Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84070
Gene name Gene Name - the full gene name approved by the HGNC.
Family with sequence similarity 186 member B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FAM186B
Synonyms (NCBI Gene) Gene synonyms aliases
C12orf25
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.12
Summary Summary of gene provided in NCBI Entrez Gene.
This gene product is a member of the FAM186 family, however, its exact function is not known. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs549662742 T>C Likely-pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT982465 hsa-miR-185 CLIP-seq
MIRT982466 hsa-miR-2110 CLIP-seq
MIRT982467 hsa-miR-3150a-3p CLIP-seq
MIRT982468 hsa-miR-3175 CLIP-seq
MIRT982469 hsa-miR-4306 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0032991 Component Protein-containing complex IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
UniProt ID Q8IYM0
Protein name Protein FAM186B
Family and domains
Sequence
MEKDDPPQLVTPTSVKAIILRIEAAQLTRAQEDISTQLSDILDNVNCVINRFQEELGYDL
KENAKSQQRDPKGKKRFILLEKIASFSKDAMMKEKHLYDILRWLGDWGDTLTYEIGPRKS
EEEAAALDEWIEVTEKVLPLSLIATKRGIESLTALCSTLIEGQKKRSQVSKRTFWQGWQG
RSPQTSPSHPQPLSPEQMLQDQHTMNTKASEVTSMLQELLDSTMFSKGEVRAIRYMATVV
ENLNKALILQHKENRSLETKYRHLQMQATKELSSQRLHFQQFMEVLESRRDALLKQVEIL
GGRYHDLLLMKQALEFQLKKAQNATGQAEDLAEVSVDSPGPSERETLPRKETVMEESQQE
PMKEEQLFSPLPPSPMAMIRDSGAIAAGHQPLSTMTVRSRVADVFGSKDTESLEPVLLPL
VDRRFPKKWERPVAESLGHKDKDQEDYFQKGGLQIKFHCSKQLSLESSRQVTSESQEEPW
EEEFGREMRRQLWLEEEEMWQQRQKKWALLEQEHQEKLRQWNLEDLAREQQRRWVQLEKE
QESPRREPEQLGEDVERRIFTPTSRWRDLEKAELSLVPAPSRTQSAHQSRRPHLPMSPST
QQPALGKQRPMSSVEFTYRPRTRRVPTKPKKSASFPVTGTSIRRLTWPSLQISPANIKKK
VYHMDMEAQRKNLQLLSEESELRLPHYLRSKALELTTTTMELGALRLQYLCHKYIFYRRL
QSLRQEAINHVQIMKETEASYKAQNLYIFLENIDRLQSLRLQAWTDKQKGLEEKHRECLS
SMVTMFPKLQLEWNVHLNIPEVTSPKPKKCKLPAASPRHIRPSGPTYKQPFLSRHRACVP
LQMARQQGKQMEAVWKTEVASSSYAIEKKTPASLPRDQLRGHPDIPRLLTLDV
Sequence length 893
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Nephronophthisis nephronophthisis rs549662742 N/A
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Ciliopathies Associate 26489029
Oropharyngeal Neoplasms Associate 26932277