IFT140 Gene
protein-coding GIFtS: 49
GCID: GC16M001560
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intraflagellar transport 140 homolog (Chlamydomonas)(Previous name: WD and tetratricopeptide repeats 2 ) (Previous symbol: WDTC2)
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Aliases for IFT140 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Intraflagellar Transport 140 Homolog (Chlamydomonas)1 2 | | WD And Tetratricopeptide Repeats 21 | | WDTC21 2 3 | | MZSDS2 | | Gs1141 | | C305C8.41 | | KIAA05901 3 | | C380F5.11 | | WD And Tetratricopeptide Repeats Protein 22 3 | | Intraflagellar Transport Protein 140 Homolog2 |
Export aliases for IFT140 gene to outside databasesPrevious GC identifers: GC16M001503 GC16M001488 |
Summaries for IFT140 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for IFT140: This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport isinvolved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensoryorganelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as theflow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouseresults in renal cystic disease. (provided by RefSeq, Jun 2012) UniProtKB/Swiss-Prot: IF140_HUMAN, Q96RY7Function: Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Plays a pivotalrole in proper development and function of ciliated cells. Involved in ciliogenesis and cilia maintenance
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Genomic Views for IFT140 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000016.9 NC_018927.1 NT_010393.16
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the IFT140 gene promoter: AhR HOXA9 HOXA9B Pax-5 p300 Arnt Meis-1b AREB6 Meis-1 Other transcription factors
Search SABiosciences Chromatin IP Primers for IFT140
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IFT140 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 16p13.3 Ensembl cytogenetic band: 16p13.3 HGNC cytogenetic band: 16p13.3IFT140 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 16 GeneLoc Exon Structure GeneLoc location for GC16M001560: view genomic region
(about GC identifiers)
Start:
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1,560,428 bp from pter |
End:
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1,662,111 bp from pter |
Size:
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101,684 bases |
Orientation:
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minus strand |
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Proteins for IFT140 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: IF140_HUMAN, Q96RY7 (See
protein sequence)Recommended Name: Intraflagellar transport protein 140 homolog Size: 1462 amino acids; 165193 Da
Subunit: Component of the IFT complex A (IFT-A)
Subcellular location: Cytoplasm, cytoskeleton, cilium basal body
Sequence caution: Sequence=BAA25516.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A2A2A8 D3DU75 O60332Explore the universe of human proteins at neXtProt for IFT140: NX_Q96RY7
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96RY7 IFT140 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_055529.2 ENSEMBL proteins: ENSP00000354895 ENSP00000406012 ENSP00000380562 ENSP00000458439 ENSP00000454781 ENSP00000457092 Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
IFT140 for ontologies About GeneDecksing
IFT140 Antibody Products: Assay Products for IFT140: |
Protein
Domains / Families for IFT140 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
IFT140 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q96RY7ProtoNet protein and cluster: Q96RY7 1 Blocks protein family: IPB002885 PPR repeat
UniProtKB/Swiss-Prot: IF140_HUMAN, Q96RY7Similarity: Contains 9 TPR repeatsSimilarity: Contains 5 WD repeats |
Function for IFT140 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: IF140_HUMAN, Q96RY7Function: Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Plays a pivotalrole in proper development and function of ciliated cells. Involved in ciliogenesis and cilia maintenance
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IFT140 (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IFT140 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: IFT140 (NM_014714) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for IFT140 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IFT140  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFT140 |
Animal Models: 4 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Ift140):
IFT140 for phenotypes About GeneDecksing
|
Pathways & Interactions for IFT140 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IFT140
STRING Interaction
Network Preview (showing 3 interactants - click image to see more details)
 5 Interacting proteins for IFT140 (Q96RY72, 3 ENSP000003548954) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0042384 | cilium assembly |
IEA | -- |
IFT140 for ontologies About GeneDecksing
|
Drugs & Compounds for IFT140 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for IFT140 Search CenterWatch for drugs/clinical trials and news about IFT140 / IF140 
|
