HelmholtzZentrum munich
WCMC

Connecting genetic risk to disease endpoints through the human blood plasma proteome

ONLINE SUPPLEMENTARY INFORMATION

Home
Ideogram
Loci
Network view
Proteome annotation
Help
Locus annotations

Locus 330

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
MICB cis Discovery rs35555795 6:26,509,382 C/T 0.08 993 -0.596 0.079 1.3×10-13 -1.160 1.5×10-4 0.816
MICB cis Replication rs9379900 6:26,603,811 A/C 0.07 337 -0.068 0.123 0.584 -1.010 0.857 0.764

 

Regional association plots

MHC class I polypeptide-related sequence B (MICB)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

MHC class I polypeptide-related sequence B (MICB)

inverse-normalized probe levels log2 transformed probe levels raw probe levels
Discovery study
Replication study

MHC class I polypeptide-related sequence B (MICB)

Target (abbrv.) MICB
Target (full name) MHC class I polypeptide-related sequence B
Somalogic ID (Sequence ID) SL005200 (5102-55_3)
Entrez Gene Symbol MICB
UniProt ID Q29980
UniProt Comment
  • Seems to have no role in antigen presentation. Acts as a stress-induced self-antigen that is recognized by gamma delta T cells. Ligand for the KLRK1/NKG2D receptor. Binding to KLRK1 leads to cell lysis.
Biomarker applications (based on IPA annotation)
  • safety
Pathway Studio
  • Natural Killer Cell Activation
  • Natural Killer Cell Activation through C-type Lectin-like Receptors

All locus annotations are based on the sentinel SNP (rs35555795) and 56 proxy variant(s) that is/are in linkage disequilibrium r2 ≥ 0.8. Linkage disequilibrium is based on data from the 1000 Genomes Project, phase 3 version 5, European population and was retrieved using SNiPA's Block Annotation feature.
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by
  • BTN3A3 butyrophilin, subfamily 3, member A3
  • BTN2A1 butyrophilin, subfamily 2, member A1
  • BTN1A1 butyrophilin, subfamily 1, member A1
  • CTA-14H9.5
  • HCG11 HLA complex group 11 (non-protein coding)
  • HMGN4 high mobility group nucleosomal binding domain 4
  • ABT1 activator of basal transcription 1
  • RP11-457M11.7
  • RP11-457M11.6
  • ZNF322 zinc finger protein 322
  • GUSBP2 glucuronidase, beta pseudogene 2
  • POM121L6P POM121 transmembrane nucleoporin-like 6 pseudogene
  • LINC00240 long intergenic non-protein coding RNA 240
Potentially regulated genes
  • BTN1A1 butyrophilin, subfamily 1, member A1
  • BTN3A2 butyrophilin, subfamily 3, member A2
  • BTN3A3 butyrophilin, subfamily 3, member A3
  • BTN3A1 butyrophilin, subfamily 3, member A1
  • HMGN4 high mobility group nucleosomal binding domain 4
  • ABT1 activator of basal transcription 1
  • HIST1H4D histone cluster 1, H4d
  • HIST1H2AD histone cluster 1, H2ad
  • HIST1H2BD histone cluster 1, H2bd
  • HIST1H4E histone cluster 1, H4e
  • HIST1H3F histone cluster 1, H3f
  • HIST1H4C histone cluster 1, H4c
  • HIST1H2BF histone cluster 1, H2bf
  • HCG11 HLA complex group 11 (non-protein coding)
  • VN1R13P vomeronasal 1 receptor 13 pseudogene
eQTL genes
  • BTN2A2 butyrophilin, subfamily 2, member A2
  • BTN3A2 butyrophilin, subfamily 3, member A2
  • HIST1H4H histone cluster 1, H4h
  • SCGN secretagogin, EF-hand calcium binding protein
  • TRIM38 tripartite motif containing 38
  • ZNF391 zinc finger protein 391
  • PRSS16 protease, serine, 16 (thymus)
  • HIST1H2BD histone cluster 1, H2bd
  • BTN3A3 butyrophilin, subfamily 3, member A3
  • HIST1H4J histone cluster 1, H4j

