Property Summary

NCBI Gene PubMed Count 19
PubMed Score 12.02
PubTator Score 11.08

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Disease log2 FC p
interstitial lung disease -1.700 3.9e-02
ependymoma 1.600 2.1e-03
oligodendroglioma 1.500 1.7e-03
cystic fibrosis 2.838 3.8e-06
atypical teratoid/rhabdoid tumor -1.400 1.1e-06
medulloblastoma, large-cell -1.800 8.9e-05
tuberculosis -1.500 2.4e-06
non-small cell lung cancer -1.951 2.3e-16
intraductal papillary-mucinous adenoma (... 1.700 1.0e-02
intraductal papillary-mucinous carcinoma... 1.700 4.1e-02
lung adenocarcinoma -1.300 1.0e-06
group 3 medulloblastoma -1.200 1.2e-02
pilocytic astrocytoma -1.200 1.0e-04
subependymal giant cell astrocytoma -1.324 4.7e-02
pituitary cancer -1.700 9.2e-05

Synonym

Accession Q96KS9 A8K3T9 Q3SXY1 Q3SXY3 Q8N3M3 Q9NSR0
Symbols D8S265
C8orf13

Gene

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

Pathway (1)

Gene RIF (17)

PMID Text
25846585 the FAM167A-BLK polymorphisms were associated with Chinese PM/DM patients or these patients with ILD, indicating that PM/DM might share common gene with other autoimmune diseases.
25470816 Results support previous findings that vaiants in the RHOB and FAM167A-BLK genes may be associated with susceptibility to systemic sclerosis.
24632671 The observations suggested that C8orf13-BLK, in combination with STAT4, plays a pivotal role in creating genetic susceptibility to polymyositis/dermatomyositis in Japanese individuals.
23899688 SNPs of the FAM167A-BLK region, but not the BANK1 SNPs, were associated with the development of primary Sjogren's syndrome in Han Chinese.
23635951 Strong correlations have been observed between TNFSF4, TNFAIP3 and FAM167A-BLK polymorphisms with primary Sjogren's syndrome in Han Chinese.[FAM167A-BLK]
21480188 These results confirm C8orf13-BLK as a systemic sclerosis risk locus
20861858 EBF1, BLK and TNFSF4 are all involved in B-cell differentiation and activation, and we conclude that polymorphisms in several susceptibility genes in the immune system contribute to the pathogenesis of primary SS.
20861858 Observational study of gene-disease association. (HuGE Navigator)
20848568 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20156505 Observational study of gene-disease association. (HuGE Navigator)
20131239 Our findings indicate that the rs13277113A allele is associated not only with SLE but also with SSc and that the FAM167A-BLK region is a common genetic risk factor for both SLE and SSc.
19740902 Results indicate the FAM167A-BLK region may be a shared genetic factor for a number of autoimmune diseases in multiple populations, but the genetic contribution may be grater in Asian populations.
19740902 Observational study of gene-disease association. (HuGE Navigator)
19180478 Observational study of gene-disease association. (HuGE Navigator)
19110536 Observational study of gene-disease association. (HuGE Navigator)
18204098 identified and confirmed through replication two new genetic loci for SLE: a promoter-region allele associated with reduced expression of BLK and increased expression of C8orf13 and variants in the ITGAM-ITGAX region

AA Sequence

MSVPQIHVEEVGAEEGAGAAAPPDDHLRSLKALTEKLRLETRRPSYLEWQARLEEHTWPFPRPAAEPQAS      1 - 70
LEEGERGGQEPLLPLREAGQHPPSARSASQGARPLSTGKLEGFQSIDEAIAWLRKELTEMRLQDQQLARQ     71 - 140
LMRLRGDINKLKIEHTCRLHRRMLNDATYELEERDELADLFCDSPLASSFSLSTPLKLIGVTKMNINSRR    141 - 210
FSLC                                                                      211 - 214
//

Text Mined References (22)

PMID Year Title
25846585 2015 Single nucleotide polymorphisms in the FAM167A-BLK gene are associated with polymyositis/dermatomyositis in the Han Chinese population.
25470816 2014 Possible single-nucleotide polymorphism loci associated with systemic sclerosis susceptibility: a genetic association study in a Chinese Han population.
25416956 2014 A proteome-scale map of the human interactome network.
24632671 2014 Association between a C8orf13-BLK polymorphism and polymyositis/dermatomyositis in the Japanese population: an additive effect with STAT4 on disease susceptibility.
23899688 Polymorphisms in the FAM167A-BLK, but not BANK1, are associated with primary Sjögren's syndrome in a Han Chinese population.
23635951 2013 Association studies of TNFSF4, TNFAIP3 and FAM167A-BLK polymorphisms with primary Sjogren's syndrome in Han Chinese.
22446962 2012 A genome-wide association study identifies three new risk loci for Kawasaki disease.
21480188 2011 C8orf13-BLK is a genetic risk locus for systemic sclerosis and has additive effects with BANK1: results from a large french cohort and meta-analysis.
20861858 2011 Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome.
20848568 2010 Genetically determined Amerindian ancestry correlates with increased frequency of risk alleles for systemic lupus erythematosus.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20156505 2010 Role of the C8orf13-BLK region in biopsy-proven giant cell arteritis.
20131239 2010 Association of the FAM167A-BLK region with systemic sclerosis.
19740902 2010 Replication of association between FAM167A(C8orf13)-BLK region and rheumatoid arthritis in a Japanese population.
19180478 2009 Replication of the association between the C8orf13-BLK region and systemic lupus erythematosus in a Japanese population.
19110536 2009 Analysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locus.
18204098 2008 Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11896452 2002 Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759.