INSY2_HUMAN
ID INSY2_HUMAN Reviewed; 479 AA.
AC Q6ZSG2; B2RNT4; B7ZME7;
DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 113.
DE RecName: Full=Inhibitory synaptic factor 2A {ECO:0000305};
DE Short=InSyn2 {ECO:0000305};
GN Name=INSYN2A {ECO:0000312|HGNC:HGNC:33859};
GN Synonyms=C10orf141, FAM196A, INSYN2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Thalamus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Component of the protein machinery at the inhibitory
CC synapses, probably acting as a scaffold. Inhibitory synapses dampen
CC neuronal activity through postsynaptic hyperpolarization. This synaptic
CC inhibition is fundamental for the functioning of the central nervous
CC system, shaping and orchestrating the flow of information through
CC neuronal networks to generate a precise neural code.
CC {ECO:0000250|UniProtKB:Q3USH1}.
CC -!- SUBUNIT: Interacts with GPHN. {ECO:0000250|UniProtKB:Q3USH1}.
CC -!- INTERACTION:
CC Q6ZSG2; Q9BYV9: BACH2; NbExp=3; IntAct=EBI-12146621, EBI-1642333;
CC Q6ZSG2; O75031: HSF2BP; NbExp=3; IntAct=EBI-12146621, EBI-7116203;
CC Q6ZSG2; Q05BL1: TP53BP2; NbExp=3; IntAct=EBI-12146621, EBI-11952721;
CC -!- SUBCELLULAR LOCATION: Postsynaptic density
CC {ECO:0000250|UniProtKB:Q3USH1}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6ZSG2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZSG2-2; Sequence=VSP_056622;
CC -!- SIMILARITY: Belongs to the INSYN2 family. {ECO:0000305}.
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DR EMBL; AK127465; BAC86991.1; -; mRNA.
DR EMBL; AL390920; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC131825; AAI31826.1; -; mRNA.
DR EMBL; BC137112; AAI37113.1; -; mRNA.
DR EMBL; BC144478; AAI44479.1; -; mRNA.
DR CCDS; CCDS31312.1; -. [Q6ZSG2-1]
DR RefSeq; NP_001034851.1; NM_001039762.2. [Q6ZSG2-1]
DR RefSeq; XP_005252751.1; XM_005252694.3. [Q6ZSG2-1]
DR RefSeq; XP_016872026.1; XM_017016537.1. [Q6ZSG2-1]
DR RefSeq; XP_016872027.1; XM_017016538.1. [Q6ZSG2-1]
DR RefSeq; XP_016872028.1; XM_017016539.1. [Q6ZSG2-1]
DR RefSeq; XP_016872029.1; XM_017016540.1. [Q6ZSG2-1]
DR RefSeq; XP_016872030.1; XM_017016541.1. [Q6ZSG2-1]
DR RefSeq; XP_016872031.1; XM_017016542.1. [Q6ZSG2-1]
DR AlphaFoldDB; Q6ZSG2; -.
DR SMR; Q6ZSG2; -.
DR BioGRID; 568370; 41.
DR IntAct; Q6ZSG2; 33.
DR STRING; 9606.ENSP00000429763; -.
DR iPTMnet; Q6ZSG2; -.
DR PhosphoSitePlus; Q6ZSG2; -.
DR BioMuta; FAM196A; -.
DR DMDM; 74711413; -.
DR jPOST; Q6ZSG2; -.
DR MassIVE; Q6ZSG2; -.
DR PaxDb; Q6ZSG2; -.
DR PeptideAtlas; Q6ZSG2; -.
DR PRIDE; Q6ZSG2; -.
DR ProteomicsDB; 68217; -. [Q6ZSG2-1]
DR ProteomicsDB; 7257; -.
DR Antibodypedia; 48856; 8 antibodies from 4 providers.
DR DNASU; 642938; -.
