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LHPL2_MOUSE
ID   LHPL2_MOUSE             Reviewed;         222 AA.
AC   Q8BGA2;
DT   27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT   01-MAR-2003, sequence version 1.
DT   03-AUG-2022, entry version 117.
DE   RecName: Full=LHFPL tetraspan subfamily member 2 protein {ECO:0000250|UniProtKB:Q6ZUX7};
DE   AltName: Full=Lipoma HMGIC fusion partner-like 2 protein {ECO:0000312|MGI:MGI:2145236};
GN   Name=Lhfpl2 {ECO:0000312|MGI:MGI:2145236};
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].
RC   STRAIN=C57BL/6J; TISSUE=Eye, Head, and 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].
RC   TISSUE=Mammary tumor;
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   FUNCTION, TISSUE SPECIFICITY, AND VARIANT GLU-102.
RX   PubMed=26964900; DOI=10.1038/srep23037;
RA   Zhao F., Zhou J., Li R., Dudley E.A., Ye X.;
RT   "Novel function of LHFPL2 in female and male distal reproductive tract
RT   development.";
RL   Sci. Rep. 6:23037-23037(2016).
CC   -!- FUNCTION: Plays a role in female and male fertility. Involved in distal
CC       reproductive tract development (PubMed:26964900).
CC       {ECO:0000269|PubMed:26964900}.
CC   -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC       protein {ECO:0000305}.
CC   -!- TISSUE SPECIFICITY: Expressed in the epithelium of the vas deferens (at
CC       protein level). Widely expressed (PubMed:26964900). Strongly expressed
CC       in heart, spleen, liver, kidney, thymus, testis, brain, lung,
CC       intestine, vagina, ovary and uterus (PubMed:26964900). Expressed in
CC       follicle cells of the ovary, epithelial cells of the oviduct, both
CC       luminal and glandular epithelial cells of the uterus, and epithelial
CC       cells of the vagina (PubMed:26964900). {ECO:0000269|PubMed:26964900}.
CC   -!- SIMILARITY: Belongs to the LHFP family. {ECO:0000305}.
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DR   EMBL; BC040389; AAH40389.1; -; mRNA.
DR   EMBL; AK030103; BAC26786.1; -; mRNA.
DR   EMBL; AK052969; BAC35225.1; -; mRNA.
DR   EMBL; AK087506; BAC39903.1; -; mRNA.
DR   CCDS; CCDS26692.1; -.
DR   RefSeq; NP_766177.1; NM_172589.2.
DR   RefSeq; XP_011242941.1; XM_011244639.2.
DR   RefSeq; XP_011242942.1; XM_011244640.1.
DR   RefSeq; XP_011242943.1; XM_011244641.2.
DR   RefSeq; XP_011242944.1; XM_011244642.2.
DR   RefSeq; XP_011242945.1; XM_011244643.2.
DR   RefSeq; XP_011242946.1; XM_011244644.2.
DR   AlphaFoldDB; Q8BGA2; -.
DR   SMR; Q8BGA2; -.
DR   STRING; 10090.ENSMUSP00000062239; -.
DR   TCDB; 1.A.82.1.2; the lhfpl tetraspan protein (ltsp) family.
DR   PhosphoSitePlus; Q8BGA2; -.
DR   SwissPalm; Q8BGA2; -.
DR   MaxQB; Q8BGA2; -.
DR   PaxDb; Q8BGA2; -.
DR   PRIDE; Q8BGA2; -.
DR   ProteomicsDB; 286192; -.
DR   Antibodypedia; 48435; 71 antibodies from 17 providers.
DR   DNASU; 218454; -.
DR   Ensembl; ENSMUST00000054274; ENSMUSP00000062239; ENSMUSG00000045312.
DR   Ensembl; ENSMUST00000118195; ENSMUSP00000112655; ENSMUSG00000045312.
DR   Ensembl; ENSMUST00000121618; ENSMUSP00000113468; ENSMUSG00000045312.
DR   GeneID; 218454; -.
DR   KEGG; mmu:218454; -.
DR   UCSC; uc007rlp.1; mouse.
DR   CTD; 10184; -.
DR   MGI; MGI:2145236; Lhfpl2.
DR   VEuPathDB; HostDB:ENSMUSG00000045312; -.
DR   eggNOG; KOG4026; Eukaryota.
DR   GeneTree; ENSGT00990000203589; -.
DR   HOGENOM; CLU_084868_0_0_1; -.
DR   InParanoid; Q8BGA2; -.
DR   OMA; PKWLVGP; -.
DR   OrthoDB; 1431349at2759; -.
DR   PhylomeDB; Q8BGA2; -.
DR   TreeFam; TF321143; -.
DR   Reactome; R-MMU-114608; Platelet degranulation.
DR   BioGRID-ORCS; 218454; 1 hit in 73 CRISPR screens.
DR   ChiTaRS; Lhfpl2; mouse.
DR   PRO; PR:Q8BGA2; -.
DR   Proteomes; UP000000589; Chromosome 13.
DR   RNAct; Q8BGA2; protein.
DR   Bgee; ENSMUSG00000045312; Expressed in metanephric loop of Henle and 225 other tissues.
DR   ExpressionAtlas; Q8BGA2; baseline and differential.
DR   Genevisible; Q8BGA2; MM.
DR   GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR   GO; GO:0016020; C:membrane; IBA:GO_Central.
DR   GO; GO:0046545; P:development of primary female sexual characteristics; IMP:UniProtKB.
DR   GO; GO:0046546; P:development of primary male sexual characteristics; IMP:UniProtKB.
DR   GO; GO:1905516; P:positive regulation of fertilization; IMP:UniProtKB.
DR   GO; GO:0007338; P:single fertilization; IEA:UniProtKB-KW.
DR   InterPro; IPR019372; LHFPL.
DR   PANTHER; PTHR12489; PTHR12489; 1.
DR   Pfam; PF10242; L_HMGIC_fpl; 1.
PE   1: Evidence at protein level;
KW   Fertilization; Membrane; Reference proteome; Transmembrane;
KW   Transmembrane helix.
FT   CHAIN           1..222
FT                   /note="LHFPL tetraspan subfamily member 2 protein"
FT                   /id="PRO_0000244764"
FT   TRANSMEM        11..31
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        97..117
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        127..147
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        175..195
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   VARIANT         102
FT                   /note="G -> E (causes malformations in the distal
FT                   reproductive tract development in both female and male)"
FT                   /evidence="ECO:0000269|PubMed:26964900"
SQ   SEQUENCE   222 AA;  23873 MW;  B105BF041868F1A9 CRC64;
     MCHVIVTCRS MLWTLLSIVV AFAELVAFMS ADWLIGKAKT RSGSGDEQAG MNSEPHYLGI
     LCIRTPAMQQ VSRDTLCGTY AKSFGEIASG FWQATAIFLA VGIFILCVVA LVSVFTMCVQ
     SIMRKSIFNV CGLLQGIAGL FLILGLILYP AGWGCQKAID CGRYASPYKP GDCSLGWAFY
     TATGGTVLTF ICAVFSAQAE IATSSDKVQE EIEEGKNLVC LL
 
 
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