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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	9851
Gene name	KIAA0753
Gene symbol	KIAA0753
Synonyms (NCBI Gene)	JBTS38MNROFIPSRTD21
Chromosome	17
Chromosome location	17p13.1
Summary	This gene encodes a subunit of a protein complex that regulates ciliogenesis and cilia maintenance. The encoded protein has also been shown to regulate centriolar duplication. Mutations in this gene cause an orofaciodigital syndrome and a form of Joubert

Show/Hide all (11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs370840009	G>A,T	Pathogenic, likely-benign	Non coding transcript variant, synonymous variant, stop gained, coding sequence variant
rs746068882	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant, non coding transcript variant
rs749044639	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs752659088	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, intron variant, synonymous variant, non coding transcript variant
rs762771340	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs770256450	CT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs774799042	G>A	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs780010794	A>G,T	Pathogenic	Stop gained, non coding transcript variant, intron variant, synonymous variant, coding sequence variant
rs886038200	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs886038201	G>T	Pathogenic	Intron variant
rs1555531363	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

105

Show/Hide all (105)

miRTarBase ID	miRNA	Experiments
MIRT1087969	hsa-miR-1825	CLIP-seq
MIRT1087970	hsa-miR-188-5p	CLIP-seq
MIRT1087971	hsa-miR-199a-5p	CLIP-seq
MIRT1087972	hsa-miR-199b-5p	CLIP-seq
MIRT1087973	hsa-miR-3925-3p	CLIP-seq
MIRT1087974	hsa-miR-4302	CLIP-seq
MIRT1087975	hsa-miR-4504	CLIP-seq
MIRT1087976	hsa-miR-4719	CLIP-seq
MIRT1087977	hsa-miR-4724-3p	CLIP-seq
MIRT1087978	hsa-miR-515-5p	CLIP-seq
MIRT1087979	hsa-miR-542-3p	CLIP-seq
MIRT1087980	hsa-miR-642b	CLIP-seq
MIRT1087981	hsa-miR-766	CLIP-seq
MIRT1921230	hsa-miR-326	CLIP-seq
MIRT1921231	hsa-miR-330-5p	CLIP-seq
MIRT1921232	hsa-miR-4659a-3p	CLIP-seq
MIRT1921233	hsa-miR-4659b-3p	CLIP-seq
MIRT1921234	hsa-miR-4667-5p	CLIP-seq
MIRT1921235	hsa-miR-4700-5p	CLIP-seq
MIRT1921236	hsa-miR-4768-5p	CLIP-seq
MIRT1921237	hsa-miR-637	CLIP-seq
MIRT2023313	hsa-miR-34a	CLIP-seq
MIRT2023314	hsa-miR-34c-5p	CLIP-seq
MIRT2023315	hsa-miR-3660	CLIP-seq
MIRT2023316	hsa-miR-3677-5p	CLIP-seq
MIRT2023317	hsa-miR-3919	CLIP-seq
MIRT2023318	hsa-miR-4257	CLIP-seq
MIRT2023319	hsa-miR-4427	CLIP-seq
MIRT2023320	hsa-miR-449a	CLIP-seq
MIRT2023321	hsa-miR-449b	CLIP-seq
MIRT2023322	hsa-miR-4526	CLIP-seq
MIRT2023323	hsa-miR-4645-5p	CLIP-seq
MIRT2023324	hsa-miR-4673	CLIP-seq
MIRT2023325	hsa-miR-4680-3p	CLIP-seq
MIRT2023326	hsa-miR-520a-5p	CLIP-seq
MIRT2023327	hsa-miR-521	CLIP-seq
MIRT2023328	hsa-miR-525-5p	CLIP-seq
MIRT2023329	hsa-miR-561	CLIP-seq
MIRT2023323	hsa-miR-4645-5p	CLIP-seq
MIRT2023324	hsa-miR-4673	CLIP-seq
MIRT2452420	hsa-miR-3622a-3p	CLIP-seq
MIRT2452421	hsa-miR-3622b-3p	CLIP-seq
MIRT2452422	hsa-miR-578	CLIP-seq
