BLTP2 (bridge-like lipid transfer protein family member 2) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: BLTP2 (bridge-like lipid transfer protein family member 2) Homo sapiens
Analyze
Symbol: BLTP2
Name: bridge-like lipid transfer protein family member 2
RGD ID: 1605423
HGNC Page HGNC:28960
Description: Predicted to enable phosphatidylinositol binding activity. Predicted to be located in endoplasmic reticulum-plasma membrane contact site.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: antigen MLAA-22; BCOX; BCOX1; breast cancer overexpressed gene 1; breast cancer-overexpressed gene 1 protein; cancer/testis antigen 101; CT101; DKFZp686M0843; FMP27; Hob; hypothetical protein LOC9703; KIAA0100; KIAA0100; MGC111488; MGC134981; U937-associated antigen; UPF0378 protein KIAA0100
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh381728,614,440 - 28,645,159 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1728,614,446 - 28,645,454 (-)EnsemblGRCh38hg38GRCh38
GRCh371726,941,458 - 26,972,177 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361723,965,585 - 23,996,300 (-)NCBINCBI36Build 36hg18NCBI36
Celera1723,800,485 - 23,831,200 (-)NCBICelera
Cytogenetic Map17q11.2NCBI
HuRef1723,150,085 - 23,180,771 (-)NCBIHuRef
CHM1_11727,003,930 - 27,034,649 (-)NCBICHM1_1
T2T-CHM13v2.01729,557,164 - 29,587,883 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7788527   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16289875   PMID:16344560   PMID:18549609   PMID:21697133   PMID:24489812   PMID:25416956   PMID:26186194   PMID:26338045  
PMID:26496610   PMID:28514442   PMID:29117863   PMID:29395067   PMID:29507755   PMID:29867023   PMID:30089695   PMID:31091453   PMID:31495888   PMID:31980649   PMID:32513696   PMID:33277362  
PMID:33961781   PMID:35271311   PMID:35748872   PMID:35866672   PMID:36215168  


Genomics

Comparative Map Data
BLTP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381728,614,440 - 28,645,159 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1728,614,446 - 28,645,454 (-)EnsemblGRCh38hg38GRCh38
GRCh371726,941,458 - 26,972,177 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361723,965,585 - 23,996,300 (-)NCBINCBI36Build 36hg18NCBI36
Celera1723,800,485 - 23,831,200 (-)NCBICelera
Cytogenetic Map17q11.2NCBI
HuRef1723,150,085 - 23,180,771 (-)NCBIHuRef
CHM1_11727,003,930 - 27,034,649 (-)NCBICHM1_1
T2T-CHM13v2.01729,557,164 - 29,587,883 (-)NCBIT2T-CHM13v2.0
Bltp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391178,152,476 - 78,181,451 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1178,152,578 - 78,181,449 (+)EnsemblGRCm39 Ensembl
GRCm381178,261,650 - 78,290,625 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1178,261,752 - 78,290,623 (+)EnsemblGRCm38mm10GRCm38
MGSCv371178,075,256 - 78,104,127 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361178,077,951 - 78,106,818 (+)NCBIMGSCv36mm8
Celera1186,507,393 - 86,525,554 (-)NCBICelera
Celera513,343,991 - 13,344,768 (-)NCBICelera
Cytogenetic Map11B5NCBI
cM Map1146.74NCBI
Bltp2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81063,654,072 - 63,683,282 (+)NCBIGRCr8
mRatBN7.21063,155,999 - 63,185,213 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1063,156,044 - 63,191,141 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01065,523,143 - 65,552,629 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1065,523,193 - 65,552,348 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01066,084,608 - 66,114,073 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41064,344,529 - 64,373,695 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11064,358,153 - 64,387,316 (-)NCBI
Celera1062,133,695 - 62,162,844 (+)NCBICelera
Cytogenetic Map10q25NCBI
Bltp2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554814,509,799 - 4,544,706 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554814,509,840 - 4,544,706 (+)NCBIChiLan1.0ChiLan1.0
BLTP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21935,814,600 - 35,845,364 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11737,694,799 - 37,725,556 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01728,130,426 - 28,161,165 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11728,634,446 - 28,664,983 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1728,634,450 - 28,664,983 (+)Ensemblpanpan1.1panPan2
KIAA0100
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1942,817,463 - 42,847,448 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl942,817,075 - 42,847,912 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha941,973,684 - 42,003,748 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0943,635,926 - 43,665,883 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl943,635,938 - 43,665,809 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1942,419,136 - 42,449,363 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0942,711,672 - 42,741,573 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0942,789,401 - 42,819,350 (-)NCBIUU_Cfam_GSD_1.0
