Property Summary

NCBI Gene PubMed Count 8
PubMed Score 0.22

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count
Juvenile arthritis 124
Disease Target Count P-value
ovarian cancer 8492 8.3560655756674E-7
Pick disease 1893 1.30313485475769E-5
medulloblastoma, large-cell 6234 5.4252063724767E-4
osteosarcoma 7933 0.00211951310397485
aldosterone-producing adenoma 664 0.0163027918419911
spina bifida 1064 0.0378091349167193
Disease Target Count Z-score Confidence
Liver disease 219 0.0 2.0

Expression

  Differential Expression (6)

Disease log2 FC p
osteosarcoma -1.115 0.002
medulloblastoma, large-cell -1.500 0.001
aldosterone-producing adenoma -1.104 0.016
spina bifida -1.208 0.038
Pick disease 1.100 0.000
ovarian cancer -1.600 0.000

Synonym

Accession Q9BSE4 A4D1Y8 Q9H6F9
Symbols

Gene

PDB

2KDB  

  Ortholog (10)

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

Gene RIF (1)

PMID Text
19240061 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MDQSGMEIPVTLIIKAPNQKYSDQTISCFLNWTVGKLKTHLSNVYPSKPLTKDQRLVYSGRLLPDHLQLK      1 - 70
DILRKQDEYHMVHLVCTSRTPPSSPKSSTNRESHEALASSSNSSSDHSGSTTPSSGQETLSLAVGSSSEG     71 - 140
LRQRTLPQAQTDQAQSHQFPYVMQGNVDNQFPGQAAPPGFPVYPAFSPLQMLWWQQMYAHQYYMQYQAAV    141 - 210
SAQATSNVNPTQPTTSQPLNLAHVPGEEPPPAPNLVAQENRPMNENVQMNAQGGPVLNEEDFNRDWLDWM    211 - 280
YTFSRAAILLSIVYFYSSFSRFIMVMGAMLLVYLHQAGWFPFRQEGGHQQAPNNNAEVNNDGQNANNLEL    281 - 350
EEMERLMDDGLEDESGEDGGEDASAIQRPGLMASAWSFITTFFTSLIPEGPPQVAN                  351 - 406
//

Text Mined References (10)

PMID Year Title
24684796 2014 Heritability and genetic association analysis of cognition in the Diabetes Heart Study.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
19240061 2009 Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
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.
12853948 2003 The DNA sequence of human chromosome 7.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.