Property Summary

NCBI Gene PubMed Count 5
PubMed Score 2.10
PubTator Score 1.36

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count
Poor school performance 13
Disease Target Count P-value
Pick disease 1893 2.46893087093736E-5
ovarian cancer 8492 6.93120552779622E-5
atypical teratoid / rhabdoid tumor 4369 8.39541726584152E-5
medulloblastoma, large-cell 6234 1.68093705593796E-4
Disease Target Count Z-score Confidence
Distal arthrogryposis 45 4.112 2.1

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

Synonym

Accession Q9NQ89 D3DUQ8 Q6MZH5
Symbols

Gene

  Ortholog (13)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Dog OMA EggNOG
Cow EggNOG Inparanoid
Pig OMA EggNOG Inparanoid
Opossum OMA EggNOG
Chicken OMA EggNOG Inparanoid
Anole lizard OMA EggNOG
Xenopus OMA EggNOG Inparanoid
C. elegans EggNOG Inparanoid
Fruitfly EggNOG Inparanoid

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.