Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9851
Gene name Gene Name - the full gene name approved by the HGNC.
KIAA0753
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KIAA0753
Synonyms (NCBI Gene) Gene synonyms aliases
JBTS38, MNR, OFIP, SRTD21
Disease Acronyms (UniProt) Disease acronyms from UniProt database
JBTS38, SRTD21
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 26297806, 26638075, 26871637, 32296183
GO:0005813 Component Centrosome IDA 21399614
GO:0005814 Component Centriole IEA
GO:0005829 Component Cytosol IDA
GO:0007099 Process Centriole replication IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617112 29110 ENSG00000198920
Protein
UniProt ID 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
EF
LEAAT
Sequence length 967
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Cerebellar vermis agenesis Familial aplasia of the vermis rs201108965, rs13297509, rs121918129, rs121918130, rs121918197, rs121918198, rs121918199, rs121918203, rs121918204, rs145665129, rs121434348, rs121434349, rs267606641, rs201391050, rs387907003
View all (121 more)
29138412, 28220259, 26643951
Congenital heart defects Congenital Heart Defects rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321
View all (13 more)
Unknown
Disease term Disease name Evidence References Source
Orofaciodigital Syndrome orofaciodigital syndrome type 6 GenCC
Associations from Text Mining
Disease Name Relationship Type References
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