Property Summary

NCBI Gene PubMed Count 9
Grant Count 2
R01 Count 2
Funding $79,614.5
PubMed Score 11.50
PubTator Score 10.01

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
osteosarcoma 1.074 0.005
medulloblastoma, large-cell -1.700 0.002
Breast cancer 2.500 0.026
group 4 medulloblastoma -1.100 0.025
Pick disease -2.000 0.000
progressive supranuclear palsy -2.000 0.009
ovarian cancer -1.500 0.000
chronic rhinosinusitis -1.177 0.038

Synonym

Accession Q9P2H3 B4E0K1 C9J8I0 Q3MJC4 Q86YF4 Q9UIX1
Symbols ATD2
SRTD2
WDR56

Gene

 Grant Application (2)

Gene RIF (3)

PMID Text
19648123 Mutations in IFT80 can be responsible for a lethal form of short-rib polydactyly and provide the molecular basis for the Jeune-Verma-Naumoff dysplasia spectrum.
18601909 Identification and characterization of a human IFT80 long isoform (namely IFT80-L), the carboxyl terminus of which shares the protein sequence of IFT80, is reported.
17468754 Mutations in IFT80 is associated with Jeune asphyxiating thoracic dystrophy

AA Sequence

MRLKISLLKEPKHQELVSCVGWTTAEELYSCSDDHQIVKWNLLTSETTQIVKLPDDIYPIDFHWFPKSLG      1 - 70
VKKQTQAESFVLTSSDGKFHLISKLGRVEKSVEAHCGAVLAGRWNYEGTALVTVGEDGQIKIWSKTGMLR     71 - 140
STLAQQGTPVYSVAWGPDSEKVLYTAGKQLIIKPLQPNAKVLQWKAHDGIILKVDWNSVNDLILSAGEDC    141 - 210
KYKVWDSYGRPLYNSQPHEHPITSVAWAPDGELFAVGSFHTLRLCDKTGWSYALEKPNTGSIFNIAWSID    211 - 280
GTQIAGACGNGHVVFAHVVEQHWEWKNFQVTLTKRRAMQVRNVLNDAVDLLEFRDRVIKASLNYAHLVVS    281 - 350
TSLQCYVFSTKNWNTPIIFDLKEGTVSLILQAERHFLLVDGSSIYLYSYEGRFISSPKFPGMRTDILNAQ    351 - 420
TVSLSNDTIAIRDKADEKIIFLFEASTGKPLGDGKFLSHKNEILEIALDQKGLTNDRKIAFIDKNRDLCI    421 - 490
TSVKRFGKEEQIIKLGTMVHTLAWNDTCNILCGLQDTRFIVWYYPNTVYVDRDILPKTLYERDASEFSKN    491 - 560
PHIVSFVGNQVTIRRADGSLVHISITPYPAILHEYVSSSKWEDAVRLCRFVKEQTMWACLAAMAVANRDM    561 - 630
TTAEIAYAAIGEIDKVQYINSIKNLPSKESKMAHILLFSGNIQEAEIVLLQAGLVYQAIQININLYNWER    631 - 700
ALELAVKYKTHVDTVLAYRQKFLETFGKQETNKRYLHYAEGLQIDWEKIKAKIEMEITKEREQSSSSQSS    701 - 770
KSIGLKP                                                                   771 - 777
//

Text Mined References (10)

PMID Year Title
19648123 2011 Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.
18601909 2008 Identification and characterization of a long isoform of human IFT80, IFT80-L.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17468754 2007 IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
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.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12421765 2002 Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs.
10718198 2000 Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.