INSM2_HUMAN
ID INSM2_HUMAN Reviewed; 566 AA.
AC Q96T92; A1L432; J9Y024; Q8N8K7; Q96Q84;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 146.
DE RecName: Full=Insulinoma-associated protein 2;
DE AltName: Full=Zinc finger protein IA-6;
GN Name=INSM2; Synonyms=IA6; ORFNames=Nbla106;
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 [MRNA], AND VARIANT GLY-206.
RA Cai T., Notkins A.L.;
RT "A novel insulinoma-associated gene IA-6 with C2H2-type zinc finger motifs
RT expressed in neuroendocrine tissues.";
RL Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT GLY-206.
RA Halford S., Broadgate S.L.;
RT "Insm2 is expressed in the developing mammalian retina.";
RL Submitted (JUL-2012) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT GLY-206.
RC TISSUE=Neuroblastoma;
RX PubMed=12880961; DOI=10.1016/s0304-3835(03)00085-5;
RA Ohira M., Morohashi A., Nakamura Y., Isogai E., Furuya K., Hamano S.,
RA Machida T., Aoyama M., Fukumura M., Miyazaki K., Suzuki Y., Sugano S.,
RA Hirato J., Nakagawara A.;
RT "Neuroblastoma oligo-capping cDNA project: toward the understanding of the
RT genesis and biology of neuroblastoma.";
RL Cancer Lett. 197:63-68(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT GLY-206.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT GLY-206.
RC TISSUE=Brain;
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).
RN [8]
RP DEVELOPMENTAL STAGE, AND TISSUE SPECIFICITY.
RX PubMed=21343251; DOI=10.1210/en.2010-1065;
RA Cai T., Chen X., Wang R., Xu H., You Y., Zhang T., Lan M.S., Notkins A.L.;
RT "Expression of insulinoma-associated 2 (INSM2) in pancreatic islet cells is
RT regulated by the transcription factors Ngn3 and NeuroD1.";
RL Endocrinology 152:1961-1969(2011).
CC -!- FUNCTION: May function as a growth suppressor or tumor suppressor in
CC liver cells and in certain neurons. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Expressed in heart, liver, skeletal muscle, kidney
CC and pancreas, and, to a lesser extent, in brain, lung and spleen. In
CC the pancreas, expressed in islet cells, including insulin- and
CC glucagon-producing alpha- and beta-cells, but not in acinar cells (at
CC protein level). Detected in adrenal glands, particularly in the deeper
CC layer of the cortex (at protein level). {ECO:0000269|PubMed:21343251}.
CC -!- DEVELOPMENTAL STAGE: Expressed in the islet-like cells of the
CC developing pancreas and epithelial cells of the duodenum from
CC gestational weeks 8 to 20 (at protein level).
CC {ECO:0000269|PubMed:21343251}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAK49393.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF260323; AAK49393.1; ALT_FRAME; mRNA.
DR EMBL; JX403968; AFS33107.1; -; mRNA.
DR EMBL; AB037912; BAB69042.1; -; mRNA.
DR EMBL; AK096639; BAC04830.1; -; mRNA.
DR EMBL; AL160231; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471078; EAW65872.1; -; Genomic_DNA.
DR EMBL; BC130377; AAI30378.1; -; mRNA.
DR EMBL; BC130379; AAI30380.1; -; mRNA.
DR CCDS; CCDS9657.1; -.
DR RefSeq; NP_115983.3; NM_032594.3.
DR AlphaFoldDB; Q96T92; -.
DR BioGRID; 124201; 3.
DR IntAct; Q96T92; 1.
DR STRING; 9606.ENSP00000306523; -.
DR iPTMnet; Q96T92; -.
DR PhosphoSitePlus; Q96T92; -.
DR BioMuta; INSM2; -.
DR DMDM; 296439326; -.
DR MassIVE; Q96T92; -.
DR PaxDb; Q96T92; -.
DR PeptideAtlas; Q96T92; -.
DR PRIDE; Q96T92; -.
DR ProteomicsDB; 78217; -.
DR Antibodypedia; 23212; 77 antibodies from 19 providers.
DR DNASU; 84684; -.
DR Ensembl; ENST00000307169.4; ENSP00000306523.3; ENSG00000168348.4.
DR GeneID; 84684; -.
DR KEGG; hsa:84684; -.
DR MANE-Select; ENST00000307169.4; ENSP00000306523.3; NM_032594.4; NP_115983.3.
DR UCSC; uc001wth.1; human.
DR CTD; 84684; -.
DR DisGeNET; 84684; -.