Bltp2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560241,959,630 - 41,987,859 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365384,837,557 - 4,865,814 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365384,837,557 - 4,865,811 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KIAA0100
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1244,859,938 - 44,893,430 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11244,853,838 - 44,893,468 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21246,844,678 - 46,878,317 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BLTP2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11622,383,058 - 22,414,910 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1622,383,677 - 22,412,701 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660757,709,945 - 7,741,857 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bltp2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247861,195,747 - 1,225,980 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247861,195,443 - 1,225,926 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BLTP2
47 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014680.3(KIAA0100):c.2854C>T (p.Arg952Cys) single nucleotide variant Malignant melanoma [RCV000071379] Chr17:28634733 [GRCh38]
Chr17:26961751 [GRCh37]
Chr17:23985878 [NCBI36]
Chr17:17q11.2		 not provided
NM_014680.3(KIAA0100):c.1367C>T (p.Pro456Leu) single nucleotide variant Malignant melanoma [RCV000071380] Chr17:28638397 [GRCh38]
Chr17:26965415 [GRCh37]
Chr17:23989542 [NCBI36]
Chr17:17q11.2		 not provided
NM_014680.3(KIAA0100):c.1239C>T (p.Pro413=) single nucleotide variant Malignant melanoma [RCV000071381] Chr17:28638633 [GRCh38]
Chr17:26965651 [GRCh37]
Chr17:23989778 [NCBI36]
Chr17:17q11.2		 not provided
NM_014680.3(KIAA0100):c.1238C>T (p.Pro413Leu) single nucleotide variant Malignant melanoma [RCV000071382] Chr17:28638634 [GRCh38]
Chr17:26965652 [GRCh37]
Chr17:23989779 [NCBI36]
Chr17:17q11.2		 not provided
NM_014680.3(KIAA0100):c.1031C>T (p.Ser344Phe) single nucleotide variant Malignant melanoma [RCV000071383] Chr17:28639627 [GRCh38]
Chr17:26966645 [GRCh37]
Chr17:23990772 [NCBI36]
Chr17:17q11.2		 not provided
NM_014680.3(KIAA0100):c.1911C>T (p.Ile637=) single nucleotide variant Malignant melanoma [RCV000063170] Chr17:28637031 [GRCh38]
Chr17:26964049 [GRCh37]
Chr17:23988176 [NCBI36]
Chr17:17q11.2		 not provided
NM_014680.5(BLTP2):c.3387G>A (p.Trp1129Ter) single nucleotide variant Malignant tumor of prostate [RCV000149216] Chr17:28633627 [GRCh38]
Chr17:26960645 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3 copy number gain See cases [RCV000136494] Chr17:28283125..28904397 [GRCh38]
Chr17:26610151..27231415 [GRCh37]
Chr17:23634278..24255541 [NCBI36]
Chr17:17q11.2		 benign
GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3 copy number gain not provided [RCV000762776] Chr17:25403446..31685464 [GRCh37]
Chr17:17q11.1-11.2		 likely 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 17q11.1-11.2(chr17:25248166-30645676)x1 copy number loss Mitogen-activated protein kinase kinase inhibitor response [RCV000626439] Chr17:25248166..30645676 [GRCh37]
Chr17:17q11.1-11.2		 drug response
NM_014680.5(BLTP2):c.6440G>T (p.Cys2147Phe) single nucleotide variant not specified [RCV004312717] Chr17:28615749 [GRCh38]
Chr17:26942767 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.1639T>C (p.Ser547Pro) single nucleotide variant not specified [RCV004292997] Chr17:28637968 [GRCh38]
Chr17:26964986 [GRCh37]
Chr17:17q11.2		 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
NM_014680.5(BLTP2):c.5954T>C (p.Leu1985Pro) single nucleotide variant not provided [RCV000677286] Chr17:28616956 [GRCh38]
Chr17:26943974 [GRCh37]
Chr17:17q11.2		 uncertain significance
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
GRCh37/hg19 17p11.2-q11.2(chr17:21279289-27474974)x2 copy number gain not provided [RCV000739439] Chr17:21279289..27474974 [GRCh37]
Chr17:17p11.2-q11.2		 likely pathogenic
NM_014680.5(BLTP2):c.2855G>T (p.Arg952Leu) single nucleotide variant not specified [RCV004300723] Chr17:28634732 [GRCh38]
Chr17:26961750 [GRCh37]
Chr17:17q11.2		 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
NM_014680.5(BLTP2):c.2862T>C (p.Tyr954=) single nucleotide variant not provided [RCV000947800] Chr17:28634725 [GRCh38]
Chr17:26961743 [GRCh37]
Chr17:17q11.2		 benign
NM_014680.5(BLTP2):c.2174C>T (p.Pro725Leu) single nucleotide variant not provided [RCV000884624] Chr17:28635413 [GRCh38]
