.3(BLVRB):c.364C>T (p.Pro122Ser) single nucleotide variant Inborn genetic diseases [RCV002825998] Chr19:40451463 [GRCh38]
Chr19:40957370 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_000713.3(BLVRB):c.274C>T (p.Arg92Trp) single nucleotide variant Inborn genetic diseases [RCV002874998] Chr19:40458215 [GRCh38]
Chr19:40964122 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_000713.3(BLVRB):c.268G>A (p.Gly90Ser) single nucleotide variant Inborn genetic diseases [RCV002920191] Chr19:40458221 [GRCh38]
Chr19:40964128 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_000713.3(BLVRB):c.559C>T (p.Arg187Cys) single nucleotide variant Inborn genetic diseases [RCV002649146] Chr19:40447951 [GRCh38]
Chr19:40953858 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_000713.3(BLVRB):c.178G>A (p.Asp60Asn) single nucleotide variant Inborn genetic diseases [RCV002769387] Chr19:40458447 [GRCh38]
Chr19:40964354 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_000713.3(BLVRB):c.522G>T (p.Arg174Ser) single nucleotide variant Inborn genetic diseases [RCV003191170] Chr19:40447988 [GRCh38]
Chr19:40953895 [GRCh37]
Chr19:19q13.2		 uncertain significance
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3 copy number gain not specified [RCV003986115] Chr19:28271146..41508851 [GRCh37]
Chr19:19q11-13.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1234
Count of miRNA genes:620
Interacting mature miRNAs:696
Transcripts:ENST00000263368, ENST00000595483, ENST00000597870, ENST00000601346
Prediction methods: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
A009D36  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371940,970,345 - 40,970,471UniSTSGRCh37
Build 361945,662,185 - 45,662,311RGDNCBI36
Celera1937,769,916 - 37,770,042RGD
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
HuRef1937,405,465 - 37,405,591UniSTS
GeneMap99-GB4 RH Map19235.07UniSTS
NCBI RH Map19420.3UniSTS
RH16416  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371940,970,325 - 40,970,491UniSTSGRCh37
Build 361945,662,165 - 45,662,331RGDNCBI36
Celera1937,769,896 - 37,770,062RGD
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
HuRef1937,405,445 - 37,405,611UniSTS
GeneMap99-GB4 RH Map19234.96UniSTS
NCBI RH Map19420.3UniSTS
RH46045  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371940,967,982 - 40,968,146UniSTSGRCh37
Build 361945,659,822 - 45,659,986RGDNCBI36
Celera1937,767,554 - 37,767,718RGD
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
HuRef1937,403,249 - 37,403,413UniSTS
GeneMap99-GB4 RH Map19237.18UniSTS
NCBI RH Map19420.3UniSTS
SHGC-33106  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371940,953,719 - 40,953,849UniSTSGRCh37
Build 361945,645,559 - 45,645,689RGDNCBI36
Celera1937,753,279 - 37,753,409RGD
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
HuRef1937,389,136 - 37,389,266UniSTS
Stanford-G3 RH Map191778.0UniSTS
GeneMap99-GB4 RH Map19237.06UniSTS
Whitehead-RH Map19314.4UniSTS
NCBI RH Map19420.3UniSTS
GeneMap99-G3 RH Map191789.0UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2 2 5 2 4
Medium 2435 2934 1714 621 1851 462 4356 2143 3387 415 1269 1575 172 1204 2788 6 2
Low 4 57 10 1 93 1 1 54 347 4 187 33 3 1
Below cutoff 1 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000263368   ⟹   ENSP00000263368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,447,768 - 40,465,745 (-)Ensembl
RefSeq Acc Id: ENST00000595483   ⟹   ENSP00000471720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,447,789 - 40,465,745 (-)Ensembl
RefSeq Acc Id: ENST00000597870   ⟹   ENSP00000470619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,447,821 - 40,465,735 (-)Ensembl