MIRT2452423	hsa-miR-643	CLIP-seq
MIRT2452420	hsa-miR-3622a-3p	CLIP-seq
MIRT2452421	hsa-miR-3622b-3p	CLIP-seq
MIRT2452422	hsa-miR-578	CLIP-seq
MIRT2452423	hsa-miR-643	CLIP-seq
MIRT2556582	hsa-miR-103a	CLIP-seq
MIRT2556583	hsa-miR-107	CLIP-seq
MIRT2556584	hsa-miR-1184	CLIP-seq
MIRT2556585	hsa-miR-125a-5p	CLIP-seq
MIRT2556586	hsa-miR-125b	CLIP-seq
MIRT2556587	hsa-miR-1271	CLIP-seq
MIRT2556588	hsa-miR-1296	CLIP-seq
MIRT2556589	hsa-miR-139-5p	CLIP-seq
MIRT2556590	hsa-miR-182	CLIP-seq
MIRT2556591	hsa-miR-2277-3p	CLIP-seq
MIRT2556592	hsa-miR-2467-3p	CLIP-seq
MIRT2556593	hsa-miR-296-5p	CLIP-seq
MIRT2556594	hsa-miR-3150b-3p	CLIP-seq
MIRT2556595	hsa-miR-325	CLIP-seq
MIRT2556596	hsa-miR-3618	CLIP-seq
MIRT2556597	hsa-miR-3649	CLIP-seq
MIRT2023315	hsa-miR-3660	CLIP-seq
MIRT2556598	hsa-miR-3667-3p	CLIP-seq
MIRT2556599	hsa-miR-3673	CLIP-seq
MIRT2023318	hsa-miR-4257	CLIP-seq
MIRT2556600	hsa-miR-4276	CLIP-seq
MIRT2556601	hsa-miR-4283	CLIP-seq
MIRT2556602	hsa-miR-4287	CLIP-seq
MIRT2556603	hsa-miR-4297	CLIP-seq
MIRT2556604	hsa-miR-4319	CLIP-seq
MIRT2556605	hsa-miR-4418	CLIP-seq
MIRT2556606	hsa-miR-4464	CLIP-seq
MIRT2556607	hsa-miR-4469	CLIP-seq
MIRT2556608	hsa-miR-4494	CLIP-seq
MIRT2556609	hsa-miR-4512	CLIP-seq
MIRT2023322	hsa-miR-4526	CLIP-seq
MIRT2556610	hsa-miR-4640-5p	CLIP-seq
MIRT2556611	hsa-miR-4685-3p	CLIP-seq
MIRT2556612	hsa-miR-4707-5p	CLIP-seq
MIRT2556613	hsa-miR-4726-5p	CLIP-seq
MIRT2556614	hsa-miR-4732-3p	CLIP-seq
MIRT2556615	hsa-miR-4748	CLIP-seq
MIRT2556616	hsa-miR-4784	CLIP-seq
MIRT2556617	hsa-miR-509-3-5p	CLIP-seq
MIRT2556618	hsa-miR-509-5p	CLIP-seq
MIRT2556619	hsa-miR-548g	CLIP-seq
MIRT2556620	hsa-miR-581	CLIP-seq
MIRT2556621	hsa-miR-627	CLIP-seq
MIRT2556622	hsa-miR-670	CLIP-seq
MIRT2556623	hsa-miR-885-3p	CLIP-seq
MIRT2556624	hsa-miR-922	CLIP-seq
MIRT2556625	hsa-miR-924	CLIP-seq
MIRT2556626	hsa-miR-96	CLIP-seq
MIRT2556593	hsa-miR-296-5p	CLIP-seq
MIRT2683342	hsa-miR-3064-3p	CLIP-seq
MIRT2556595	hsa-miR-325	CLIP-seq
MIRT2452420	hsa-miR-3622a-3p	CLIP-seq
MIRT2452421	hsa-miR-3622b-3p	CLIP-seq
MIRT2683343	hsa-miR-4661-5p	CLIP-seq
MIRT1087976	hsa-miR-4719	CLIP-seq
MIRT2452422	hsa-miR-578	CLIP-seq
MIRT2452423	hsa-miR-643	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 26297806, 26638075, 26871637, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IEA
GO:0005815	Component	Microtubule organizing center	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA
GO:0007099	Process	Centriole replication	IEA
GO:0034451	Component	Centriolar satellite	IBA
GO:0034451	Component	Centriolar satellite	IDA	26297806
GO:0034451	Component	Centriolar satellite	IEA
GO:0036064	Component	Ciliary basal body	IDA
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IEA
GO:0060271	Process	Cilium assembly	IMP	28220259
GO:0061824	Process	Cytosolic ciliogenesis	IMP	28220259
GO:0071539	Process	Protein localization to centrosome	IBA
GO:0071539	Process	Protein localization to centrosome	IMP	26297806

MIM	HGNC	e!Ensembl
617112	29110	ENSG00000198920

Q2KHM9

Protein name

Protein moonraker (MNR) (OFD1- and FOPNL-interacting protein)

