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IFT80 Gene

protein-coding   GIFtS: 52
GCID: GC03M159974

Intraflagellar Transport 80 Homolog (Chlamydomonas)

(Previous name: WD repeat domain 56)
(Previous symbol: WDR56)
  See IFT80-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Intraflagellar Transport 80 Homolog (Chlamydomonas)1 2     ATD22 5
WDR561 2 3 5     SRTD22 5
WD Repeat Domain 561 2     KIAA13743 5
WD Repeat-Containing Protein 562 3     Intraflagellar Transport Protein 80 Homolog2

External Ids:    HGNC: 292621   Entrez Gene: 575602   Ensembl: ENSG000000688857   OMIM: 6111775   UniProtKB: Q9P2H33   
ORGUL members:         

Export aliases for IFT80 gene to outside databases

Previous GC identifers: GC03M161459 GC03M159945 GC03M157373


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for IFT80 Gene:
The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the
function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2
(ATD2). Three transcript variants encoding two different isoforms have been found for this gene.(provided by
RefSeq, Jun 2010)

GeneCards Summary for IFT80 Gene:
IFT80 (intraflagellar transport 80 homolog (Chlamydomonas)) is a protein-coding gene. Diseases associated with IFT80 include aspiration pneumonitis, and short-rib thoracic dysplasia 2 with or without polydactyly. An important paralog of this gene is ENSG00000248710.

UniProtKB/Swiss-Prot: IFT80_HUMAN, Q9P2H3
Function: Component of the intraflagellar transport (IFT) complex B, which is essential for the development and
maintenance of motile and sensory cilia

Gene Wiki entry for IFT80 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the IFT80 gene promoter:
         E2F-4   E2F-3a   E2F-5   Sp1   HTF   Lmo2   E2F-2   E2F   E2F-1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIFT80 promoter sequence
   Search Chromatin IP Primers for IFT80

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IFT80


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q25.33   Ensembl cytogenetic band:  3q25.33   HGNC cytogenetic band: 3q25.33

IFT80 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IFT80 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M159974:  view genomic region     (about GC identifiers)

Start:
159,974,774 bp from pter      End:
160,117,668 bp from pter
Size:
142,895 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: IFT80_HUMAN, Q9P2H3 (See protein sequence)
Recommended Name: Intraflagellar transport protein 80 homolog  
Size: 777 amino acids; 88035 Da
Secondary accessions: B4E0K1 C9J8I0 Q3MJC4 Q86YF4 Q9UIX1
Alternative splicing: 2 isoforms:  Q9P2H3-1   Q9P2H3-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for IFT80: NX_Q9P2H3

Explore proteomics data for IFT80 at MOPED


See IFT80 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (3 alternative transcripts): 
NP_001177170.1  NP_001177171.1  NP_065851.1  

ENSEMBL proteins: 
 ENSP00000312778   ENSP00000418196   ENSP00000420646   ENSP00000417552   ENSP00000420401  
 ENSP00000420260   ENSP00000418602   ENSP00000419458   ENSP00000420001   ENSP00000417057  
 ENSP00000417861   ENSP00000420758   ENSP00000418497   ENSP00000418455   ENSP00000419468  

IFT80 Human Recombinant Protein Products:

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Cloud-Clone Corp. Proteins for IFT80

 
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antibodies-online proteins for IFT80 (4 products) 

 
antibodies-online peptides for IFT80

IFT80 Antibody Products:

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antibodies-online antibodies for IFT80 (16 products) 

IFT80 Assay Products:

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antibodies-online kits for IFT80 (6 products) 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
IFT: Intraflagellar transport homologs
WDR: WD repeat domain containing

3 InterPro protein domains:
 IPR001680 WD40_repeat
 IPR017986 WD40_repeat_dom
 IPR015943 WD40/YVTN_repeat-like_dom

Graphical View of Domain Structure for InterPro Entry Q9P2H3

ProtoNet protein and cluster: Q9P2H3

UniProtKB/Swiss-Prot: IFT80_HUMAN, Q9P2H3
Similarity: Contains 7 WD repeats


Find genes that share domains with IFT80           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: IFT80_HUMAN, Q9P2H3
Function: Component of the intraflagellar transport (IFT) complex B, which is essential for the development and
maintenance of motile and sensory cilia

