Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26115
Gene name Gene Name - the full gene name approved by the HGNC.
Tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TANC2
Synonyms (NCBI Gene) Gene synonyms aliases
IDDALDS, ROLSA, rols
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IDDALDS
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q23.2-q23.3
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001701 Process In utero embryonic development IEA
GO:0030424 Component Axon IEA
GO:0043197 Component Dendritic spine IDA 30021165
GO:0060998 Process Regulation of dendritic spine development ISS
GO:0061001 Process Regulation of dendritic spine morphogenesis ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615047 30212 ENSG00000170921
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Epilepsy Epilepsy rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670
View all (165 more)
31616000
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
31616000
Narcolepsy Narcolepsy rs104894574, rs387906655 19629137
Neurodevelopmental disorders Neurodevelopmental Disorders rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330
View all (2 more)
31616000, 28191889
Unknown
Disease term Disease name Evidence References Source
Cleft Lip With Or Without Cleft Palate Cleft Lip With Or Without Cleft Palate GWAS
Insomnia Insomnia GWAS
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Dyslexia Dyslexia GWAS
Associations from Text Mining
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