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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
28
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autism spectrum disorder Likely pathogenic; Pathogenic rs1419550439, rs2045256930, rs2048464266 RCV001261843
RCV001261833
RCV001261835
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental delay Likely pathogenic; Pathogenic rs2048990416, rs2046750269, rs2048834387, rs2049017627 RCV001261841
RCV001261845
RCV001261836
RCV001261842
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy Likely pathogenic rs2046598826, rs2048834387 RCV001261834
RCV001261836
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES Likely pathogenic; Pathogenic rs2048988947 RCV001182006
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DYSLEXIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 24731980 Associate
★☆☆☆☆
Found in Text Mining only
Apraxias Apraxia Pubtator 29070031 Associate
★☆☆☆☆
Found in Text Mining only
Ataxia Ataxia Pubtator 29070031 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 24148822
★☆☆☆☆
Found in Text Mining only
Cleft Lip Cleft lip Pubtator 35191549 Associate
★☆☆☆☆
Found in Text Mining only
Cleft Palate Cleft palate Pubtator 35191549 Associate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 34861844, 35066241 Associate
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy GENOMICS_ENGLAND_DG 31616000
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy Epilepsy Pubtator 34861844, 35066241 Associate
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability Mental retardation GENOMICS_ENGLAND_DG 31616000
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)