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
Find genes that share ontologies with IFT80           About GenesLikeMe


Phenotypes:
     1 GenomeRNAi human phenotype for IFT80:
 Synthetic lethal with Ras 

     8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ift80):
 craniofacial  growth/size/body  immune system  limbs/digits/tail  mortality/aging 
 renal/urinary system  skeleton  vision/eye 

Find genes that share phenotypes with IFT80           About GenesLikeMe

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for IFT80

miRNA
Products:
    
miRTarBase miRNAs that target IFT80:
hsa-mir-375 (MIRT019786)

Block miRNA regulation of human, mouse, rat IFT80 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate IFT80 (see all 10):
hsa-miR-3671 hsa-miR-548am hsa-miR-4263 hsa-miR-548e hsa-miR-513c hsa-miR-944 hsa-miR-548a-3p hsa-miR-548x
SwitchGear 3'UTR luciferase reporter plasmidIFT80 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for IFT80
Predesigned siRNA for gene silencing in human, mouse, rat IFT80

Gene Editing
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DNA2.0 Custom Protein Engineering Service for IFT80

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OriGene clones in human, mouse for IFT80 (see all 9)
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OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 3): IFT80 (NM_020800)
Sino Biological Human cDNA Clone for IFT80
DNA2.0 Custom Codon Optimized Gene Synthesis Service for IFT80
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IFT80

Cell Line
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GenScript Custom overexpressing Cell Line Services for IFT80
Browse ESI BIO Cell Lines and PureStem Progenitors for IFT80 
In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFT80


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
IFT80_HUMAN, Q9P2H3: Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body (By similarity). Cytoplasm,
cytoskeleton, cilium axoneme (By similarity). Note=Basal body and ciliary axoneme (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol3
cytoskeleton2
mitochondrion1
nucleus1

Gene Ontology (GO): 3 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm IEA--
GO:0005813centrosome IEA--
GO:0005929cilium IEA--

Find genes that share ontologies with IFT80           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Pathway & Disease-focused RT2 Profiler PCR Array including IFT80: 
          Primary Cilia in human mouse rat

Interactions:

    Search GeneGlobe Interaction Network for IFT80

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for IFT80 (Q9P2H33 ENSP000003127784) via UniProtKB, MINT, STRING, and/or I2D (see all 63)
InteractantInteraction Details
GeneCardExternal ID(s)
PLXNA2O750513, ENSP000003560004I2D: score=2 STRING: ENSP00000356000
KPNB1ENSP000002901584STRING: ENSP00000290158
PLXNB3ENSP000003553784STRING: ENSP00000355378
ACTR8ENSP000003368424STRING: ENSP00000336842
CDC73ENSP000003564054STRING: ENSP00000356405
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Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001649osteoblast differentiation IEA--
GO:0002062chondrocyte differentiation IEA--
GO:0007224smoothened signaling pathway IEA--
GO:0042384cilium assembly IEA--
GO:0045880positive regulation of smoothened signaling pathway IEA--

Find genes that share ontologies with IFT80           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for IFT80



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for IFT80 gene (3 alternative transcripts): 
NM_001190241.1  NM_001190242.1  NM_020800.2  

Unigene Cluster for IFT80:

Intraflagellar transport 80 homolog (Chlamydomonas)
Hs.478095  [show with all ESTs]
Unigene Representative Sequence: NM_001190241
Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27):
ENST00000326448(uc021xgq.1 uc003fde.2 uc003fdd.2 uc021xgr.1)
ENST00000483465(uc003fdb.2) ENST00000496589 ENST00000487943 ENST00000478278
ENST00000463240 ENST00000483325 ENST00000472555 ENST00000461213 ENST00000478460
ENST00000484963 ENST00000465537 ENST00000472773 ENST00000475677 ENST00000498409
ENST00000468218 ENST00000486856 ENST00000478370
miRNA
Products:
     