Chr17:26962431 [GRCh37]
Chr17:17q11.2		 benign
NM_014680.5(BLTP2):c.2958T>G (p.His986Gln) single nucleotide variant not provided [RCV000969920] Chr17:28634629 [GRCh38]
Chr17:26961647 [GRCh37]
Chr17:17q11.2		 benign
NM_014680.5(BLTP2):c.717A>G (p.Gln239=) single nucleotide variant not provided [RCV000920759] Chr17:28641938 [GRCh38]
Chr17:26968956 [GRCh37]
Chr17:17q11.2		 likely benign
NM_014680.5(BLTP2):c.5505G>A (p.Met1835Ile) single nucleotide variant not specified [RCV004293435] Chr17:28619875 [GRCh38]
Chr17:26946893 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3 copy number gain not provided [RCV001006886] Chr17:25274363..28450707 [GRCh37]
Chr17:17q11.1-11.2		 pathogenic
NM_014680.5(BLTP2):c.2498A>C (p.Asp833Ala) single nucleotide variant not provided [RCV000914394] Chr17:28635089 [GRCh38]
Chr17:26962107 [GRCh37]
Chr17:17q11.2		 likely benign
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 copy number gain not provided [RCV000846852] Chr17:21690653..38772647 [GRCh37]
Chr17:17p11.2-q21.2		 pathogenic
NM_014680.5(BLTP2):c.4265C>T (p.Thr1422Ile) single nucleotide variant not specified [RCV004311542] Chr17:28631513 [GRCh38]
Chr17:26958531 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.2887C>T (p.Leu963=) single nucleotide variant not provided [RCV000963156] Chr17:28634700 [GRCh38]
Chr17:26961718 [GRCh37]
Chr17:17q11.2		 benign
GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232) copy number gain not specified [RCV002052591] Chr17:21690653..28281232 [GRCh37]
Chr17:17p11.2-q11.2		 pathogenic
NM_014680.5(BLTP2):c.5129G>C (p.Arg1710Pro) single nucleotide variant not specified [RCV004314048] Chr17:28621101 [GRCh38]
Chr17:26948119 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.5897A>G (p.Asn1966Ser) single nucleotide variant not specified [RCV004323030] Chr17:28617245 [GRCh38]
Chr17:26944263 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.2978A>G (p.Glu993Gly) single nucleotide variant not specified [RCV004314725] Chr17:28634609 [GRCh38]
Chr17:26961627 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.3180G>T (p.Gln1060His) single nucleotide variant not specified [RCV004314768] Chr17:28633977 [GRCh38]
Chr17:26960995 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.4213T>C (p.Cys1405Arg) single nucleotide variant not specified [RCV004253035] Chr17:28631565 [GRCh38]
Chr17:26958583 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.2926C>G (p.Leu976Val) single nucleotide variant not specified [RCV004284951] Chr17:28634661 [GRCh38]
Chr17:26961679 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.3169C>T (p.Arg1057Cys) single nucleotide variant not specified [RCV004263428] Chr17:28633988 [GRCh38]
Chr17:26961006 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.3173G>A (p.Arg1058Gln) single nucleotide variant not specified [RCV004318759] Chr17:28633984 [GRCh38]
Chr17:26961002 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.1610C>T (p.Thr537Ile) single nucleotide variant not specified [RCV004325957] Chr17:28637997 [GRCh38]
Chr17:26965015 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3 copy number gain Developmental delay with or without intellectual impairment or behavioral abnormalities [RCV003329553] Chr17:25263507..27829791 [GRCh37]
Chr17:17q11.1-11.2		 uncertain significance
NM_014680.5(BLTP2):c.4603A>G (p.Met1535Val) single nucleotide variant not specified [RCV004355191] Chr17:28624382 [GRCh38]
Chr17:26951400 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.2053A>G (p.Thr685Ala) single nucleotide variant not specified [RCV004362585] Chr17:28635534 [GRCh38]
Chr17:26962552 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.3520C>T (p.His1174Tyr) single nucleotide variant not specified [RCV004353663] Chr17:28633347 [GRCh38]
Chr17:26960365 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.1310C>T (p.Thr437Ile) single nucleotide variant not specified [RCV004357067] Chr17:28638562 [GRCh38]
Chr17:26965580 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.5209C>G (p.Gln1737Glu) single nucleotide variant not specified [RCV004355732] Chr17:28621021 [GRCh38]
Chr17:26948039 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.4927A>G (p.Thr1643Ala) single nucleotide variant not specified [RCV004360752] Chr17:28623792 [GRCh38]
Chr17:26950810 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.905C>T (p.Thr302Ile) single nucleotide variant not specified [RCV004363393] Chr17:28640011 [GRCh38]
Chr17:26967029 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.1571A>G (p.Asp524Gly) single nucleotide variant not specified [RCV004358282] Chr17:28638036 [GRCh38]
Chr17:26965054 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.4522A>G (p.Thr1508Ala) single nucleotide variant not provided [RCV003428199] Chr17:28628337 [GRCh38]
