Gene: TANC2

Basic information

Tag Content
Uniprot ID Q9HCD6; Q9HAC3; Q9NW88; Q9NXY9; Q9ULS2;
Entrez ID 26115
Genbank protein ID CAB92314.1; BAB13462.2; BAA86462.2;
Genbank nucleotide ID NM_025185.3; XM_005257203.4;
Ensembl protein ID ENSP00000387593; ENSP00000374171;
Ensembl nucleotide ID ENSG00000170921
Gene name Protein TANC2
Gene symbol TANC2
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Manually collected
Reference 27033726
Functional description Scaffolding protein in the dendritic spines which acts as immobile postsynaptic posts able to recruit KIF1A-driven dense core vesicles to dendritic spines.
Sequence
MFRNSLKMLL TGGKSSRKNR SSDGGSEEPP DRRQSSVDSR QSRSGQGGIS TESDCAFEPD 60
YAVPPLPVSE GDAEQELGPP PSVDEAANTL MTRLGFLLGE KVTEVQPGDQ YSMEVQDENQ 120
TSAITQRISP CSTLTSSTAS PPASSPCSTL PPISTNATAK DCSYGAVTSP TSTLESRDSG 180
IIATLTSYSE NVERTKYAGE SSKELGSGGN IKPWQSQKSS MDSCLYRVDE NMTASTYSLN 240
KIPERNLETV LSQSVQSIPL YLMPRPNSVA ATSSAHLEDL AYLDEQRHTP LRTSLRMPRQ 300
SMGGARTQQD LRVRFAPYRP PDISLKPLLF EVPSITTESV FVGRDWVFHE IDAQLQSSNA 360
SVNQGVVIVG NIGFGKTAII SRLVALSCHG TRMRQIASDS PHASPKHVDA NRELPLTQPP 420
SAHSSITSGS CPGTPEMRRR QEEAMRRLAS QVVAYHYCQA DNAYTCLVPE FVHNVAALLC 480
RSPQLTAYRE QLLREPHLQS MLSLRSCVQD PMASFRRGVL EPLENLHKER KIPDEDFIIL 540
IDGLNEAEFH KPDYGDTIVS FLSKMIGKFP SWLKLIVTVR TSLQEITKLL PFHRIFLDRL 600
EENEAIDQDL QAYILHRIHS SSEIQNNISL NGKMDNTTFG KLSSHLKTLS QGSYLYLKLT 660
FDLIEKGYLV LKSSSYKVVP VSLSEVYLLQ CNMKFPTQSS FDRVMPLLNV AVASLHPLTD 720
EHIFQAINAG SIEGTLEWED FQQRMENLSM FLIKRRDMTR MFVHPSFREW LIWREEGEKT 780
KFLCDPRSGH TLLAFWFSRQ EGKLNRQQTI ELGHHILKAH IFKGLSKKVG VSSSILQGLW 840
ISYSTEGLSM ALASLRNLYT PNIKVSRLLI LGGANINYRT EVLNNAPILC VQSHLGYTEM 900
VALLLEFGAN VDASSESGLT PLGYAAAAGY LSIVVLLCKK RAKVDHLDKN GQCALVHAAL 960
RGHLEVVKFL IQCDWTMAGQ QQGVFKKSHA IQQALIAAAS MGYTEIVSYL LDLPEKDEEE 1020
VERAQINSFD SLWGETALTA AAGRGKLEVC RLLLEQGAAV AQPNRRGAVP LFSTVRQGHW 1080
QIVDLLLTHG ADVNMADKQG RTPLMMAASE GHLGTVDFLL AQGASIALMD KEGLTALSWA 1140
CLKGHLSVVR SLVDNGAATD HADKNGRTPL DLAAFYGDAE VVQFLVDHGA MIEHVDYSGM 1200
RPLDRAVGCR NTSVVVTLLK KGAKIGPATW AMATSKPDIM IILLSKLMEE GDMFYKKGKV 1260
KEAAQRYQYA LKKFPREGFG EDLKTFRELK VSLLLNLSRC RRKMNDFGMA EEFATKALEL 1320
KPKSYEAYYA RARAKRSSRQ FAAALEDLNE AIKLCPNNRE IQRLLLRVEE ECRQMQQPQQ 1380
PPPPPQPQQQ LPEEAEPEPQ HEDIYSVQDI FEEEYLEQDV ENVSIGLQTE ARPSQGLPVI 1440
QSPPSSPPHR DSAYISSSPL GSHQVFDFRS SSSVGSPTRQ TYQSTSPALS PTHQNSHYRP 1500
SPPHTSPAHQ GGSYRFSPPP VGGQGKEYPS PPPSPLRRGP QYRASPPAES MSVYRSQSGS 1560
PVRYQQETSV SQLPGRPKSP LSKMAQRPYQ MPQLPVAVPQ QGLRLQPAKA QIVRSNQPSP 1620
AVHSSTVIPT GAYGQVAHSM ASKYQSSQGD IGVSQSRLVY QGSIGGIVGD GRPVQHVQAS 1680
LSAGAICQHG GLTKEDLPQR PSSAYRGGVR YSQTPQIGRS QSASYYPVCH SKLDLERSSS 1740
QLGSPDVSHL IRRPISVNPN EIKPHPPTPR PLLHSQSVGL RFSPSSNSIS STSNLTPTFR 1800
PSSSIQQMEI PLKPAYERSC DELSPVSPTQ GGYPSEPTRS RTTPFMGIID KTARTQQYPH 1860
LHQQNRTWAV SSVDTVLSPT SPGNLPQPES FSPPSSISNI AFYNKTNNAQ NGHLLEDDYY 1920
SPHGMLANGS RGDLLERVSQ ASSYPDVKVA RTLPVAQAYQ DNLYRQLSRD SRQGQTSPIK 1980
PKRPFVESNV

