Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51199
Gene name Gene Name - the full gene name approved by the HGNC.
Ninein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NIN
Synonyms (NCBI Gene) Gene synonyms aliases
SCKL7
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SCKL7
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes one of the proteins important for centrosomal function. This protein is important for positioning and anchoring the microtubules minus-ends in epithelial cells. Localization of this protein to the centrosome requires three leucine zipper
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs41313507 G>A,C Conflicting-interpretations-of-pathogenicity, uncertain-significance Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs78280523 A>T Conflicting-interpretations-of-pathogenicity Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs187464517 T>C Pathogenic, likely-benign Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs373844676 G>A,T Likely-pathogenic Synonymous variant, genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs387907308 T>C,G Pathogenic Coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019292 hsa-miR-148b-3p Microarray 17612493
MIRT019688 hsa-miR-375 Microarray 20215506
MIRT002535 hsa-miR-373-3p Microarray 15685193
MIRT020128 hsa-miR-130b-3p Sequencing 20371350
MIRT021379 hsa-miR-9-5p Microarray 17612493
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000242 Component Pericentriolar material IBA 21873635
GO:0000242 Component Pericentriolar material IDA 8834802
GO:0000922 Component Spindle pole IMP 18331714
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 11004522, 12927815, 15147888, 16154161, 17139249, 20596670, 28422092
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608684 14906 ENSG00000100503
Protein
UniProt ID Q8N4C6
Protein name Ninein (hNinein) (Glycogen synthase kinase 3 beta-interacting protein) (GSK3B-interacting protein)
Protein function Centrosomal protein required in the positioning and anchorage of the microtubule minus-end in epithelial cells (PubMed:15190203, PubMed:23386061). May also act as a centrosome maturation factor (PubMed:11956314). May play a role in microtubule n
Family and domains
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highly expressed in heart and skeletal muscle. Isoform 1 is more expressed than isoform 5. {ECO:0000269|PubMed:11004522, ECO:0000269|PubMed:11162463}.
Sequence
MDEVEQDQHEARLKELFDSFDTTGTGSLGQEELTDLCHMLSLEEVAPVLQQTLLQDNLLG
RVHFDQFKEALILILSRTLSNEEHFQEPDCSLEAQPKYVRGGKRYGRRSLPEFQESVEEF
PEVTVIEPLDEEARPSHIPAGDCSEHWKTQRSEEYEAEGQLRFWNPDDLNASQSGSSPPQ
DWIEEKLQEVCEDLGITRDGHLNRKKLVSICEQYGLQNVDGEMLEEVFHNLDPDGTMSVE
DFFYGLFKNGKSLTPSASTPYRQLKRHLSMQSFDESGRRTTTSSAMTSTIGFRVFSCLDD
GMGHASVERILDTWQEEGIENSQEILKALDFSLDGNINLTELTLALENELLVTKNSIHQA
ALASFKAEIRHLLERVDQVVREKEKLRSDLDKAEKLKSLMASEVDDHHAAIERRNEYNLR