DR Ensembl; ENST00000424811.2; ENSP00000428730.1; ENSG00000188916.9. [Q6ZSG2-2]
DR Ensembl; ENST00000522781.6; ENSP00000429763.1; ENSG00000188916.9. [Q6ZSG2-1]
DR Ensembl; ENST00000614311.4; ENSP00000479733.1; ENSG00000188916.9. [Q6ZSG2-2]
DR GeneID; 642938; -.
DR KEGG; hsa:642938; -.
DR MANE-Select; ENST00000522781.6; ENSP00000429763.1; NM_001039762.3; NP_001034851.1.
DR UCSC; uc001ljv.2; human. [Q6ZSG2-1]
DR CTD; 642938; -.
DR GeneCards; INSYN2A; -.
DR HGNC; HGNC:33859; INSYN2A.
DR HPA; ENSG00000188916; Tissue enriched (brain).
DR neXtProt; NX_Q6ZSG2; -.
DR OpenTargets; ENSG00000188916; -.
DR PharmGKB; PA165548646; -.
DR VEuPathDB; HostDB:ENSG00000188916; -.
DR eggNOG; ENOG502QS3U; Eukaryota.
DR GeneTree; ENSGT00530000063787; -.
DR HOGENOM; CLU_050166_0_0_1; -.
DR InParanoid; Q6ZSG2; -.
DR OMA; CAEPCKN; -.
DR OrthoDB; 553132at2759; -.
DR PhylomeDB; Q6ZSG2; -.
DR TreeFam; TF333465; -.
DR PathwayCommons; Q6ZSG2; -.
DR SignaLink; Q6ZSG2; -.
DR BioGRID-ORCS; 642938; 8 hits in 1064 CRISPR screens.
DR ChiTaRS; FAM196A; human.
DR GenomeRNAi; 642938; -.
DR Pharos; Q6ZSG2; Tdark.
DR PRO; PR:Q6ZSG2; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q6ZSG2; protein.
DR Bgee; ENSG00000188916; Expressed in cortical plate and 99 other tissues.
DR Genevisible; Q6ZSG2; HS.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR GO; GO:0014069; C:postsynaptic density; ISS:UniProtKB.
DR GO; GO:0060080; P:inhibitory postsynaptic potential; ISS:UniProtKB.
DR InterPro; IPR029337; INSYN2.
DR PANTHER; PTHR28682; PTHR28682; 1.
DR Pfam; PF15265; FAM196; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Phosphoprotein; Reference proteome;
KW Synapse.
FT CHAIN 1..479
FT /note="Inhibitory synaptic factor 2A"
FT /id="PRO_0000329446"
FT REGION 226..247
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 315..338
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 449..472
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 353..379
FT /evidence="ECO:0000255"
FT COMPBIAS 315..334
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 177
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q3USH1"
FT VAR_SEQ 396..419
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056622"
FT VARIANT 147
FT /note="A -> V (in dbSNP:rs11594560)"
FT /id="VAR_042679"
SQ SEQUENCE 479 AA; 52909 MW; 839D6E8DB895F308 CRC64;
MVSKDTGKCI LTTSESEVEP AACLALEMKY ALDPNRQIKK RNKALQVRFK DICEAQNEQR
DTQLSSGQLG EKREAKPVSC RAAYRKYMTV PARRSIPNVT KSTGVQTSPD LKKCYQTFPL
DRKKGNLKSL PAADPFKSQN NGFLTDAKEK NEAGPMEEAR PCGAGRVHKT TALVFHSNQH
MNTVDQPLGV NCTEPCKSPE PLSYGEAALQ NSTRPPSEEP DYQLLGRAKQ DRGRPNSEEP
APPALRRVFK TEVATVYAPA LSARAPEPGL SDSAAASQWS LCPADDERRR ATHLNGLQAP
SETALACSPP MQCLSPECSE QPSQTHTPPG LGNQPSPTAV AAGEECQRIV PHTEVVDLKA
QLQMMENLIS SSQETIKVLL GVIQELEKGE AHREGLSYRT GQDTANCDTC RNSACIIYSV
ELDFKQQEDK LQPVLRKLHP IEETQVIPSP YSQETYSSTP KQKSKTESKK HGRWKLWFL
