Property Summary

NCBI Gene PubMed Count 5
PubMed Score 2.10
PubTator Score 1.36

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
atypical teratoid / rhabdoid tumor -1.200 0.000
medulloblastoma, large-cell -1.100 0.000
Pick disease -1.100 0.000
ovarian cancer 1.700 0.000

Gene RIF (1)

PMID Text
25122211 Mass spectrometry analysis identified protein RGD1311164 (C12orf4), with no previously described function. Our data demonstrate that RGD1311164 is a cytoplasmic protein implicated in the early signaling events following FcepsilonRI-induced cell activation

AA Sequence

MKKNRERFCNREREFVYKFKVGSQCLELRVPLKFPVQENASHLHGRLMLLHSLPCFIEKDLKEALTQFIE      1 - 70
EESLSDYDRDAEASLAAVKSGEVDLHQLASTWAKAYAETTLEHARPEEPSWDEDFADVYHDLIHSPASET     71 - 140
LLNLEHNYFVSISELIGERDVELKKLRERQGIEMEKVMQELGKSLTDQDVNSLAAQHFESQQDLENKWSN    141 - 210
ELKQSTAIQKQEYQEWVIKLHQDLKNPNNSSLSEEIKVQPSQFRESVEAIGRIYEEQRKLEESFTIHLGA    211 - 280
QLKTMHNLRLLRADMLDFCKHKRNHRSGVKLHRLQTALSLYSTSLCGLVLLVDNRINSYSGIKRDFATVC    281 - 350
QECTDFHFPRIEEQLEVVQQVVLYARTQRRSKLKESLDSGNQNGGNDDKTKNAERNYLNVLPGEFYITRH    351 - 420
SNLSEIHVAFHLCVDDHVKSGNITARDPAIMGLRNILKVCCTHDITTISIPLLLVHDMSEEMTIPWCLRR    421 - 490
AELVFKCVKGFMMEMASWDGGISRTVQFLVPQSISEEMFYQLSNMLPQIFRVSSTLTLTSKH            491 - 552
//

Text Mined References (7)

PMID Year Title
27311568 2016 Identification of C12orf4 as a gene for autosomal recessive intellectual disability.
25122211 2014 In-cell intrabody selection from a diverse human library identifies C12orf4 protein as a new player in rodent mast cell degranulation.
20558539 2010 Common genetic variants associate with serum phosphorus concentration.
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).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11062477 2000 Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.