RefSeq Acc Id: ENST00000601346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,447,803 - 40,458,457 (-)Ensembl
RefSeq Acc Id: ENST00000643519   ⟹   ENSP00000494515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,447,765 - 40,465,764 (-)Ensembl
RefSeq Acc Id: ENST00000643596   ⟹   ENSP00000496337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,447,795 - 40,465,759 (-)Ensembl
RefSeq Acc Id: NM_000713   ⟹   NP_000704
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381940,447,768 - 40,465,745 (-)NCBI
GRCh371940,953,691 - 40,971,725 (-)ENTREZGENE
Build 361945,645,541 - 45,663,516 (-)NCBI Archive
HuRef1937,389,108 - 37,406,845 (-)ENTREZGENE
CHM1_11940,953,363 - 40,971,359 (-)NCBI
T2T-CHM13v2.01943,268,426 - 43,286,397 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_000704   ⟸   NM_000713
- UniProtKB: P53005 (UniProtKB/Swiss-Prot),   P32078 (UniProtKB/Swiss-Prot),   B2R5C6 (UniProtKB/Swiss-Prot),   A6NKD8 (UniProtKB/Swiss-Prot),   Q32LZ2 (UniProtKB/Swiss-Prot),   P30043 (UniProtKB/Swiss-Prot),   V9HWI1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000471720   ⟸   ENST00000595483
RefSeq Acc Id: ENSP00000470619   ⟸   ENST00000597870
RefSeq Acc Id: ENSP00000494515   ⟸   ENST00000643519
RefSeq Acc Id: ENSP00000496337   ⟸   ENST00000643596
RefSeq Acc Id: ENSP00000263368   ⟸   ENST00000263368
Protein Domains
NAD(P)-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P30043-F1-model_v2 AlphaFold P30043 1-206 view protein structure

Promoters
RGD ID:7239975
Promoter ID:EPDNEW_H25732
Type:initiation region
Name:BLVRB_1
Description:biliverdin reductase 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
GRCh381940,465,745 - 40,465,805EPDNEW
RGD ID:6795188
Promoter ID:HG_KWN:29971
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000713,   UC002ONX.1,   UC002ONY.1,   UC010EGW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361945,662,551 - 45,664,007 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1063 AgrOrtholog
COSMIC BLVRB COSMIC
Ensembl Genes ENSG00000090013 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000263368 ENTREZGENE
  ENST00000263368.9 UniProtKB/Swiss-Prot
  ENST00000595483.5 UniProtKB/TrEMBL
  ENST00000597870.1 UniProtKB/TrEMBL
  ENST00000643519.1 UniProtKB/TrEMBL
  ENST00000643596.1 UniProtKB/TrEMBL
Gene3D-CATH NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000090013 GTEx
HGNC ID HGNC:1063 ENTREZGENE
Human Proteome Map BLVRB Human Proteome Map
InterPro NAD(P)-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:645 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 645 ENTREZGENE
OMIM 600941 OMIM
PANTHER BILIVERDIN REDUCTASE B UniProtKB/TrEMBL
  FLAVIN REDUCTASE (NADPH) UniProtKB/Swiss-Prot
  FLAVIN REDUCTASE (NADPH) UniProtKB/Swiss-Prot
  FLAVIN REDUCTASE (NADPH) UniProtKB/TrEMBL
  FLAVIN REDUCTASE (NADPH) UniProtKB/TrEMBL
Pfam NAD_binding_10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25374 PharmGKB
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y7Y9_HUMAN UniProtKB/TrEMBL
  A0A2R8YEP4_HUMAN UniProtKB/TrEMBL
  A6NKD8 ENTREZGENE
  B2R5C6 ENTREZGENE
  BLVRB_HUMAN UniProtKB/Swiss-Prot
  M0QZL1_HUMAN UniProtKB/TrEMBL
  M0R192_HUMAN UniProtKB/TrEMBL
  P30043 ENTREZGENE
  P32078 ENTREZGENE
  P53005 ENTREZGENE
  Q32LZ2 ENTREZGENE
  V9HWI1 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A6NKD8 UniProtKB/Swiss-Prot
  B2R5C6 UniProtKB/Swiss-Prot
  P32078 UniProtKB/Swiss-Prot
  P53005 UniProtKB/Swiss-Prot
  Q32LZ2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-11-26 BLVRB  biliverdin reductase B  BLVRB  biliverdin reductase B (flavin reductase (NADPH))  Symbol and/or name change 5135510 APPROVED