Chr17:26955355 [GRCh37]
Chr17:17q11.2		 likely benign
NM_014680.5(BLTP2):c.6205G>A (p.Val2069Ile) single nucleotide variant not provided [RCV003428198] Chr17:28616462 [GRCh38]
Chr17:26943480 [GRCh37]
Chr17:17q11.2		 benign
NM_014680.5(BLTP2):c.336C>T (p.Ser112=) single nucleotide variant not provided [RCV003428200] Chr17:28643224 [GRCh38]
Chr17:26970242 [GRCh37]
Chr17:17q11.2		 likely benign
NM_014680.5(BLTP2):c.1114G>C (p.Val372Leu) single nucleotide variant not specified [RCV004431618] Chr17:28639430 [GRCh38]
Chr17:26966448 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.1271C>T (p.Ser424Phe) single nucleotide variant not specified [RCV004431619] Chr17:28638601 [GRCh38]
Chr17:26965619 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.1420G>T (p.Val474Leu) single nucleotide variant not specified [RCV004431622] Chr17:28638344 [GRCh38]
Chr17:26965362 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.1490T>C (p.Val497Ala) single nucleotide variant not specified [RCV004431624] Chr17:28638274 [GRCh38]
Chr17:26965292 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.1729A>G (p.Lys577Glu) single nucleotide variant not specified [RCV004431625] Chr17:28637878 [GRCh38]
Chr17:26964896 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.2224G>T (p.Ala742Ser) single nucleotide variant not specified [RCV004431633] Chr17:28635363 [GRCh38]
Chr17:26962381 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.2248A>G (p.Ile750Val) single nucleotide variant not specified [RCV004431634] Chr17:28635339 [GRCh38]
Chr17:26962357 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.2339A>G (p.Asn780Ser) single nucleotide variant not specified [RCV004431637] Chr17:28635248 [GRCh38]
Chr17:26962266 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.2629T>C (p.Phe877Leu) single nucleotide variant not specified [RCV004431641] Chr17:28634958 [GRCh38]
Chr17:26961976 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.2804A>C (p.Tyr935Ser) single nucleotide variant not specified [RCV004431644] Chr17:28634783 [GRCh38]
Chr17:26961801 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.3566A>G (p.Asn1189Ser) single nucleotide variant not specified [RCV004431655] Chr17:28633301 [GRCh38]
Chr17:26960319 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.4943G>A (p.Arg1648Gln) single nucleotide variant not specified [RCV004431664] Chr17:28623776 [GRCh38]
Chr17:26950794 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.5284A>G (p.Ile1762Val) single nucleotide variant not specified [RCV004431668] Chr17:28620589 [GRCh38]
Chr17:26947607 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.5614G>C (p.Glu1872Gln) single nucleotide variant not specified [RCV004431670] Chr17:28619682 [GRCh38]
Chr17:26946700 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.670G>T (p.Val224Leu) single nucleotide variant not specified [RCV004431675] Chr17:28641985 [GRCh38]
Chr17:26969003 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.107G>A (p.Arg36Gln) single nucleotide variant not specified [RCV004431617] Chr17:28644149 [GRCh38]
Chr17:26971167 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.2200G>C (p.Glu734Gln) single nucleotide variant not specified [RCV004431631] Chr17:28635387 [GRCh38]
Chr17:26962405 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.2281C>T (p.Arg761Trp) single nucleotide variant not specified [RCV004431635] Chr17:28635306 [GRCh38]
Chr17:26962324 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.3139G>C (p.Gly1047Arg) single nucleotide variant not specified [RCV004431648] Chr17:28634018 [GRCh38]
Chr17:26961036 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.3176G>A (p.Arg1059His) single nucleotide variant not specified [RCV004431649] Chr17:28633981 [GRCh38]
Chr17:26960999 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.473A>T (p.Gln158Leu) single nucleotide variant not specified [RCV004431661] Chr17:28642911 [GRCh38]
Chr17:26969929 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.5014A>G (p.Met1672Val) single nucleotide variant not specified [RCV004431665] Chr17:28621444 [GRCh38]
Chr17:26948462 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.5929A>T (p.Ser1977Cys) single nucleotide variant not specified [RCV004431671] Chr17:28616981 [GRCh38]
Chr17:26943999 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.5930G>A (p.Ser1977Asn) single nucleotide variant not specified [RCV004431672] Chr17:28616980 [GRCh38]
Chr17:26943998 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.769G>A (p.Val257Met) single nucleotide variant not specified [RCV004431676] Chr17:28640681 [GRCh38]
Chr17:26967699 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.1037G>A (p.Ser346Asn) single nucleotide variant not specified [RCV004431616] Chr17:28639621 [GRCh38]
