Property Summary

NCBI Gene PubMed Count 4
PubMed Score 1.50
PubTator Score 8.00

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
osteosarcoma 1.106 2.7e-07
atypical teratoid / rhabdoid tumor -1.100 5.3e-05
medulloblastoma -1.200 3.9e-03
medulloblastoma, large-cell -2.100 1.7e-04
pancreatic ductal adenocarcinoma liver m... -1.400 2.5e-03
posterior fossa group B ependymoma 1.100 4.0e-05

Synonym

Accession Q9BTD3
Symbols hole

Gene

  Ortholog (1)

Species Source Disease
Macaque OMA EggNOG Inparanoid

Gene RIF (2)

PMID Text
20714865 There is an insertion-deletion (GCC/-) of SNP rs10569304 in the Southern Chinese people. People with the BB genotype are at greater risk of congenital heart disease.
20714865 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MVLPPPDRRHVCLTTLVIMGSMAVMDAYLVEQNQGPRKIGVCIIVLVGDVCFLLVLRYVAVWVGAEVRTA      1 - 70
KRGYAMILWFLYIFVLEIKLYFIFQNYKAARRGAADPVARKALTLLLSVCVPGLFLLLVALDRMEYVRTF     71 - 140
RKREDLRGRLFWVALDLLDLLDMQASLWEPPRSGLPLWAEGLTFFYCYMLLLVLPCVALSEVSMQGEHIA    141 - 210
PQKMMLYPVLSLATVNVVAVLARAANMALFRDSRVSAIFVGKNVVALATKACTFLEYRRQVRDFPPPALS    211 - 280
LELQPPPPQRNSVPPPPPPLHGPPGRPHMSSPTRDPLDT                                   281 - 319
//

Text Mined References (5)

PMID Year Title
20714865 2010 Association between SNP rs10569304 on the second expressed region of hole gene and the congenital heart disease.
15950185 2005 A novel six-transmembrane protein hhole functions as a suppressor in MAPK signaling pathways.
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.
12204283 2002 Hole is a novel gene product expressed in the developing heart and brain.