Gene Gene information from NCBI Gene database.
Entrez ID 26115
Gene name Tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2
Gene symbol TANC2
Synonyms (NCBI Gene)
IDDALDSROLSArols
Chromosome 17
Chromosome location 17q23.2-q23.3
miRNA miRNA information provided by mirtarbase database.
1185
miRTarBase ID miRNA Experiments Reference
MIRT017079 hsa-miR-335-5p Microarray 18185580
MIRT049132 hsa-miR-92a-3p qRT-PCR 23622248
MIRT049132 hsa-miR-92a-3p CLASH 23622248
MIRT044171 hsa-miR-99b-5p CLASH 23622248
MIRT1410341 hsa-miR-103b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0030424 Component Axon IEA
GO:0042995 Component Cell projection IEA
GO:0043197 Component Dendritic spine IBA
GO:0043197 Component Dendritic spine IDA 30021165
GO:0043197 Component Dendritic spine IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615047 30212 ENSG00000170921
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HCD6
Protein name Protein TANC2 (Tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 2)
Protein function Scaffolding protein in the dendritic spines which acts as immobile postsynaptic posts able to recruit KIF1A-driven dense core vesicles to dendritic spines.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 888 979 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 942 1030 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 975 1066 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 994 1097 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 1062 1130 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 1137 1228 Ankyrin repeats (3 copies) Repeat
PF13181 TPR_8 1291 1324 Tetratricopeptide repeat Repeat
PF13181 TPR_8 1325 1358 Tetratricopeptide repeat Repeat
Sequence
MFRNSLKMLLTGGKSSRKNRSSDGGSEEPPDRRQSSVDSRQSRSGQGGISTESDCAFEPD
YAVPPLPVSEGDAEQELGPPPSVDEAANTLMTRLGFLLGEKVTEVQPGDQYSMEVQDENQ
TSAITQRISPCSTLTSSTASPPASSPCSTLPPISTNATAKDCSYGAVTSPTSTLESRDSG
IIATLTSYSENVERTKYAGESSKELGSGGNIKPWQSQKSSMDSCLYRVDENMTASTYSLN
KIPERNLETVLSQSVQSIPLYLMPRPNSVAATSSAHLEDLAYLDEQRHTPLRTSLRMPRQ
SMGGARTQQDLRVRFAPYRPPDISLKPLLFEVPSITTESVFVGRDWVFHEIDAQLQSSNA
SVNQGVVIVGNIGFGKTAIISRLVALSCHGTRMRQIASDSPHASPKHVDANRELPLTQPP
SAHSSITSGSCPGTPEMRRRQEEAMRRLASQVVAYHYCQADNAYTCLVPEFVHNVAALLC
RSPQLTAYREQLLREPHLQSMLSLRSCVQDPMASFRRGVLEPLENLHKERKIPDEDFIIL
IDGLNEAEFHKPDYGDTIVSFLSKMIGKFPSWLKLIVTVRTSLQEITKLLPFHRIFLDRL
EENEAIDQDLQAYILHRIHSSSEIQNNISLNGKMDNTTFGKLSSHLKTLSQGSYLYLKLT
FDLIEKGYLVLKSSSYKVVPVSLSEVYLLQCNMKFPTQSSFDRVMPLLNVAVASLHPLTD
EHIFQAINAGSIEGTLEWEDFQQRMENLSMFLIKRRDMTRMFVHPSFREWLIWREEGEKT
KFLCDPRSGHTLLAFWFSRQEGKLNRQQTIELGHHILKAHIFKGLSKKVGVSSSILQGLW
ISYSTEGLSMALASLRNLYTPNIKVSRLLILGGANINYRTEVLNNAPILCVQSHLGYTEM
VALLLEFGANVDASSESGLTPLGYAAAAGYLSIVVLLCKKR
AKVDHLDKNGQCALVHAAL
RGHLEVVKFLIQCD
WTMAGQQQGVFKKSHAIQQALIAAASMGYTEIVSYLLDLPEKDEEE
VERAQINSFD
SLWGETALTAAAGRGKLEVCRLLLEQGAAVAQPNRRGAVPLFSTVRQGHW
QIVDLLLTHGADVNMAD
KQGRTPLMMAASEGHLGTVDFLLAQGASIALMD
KEGLTALSWA
CLKGHLSVVRSLVDNGAATDHADKNGRTPLDLAAFYGDAEVVQFLVDHGAMIEHVDYSGM
RPLDRAVGCRNTSVVVTLLKKGAKIGPA
TWAMATSKPDIMIILLSKLMEEGDMFYKKGKV
KEAAQRYQYALKKFPREGFGEDLKTFRELKVSLLLNLSRCRRKMNDFGMAEEFATKALEL
KPKS
YEAYYARARAKRSSRQFAAALEDLNEAIKLCPNNREIQRLLLRVEEECRQMQQPQQ
PPPPPQPQQQLPEEAEPEPQHEDIYSVQDIFEEEYLEQDVENVSIGLQTEARPSQGLPVI
QSPPSSPPHRDSAYISSSPLGSHQVFDFRSSSSVGSPTRQTYQSTSPALSPTHQNSHYRP
SPPHTSPAHQGGSYRFSPPPVGGQGKEYPSPPPSPLRRGPQYRASPPAESMSVYRSQSGS
PVRYQQETSVSQLPGRPKSPLSKMAQRPYQMPQLPVAVPQQGLRLQPAKAQIVRSNQPSP
AVHSSTVIPTGAYGQVAHSMASKYQSSQGDIGVSQSRLVYQGSIGGIVGDGRPVQHVQAS
LSAGAICQHGGLTKEDLPQRPSSAYRGGVRYSQTPQIGRSQSASYYPVCHSKLDLERSSS
QLGSPDVSHLIRRPISVNPNEIKPHPPTPRPLLHSQSVGLRFSPSSNSISSTSNLTPTFR
PSSSIQQMEIPLKPAYERSCDELSPVSPTQGGYPSEPTRSRTTPFMGIIDKTARTQQYPH
LHQQNRTWAVSSVDTVLSPTSPGNLPQPESFSPPSSISNIAFYNKTNNAQNGHLLEDDYY
SPHGMLANGSRGDLLERVSQASSYPDVKVARTLPVAQAYQDNLYRQLSRDSRQGQTSPIK
PKRPFVESNV
Sequence length 1990
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
169
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Likely pathogenic; Pathogenic rs1419550439, rs2045256930, rs2048464266 RCV001261843
RCV001261833
RCV001261835
Developmental delay Likely pathogenic; Pathogenic rs2048990416, rs2046750269, rs2048834387, rs2049017627 RCV001261841
RCV001261845
RCV001261836
RCV001261842
Epilepsy Likely pathogenic rs2046598826, rs2048834387 RCV001261834
RCV001261836
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES Likely pathogenic; Pathogenic rs2048988947 RCV001182006
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Lung cancer Benign rs117690040 RCV005912010
Malignant tumor of esophagus Benign rs117690040 RCV005912007
Melanoma Benign rs117690040 RCV005912009
Neurodevelopmental delay Uncertain significance rs2147151323 RCV002274431
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 24731980
Apraxias Associate 29070031
Ataxia Associate 29070031
Cleft Lip Associate 35191549
Cleft Palate Associate 35191549
Developmental Disabilities Associate 34861844, 35066241
Epilepsy Associate 34861844, 35066241
Learning Disabilities Associate 29070031
Lennox Gastaut Syndrome Associate 34861844, 35066241
Mental Disorders Associate 29070031