Chr17:26966639 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.142C>T (p.Arg48Cys) single nucleotide variant not specified [RCV004431623] Chr17:28644114 [GRCh38]
Chr17:26971132 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.1874C>T (p.Thr625Met) single nucleotide variant not specified [RCV004431627] Chr17:28637068 [GRCh38]
Chr17:26964086 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.2171C>A (p.Pro724His) single nucleotide variant not specified [RCV004431630] Chr17:28635416 [GRCh38]
Chr17:26962434 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.2513T>C (p.Leu838Pro) single nucleotide variant not specified [RCV004431639] Chr17:28635074 [GRCh38]
Chr17:26962092 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.3263C>T (p.Ser1088Leu) single nucleotide variant not specified [RCV004431651] Chr17:28633751 [GRCh38]
Chr17:26960769 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.337G>A (p.Ala113Thr) single nucleotide variant not specified [RCV004431653] Chr17:28643223 [GRCh38]
Chr17:26970241 [GRCh37]
Chr17:17q11.2		 likely benign
NM_014680.5(BLTP2):c.34C>G (p.Leu12Val) single nucleotide variant not specified [RCV004431654] Chr17:28645023 [GRCh38]
Chr17:26972041 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.3688C>T (p.Arg1230Trp) single nucleotide variant not specified [RCV004431656] Chr17:28633059 [GRCh38]
Chr17:26960077 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.3232C>G (p.Pro1078Ala) single nucleotide variant not specified [RCV004431650] Chr17:28633925 [GRCh38]
Chr17:26960943 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.379T>A (p.Leu127Met) single nucleotide variant not specified [RCV004431657] Chr17:28643181 [GRCh38]
Chr17:26970199 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.4514G>A (p.Gly1505Asp) single nucleotide variant not specified [RCV004431659] Chr17:28628345 [GRCh38]
Chr17:26955363 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.4649C>T (p.Thr1550Ile) single nucleotide variant not specified [RCV004431660] Chr17:28624336 [GRCh38]
Chr17:26951354 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.5182A>G (p.Ile1728Val) single nucleotide variant not specified [RCV004431667] Chr17:28621048 [GRCh38]
Chr17:26948066 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.1280A>G (p.Asn427Ser) single nucleotide variant not specified [RCV004431620] Chr17:28638592 [GRCh38]
Chr17:26965610 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.1937T>C (p.Met646Thr) single nucleotide variant not specified [RCV004431628] Chr17:28637005 [GRCh38]
Chr17:26964023 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.2727G>C (p.Gln909His) single nucleotide variant not specified [RCV004431642] Chr17:28634860 [GRCh38]
Chr17:26961878 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.2806G>T (p.Ala936Ser) single nucleotide variant not specified [RCV004431645] Chr17:28634781 [GRCh38]
Chr17:26961799 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.3031T>C (p.Trp1011Arg) single nucleotide variant not specified [RCV004431646] Chr17:28634556 [GRCh38]
Chr17:26961574 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.3271T>C (p.Phe1091Leu) single nucleotide variant not specified [RCV004431652] Chr17:28633743 [GRCh38]
Chr17:26960761 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.5409C>G (p.Ile1803Met) single nucleotide variant not specified [RCV004431669] Chr17:28619971 [GRCh38]
Chr17:26946989 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.1418G>A (p.Arg473His) single nucleotide variant not specified [RCV004431621] Chr17:28638346 [GRCh38]
Chr17:26965364 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.1753A>G (p.Thr585Ala) single nucleotide variant not specified [RCV004431626] Chr17:28637854 [GRCh38]
Chr17:26964872 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.3110G>A (p.Arg1037His) single nucleotide variant not specified [RCV004431647] Chr17:28634047 [GRCh38]
Chr17:26961065 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.4288A>G (p.Thr1430Ala) single nucleotide variant not specified [RCV004431658] Chr17:28631490 [GRCh38]
Chr17:26958508 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.4853C>A (p.Thr1618Lys) single nucleotide variant not specified [RCV004431663] Chr17:28623866 [GRCh38]
Chr17:26950884 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.7C>G (p.Leu3Val) single nucleotide variant not specified [RCV004431677] Chr17:28645050 [GRCh38]
Chr17:26972068 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.6028G>A (p.Val2010Met) single nucleotide variant not specified [RCV004431674] Chr17:28616747 [GRCh38]
Chr17:26943765 [GRCh37]
Chr17:17q11.2		 uncertain significance