Transcripts for IFT140 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for IFT140 gene: NM_014714.3 Unigene Cluster for IFT140: Intraflagellar transport 140 homolog (Chlamydomonas) Hs.389438 [show with all ESTs]Unigene Representative Sequence: NM_01471411 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000361339 ENST00000426508(uc002clz.3 uc002cmb.3) ENST00000565298 ENST00000397417 ENST00000568837 ENST00000566818 ENST00000439987 ENST00000561954 ENST00000566052 ENST00000569646 ENST00000569812
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IFT140 (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IFT140 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: IFT140 (NM_014714) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for IFT140 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IFT140  |
Additional cDNA sequence: AB011162.1 AB209020.1 AK001168.1 AK001797.1 AK023912.1 AK055133.1 AK299035.1 AK299115.1 AL080069.1 BC035577.1 BC112436.1 BC114455.1 BC117675.1 12 DOTS entries: DT.95163491 DT.100743787 DT.91969647 DT.120681731 DT.100743788 DT.40307423 DT.434528 DT.75145200 DT.75169554 DT.95163490 DT.91639950 DT.92425008 17 AceView cDNA sequences: BC035577 AL080069 CD625978 AK055133 AB011162 AK001168 BF943221 NM_014714 BF963207 BF742213 BM708945 AW392533 BF769449 BF958704 BQ354682 AK001797 BF905460 GeneLoc Exon Structure
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Expression for IFT140 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| IFT140 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TCTGTGTTGG
About this image See IFT140 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for IFT140
SOURCE GeneReport for Unigene cluster: Hs.389438 SABiosciences Custom PCR Arrays for IFT140
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for IFT140 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat IFT140 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IFT140 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IFT140 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFT140 |
Orthologs for IFT140 gene
(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)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for IFT140 gene from 7/23 species (see all 23) About this table
ENSEMBL Gene Tree for IFT140 (if available) TreeFam Gene Tree for IFT140 (if available)  |
Paralogs for IFT140 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| -- |
Genomic Variants for IFT140 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 16 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for IFT140 (1560428 - 1662111 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 2 variations for IFT140 2 CNVs: 5329 4779 Human Gene Mutation Database (HGMD): IFT140
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IFT140 |
|
Disorders
/ Diseases for IFT140 gene
(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.)
About This Section
|
IFT140 for disorders About GeneDecksing
OMIM gene information: 614620
OMIM disorders: --
UniProtKB/Swiss-Prot: IF140_HUMAN, Q96RY7
Defects in IFT140 are the cause of Mainzer-Saldino syndrome (MZSDS) [MIM:266920]. MZSDS is a rare autosomalrecessive disease characterized by phalangeal cone- shaped epiphyses, chronic renal disease, nearly constant retinaldystrophy, and mild radiographic abnormality of the proximal femur. Occasional features include short stature,cerebellar ataxia, and hepatic fibrosis 2 diseases for IFT140: About MalaCardsfundus dystrophy neuronitis 1 disease from the University of Copenhagen DISEASES database for IFT140:Asphyxiating thoracic dystrophy Export disorders for IFT140 gene to outside databases
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Publications for IFT140 gene (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)
About This Section
|
PubMed articles for IFT140 gene, integrated from 9 sources (see all 16): (articles sorted by number of sources associating them with IFT140) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2, 3 Nagase T....Ohara O. (1998)
- Mainzer-Saldino syndrome is a ciliopathy caused by IFT 140 mutations. (PubMed id 22503633)1, 2 Perrault I....Rozet J.M. (2012)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797)1, 2 Daniels R.J....Higgs D.R. (2001)
- Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
- Disruption of IFT complex A causes cystic kidneys with out mitotic spindle misorientation. (PubMed id 22282595)1 Jonassen J.A....Pazour G.J. (2012)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia. (PubMed id 20889716)2 Mukhopadhyay S....Jackson P.K. (2010)
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External Searches for IFT140 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing IFT140 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing IFT140 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing IFT140 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for IFT140 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for IFT140 gene: Search GeneIP for patents involving IFT140
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for IFT140 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
|
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| | | Search Tocris compounds for IFT140 |
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 | | IFT140 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFT140 |
|  |  |  | | | Search ThermoFisher Antibodies for IFT140 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IFT140 |
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