Block miRNA regulation of human, mouse, rat IFT80 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate IFT80 (see all 10):
hsa-miR-3671 hsa-miR-548am hsa-miR-4263 hsa-miR-548e hsa-miR-513c hsa-miR-944 hsa-miR-548a-3p hsa-miR-548x
SwitchGear 3'UTR luciferase reporter plasmidIFT80 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for IFT80
Predesigned siRNA for gene silencing in human, mouse, rat IFT80
Clone
Products:
     
OriGene clones in human, mouse for IFT80 (see all 9)
OriGene ORF clones in mouse, rat for IFT80
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 3): IFT80 (NM_020800)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for IFT80
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IFT80
Primer
Products:
    
OriGene qSTAR qPCR primer pairs in human, mouse for IFT80
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat IFT80
  QuantiTect SYBR Green Assays in human, mouse, rat IFT80
  QuantiFast Probe-based Assays in human, mouse, rat IFT80

Additional mRNA sequence: 

AB037795.1 AK055904.1 AK125342.1 AK303410.1 AL133045.1 BC030774.1 BC042027.1 BC101494.1 
BC113669.1 

17 DOTS entries:

DT.214187  DT.100791858  DT.95155555  DT.99955215  DT.100771030  DT.120858496  DT.100791857  DT.100828681 
DT.436095  DT.100791861  DT.120858482  DT.120858553  DT.100709209  DT.120858514  DT.92427647  DT.95152048 
DT.70101144 

Selected AceView cDNA sequences (see all 242):

AI979187 BM461402 BC030774 AW129743 NM_020800 AI249914 AA262622 AL601983 
AI478134 AA856870 D16989 NM_173084 BX095564 AI033851 AA699513 AA629865 
BM798909 CA397010 AI912920 BE221745 AI215011 AA935907 BX496497 AV709486 

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for IFT80    About this scheme

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b
SP1:              -                                                                                                                     
SP2:                                                                                                                                    


ECgene alternative splicing isoforms for IFT80

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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IFT80 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TTTCTTTTCT
IFT80 Expression
About this image

IFT80 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

IFT80 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.478095
    Pathway & Disease-focused RT2 Profiler PCR Array including IFT80: 
          Primary Cilia in human mouse rat

Primer
Products:
OriGene qSTAR qPCR primer pairs in human, mouse for IFT80
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat IFT80
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFT80

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for IFT80 gene from Selected species (see all 16)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Ift801 , 5 intraflagellar transport 80 homolog (Chlamydomonas)5
intraflagellar transport 801
88.23(n)1
94.72(a)1
  3 (32.07 cM)5
682591  NM_026641.21  NP_080917.11 
 688924995 
chicken
(Gallus gallus)
Aves IFT801 intraflagellar transport 80 homolog (Chlamydomonas) 80.1(n)
85.56(a)
  425014  XM_422817.4  XP_422817.3 
lizard
(Anolis carolinensis)
Reptilia --
--
84(a)
1 → many
3(13046159-13137950)
African clawed frog
(Xenopus laevis)
Amphibia kiaa1374-A-prov2 conserved hypothetical protein 77.28(n)    AF549903.1 
zebrafish
(Danio rerio)
Actinopterygii wufj11a062 Transcribed sequence with weak similarity to protein more 75.35(n)    BG303007.1 
fruit fly
(Drosophila melanogaster)
Insecta Oseg51 Oseg5 48.04(n)
37.57(a)
  35349  NM_136220.2  NP_610064.2 
worm
(Caenorhabditis elegans)
Secernentea che-21 che-2 52.07(n)
41.27(a)
  180401  NM_075705.5  NP_508106.1 


ENSEMBL Gene Tree for IFT80 (if available)
TreeFam Gene Tree for IFT80 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for IFT80 gene
ENSG000002487102  
5 SIMAP similar genes for IFT80 using alignment to 13 protein entries:     IFT80_HUMAN (see all proteins):
DKFZp686N1030    TRIM59    ANKIB1    TRIM13    TRIM26