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of BTN3A2///BTN3A3 in blood 1.3×10-134 21829388 (PMID) GRASP2 eQTL
Gene expression of BTN3A2 in peripheral blood monocytes 5.3×10-108 20502693 (PMID) GRASP2 eQTL
Gene expression of BTN3A2 in blood 2.3×10-88 21829388 (PMID) GRASP2 eQTL
Schizophrenia 3.2×10-26 25056061 (PMID) Supplemental file
Gene expression of BTN3A2 [probe 209846_s_at] in lymphoblastoid cell lines 7.3×10-22 17873877 (PMID) GRASP2 eQTL
Gene expression of BTN3A2 (probeID ILMN_1676528) in cerebellum in Alzheimer's disease cases and controls 3.2×10-21 22685416 (PMID) GRASP2 eQTL
Gene expression of BTN3A2 [probe 204820_s_at] in lymphoblastoid cell lines 3.5×10-21 17873877 (PMID) GRASP2 eQTL
Gene expression of BTN3A3 [probe 204820_s_at] in lymphoblastoid cell lines 3.5×10-21 17873877 (PMID) GRASP2 eQTL
Gene expression of BTN3A2 in lymphoblastoid cell lines 2×10-20 17873877 (PMID) GRASP2 eQTL
Gene expression of BTN3A3 in lymphoblastoid cell lines 4.3×10-20 17873877 (PMID) GRASP2 eQTL
Gene expression of BTN3A2 [probe 212613_at] in lymphoblastoid cell lines 1.4×10-19 17873877 (PMID) GRASP2 eQTL
Gene expression of BTN3A3 in blood cells in Celiac disease 2.2×10-16 19128478 (PMID) GRASP2 eQTL
Gene expression of BTN3A2 (probeID ILMN_1676528) in temporal cortex in Alzheimer's disease cases and controls 3.6×10-16 22685416 (PMID) GRASP2 eQTL
Gene expression of BTN3A2 in blood cells in Celiac disease 1.3×10-15 19128478 (PMID) GRASP2 eQTL
cg21579726 (chr6:26600073) 4.7×10-13 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of HIST1H2BD in peripheral blood monocytes 3.2×10-12 20502693 (PMID) GRASP2 eQTL
Gene expression of BTN3A2 (probeID ILMN_1676528) in cerebellum in Alzheimer's disease cases 9.1×10-12 22685416 (PMID) GRASP2 eQTL
Lupus erythematosus, systemic 1.2×10-10 pha002848 (dbGaP) dbGaP via SNiPA
Gene expression of BTN3A2 (probeID ILMN_1676528) in cerebellum in non-Alzheimer's disease samples 1.3×10-10 22685416 (PMID) GRASP2 eQTL
Gene expression of HLA-DRB4 in peripheral blood monocytes 1.7×10-10 20502693 (PMID) GRASP2 eQTL
Differential exon level expression of BTN3A2 [probe 2899316] in peripheral blood mononuclear cells 2.6×10-10 19222302 (PMID) GRASP2 eQTL
Gene expression of HLA-A29.1 in peripheral blood monocytes 4×10-10 20502693 (PMID) GRASP2 eQTL
Gene expression of HLA-A in peripheral blood monocytes 4×10-10 20502693 (PMID) GRASP2 eQTL
Differential exon level expression of BTN3A2 [probe 2899336] in peripheral blood mononuclear cells 1.6×10-7 19222302 (PMID) GRASP2 eQTL
Gene expression of HLA-DQA1 in peripheral blood monocytes 1.7×10-7 20502693 (PMID) GRASP2 eQTL
Gene expression of BTN3A2 (probeID ILMN_1676528) in cerebellum in Progressive Supranuclear Palsy cases 2.6×10-7 22685416 (PMID) GRASP2 eQTL
Gene expression of HLA-DRB1 in peripheral blood monocytes 2.9×10-7 20502693 (PMID) GRASP2 eQTL
Gene expression of BTN3A2 (probeID ILMN_1676528) in temporal cortex in Alzheimer's disease cases 3.3×10-7 22685416 (PMID) GRASP2 eQTL
Gene expression of ZKSCAN4 in peripheral blood monocytes 3.4×10-7 20502693 (PMID) GRASP2 eQTL
Gene expression of VARS2 in peripheral blood monocytes 6.4×10-7 20502693 (PMID) GRASP2 eQTL
Bipolar disorder vs. Schizophrenia 7.8×10-7 24280982 (PMID) Supplemental file
phenol sulfate 8.8×10-7 24816252 (PMID) gwas.eu via SNiPA
Cross-disorder, subset Schizophrenia 1.3×10-6 23453885 (PMID) Supplemental file
Gene expression of BTN3A2 (probeID ILMN_1676528) in temporal cortex in Progressive Supranuclear Palsy cases 2.1×10-6 22685416 (PMID) GRASP2 eQTL
Gene expression of TUBB in peripheral blood monocytes 3.4×10-6 20502693 (PMID) GRASP2 eQTL
Differential exon level expression of BTN3A2 [probe 2899335] in peripheral blood mononuclear cells 4.1×10-6 19222302 (PMID) GRASP2 eQTL
Gene expression of BTN3A2 [probe 2899333] in peripheral blood mononuclear cells 7×10-6 19222302 (PMID) GRASP2 eQTL
Gene expression of BTN3A2 [probe 2899298] in peripheral blood mononuclear cells 7.6×10-6 19222302 (PMID) GRASP2 eQTL
Gene expression of HIST1H4H in blood 1×10-5 21829388 (PMID) GRASP2 eQTL
Cardiac neonatal lupus 1.4×10-5 20662065 (PMID) GRASP2 nonQTL
Lung function, forced expiratory volume in 1 second (FEV1) 8.9×10-5 20010835 (PMID) GRASP2 nonQTL
Lung function, ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC) 4.2×10-4 20010835 (PMID) GRASP2 nonQTL