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 277

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 rs3130991 6:31,087,354 C/T 0.34 995 0.361 0.045 3.6×10-15 1.140 7.5×10-9 0.018
MICB cis Replication rs3131001 6:31,091,531 C/A 0.38 337 0.075 0.068 0.271 1.030 0.411 0.668

 

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 (rs3130991) and 28 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.

Linked genes

Genes hit or close-by
  • C6orf15 chromosome 6 open reading frame 15
  • CDSN corneodesmosin
  • PSORS1C1 psoriasis susceptibility 1 candidate 1
Potentially regulated genes
eQTL genes
  • HCG27 HLA complex group 27 (non-protein coding)
  • PSORS1C3 psoriasis susceptibility 1 candidate 3 (non-protein coding)
  • PSORS1C2 psoriasis susceptibility 1 candidate 2
  • HLA-C major histocompatibility complex, class I, C
  • DDR1 discoidin domain receptor tyrosine kinase 1
  • TCF19 transcription factor 19
  • C6orf15 chromosome 6 open reading frame 15
  • XXbac-BPG248L24.12
  • CYP21A1P cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene
  • MICB MHC class I polypeptide-related sequence B
  • POU5F1 POU class 5 homeobox 1
  • PSORS1C1 psoriasis susceptibility 1 candidate 1
  • HCG22 HLA complex group 22
  • HLA-L major histocompatibility complex, class I, L (pseudogene)
  • LINC00243
  • XXbac-BPG299F13.17
  • HLA-B major histocompatibility complex, class I, B

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of HCG27 in blood 8×10-25 21829388 (PMID) GRASP2 eQTL
Total cholesterol 4.5×10-11 24097068 (PMID) Supplemental file
Gene expression of CCHCR1 [probe 37424_at] in lymphoblastoid cell lines 1.7×10-9 17873877 (PMID) GRASP2 eQTL
Gene expression of CCHCR1 [probe 42361_g_at] in lymphoblastoid cell lines 5.2×10-9 17873877 (PMID) GRASP2 eQTL
HIV-1 control (viral load at set point) 2.1×10-8 20041166 (PMID) GRASP2 nonQTL
HIV-1 control 4.5×10-8 21051598 (PMID) GRASP2 nonQTL
Triglycerides 1.8×10-7 20686565 (PMID) GRASP2 nonQTL
hyodeoxycholate 6.8×10-5 24816252 (PMID) gwas.eu via SNiPA
Behcet syndrome 9×10-5 pha002888 (dbGaP) dbGaP via SNiPA
Spine bone mineral density (BMD) 1.9×10-4 18445777 (PMID) GRASP2 nonQTL
Ulcerative collitis 2.9×10-4 Supplemental file
LDL cholesterol 3.5×10-4 19060906 (PMID) GRASP2 nonQTL
Pemphigus vulgaris 4.1×10-4 22437316 (PMID) GRASP2 nonQTL