Find genes that share paralogs with IFT80           About GenesLikeMe


2 Pseudogenes.org Pseudogenes for IFT80
PGOHUM00000246788 PGOHUM00000246789


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for IFT80 (see all 2363)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 3 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0350094
Asphyxiating thoracic dystrophy 2 (ATD2)4--see VAR_0350092 A P mis40--------
VAR_0350064
Asphyxiating thoracic dystrophy 2 (ATD2)4--see VAR_0350062 H Q mis40--------
rs788055101,2
C,F--157378102(+) AGGCAC/TGGTGG 3 -- int13Minor allele frequency- T:0.38NA 8
rs595791801,2
C--157396116(+) TTTCCCT/-GAGGC 3 -- int12Minor allele frequency- -:0.00CSA 4
rs348498241,2
C--157396118(+) TTCCG-/CTAGGCT 3 -- int10--------
rs1913633101,2
--157429175(+) ATATAG/TATAAT 3 -- int10--------
rs1836137981,2
--157429260(+) ATATAA/TAAATG 3 -- int10--------
rs720179041,2
C--157429334(+) TATAT-/ATAATAAA 3 -- int10--------
rs1874819101,2
--157429343(+) TAAATA/GTATAT 3 -- int10--------
rs1907950341,2
--157429378(+) TAAATA/GTATAT 3 -- int10--------

HapMap Linkage Disequilibrium report for IFT80 (159974774 - 160117668 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for IFT80:    About this table    
Variant IDTypeSubtypePubMed ID
nsv822305CNV Gain20364138
nsv877699CNV Gain21882294

Human Gene Mutation Database (HGMD): IFT80
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing IFT80
DNA2.0 Custom Variant and Variant Library Synthesis for IFT80

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 611177   
OMIM disorders: 611263  
UniProtKB/Swiss-Prot: IFT80_HUMAN, Q9P2H3
  • Asphyxiating thoracic dystrophy 2 (ATD2) [MIM:611263]: An autosomal recessive chondrodysplasia
    characterized by a severely constricted thoracic cage, short-limbed short stature, and polydactyly. It often
    leads to death in infancy because of respiratory insufficiency. Retinal degeneration, cystic renal disease and
    hepatic disease can be present in affected individuals who survive early childhood. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 7 diseases for IFT80:    
    About MalaCards
    aspiration pneumonitis    short-rib thoracic dysplasia 2 with or without polydactyly    asphyxiating thoracic dystrophy 2    asphyxiating thoracic dystrophy
    sensenbrenner syndrome    short-rib thoracic dysplasia 11 with or without polydactyly    alzheimer's disease

    4 diseases from the University of Copenhagen DISEASES database for IFT80:
    Asphyxiating thoracic dystrophy     Polydactyly     Sensenbrenner syndrome     Aspiration pneumonitis

    Find genes that share disorders with IFT80           About GenesLikeMe


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    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for IFT80 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with IFT80)
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    1. 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. (PubMed id 10718198)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2000)
    2. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. (PubMed id 17468754)1, 2 Beales P.L.... Scambler P.J. (Nat. Genet. 2007)
    3. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)1, 2 Muzny D.M....Gibbs R.A. (Nature 2006)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    6. Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. (PubMed id 19648123)1 Cavalcanti D.P....Cormier-Daire V. (J. Med. Genet. 2011)
    7. Identification and characterization of a long isoform of human IFT80, IFT80-L. (PubMed id 18601909)1 Huang W....Li M.D. (Biochem. Biophys. Res. Commun. 2008)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs. (PubMed id 12421765)1 Nakayama M.... Ohara O. (Genome Res. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 57560 HGNC: 29262 AceView: KIAA1374andTRIM59 Ensembl:ENSG00000068885 euGenes: HUgn57560
    ECgene: IFT80 H-InvDB: IFT80

    (According to HUGE)
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    HUGE: KIAA1374

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for IFT80 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for IFT80 gene:
    Search GeneIP for patents involving IFT80

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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