Protein function

Involved in centriole duplication (PubMed:24613305, PubMed:26297806). Positively regulates CEP63 centrosomal localization (PubMed:24613305, PubMed:26297806). Required for WDR62 centrosomal localization and promotes the centrosomal localization o

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15718	MNR	1 → 962	Protein moonraker	Family

Sequence

MGPGQPASTCVHLAPRTQLDGRSDPKVLQTQNQLQFNRNVPTHSSNLAIRYSCPHAIRIE
KLKHSYNESYHCKDADCRVGPDLGSSVSFSVISQERLSYAVHLARRDVKRRQFEKHIKEH
HLRSQPQSSQKCGHTKYKIPDHRVERKESKSQAACQCSHQPSKVEISSSGAKVYLYSSHP
GQSDLTVPNSPPTHDPGLQPHPRIGDHKNISEQKSLLEVQRLQKELSSCIHKIEEVTKKD
RLEEALDPDEERRIRIRRQEQAARSARMLYVLQQQVKEIQEELDKLSPHKIKHTKKSWAM
SKLAAAHRGAIRALQMFVTQFTDRGEHPLPARCKELGSLIRQLSLCSVKLDADPSVPDVV
IDILQQIEALESLLEKKLSPKKVKKCFSEIRSRFPIGSQKALERWPSTSPKGERRPLTAK
DTFPQETSRPSVAKQLLADKYQPDTELPETQRLQSELDVLDADIVLEEGPFILDQSASFK
DEVLAVAKTKAGKKKPVTENVPFRKKDTLAPARQQGLRKAERGRQSQPHSKSRVQQTTVS
SRLKMNRQPVKDRKAPWIPPNPTSPPASPKCAAWLKVKTSPRDATKEPLQQEDPQEESHL
TGAVEHEAARLAWLDAETSKRLKELEELKAKEIDSMQKQRLDWLDAETSRRTKELNELKA
EEMYRLQQLSVSATHLADKVEEAVLDRLKPLLVKAQRVNSTTEANIHLKDGSSVNTAKAQ
PAQEVAAVDFESNNIRQLDDFLEDCASELWAVTHAKILGSETLATVEDSKDSPDLEIMMR
RMEEMEKYQESVRQRYNKIAYADPRLWMQEENNDQKISAISEKPLSPHPIRITKTVDRKD
PAVNIMLERPCNGNSLDESVGTEEGSEKREAPLLSLAEDSQQKEGRAPLFVPPGMQHSIG
DYCSRFEQYLRIISHEAVGSFNPWLIAESFSEELVDEALGAVAAELQDMCEDYAEAVFTS
EFLEAAT

Sequence length

967

Interactions

View interactions

103

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Jeune thoracic dystrophy	Likely pathogenic; Pathogenic	rs746068882, rs1555531363, rs762771340	RCV000590973 RCV000590980 RCV000590971
Joubert syndrome	Likely pathogenic; Pathogenic	rs746068882, rs1555531363, rs762771340	RCV000590973 RCV000590980 RCV000590971
Joubert syndrome 38	Pathogenic; Likely pathogenic	rs2150895254, rs1312865574, rs766831438, rs886038200, rs750740421	RCV001559135 RCV001559136 RCV002222942 RCV003225054 RCV003225651
KIAA0753-related disorder	Likely pathogenic; Pathogenic	rs370840009	RCV002280140
Orofaciodigital syndrome XV	Likely pathogenic; Pathogenic	rs774903749, rs886038200, rs746068882, rs370840009, rs774799042	RCV005363072 RCV000241533 RCV002248721 RCV001330561 RCV005359732
Short-rib thoracic dysplasia 21 without polydactyly	Pathogenic; Likely pathogenic	rs1970256904, rs774903749, rs746068882, rs1555531363, rs762771340, rs770256450, rs370840009, rs774799042	RCV001559340 RCV005363072 RCV001559335 RCV001559337 RCV001559336 RCV001559338 RCV005357988 RCV005359732

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Lung cancer	Likely benign	rs139867794	RCV005906691

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Agenesis of Cerebellar Vermis	Associate	29138412, 34523780, 34711653
Cerebellar Hypoplasia	Associate	34711653
Ciliopathies	Associate	29138412, 33875766, 34523780
Colorectal Neoplasms	Associate	32207560
HEM dysplasia	Associate	29138412
Orofaciodigital Syndromes	Associate	29138412
Periventricular Nodular Heterotopia	Associate	34711653
Short Rib Polydactyly Syndrome	Associate	29138412

KIAA0753 (KIAA0753)