Overview
| Alternate Names: | OTTHUMP00000013947; T cell costimulatory molecule B7x; immune costimulatory protein B7-H4 |
|---|---|
| Alternate Symbols: | B7-H4; B7H4; B7S1; B7X; B7h.5; FLJ22418; PRO1291; RP11-229A19.4; VCTN1 |
| PharmGKB Accession Id: | PA142670611 |
Details
| Cytogenetic Location: | chr1 : p13.1 |
|---|---|
| GP mRNA Boundary†: | chr1 : 117487737 - 117555070 |
| GP Gene Boundary†: | chr1 : 117484737 - 117565070 |
| Strand: | minus |
| Product Name: | T cell costimulatory molecule B7x, V-set domain containing T cell activation inhibitor 1, immune costimulatory protein B7-H4 |
†
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.
Non-Curated Annotations (
)
-
rs12046117
at chr1:117552888
in
VTCN1
GWAS results: Identification of a novel susceptibility locus for juvenile idiopathic arthritis by genome-wide association analysis. (Initial Sample Size: 279 cases, 184 controls; Replication Sample Size: up to 654 cases, 1,847 controls); (Region: 1p13.1; Reported Gene(s): VTCN1; Risk Allele: rs12046117-?); (p-value= 0.000001).This variant is associated with Juvenile idiopathic arthritis.- Related Diseases:
- Arthritis
- Evidence:
-
PMID:19116933
http://www.genome.gov/gwastudies/
Variant names are different names that have been used in the literature and other resources to
refer to the same variant.
Non-curated variant information is accumulated solely by computational methods and has not
been verified by the scientific staff at PharmGKB.
Non-Curated Information
A list of non-curated publications that mention this gene along with other diseases is available.
LinkOuts
- Ref Seq NP Accession:
- AAH65717
- AAH74729
- AAP37283
- AAQ24206
- AAQ88718
- AAS13400
- AAZ17406
- ABI16083
- BAB15349
- BAH13967
- CAI12737
- CAI12739
- EAW56671
- EAW56672
- EAW56673
- NP_078902
- Q5T2L0
- Q6P097
- Q7Z7D3
- Ref Seq NT Accession:
- AC_000044
- AC_000133
- NC_000001
- NT_019273
- NW_001838594
- NW_922462
- UniProtKB Accesssion:
- VTCN1_HUMAN (Q7Z7D3)
- Ensembl ID:
- ENSG00000134258
- ALFRED ID:
- LO009523T
- HuGE ID:
- VTCN1
- Comparative Toxicogenomics Acc ID:
- 79679
- ModBase:
- Q7Z7D3