PharmGKB: The Pharmacogenomics Knowledge Base

Gene:
IL18RAP
interleukin 18 receptor accessory protein

Overview

Alternate Names: IL-18 receptor beta; OTTHUMP00000161337; accessory protein-like
Alternate Symbols: ACPL; AcPL; CD218b; CDw218b; IL18RB; MGC120589; MGC120590
PharmGKB Accession Id: PA29805

Details

Cytogenetic Location: chr2 : q11.2
GP mRNA Boundary†: chr2 : 102401686 - 102435457
GP Gene Boundary†: chr2 : 102391686 - 102438457
Strand: plus
Product Name: IL-18 receptor beta splice variant, accessory protein-like, interleukin 18 receptor accessory protein, interleukin 18 receptor accessory protein precursor
† The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

Curated Annotations (Curated Annotation)

  1. rs917997 at chr2:102437000 in IL18RAP
    In a case - control study, this variant was shown to be strongly associated with susceptibility to Crohn's Disease and to Ulcerative Colitis.
    Related Diseases:
    Colitis, Ulcerative, Crohn Disease
    Evidence:
    PMID:18439550
Variant names are different names that have been used in the literature and other resources to refer to the same variant.

Curated Information

The following diseases are in curated knowledge about this gene.

  Disease Relationship Evidence
No phenotype data No genotype data Literature annotations available Not annotated
Celiac Disease
  •   
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Colitis, Ulcerative
  • CO
  •   
  •   
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
Crohn Disease
  • CO
  •   
  •   
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
Diabetes Mellitus, Type 1
  •   
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Inflammatory Bowel Diseases
  • CO
  •   
  •   
  •   
  • GN
Publications

LinkOuts

Entrez Gene ID:
8807
OMIM Accession:
604509
UCSC Genome Browser ID:
NM_003853
Ref Seq NM Accession:
NM_003853
Ref Seq NP Accession:
AAC72196
AAH69630
AAI06765
AAI06766
AAI37475
AAI37476
AAY15049
AAY15080
AAZ52551
BAG61837
EAX01791
NP_003844
O95256
Q2QDE5
Q3KPE8
Ref Seq NT Accession:
AC_000045
AC_000134
NC_000002
NG_011481
NT_022171
NW_001838818
NW_928052
UniProtKB Accesssion:
I18RA_HUMAN (O95256)
Ensembl ID:
ENSG00000115607
GenAtlas ID:
IL18RAP
GeneCard ID:
IL18RAP
SOURCE ID:
IL18RAP
MutDB ID:
IL18RAP
PromoLign ID:
ortho_1107
HuGE ID:
IL18RAP
ModBase:
O95256

Common Searches

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