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologTANC2F1PAF9Canis lupus familiarisPredictionMore>>
1:1 orthologTANC2A0A452DN91Capra hircusPredictionMore>>
1:1 orthologTANC226115Q9HCD6Homo sapiensPublicationMore>>
1:1 orthologTanc277097A2A690Mus musculusPredictionMore>>
1:1 orthologTANC2454784H2QDM5Pan troglodytesPredictionMore>>
1:1 orthologTANC2F1RRV1Sus scrofaPredictionMore>>
1:1 orthologTanc2303599A0A0G2K9J0Rattus norvegicusPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
TANC2rs1588366Genotyping and GWAS27033726

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence

GO:Biological Process

GO ID GO Term Evidence
GO:0001701 in utero embryonic developmentIEA
GO:0060998 regulation of dendritic spine developmentISS
GO:0061001 regulation of dendritic spine morphogenesisISS
GO:0099519 dense core granule cytoskeletal transportISS

GO:Cellular Component

GO ID GO Term Evidence
GO:0030054 cell junctionIEA
GO:0030424 axonIEA
GO:0043197 dendritic spineIDA

Reactome Pathway

Reactome ID Reactome Term Evidence

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0025 Alternative splicing
KW-0040 ANK repeat
KW-0965 Cell junction
KW-0966 Cell projection
KW-0225 Disease mutation
KW-0325 Glycoprotein
KW-0488 Methylation
KW-0597 Phosphoprotein
KW-0621 Polymorphism
KW-1185 Reference proteome
KW-0677 Repeat
KW-0770 Synapse
KW-0802 TPR repeat

Interpro

InterPro ID InterPro Term
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR027417 P-loop_NTPase
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat

PROSITE

PROSITE ID PROSITE Term
PS50297 ANK_REP_REGION
PS50088 ANK_REPEAT
PS50005 TPR
PS50293 TPR_REGION

Pfam

Pfam ID Pfam Term
PF00023 Ank
PF12796 Ank_2
PF13181 TPR_8

Protein-protein interaction

Protein-miRNA interaction