KLDEEYKERIAALKNELRKEREQILQQAGKQRLELEQEIEKAKTEENYIRDRLALSLKEN
SRLENELLENAEKLAEYENLTNKLQRNLENVLAEKFGDLDPSSAEFFLQEERLTQMRNEY
ERQCRVLQDQVDELQSELEEYRAQGRVLRLPLKNSPSEEVEANSGGIEPEHGLGSEECNP
LNMSIEAELVIEQMKEQHHRDICCLRLELEDKVRHYEKQLDETVVSCKKAQENMKQRHEN
ETHTLEKQISDLKNEIAELQGQAAVLKEAHHEATCRHEEEKKQLQVKLEEEKTHLQEKLR
LQHEMELKARLTQAQASFEREREGLQSSAWTEEKVRGLTQELEQFHQEQLTSLVEKHTLE
KEELRKELLEKHQRELQEGREKMETECNRRTSQIEAQFQSDCQKVTERCESALQSLEGRY
RQELKDLQEQQREEKSQWEFEKDELTQECAEAQELLKETLKREKTTSLVLTQEREMLEKT
YKEHLNSMVVERQQLLQDLEDLRNVSETQQSLLSDQILELKSSHKRELREREEVLCQAGA
SEQLASQRLERLEMEHDQERQEMMSKLLAMENIHKATCETADRERAEMSTEISRLQSKIK
EMQQATSPLSMLQSGCQVIGEEEVEGDGALSLLQQGEQLLEENGDVLLSLQRAHEQAVKE
NVKMATEISRLQQRLQKLEPGLVMSSCLDEPATEFFGNTAEQTEQFLQQNRTKQVEGVTR
RHVLSDLEDDEVRDLGSTGTSSVQRQEVKIEESEASVEGFSELENSEETRTESWELKNQI
SQLQEQLMMLCADCDRASEKKQDLLFDVSVLKKKLKMLERIPEASPKYKLLYEDVSREND
CLQEELRMMETRYDEALENNKELTAEVFRLQDELKKMEEVTETFLSLEKSYDEVKIENEG
LNVLVLRLQGKIEKLQESVVQRCDCCLWEASLENLEIEPDGNILQLNQTLEECVPRVRSV
HHVIEECKQENQYLEGNTQLLEKVKAHEIAWLHGTIQTHQERPRVQNQVILEENTTLLGF
QDKHFQHQATIAELELEKTKLQELTRKLKERVTILVKQKDVLSHGEKEEELKAMMHDLQI
TCSEMQQKVELLRYESEKLQQENSILRNEITTLNEEDSISNLKLGTLNGSQEEMWQKTET
VKQENAAVQKMVENLKKQISELKIKNQQLDLENTELSQKNSQNQEKLQELNQRLTEMLCQ
KEKEPGNSALEEREQEKFNLKEELERCKVQSSTLVSSLEAELSEVKIQTHIVQQENHLLK
DELEKMKQLHRCPDLSDFQQKISSVLSYNEKLLKEKEALSEELNSCVDKLAKSSLLEHRI
ATMKQEQKSWEHQSASLKSQLVASQEKVQNLEDTVQNVNLQMSRMKSDLRVTQQEKEALK
QEVMSLHKQLQNAGGKSWAPEIATHPSGLHNQQKRLSWDKLDHLMNEEQQLLWQENERLQ
TMVQNTKAELTHSREKVRQLESNLLPKHQKHLNPSGTMNPTEQEKLSLKRECDQFQKEQS
PANRKVSQMNSLEQELETIHLENEGLKKKQVKLDEQLMEMQHLRSTATPSPSPHAWDLQL
LQQQACPMVPREQFLQLQRQLLQAERINQHLQEELENRTSETNTPQGNQEQLVTVMEERM
IEVEQKLKLVKRLLQEKVNQLKEQVSLPGHLCSPTSHSSFNSSFTSLYCH
Sequence length 2090
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
30787463
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Mental retardation Severe intellectual disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Microcephalic primordial dwarfism Microcephalic primordial dwarfism, Dauber type rs1057519017, rs397514642, rs1554011754, rs797046124, rs780270096, rs864321621, rs864321620, rs775277800, rs1057519297, rs749190523, rs753460205, rs750946801, rs1060499762, rs1131691284, rs761208307
View all (11 more)
Unknown
Disease term Disease name Evidence References Source
Schizophrenia Schizophrenia GWAS
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Ischemic Stroke Ischemic Stroke GWAS
Associations from Text Mining
Disease Name Relationship Type References
Brain Neoplasms Associate 15147888
Breast Neoplasms Associate 20508983
Chronic Periodontitis Associate 23459936, 25056994, 30765789, 36360171
Developmental Disabilities Associate 22933543
Glioma Associate 20529377
Kidney Neoplasms Associate 25420906
Myeloproliferative Disorders Associate 15087377
Neoplasms Associate 37522128
Pancreatic Neoplasms Associate 20056645
Seckel syndrome 1 Associate 22933543