Gene Gene information from NCBI Gene database.
Entrez ID 85461
Gene name Tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1
Gene symbol TANC1
Synonyms (NCBI Gene)
ROLSBTANC
Chromosome 2
Chromosome location 2q24.2
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs264588 C>A,T Drug-response Intron variant, genic upstream transcript variant
rs264631 C>G Drug-response Intron variant, genic upstream transcript variant, genic downstream transcript variant
rs264651 A>G Drug-response Intron variant, genic upstream transcript variant
rs6432512 C>T Drug-response Genic upstream transcript variant, 5 prime UTR variant, intron variant
rs7582141 G>T Drug-response Genic upstream transcript variant, intron variant
miRNA miRNA information provided by mirtarbase database.
319
miRTarBase ID miRNA Experiments Reference
MIRT085871 hsa-miR-106b-5p HITS-CLIP 22473208
MIRT085867 hsa-miR-20a-5p HITS-CLIP 22473208
MIRT085871 hsa-miR-106b-5p HITS-CLIP 22473208
MIRT085866 hsa-miR-17-5p HITS-CLIP 22473208
MIRT085879 hsa-miR-20b-5p HITS-CLIP 22473208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 30126976
GO:0007520 Process Myoblast fusion IEA
GO:0008542 Process Visual learning IEA
GO:0014069 Component Postsynaptic density IEA
GO:0030425 Component Dendrite IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611397 29364 ENSG00000115183
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9C0D5
Protein name Protein TANC1 (Tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 1)
Protein function May be a scaffold component in the postsynaptic density.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 938 1030 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 1044 1142 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 1170 1241 Ankyrin repeats (3 copies) Repeat
Sequence
MLKAVLKKSREGGKGGKKEAGSDFGPETSPVLHLDHSADSPVSSLPTAEDTYRVSLAKGV
SMSLPSSPLLPRQSHLVQSRVNKKSPGPVRKPKYVESPRVPGDAVIMPFREVAKPTEPDE
HEAKADNEPSCSPAAQELLTRLGFLLGEGIPSATHITIEDKNETMCTALSQGISPCSTLT
SSTASPSTDSPCSTLNSCVSKTAANKSPCETISSPSSTLESKDSGIIATITSSSENDDRS
GSSLEWNKDGNLRLGVQKGVLHDRRADNCSPVAEEETTGSAESTLPKAESSAGDGPVPYS
QGSSSLIMPRPNSVAATSSTKLEDLSYLDGQRNAPLRTSIRLPWHNTAGGRAQEVKARFA
PYKPQDILLKPLLFEVPSITTDSVFVGRDWLFHQIEENLRNTELAENRGAVVVGNVGFGK
TAIISKLVALSCHGSRMRQIASNSPGSSPKTSDPTQDLHFTPLLSPSSSTSASSTAKTPL
GSISAENQRPREDAVKYLASKVVAYHYCQADNTYTCLVPEFVHSIAALLCRSHQLAAYRD
LLIKEPQLQSMLSLRSCVQDPVAAFKRGVLEPLTNLRNEQKIPEEEYIILIDGLNEAEFH
KPDYGDTLSSFITKIISKFPAWLKLIVTVRANFQEIISALPFVKLSLDDFPDNKDIHSDL
HAYVQHRVHSSQDILSNISLNGKADATLIGKVSSHLVLRSLGSYLYLKLTLDLFQRGHLV
IKSASYKVVPVSLSELYLLQCNMKFMTQSAFERALPILNVALASLHPMTDEQIFQAINAG
HIQGEQGWEDFQQRMDALSCFLIKRRDKTRMFCHPSFREWLVWRADGENTAFLCEPRNGH
ALLAFMFSRQEGKLNRQQTMELGHHILKAHIFKGLSKKTGISSSHLQALWIGYSTEGLSA
ALASLRNLYTPNVKVSRLLILGGANVNYRTEVLNNAPILCVQSHLGHEEVVTLLLEFGAC
LDGTSENGMTALCYAAAAGHMKLVCLLTKKGVRVDHLDKKGQCALVHSALRGHGDILQYL
LTCEWSPGPP
QPGTLRKSHALQQALTAAASMGHSSVVQCLLGMEKEHEVEVNGTDTLWGE
TALTAAAGRGKLEVCELLLGHGAAVSRTNRRGVPPLFCAARQGHWQIVRLLLERGCDVNL
SD
KQGRTPLMVAACEGHLSTVEFLLSKGAALSSLDKEGLSALSWACLKGHRAVVQYLVEE
GAAIDQTDKNGRTPLDLAAFYGDAETVLYLVEKGAVIEHVD
HSGMRPLDRAIGCRNTSVV
VALLRKGAKLGNAAWAMATSKPDILIILLQKLMEEGNVMYKKGKMKEAAQRYQYALRKFP
REGFGEDMRPFNELRVSLYLNLSRCRRKTNDFGMAEEFASKALELKPKSYEAFYARARAK
RNSRQFVAALADLQEAVKLCPTNQEVKRLLARVEEECKQLQRSQQQKQQGPLPAPLNDSE
NEEDTPTPGLSDHFHSEETEEEETSPQEESVSPTPRSQPSSSVPSSYIRNLQEGLQSKGR
PVSPQSRAGIGKSLREPVAQPGLLLQPSKQAQIVKTSQHLGSGQSAVRNGSMKVQISSQN
PPPSPMPGRIAATPAGSRTQHLEGTGTFTTRAGCGHFGDRLGPSQNVRLQCGENGPAHPL
PSKTKTTERLLSHSSVAVDAAPPNQGGLATCSDVRHPASLTSSGSSGSPSSSIKMSSSTS
SLTSSSSFSDGFKVQGPDTRIKDKVVTHVQSGTAEHRPRNTPFMGIMDKTARFQQQSNPP
SRSWHCPAPEGLLTNTSSAAGLQSANTEKPSLMQVGGYNNQAKTCSVSTLSASVHNGAQV
KELEESKCQIPVHSQENRITKTVSHLYQESISKQQPHISNEAHRSHLTAAKPKRSFIESN
V
Sequence length 1861
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Uncertain significance rs374498239 RCV001007814