DR GeneCards; INSM2; -.
DR HGNC; HGNC:17539; INSM2.
DR HPA; ENSG00000168348; Group enriched (brain, retina).
DR MIM; 614027; gene.
DR neXtProt; NX_Q96T92; -.
DR OpenTargets; ENSG00000168348; -.
DR PharmGKB; PA134899231; -.
DR VEuPathDB; HostDB:ENSG00000168348; -.
DR eggNOG; KOG3993; Eukaryota.
DR GeneTree; ENSGT00940000162391; -.
DR HOGENOM; CLU_033476_1_0_1; -.
DR InParanoid; Q96T92; -.
DR OMA; HLQARDS; -.
DR OrthoDB; 1306883at2759; -.
DR PhylomeDB; Q96T92; -.
DR TreeFam; TF320538; -.
DR PathwayCommons; Q96T92; -.
DR SignaLink; Q96T92; -.
DR BioGRID-ORCS; 84684; 18 hits in 1089 CRISPR screens.
DR GenomeRNAi; 84684; -.
DR Pharos; Q96T92; Tbio.
DR PRO; PR:Q96T92; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q96T92; protein.
DR Bgee; ENSG00000168348; Expressed in Brodmann (1909) area 23 and 53 other tissues.
DR Genevisible; Q96T92; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0017053; C:transcription repressor complex; IBA:GO_Central.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0030182; P:neuron differentiation; IBA:GO_Central.
DR GO; GO:0010564; P:regulation of cell cycle process; IBA:GO_Central.
DR InterPro; IPR042972; INSM1/2.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR PANTHER; PTHR15065; PTHR15065; 1.
DR Pfam; PF00096; zf-C2H2; 2.
DR SMART; SM00355; ZnF_C2H2; 5.
DR SUPFAM; SSF57667; SSF57667; 2.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 4.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 3.
PE 1: Evidence at protein level;
KW Cytoplasm; DNA-binding; Metal-binding; Nucleus; Reference proteome; Repeat;
KW Transcription; Transcription regulation; Zinc; Zinc-finger.
FT CHAIN 1..566
FT /note="Insulinoma-associated protein 2"
FT /id="PRO_0000331576"
FT ZN_FING 263..283
FT /note="C2H2-type 1; atypical"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 291..313
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 426..448
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 470..492
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 525..548
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 1..20
FT /note="SNAG domain"
FT /evidence="ECO:0000250"
FT REGION 32..117
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 310..418
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 327..345
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 354..373
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 206
FT /note="D -> G (in dbSNP:rs1958260)"
FT /evidence="ECO:0000269|PubMed:12880961,
FT ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1,
FT ECO:0000269|Ref.2, ECO:0000269|Ref.6"
FT /id="VAR_070885"
FT CONFLICT 198
FT /note="E -> G (in Ref. 3; BAB69042)"
FT /evidence="ECO:0000305"
FT CONFLICT 330
FT /note="G -> E (in Ref. 4; BAC04830)"
FT /evidence="ECO:0000305"
FT CONFLICT 390
FT /note="L -> V (in Ref. 1; AAK49393)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 566 AA; 59491 MW; 3603B8ACC8920631 CRC64;
MPRGFLVKRT KRTGGLYRVR LAERVFPLLG PQGAPPFLEE APSASLPGAE RATPPTREEP
GKGLTAEAAR EQSGSPCRAA GVSPGTGGRE GAEWRAGGRE GPGPSPSPSP SPAKPAGAEL
RRAFLERCLS SPVSAESFPG GAAAVAAFSC SVAPAAAPTP GEQFLLPLRA PFPEPALQPD
PAPLSAALQS LKRAAGGERR GKAPTDCASG PAAAGIKKPK AMRKLSFADE VTTSPVLGLK
IKEEEPGAPS RGLGGSRTPL GEFICQLCKE QYADPFALAQ HRCSRIVRVE YRCPECDKVF
SCPANLASHR RWHKPRPAAA NAATVSSADG KPPSSSSSSS RDSGAIASFL AEGKENSRIE
RTADQHPQAR DSSGADQHPD SAPRQGLQVL THPEPPLPQG PYTEGVLGRR VPVPGSTSGG
RGSEIFVCPY CHKKFRRQAY LRKHLSTHEA GSARALAPGF GSERGAPLAF ACPLCGAHFP
TADIREKHRL WHAVREELLL PALAGAPPET SGPSGPSDGS AQQIFSCKHC PSTFFSSPGL
TRHINKCHPS ESRQVLLLQM PLRPGC
