Property Summary

NCBI Gene PubMed Count 19
PubMed Score 12.02
PubTator Score 11.08

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (2)

Disease Target Count P-value
non-small cell lung cancer 2798 2.31294307143888E-16
lung adenocarcinoma 2714 1.0141962268338E-6
atypical teratoid/rhabdoid tumor 1095 1.09615493695729E-6
tuberculosis 1563 2.39622994264394E-6
cystic fibrosis 1670 3.81301209002633E-6
medulloblastoma, large-cell 6234 8.85713639299322E-5
pituitary cancer 1972 9.22120563038768E-5
pilocytic astrocytoma 3086 1.01202567017216E-4
oligodendroglioma 2849 0.00173789396914875
ependymoma 2514 0.00212382878039936
intraductal papillary-mucinous adenoma (IPMA) 2956 0.0100526669090568
group 3 medulloblastoma 2254 0.0120167718206737
interstitial lung disease 292 0.0386312415054483
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.0405662677070536
subependymal giant cell astrocytoma 2287 0.047338281070306

Expression

Synonym

Accession Q96KS9 A8K3T9 Q3SXY1 Q3SXY3 Q8N3M3 Q9NSR0
Symbols D8S265
C8orf13

Gene

  Ortholog (8)

Species Source
Chimp OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG

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)
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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.
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