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WCMC

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

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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 6.7×10-5 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