NC_000017.10:g.(?_26684694)_(27581367_?)dup duplication not provided [RCV003116316] Chr17:26684694..27581367 [GRCh37]
Chr17:17q11.2		 uncertain significance
NC_000017.10:g.(?_26684694)_(29701173_?)dup duplication not provided [RCV003123018] Chr17:26684694..29701173 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.3370C>T (p.Pro1124Ser) single nucleotide variant not specified [RCV004327456] Chr17:28633644 [GRCh38]
Chr17:26960662 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.2917C>G (p.Leu973Val) single nucleotide variant not specified [RCV004271703] Chr17:28634670 [GRCh38]
Chr17:26961688 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.1177G>A (p.Ala393Thr) single nucleotide variant not specified [RCV004343315] Chr17:28639367 [GRCh38]
Chr17:26966385 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.4115G>A (p.Arg1372His) single nucleotide variant not specified [RCV004340068] Chr17:28631663 [GRCh38]
Chr17:26958681 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.981T>A (p.Asp327Glu) single nucleotide variant not specified [RCV004349423] Chr17:28639935 [GRCh38]
Chr17:26966953 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.3579C>G (p.Ala1193=) single nucleotide variant not provided [RCV003419688] Chr17:28633288 [GRCh38]
Chr17:26960306 [GRCh37]
Chr17:17q11.2		 likely benign
NM_014680.5(BLTP2):c.4540C>T (p.Pro1514Ser) single nucleotide variant not provided [RCV003413179] Chr17:28628319 [GRCh38]
Chr17:26955337 [GRCh37]
Chr17:17q11.2		 likely benign
NM_014680.5(BLTP2):c.653C>T (p.Thr218Ile) single nucleotide variant not provided [RCV003413180] Chr17:28642002 [GRCh38]
Chr17:26969020 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.2152C>T (p.Arg718Cys) single nucleotide variant not specified [RCV004431629] Chr17:28635435 [GRCh38]
Chr17:26962453 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.2207G>A (p.Ser736Asn) single nucleotide variant not specified [RCV004431632] Chr17:28635380 [GRCh38]
Chr17:26962398 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.2316G>T (p.Glu772Asp) single nucleotide variant not specified [RCV004431636] Chr17:28635271 [GRCh38]
Chr17:26962289 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.2438G>A (p.Arg813Gln) single nucleotide variant not specified [RCV004431638] Chr17:28635149 [GRCh38]
Chr17:26962167 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.2576C>T (p.Ala859Val) single nucleotide variant not specified [RCV004431640] Chr17:28635011 [GRCh38]
Chr17:26962029 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.2747C>T (p.Ala916Val) single nucleotide variant not specified [RCV004431643] Chr17:28634840 [GRCh38]
Chr17:26961858 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_014680.5(BLTP2):c.478A>C (p.Ser160Arg) single nucleotide variant not specified [RCV004431662] Chr17:28642906 [GRCh38]
Chr17:26969924 [GRCh37]
Chr17:17q11.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3321
Count of miRNA genes:1090
Interacting mature miRNAs:1363
Transcripts:ENST00000389003, ENST00000528896, ENST00000544884, ENST00000577261, ENST00000577417, ENST00000577580, ENST00000579253, ENST00000579924, ENST00000580395, ENST00000580882, ENST00000581064, ENST00000581267, ENST00000582417, ENST00000582901, ENST00000583403, ENST00000583860
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
SHGC-12628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371726,941,772 - 26,942,073UniSTSGRCh37
Build 361723,965,899 - 23,966,200RGDNCBI36
Celera1723,800,799 - 23,801,100RGD
Cytogenetic Map17q11.2UniSTS
HuRef1723,150,399 - 23,150,700UniSTS
Stanford-G3 RH Map171044.0UniSTS
GeneMap99-G3 RH Map171545.0UniSTS
RH10564  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371726,941,582 - 26,941,728UniSTSGRCh37
Build 361723,965,709 - 23,965,855RGDNCBI36
Celera1723,800,609 - 23,800,755RGD
Cytogenetic Map17q11.2UniSTS
HuRef1723,150,209 - 23,150,355UniSTS
RH25327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371726,943,678 - 26,944,280UniSTSGRCh37
Build 361723,967,805 - 23,968,407RGDNCBI36
Celera1723,802,705 - 23,803,307RGD
Cytogenetic Map17q11.2UniSTS
HuRef1723,152,305 - 23,152,907UniSTS
D17S1405E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371726,941,562 - 26,941,713UniSTSGRCh37
Build 361723,965,689 - 23,965,840RGDNCBI36
Celera1723,800,589 - 23,800,740RGD
Cytogenetic Map17q11.2UniSTS
HuRef1723,150,189 - 23,150,340UniSTS
D17S1484E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371726,946,956 - 26,947,565UniSTSGRCh37
Build 361723,971,083 - 23,971,692RGDNCBI36
Celera1723,805,983 - 23,806,592RGD
Cytogenetic Map17q11.2UniSTS
HuRef1723,155,583 - 23,156,192UniSTS
G19761  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371726,941,582 - 26,941,728UniSTSGRCh37
Build 361723,965,709 - 23,965,855RGDNCBI36
