Gene Gene information from NCBI Gene database.
Entrez ID 51199
Gene name Ninein
Gene symbol NIN
Synonyms (NCBI Gene)
SCKL7
Chromosome 14
Chromosome location 14q22.1
Summary 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.
6
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.
717
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000242 Component Pericentriolar material IBA
GO:0000242 Component Pericentriolar material IDA 8834802
GO:0000922 Component Spindle pole IMP 18331714
GO:0005509 Function Calcium ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608684 14906 ENSG00000100503
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
101
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Joubert syndrome 3 Likely pathogenic rs373844676 RCV005861189
Seckel syndrome 7 Pathogenic; Likely pathogenic rs747680111, rs2505891787, rs373844676, rs1310109020 RCV000194344
RCV003123516
RCV000991450
RCV001196155
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Benign; Likely benign rs61755037 RCV005889162
Familial cancer of breast Uncertain significance rs749221469, rs151233126 RCV005935062
RCV005908952
Gastric cancer Benign rs60052918 RCV005922111
Hepatocellular carcinoma Conflicting classifications of pathogenicity rs142733791 RCV005910555
Associations from Text MiningDisease associations identified through Pubtator
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