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Aliases for IFT122 Gene

Aliases for IFT122 Gene

  • Intraflagellar Transport 122 2 3
  • WDR10 3 4 6
  • WD Repeat-Containing Protein 140 3 4
  • WD Repeat-Containing Protein 10 3 4
  • WD Repeat Domain 10 2 3
  • WDR140 3 4
  • CED1 3 6
  • SPG 3 4
  • Intraflagellar Transport 122 Homolog (Chlamydomonas) 2
  • Intraflagellar Transport Protein 122 Homolog 3
  • Intraflagellar Transport 122 Homolog 3
  • WDR10p 3
  • CED 3

External Ids for IFT122 Gene

Previous HGNC Symbols for IFT122 Gene

  • WDR10

Previous GeneCards Identifiers for IFT122 Gene

  • GC03P130642
  • GC03P129158
  • GC03P126542

Summaries for IFT122 Gene

Entrez Gene Summary for IFT122 Gene

  • This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

GeneCards Summary for IFT122 Gene

IFT122 (Intraflagellar Transport 122) is a Protein Coding gene. Diseases associated with IFT122 include cranioectodermal dysplasia 1 and afferent loop syndrome.

UniProtKB/Swiss-Prot for IFT122 Gene

  • Required for cilia formation during neuronal patterning. Acts as a negative regulator of Shh signaling. Required to recruit TULP3 to primary cilia (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IFT122 Gene

Genomics for IFT122 Gene

Regulatory Elements for IFT122 Gene

Genomic Location for IFT122 Gene

Start:
129,440,036 bp from pter
End:
129,520,507 bp from pter
Size:
80,472 bases
Orientation:
Plus strand

Genomic View for IFT122 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IFT122 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IFT122 Gene

Proteins for IFT122 Gene

  • Protein details for IFT122 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HBG6-IF122_HUMAN
    Recommended name:
    Intraflagellar transport protein 122 homolog
    Protein Accession:
    Q9HBG6
    Secondary Accessions:
    • B3KW53
    • B4DEY9
    • B4DPW7
    • E7EQF4
    • E9PDG2
    • E9PDX2
    • G3XAB1
    • H7C3C0
    • Q53G36
    • Q8TC06
    • Q9BTB9
    • Q9BTY4
    • Q9HAT9
    • Q9HBG5
    • Q9NV68
    • Q9UF80

    Protein attributes for IFT122 Gene

    Size:
    1241 amino acids
    Molecular mass:
    141825 Da
    Quaternary structure:
    • Component of the IFT complex A (IFT-A) complex.

    Alternative splice isoforms for IFT122 Gene

neXtProt entry for IFT122 Gene

Proteomics data for IFT122 Gene at MOPED

Post-translational modifications for IFT122 Gene

  • Ubiquitination at Lys10, Lys53, Lys83, Lys262, Lys271, Lys291, Lys302, Lys705, Lys753, Lys1004, Lys1033, Lys1045, Lys1141, and Lys1153
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for IFT122 Gene

Domains for IFT122 Gene

Gene Families for IFT122 Gene

HGNC:
  • IFT :Intraflagellar transport homologs
  • WDR :WD repeat domain containing

Protein Domains for IFT122 Gene

Graphical View of Domain Structure for InterPro Entry

Q9HBG6

UniProtKB/Swiss-Prot:

IF122_HUMAN :
  • Q9HBG6
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with IFT122: view

Function for IFT122 Gene

Molecular function for IFT122 Gene

UniProtKB/Swiss-Prot Function: Required for cilia formation during neuronal patterning. Acts as a negative regulator of Shh signaling. Required to recruit TULP3 to primary cilia (By similarity).

Gene Ontology (GO) - Molecular Function for IFT122 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22190034
genes like me logo Genes that share ontologies with IFT122: view
genes like me logo Genes that share phenotypes with IFT122: view

Animal Models for IFT122 Gene

MGI Knock Outs for IFT122:

miRNA for IFT122 Gene

miRTarBase miRNAs that target IFT122

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for IFT122 Gene

Localization for IFT122 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IFT122 Gene

Cytoplasm. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes to photoreceptor connecting cilia. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IFT122 Gene COMPARTMENTS Subcellular localization image for IFT122 gene
Compartment Confidence
cytosol 3
cytoskeleton 2
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for IFT122 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005929 cilium IBA --
GO:0016020 membrane IDA 19946888
GO:0030991 intraciliary transport particle A IDA 20889716
GO:0032391 photoreceptor connecting cilium ISS --
genes like me logo Genes that share ontologies with IFT122: view

Pathways for IFT122 Gene

SuperPathways for IFT122 Gene

No Data Available

Gene Ontology (GO) - Biological Process for IFT122 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001843 neural tube closure ISS --
GO:0006996 organelle organization TAS --
GO:0007227 signal transduction downstream of smoothened IEA --
GO:0009953 dorsal/ventral pattern formation --
GO:0010172 embryonic body morphogenesis ISS --
genes like me logo Genes that share ontologies with IFT122: view

No data available for Pathways by source for IFT122 Gene

Transcripts for IFT122 Gene

Unigene Clusters for IFT122 Gene

Intraflagellar transport 122 homolog (Chlamydomonas):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for IFT122 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h · 1i ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a ·
SP1: - - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - - - -
SP5: - - - - - - - -
SP6: - - - - - - - -
SP7: - -
SP8:
SP9: - - - - - - - - - -
SP10: - - - - - - - -
SP11:
SP12:
SP13: - - - - - - - - - - - - - - -
SP14: - - - - -
SP15: - - - - - - - - - - - -
SP16: - - - - -
SP17:
SP18:
SP19:

ExUns: 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20a · 20b · 20c ^ 21 ^ 22a · 22b · 22c ^ 23a · 23b · 23c ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^
SP1: - -
SP2: - -
SP3: - -
SP4: - -
SP5: - -
SP6: - -
SP7: - - - -
SP8: -
SP9:
SP10:
SP11: - - -
SP12:
SP13: - - - - - - - - - - -
SP14:
SP15:
SP16:
SP17:
SP18:
SP19: -

ExUns: 30 ^ 31 ^ 32 ^ 33 ^ 34
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:

Relevant External Links for IFT122 Gene

GeneLoc Exon Structure for
IFT122
ECgene alternative splicing isoforms for
IFT122

Expression for IFT122 Gene

mRNA expression in normal human tissues for IFT122 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IFT122 Gene

This gene is overexpressed in Testis (5.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for IFT122 Gene

SOURCE GeneReport for Unigene cluster for IFT122 Gene Hs.655284

mRNA Expression by UniProt/SwissProt for IFT122 Gene

Q9HBG6-IF122_HUMAN
Tissue specificity: Expressed in many tissues. Predominant expression in testis and pituitary.
genes like me logo Genes that share expressions with IFT122: view

Orthologs for IFT122 Gene

This gene was present in the common ancestor of animals.

Orthologs for IFT122 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IFT122 35
  • 99.5 (n)
  • 99.73 (a)
IFT122 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IFT122 35
  • 86.55 (n)
  • 88.83 (a)
IFT122 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IFT122 35
  • 88.72 (n)
  • 90.69 (a)
IFT122 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ift122 35
  • 81.64 (n)
  • 82.44 (a)
Ift122 16
Ift122 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IFT122 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 92 (a)
OneToMany
-- 36
  • 61 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
-- 36
  • 82 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ift122 35
  • 88.88 (n)
  • 91.3 (a)
chicken
(Gallus gallus)
Aves IFT122 35
  • 76.23 (n)
  • 84.06 (a)
IFT122 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IFT122 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ift122 35
  • 75.53 (n)
  • 82.88 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10996 35
zebrafish
(Danio rerio)
Actinopterygii Dr.15377 35
ift122 35
  • 74.42 (n)
  • 77.67 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006535 35
  • 56.67 (n)
  • 50 (a)
fruit fly
(Drosophila melanogaster)
Insecta Oseg1 35
  • 52.61 (n)
  • 43.32 (a)
Oseg1 36
  • 47 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea daf-10 35
  • 48.94 (n)
  • 41.59 (a)
daf-10 36
  • 40 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
OneToOne
Species with no ortholog for IFT122:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for IFT122 Gene

ENSEMBL:
Gene Tree for IFT122 (if available)
TreeFam:
Gene Tree for IFT122 (if available)

Paralogs for IFT122 Gene

Pseudogenes.org Pseudogenes for IFT122 Gene

genes like me logo Genes that share paralogs with IFT122: view

No data available for Paralogs for IFT122 Gene

Variants for IFT122 Gene

Sequence variations from dbSNP and Humsavar for IFT122 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs872024 -- 129,520,526(+) TTGTT(C/T)GTGGC downstream-variant-500B
rs1872104 -- 129,502,506(-) TGTCA(C/G)CCACC intron-variant
rs1872105 -- 129,502,139(-) GTCTT(C/T)CCTGT intron-variant
rs1872106 -- 129,520,836(+) AATAC(C/G)TGGGT downstream-variant-500B
rs1872107 -- 129,520,959(+) GCAGC(C/G)CCAGC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for IFT122 Gene

Variant ID Type Subtype PubMed ID
nsv877475 CNV Gain 21882294
esv2725901 CNV Deletion 23290073
nsv877476 CNV Gain 21882294
esv2725902 CNV Deletion 23290073
nsv3998 CNV Loss 18451855
dgv5254n71 CNV Loss 21882294
dgv5255n71 CNV Loss 21882294
esv27221 CNV Loss 19812545
esv2725903 CNV Deletion 23290073

Relevant External Links for IFT122 Gene

HapMap Linkage Disequilibrium report
IFT122
Human Gene Mutation Database (HGMD)
IFT122
Locus Specific Mutation Databases (LSDB)
IFT122

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IFT122 Gene

Disorders for IFT122 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for IFT122 Gene including...

Search for IFT122 Gene in MalaCards »

(1) OMIM Diseases for IFT122 Gene (606045)

UniProtKB/Swiss-Prot

IF122_HUMAN
  • Cranioectodermal dysplasia 1 (CED1) [MIM:218330]: A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include dolichocephaly (with or without sagittal suture synostosis), scaphocephaly, short stature, limb shortening, short ribs, narrow chest, brachydactyly, renal failure and hepatic fibrosis, small and abnormally shaped teeth, sparse hair, skin laxity and abnormal nails. {ECO:0000269 PubMed:20493458}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with IFT122: view

Publications for IFT122 Gene

  1. Cloning and characterization of human WDR10, a novel gene located at 3q21 encoding a WD-repeat protein that is highly expressed in pituitary and testis. (PMID: 11242542) Gross C. … Messiaen L. (DNA Cell Biol. 2001) 2 3 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. (PMID: 20493458) Walczak-Sztulpa J. … Kuss A.W. (Am. J. Hum. Genet. 2010) 3 4
  4. TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia. (PMID: 20889716) Mukhopadhyay S. … Jackson P.K. (Genes Dev. 2010) 3 4
  5. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PMID: 21890473) Wagner S.A. … Choudhary C. (Mol. Cell Proteomics 2011) 3

Products for IFT122 Gene

Sources for IFT122 Gene

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