Celera1723,800,609 - 23,800,755RGD
Cytogenetic Map17q11.2UniSTS
HuRef1723,150,209 - 23,150,355UniSTS
SHGC-31911  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371726,941,499 - 26,941,649UniSTSGRCh37
Build 361723,965,626 - 23,965,776RGDNCBI36
Celera1723,800,526 - 23,800,676RGD
Cytogenetic Map17q11.2UniSTS
HuRef1723,150,126 - 23,150,276UniSTS
Stanford-G3 RH Map171069.0UniSTS
GeneMap99-G3 RH Map171570.0UniSTS


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
Medium 2437 2568 1537 437 1700 279 4354 2060 3408 408 1459 1611 174 1 1203 2785 6 2
Low 2 423 189 187 251 186 3 137 326 11 1 2 1 1 3
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_053109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB621823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW161205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY943906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC048096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC120873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM999622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN482281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR933634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D43947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB152098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000389003   ⟹   ENSP00000467716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,614,882 - 28,645,454 (-)Ensembl
RefSeq Acc Id: ENST00000528896   ⟹   ENSP00000436773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,614,446 - 28,645,158 (-)Ensembl
RefSeq Acc Id: ENST00000544884   ⟹   ENSP00000446443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,614,878 - 28,645,454 (-)Ensembl
RefSeq Acc Id: ENST00000577261   ⟹   ENSP00000467944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,631,484 - 28,633,653 (-)Ensembl
RefSeq Acc Id: ENST00000577417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,639,316 - 28,645,111 (-)Ensembl
RefSeq Acc Id: ENST00000577580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,639,966 - 28,642,481 (-)Ensembl
RefSeq Acc Id: ENST00000579253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,640,397 - 28,642,047 (-)Ensembl
RefSeq Acc Id: ENST00000579924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,616,667 - 28,619,775 (-)Ensembl
RefSeq Acc Id: ENST00000580395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,618,718 - 28,620,060 (-)Ensembl
RefSeq Acc Id: ENST00000580882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,639,061 - 28,645,155 (-)Ensembl
RefSeq Acc Id: ENST00000581064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,633,686 - 28,634,670 (-)Ensembl
RefSeq Acc Id: ENST00000581267   ⟹   ENSP00000466636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,639,315 - 28,641,930 (-)Ensembl
RefSeq Acc Id: ENST00000582417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,632,081 - 28,633,476 (-)Ensembl
RefSeq Acc Id: ENST00000582901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,642,063 - 28,643,280 (-)Ensembl
RefSeq Acc Id: ENST00000583403   ⟹   ENSP00000463618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,639,687 - 28,645,148 (-)Ensembl
RefSeq Acc Id: ENST00000583860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,616,260 - 28,616,934 (-)Ensembl
RefSeq Acc Id: NM_001321560   ⟹   NP_001308489
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,614,446 - 28,645,158 (-)NCBI
T2T-CHM13v2.01729,557,170 - 29,587,882 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321561   ⟹   NP_001308490
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,639,061 - 28,645,158 (-)NCBI
T2T-CHM13v2.01729,581,785 - 29,587,882 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363826   ⟹   NP_001350755
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,614,440 - 28,645,159 (-)NCBI
T2T-CHM13v2.01729,557,164 - 29,587,883 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363827   ⟹   NP_001350756
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,614,440 - 28,645,159 (-)NCBI
T2T-CHM13v2.01729,557,164 - 29,587,883 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363828   ⟹   NP_001350757
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,614,440 - 28,645,159 (-)NCBI
T2T-CHM13v2.01729,557,164 - 29,587,883 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363829   ⟹   NP_001350758
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,614,440 - 28,645,159 (-)NCBI
T2T-CHM13v2.01729,557,164 - 29,587,883 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014680   ⟹   NP_055495
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,614,446 - 28,645,158 (-)NCBI
GRCh371726,941,458 - 26,972,177 (-)NCBI
Build 361723,965,585 - 23,996,300 (-)NCBI Archive
Celera1723,800,485 - 23,831,200 (-)RGD
