Property Summary

NCBI Gene PubMed Count 17
PubMed Score 24.94
PubTator Score 21.81

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count
Ectrodactyly 6
Disease Target Count P-value
adult high grade glioma 2148 8.6286558017247E-5
medulloblastoma, large-cell 6234 8.04487266861613E-4
osteosarcoma 7933 0.00169578768441924
Disease Target Count
Split-hand/foot malformation 3 1

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma -1.059 0.002
medulloblastoma, large-cell -1.100 0.001
adult high grade glioma -1.100 0.000

Synonym

Accession P57775 Q5SVS1 Q96IM6
Symbols DAC
FBW4
FBWD4
SHFM3
SHSF3

Gene

  Ortholog (9)

Species Source
Mouse OMA Inparanoid
Rat OMA Inparanoid
Dog OMA Inparanoid
Horse OMA Inparanoid
Cow OMA Inparanoid
Pig OMA Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA Inparanoid
Zebrafish OMA Inparanoid

Gene RIF (4)

PMID Text
23658844 biochemical characterization of the novel F-box and WD40 containing protein, FBXW4
16761290 Genomic rearrangements involving the SHFM3 locus at chromosome 10q24 is associated with syndromic and non-syndromic split-hand/foot malformation
16235095 results indicate that genomic rearrangement of SHFM3 is rare among non-syndromic SHFM patients and emphasize the importance of screening for genomic rearrangements even in sporadic cases of SHFM
12913067 a complex rearrangement associated with a approximately 0.5 Mb tandem duplication ion containing a disrupted extra copy of the DACTYLIN gene and the entire LBX1 and beta-TRCP genes.

AA Sequence

MAAAAGEEEEEEEAARESAARPAAGPALWRLPEELLLLICSYLDMRALGRLAQVCRWLRRFTSCDLLWRR      1 - 70
IARASLNSGFTRLGTDLMTSVPVKERVKVSQNWRLGRCREGILLKWRCSQMPWMQLEDDSLYISQANFIL     71 - 140
AYQFRPDGASLNRRPLGVFAGHDEDVCHFVLANSHIVSAGGDGKIGIHKIHSTFTVKYSAHEQEVNCVDC    141 - 210
KGGIIVSGSRDRTAKVWPLASGRLGQCLHTIQTEDRVWSIAISPLLSSFVTGTACCGHFSPLRIWDLNSG    211 - 280
QLMTHLGSDFPPGAGVLDVMYESPFTLLSCGYDTYVRYWDLRTSVRKCVMEWEEPHDSTLYCLQTDGNHL    281 - 350
LATGSSYYGVVRLWDRRQRACLHAFPLTSTPLSSPVYCLRLTTKHLYAALSYNLHVLDFQNP            351 - 412
//

Text Mined References (17)

PMID Year Title
23658844 2013 The novel ubiquitin ligase complex, SCF(Fbxw4), interacts with the COP9 signalosome in an F-box dependent manner, is mutated, lost and under-expressed in human cancers.
22632967 2012 Cyclin F-mediated degradation of ribonucleotide reductase M2 controls genome integrity and DNA repair.
16761290 2006 Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.
16235095 2005 Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15232212 2004 Molecular genetic characterization of a Korean split hand/split foot malformation (SHFM).
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14699611 2004 The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype.
14603323 2003 Degradation of Cdc25A by beta-TrCP during S phase and in response to DNA damage.
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