TM6S2_MOUSE
ID TM6S2_MOUSE Reviewed; 378 AA.
AC Q8R1J1; Q8BIG1;
DT 28-NOV-2006, integrated into UniProtKB/Swiss-Prot.
DT 28-NOV-2006, sequence version 2.
DT 25-MAY-2022, entry version 98.
DE RecName: Full=Transmembrane 6 superfamily member 2;
GN Name=Tm6sf2;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC STRAIN=C57BL/6J; TISSUE=Testis;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC STRAIN=FVB/N; TISSUE=Colon;
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 [3]
RP TISSUE SPECIFICITY, AND FUNCTION.
RX PubMed=24633158; DOI=10.1038/ng.2926;
RA Holmen O.L., Zhang H., Fan Y., Hovelson D.H., Schmidt E.M., Zhou W.,
RA Guo Y., Zhang J., Langhammer A., Lochen M.L., Ganesh S.K., Vatten L.,
RA Skorpen F., Dalen H., Zhang J., Pennathur S., Chen J., Platou C.,
RA Mathiesen E.B., Wilsgaard T., Njolstad I., Boehnke M., Chen Y.E.,
RA Abecasis G.R., Hveem K., Willer C.J.;
RT "Systematic evaluation of coding variation identifies a candidate causal
RT variant in TM6SF2 influencing total cholesterol and myocardial infarction
RT risk.";
RL Nat. Genet. 46:345-351(2014).
RN [4]
RP FUNCTION.
RX PubMed=24531328; DOI=10.1038/ng.2901;
RA Kozlitina J., Smagris E., Stender S., Nordestgaard B.G., Zhou H.H.,
RA Tybjaerg-Hansen A., Vogt T.F., Hobbs H.H., Cohen J.C.;
RT "Exome-wide association study identifies a TM6SF2 variant that confers
RT susceptibility to nonalcoholic fatty liver disease.";
RL Nat. Genet. 46:352-356(2014).
CC -!- FUNCTION: Regulator of liver fat metabolism influencing triglyceride
CC secretion and hepatic lipid droplet content. May function as sterol
CC isomerase. {ECO:0000250|UniProtKB:Q9BZW4, ECO:0000269|PubMed:24531328,
CC ECO:0000269|PubMed:24633158}.
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC {ECO:0000250|UniProtKB:Q9BZW4}; Multi-pass membrane protein
CC {ECO:0000255}. Endoplasmic reticulum-Golgi intermediate compartment
CC membrane {ECO:0000250|UniProtKB:Q9BZW4}; Multi-pass membrane protein
CC {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8R1J1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8R1J1-2; Sequence=VSP_021806;
CC -!- TISSUE SPECIFICITY: Highly expressed in the liver at both the mRNA and
CC protein levels. {ECO:0000269|PubMed:24633158}.
CC -!- SIMILARITY: Belongs to the TM6SF family. {ECO:0000305}.
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DR EMBL; AK077126; BAC36629.1; -; mRNA.
DR EMBL; BC024498; AAH24498.1; -; mRNA.
DR CCDS; CCDS22357.1; -. [Q8R1J1-2]
DR CCDS; CCDS80889.1; -. [Q8R1J1-1]
DR RefSeq; NP_853518.1; NM_181540.4.
DR AlphaFoldDB; Q8R1J1; -.
DR STRING; 10090.ENSMUSP00000046114; -.
DR MaxQB; Q8R1J1; -.
DR PaxDb; Q8R1J1; -.
DR PRIDE; Q8R1J1; -.
DR ProteomicsDB; 259565; -. [Q8R1J1-1]
DR ProteomicsDB; 259566; -. [Q8R1J1-2]
DR DNASU; 107770; -.
DR GeneID; 107770; -.
DR KEGG; mmu:107770; -.
DR CTD; 53345; -.
DR MGI; MGI:1933210; Tm6sf2.
DR eggNOG; ENOG502QRB2; Eukaryota.
DR InParanoid; Q8R1J1; -.
DR PhylomeDB; Q8R1J1; -.
DR TreeFam; TF333088; -.
DR BioGRID-ORCS; 107770; 3 hits in 71 CRISPR screens.
DR PRO; PR:Q8R1J1; -.
DR Proteomes; UP000000589; Unplaced.
DR RNAct; Q8R1J1; protein.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; ISS:UniProtKB.
DR GO; GO:0033116; C:endoplasmic reticulum-Golgi intermediate compartment membrane; ISS:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0042802; F:identical protein binding; ISO:MGI.
DR GO; GO:0055088; P:lipid homeostasis; IBA:GO_Central.
DR GO; GO:0019216; P:regulation of lipid metabolic process; ISS:UniProtKB.
DR InterPro; IPR033118; EXPERA.
DR PROSITE; PS51751; EXPERA; 2.
PE 2: Evidence at transcript level;
KW Alternative splicing; Endoplasmic reticulum; Membrane; Reference proteome;
KW Repeat; Transmembrane; Transmembrane helix.
FT CHAIN 1..378
FT /note="Transmembrane 6 superfamily member 2"
FT /id="PRO_0000262719"
FT TRANSMEM 10..30
FT /note="Helical; Name=1"
FT /evidence="ECO:0000255"
FT TRANSMEM 34..54
FT /note="Helical; Name=2"
FT /evidence="ECO:0000255"
FT TRANSMEM 63..83
FT /note="Helical; Name=3"
FT /evidence="ECO:0000255"
FT TRANSMEM 110..130
FT /note="Helical; Name=4"
FT /evidence="ECO:0000255"
FT TRANSMEM 140..160
FT /note="Helical; Name=5"
FT /evidence="ECO:0000255"
FT TRANSMEM 170..190
FT /note="Helical; Name=6"
FT /evidence="ECO:0000255"
FT TRANSMEM 219..239
FT /note="Helical; Name=7"
FT /evidence="ECO:0000255"
FT TRANSMEM 269..289
FT /note="Helical; Name=8"
FT /evidence="ECO:0000255"
FT TRANSMEM 291..311
FT /note="Helical; Name=9"
FT /evidence="ECO:0000255"
FT TRANSMEM 332..352
FT /note="Helical; Name=10"
FT /evidence="ECO:0000255"
FT DOMAIN 61..186
FT /note="EXPERA 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01087"
FT DOMAIN 217..351
FT /note="EXPERA 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01087"
FT VAR_SEQ 205..206
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_021806"
FT CONFLICT 194
FT /note="R -> Q (in Ref. 2; AAH24498)"
FT /evidence="ECO:0000305"
FT CONFLICT 213
FT /note="L -> F (in Ref. 1; BAC36629)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 378 AA; 43027 MW; ED5CE6F543F7548F CRC64;
MDIPPLAGRT VAMSFCALPV SYLLNQVSAF SQPLFVVLTS ALILGLLFLA VYSLSHGEIT
YDPLYAVFVI FSFTSVVDLV IALQEDGYMM GFMDFYTKEG EPYLRTAHGI FICYWDGTVH
YLLYLTMAGA IRKRKRYRNL GLYWLGSFAM SILVFLPGNI LGKYSSEMRP TFFLAILYML
VPCWAGVRIF NQSRAPTSYT PDMVQEEQKK SLLQRPADLA LIVYLIFAAL FTVFRGLVVL
DCPTDACFIY IYQYEPYLRD PVAYPKLQML MYLFYALPFY CLAAYALAFP GCSWLPDWAL
VFAGAIGQAQ FSHMGASMHM RTPFTYRVPE DTWATFFLSN LLLALGPHLL AFRCLWRPAF
FLHAALPSSP QDQDKKQQ
