Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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
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

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
rs267607191	T>G	Pathogenic	Coding sequence variant, missense variant
rs267607192	C>T	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs373836204	T>C,G	Pathogenic	Synonymous variant, stop gained, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs376595844	G>A,C,T	Pathogenic	Genic upstream transcript variant, intron variant
rs397515567	G>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs397515568	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs755005244	G>C	Pathogenic	Splice acceptor variant
rs757823317	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs776099605	A>C,G,T	Likely-pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, missense variant
rs781409395	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, 5 prime UTR variant
rs786205566	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs786205567	T>C	Pathogenic, likely-pathogenic	Splice donor variant
rs886041421	TA>-	Pathogenic	Frameshift variant, coding sequence variant
rs886042132	A>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1185183557	C>T	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs1559869525	G>A	Likely-pathogenic	Genic upstream transcript variant, splice donor variant, intron variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018545	hsa-miR-335-5p	Microarray	18185580
MIRT2682638	hsa-miR-2355-5p	CLIP-seq

Show/Hide all(49)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001843	Process	Neural tube closure	ISS
GO:0005515	Function	Protein binding	IPI	22190034, 27173435, 27932497, 28514442, 29220510, 30476139, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA	29220510
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0005929	Component	Cilium	NAS	27806291
GO:0005929	Component	Cilium	TAS
GO:0010172	Process	Embryonic body morphogenesis	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0021513	Process	Spinal cord dorsal/ventral patterning	ISS
GO:0030030	Process	Cell projection organization	IEA
GO:0030991	Component	Intraciliary transport particle A	IBA
GO:0030991	Component	Intraciliary transport particle A	IDA	20889716, 27932497, 29220510, 30476139
GO:0030991	Component	Intraciliary transport particle A	IEA
GO:0030991	Component	Intraciliary transport particle A	IPI	27173435
GO:0031965	Component	Nuclear membrane	IDA
GO:0032391	Component	Photoreceptor connecting cilium	ISS
GO:0035050	Process	Embryonic heart tube development	ISS
GO:0035115	Process	Embryonic forelimb morphogenesis	ISS
GO:0035556	Process	Intracellular signal transduction	ISS
GO:0035720	Process	Intraciliary anterograde transport	ISS
GO:0035721	Process	Intraciliary retrograde transport	IBA
GO:0035721	Process	Intraciliary retrograde transport	ISS
GO:0035721	Process	Intraciliary retrograde transport	NAS	27806291
GO:0036064	Component	Ciliary basal body	IDA	29220510
GO:0036064	Component	Ciliary basal body	IEA
GO:0042073	Process	Intraciliary transport	IEA
GO:0042073	Process	Intraciliary transport	IMP	29220510
GO:0042995	Component	Cell projection	IEA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	ISS
GO:0048593	Process	Camera-type eye morphogenesis	ISS
GO:0060173	Process	Limb development	ISS
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	29220510
GO:0060271	Process	Cilium assembly	ISS
GO:0060271	Process	Cilium assembly	NAS	27806291
GO:0060971	Process	Embryonic heart tube left/right pattern formation	ISS
GO:0061512	Process	Protein localization to cilium	IBA
GO:0061512	Process	Protein localization to cilium	IEA
GO:0061512	Process	Protein localization to cilium	IMP	20889716
GO:0061512	Process	Protein localization to cilium	IMP	29220510
GO:0072594	Process	Establishment of protein localization to organelle	ISS
GO:0097542	Component	Ciliary tip	TAS
GO:0097730	Component	Non-motile cilium	IBA
GO:1905515	Process	Non-motile cilium assembly	IBA

MIM	HGNC	e!Ensembl
606045	13556	ENSG00000163913

Protein

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

	Reactome
			Hedgehog 'off' state Intraflagellar transport

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Cranioectodermal Dysplasia	cranioectodermal dysplasia 1	rs267607193, rs397515567, rs786205566, rs786205567, rs776099605, rs1559869525, rs138329739, rs755005244, rs1185183557, rs267607191, rs267607192	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Connective Tissue Disease	Connective tissue disorder	N/A	N/A	ClinVar
Microcephaly	microcephaly	N/A	N/A	ClinVar
Rod-cone dystrophy	rod-cone dystrophy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Camurati Engelmann Syndrome	Stimulate	40204055
Cranioectodermal Dysplasia	Associate	20493458, 32007091

IFT122 (intraflagellar transport 122)