HuRef1723,150,085 - 23,180,771 (-)NCBI
CHM1_11727,003,930 - 27,034,649 (-)NCBI
T2T-CHM13v2.01729,557,170 - 29,587,882 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047437146   ⟹   XP_047293102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,624,271 - 28,645,159 (-)NCBI
RefSeq Acc Id: XM_054317962   ⟹   XP_054173937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01729,566,995 - 29,587,883 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_055495   ⟸   NM_014680
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6ZP51 (UniProtKB/Swiss-Prot),   Q6WG74 (UniProtKB/Swiss-Prot),   Q5H9T4 (UniProtKB/Swiss-Prot),   Q49A07 (UniProtKB/Swiss-Prot),   Q3SYN5 (UniProtKB/Swiss-Prot),   A6NCX3 (UniProtKB/Swiss-Prot),   Q96HH8 (UniProtKB/Swiss-Prot),   Q14667 (UniProtKB/Swiss-Prot),   A0A024QZ66 (UniProtKB/TrEMBL),   K7EQ86 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308489   ⟸   NM_001321560
- Peptide Label: isoform 2 precursor
- UniProtKB: A0A024QZ66 (UniProtKB/TrEMBL),   K7EQ86 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308490   ⟸   NM_001321561
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001350755   ⟸   NM_001363826
- Peptide Label: isoform 4
- UniProtKB: Q08E86 (UniProtKB/TrEMBL),   A0A024QZ66 (UniProtKB/TrEMBL),   K7EQ86 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001350756   ⟸   NM_001363827
- Peptide Label: isoform 5
- UniProtKB: A0A024QZ66 (UniProtKB/TrEMBL),   K7EQ86 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001350757   ⟸   NM_001363828
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001350758   ⟸   NM_001363829
- Peptide Label: isoform 7
RefSeq Acc Id: ENSP00000466636   ⟸   ENST00000581267
RefSeq Acc Id: ENSP00000463618   ⟸   ENST00000583403
RefSeq Acc Id: ENSP00000446443   ⟸   ENST00000544884
RefSeq Acc Id: ENSP00000467716   ⟸   ENST00000389003
RefSeq Acc Id: ENSP00000467944   ⟸   ENST00000577261
RefSeq Acc Id: ENSP00000436773   ⟸   ENST00000528896
RefSeq Acc Id: XP_047293102   ⟸   XM_047437146
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054173937   ⟸   XM_054317962
- Peptide Label: isoform X1
Protein Domains
FMP27/BLTP2/Hobbit GFWDK motif-containing RBG unit

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14667-F1-model_v2 AlphaFold Q14667 1-2235 view protein structure

Promoters
RGD ID:7234405
Promoter ID:EPDNEW_H22948
Type:initiation region
Name:KIAA0100_1
Description:KIAA0100
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22949  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,645,156 - 28,645,216EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28960 AgrOrtholog
COSMIC BLTP2 COSMIC
Ensembl Genes ENSG00000007202 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000389003 ENTREZGENE
  ENST00000389003.7 UniProtKB/TrEMBL
  ENST00000528896 ENTREZGENE
  ENST00000528896.7 UniProtKB/Swiss-Prot
  ENST00000577261.1 UniProtKB/TrEMBL
  ENST00000580882 ENTREZGENE
  ENST00000581267.1 UniProtKB/TrEMBL
  ENST00000583403.5 UniProtKB/TrEMBL
GTEx ENSG00000007202 GTEx
HGNC ID HGNC:28960 ENTREZGENE
Human Proteome Map BLTP2 Human Proteome Map
InterPro BLTP2_RBG6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FMP27 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FMP27_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FMP27_GFWDK_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FMP27_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9703 UniProtKB/Swiss-Prot
NCBI Gene 9703 ENTREZGENE
OMIM 610664 OMIM
PANTHER PROTEIN KIAA0100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15678 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Apt1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BLTP2_RBG-6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fmp27 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fmp27_GFWDK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671635 PharmGKB
SMART Fmp27_GFWDK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024QZ66 ENTREZGENE
  A6NCX3 ENTREZGENE
  J3QLM5_HUMAN UniProtKB/TrEMBL
  K0100_HUMAN UniProtKB/Swiss-Prot
  K7EMT1_HUMAN UniProtKB/TrEMBL
  K7EQ86 ENTREZGENE, UniProtKB/TrEMBL
  K7EQR3_HUMAN UniProtKB/TrEMBL
  Q08E86 ENTREZGENE, UniProtKB/TrEMBL
  Q14667 ENTREZGENE
  Q3SYN5 ENTREZGENE
  Q49A07 ENTREZGENE
  Q5H9T4 ENTREZGENE
  Q6WG74 ENTREZGENE
  Q6ZP51 ENTREZGENE
  Q96HH8 ENTREZGENE
UniProt Secondary A0A024QZ66 UniProtKB/TrEMBL
  A6NCX3 UniProtKB/Swiss-Prot
  Q3SYN5 UniProtKB/Swiss-Prot
  Q49A07 UniProtKB/Swiss-Prot
  Q5H9T4 UniProtKB/Swiss-Prot
  Q6WG74 UniProtKB/Swiss-Prot
  Q6ZP51 UniProtKB/Swiss-Prot
  Q96HH8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-06-06 BLTP2  bridge-like lipid transfer protein family member 2  KIAA0100  KIAA0100  Symbol and/or name change 19259463 PROVISIONAL