IFT122 (intraflagellar transport 122)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55764
Gene name Gene Name - the full gene name approved by the HGNC.
Intraflagellar transport 122
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IFT122
Synonyms (NCBI Gene) Gene synonyms aliases
CED, CED1, CFAP80, FAP80, SPG, WDR10, WDR10p, WDR140
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CED1
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q21.3-q22.1
Summary Summary of gene provided in NCBI Entrez 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 com
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
SNP ID Visualize variation Clinical significance Consequence
rs76881473 C>T Benign, conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant, genic downstream transcript variant
rs79187669 C>T Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign Synonymous variant, coding sequence variant, 5 prime UTR variant
rs138329739 C>T Conflicting-interpretations-of-pathogenicity Genic upstream transcript variant, stop gained, intron variant, coding sequence variant
rs146818399 T>G Uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, genic downstream transcript variant
rs191420441 T>C Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT018545 hsa-miR-335-5p Microarray 18185580
MIRT2682638 hsa-miR-2355-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(27)
GO ID Ontology Definition Evidence Reference
GO:0001843 Process Neural tube closure ISS
GO:0005515 Function Protein binding IPI 22190034, 29220510, 30476139
GO:0005737 Component Cytoplasm IEA
GO:0005929 Component Cilium IDA 29220510
GO:0005929 Component Cilium ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606045 13556 ENSG00000163913
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9HBG6
Protein name Intraflagellar transport protein 122 homolog (WD repeat-containing protein 10) (WD repeat-containing protein 140)
Protein function As a component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is required in ciliogenesis and ciliary protein trafficking (PubMed:27932497, PubMed
PDB 8BBE , 8BBF , 8BBG , 8FGW , 8FH3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 43 → 81 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in many tissues. Predominant expression in testis and pituitary. {ECO:0000269|PubMed:11242542}.
Sequence 
MRAVLTWRDKAEHCINDIAFKPDGTQLILAAGSRLLVYDTSDGTLLQPLKGHKDTVYCVA
YAKDGKRFASGSADKSVIIWTSKLEGILKYTHNDAIQCVSYNPITHQLASCSSSDFGLWS
PEQKSVSKHKSSSKIICCSWTNDGQYLALGMFNGIISIRNKNGEEKVKIERPGGSLSPIW
SICWNPSSRWESFWMNRENEDAEDVIVNRYIQEIPSTLKSAVYSSQGSEAEEEEPEEEDD
SPRDDNLEERNDILAVADWGQKVSFYQLSGKQIGKDRALNFDPCCISYFTKGEYILLGGS
DKQVSLFTKDGVRLGTVGEQNSWVWTCQAKPDSNYVVVGCQDGTISFYQLIFSTVHGLYK
DRYAYRDSMTDVIVQHLITEQKVRIKCKELVKKIAIYRNRLAIQLPEKILIYELYSEDLS
DMHYRVKEKIIKKFECNLLVVCANHIILCQEKRLQCLSFSGVKEREWQMESLIRYIKVIG
GPPGREGLLVGLKNGQILKIFVDNLFAIVLLKQATAVRCLDMSASRKKLAVVDENDTCLV
YDIDTKELLFQEPNANSVAWNTQCEDMLCFSGGGYLNIKASTFPVHRQKLQGFVVGYNGS
KIFCLHVFSISAVEVPQSAPMYQYLDRKLFKEAYQIACLGVTDTDWRELAMEALEGLDFE
TAKKAFIRVQDLRYLELISSIEERKKRGETNNDLFLADVFSYQGKFHEAAKLYKRSGHEN
LALEMYTDLCMFEYAKDFLGSGDPKETKMLITKQADWARNIKEPKAAVEMYISAGEHVKA
IEICGDHGWVDMLIDIARKLDKAEREPLLLCATYLKKLDSPGYAAETYLKMGDLKSLVQL
HVETQRWDEAFALGEKHPEFKDDIYMPYAQWLAENDRFEEAQKAFHKAGRQREAVQVLEQ
LTNNAVAESRFNDAAYYYWMLSMQCLDIAQDPAQKDTMLGKFYHFQRLAELYHGYHAIHR
HTEDPFSVHRPETLFNISRFLLHSLPKDTPSGISKVKILFTLAKQSKALGAYRLARHAYD
KLRGLYIPARFQKSIELGTLTIRAKPFHDSEELVPLCYRCSTNNPLLNNLGNVCINCRQP
FIFSASSYDVLHLVEFYLEEGITDEEAISLIDLEVLRPKRDDRQLEIANNSSQILRLVET
KDSIGDEDPFTAKLSFEQGGSEFVPVVVSRLVLRSMSRRDVLIKRWPPPLRWQYFRSLLP
DASITMCPSCFQMFHSEDYELLVLQHGCCPYCRRCKDDPGP
Sequence length 1241
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Hedgehog 'off' state
Intraflagellar transport
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (18)
Causal
Disease term Disease name dbSNP ID References
Bicuspid aortic valve Bicuspid aortic valve rs1569484234, rs1569484208
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Ciliary dyskinesia Ciliary Motility Disorders, Primary Ciliary Dyskinesia rs397515339, rs267607225, rs267607226, rs786205052, rs267607227, rs118204041, rs118204042, rs118204043, rs137853191, rs121434369, rs397515565, rs397515358, rs137852998, rs397515363, rs79833450
View all (813 more)		 20493458
Congenital hydrocephalus Congenital Hydrocephalus rs387907321, rs1575362239, rs1576408050, rs1576412227, rs1576426439, rs1588574984, rs1588622713 20493458
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Trigonocephaly Trigonocephaly 20493458 ClinVar
Cranioectodermal Dysplasia cranioectodermal dysplasia GenCC
Show/Hide Text Mining Associations (2)
Associations from Text Mining
Disease Name Relationship Type References
Camurati Engelmann Syndrome Stimulate 40204055
Cranioectodermal Dysplasia Associate 20493458, 32007091