LHPL2_HUMAN
ID LHPL2_HUMAN Reviewed; 228 AA.
AC Q6ZUX7; B2RMQ6; Q7Z5P0; Q92605;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 121.
DE RecName: Full=LHFPL tetraspan subfamily member 2 protein {ECO:0000312|HGNC:HGNC:6588};
DE AltName: Full=Lipoma HMGIC fusion partner-like 2 protein {ECO:0000312|HGNC:HGNC:6588};
GN Name=LHFPL2 {ECO:0000312|HGNC:HGNC:6588}; Synonyms=KIAA0206;
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].
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 MRNA].
RA Huang C.Q., Wu S.L., Chen Z., Shan Y.X., Liu S.;
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 36-228, AND TISSUE SPECIFICITY.
RX PubMed=9039502; DOI=10.1093/dnares/3.5.321;
RA Nagase T., Seki N., Ishikawa K., Ohira M., Kawarabayasi Y., Ohara O.,
RA Tanaka A., Kotani H., Miyajima N., Nomura N.;
RT "Prediction of the coding sequences of unidentified human genes. VI. The
RT coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of
RT cDNA clones from cell line KG-1 and brain.";
RL DNA Res. 3:321-329(1996).
CC -!- FUNCTION: Plays a role in female and male fertility. Involved in distal
CC reproductive tract development. {ECO:0000250|UniProtKB:Q8BGA2}.
CC -!- INTERACTION:
CC Q6ZUX7; Q9H0Q3: FXYD6; NbExp=3; IntAct=EBI-17566767, EBI-713304;
CC Q6ZUX7; P01350: GAST; NbExp=3; IntAct=EBI-17566767, EBI-3436637;
CC Q6ZUX7; P36382: GJA5; NbExp=3; IntAct=EBI-17566767, EBI-750433;
CC Q6ZUX7; P08034: GJB1; NbExp=3; IntAct=EBI-17566767, EBI-17565645;
CC Q6ZUX7; Q8TDT2: GPR152; NbExp=3; IntAct=EBI-17566767, EBI-13345167;
CC Q6ZUX7; Q6UX06: OLFM4; NbExp=3; IntAct=EBI-17566767, EBI-2804156;
CC Q6ZUX7; Q14162: SCARF1; NbExp=3; IntAct=EBI-17566767, EBI-12056025;
CC Q6ZUX7; Q6UX34: SNORC; NbExp=3; IntAct=EBI-17566767, EBI-11957067;
CC Q6ZUX7; Q5BJH2-2: TMEM128; NbExp=3; IntAct=EBI-17566767, EBI-10694905;
CC Q6ZUX7; Q9BVK8: TMEM147; NbExp=3; IntAct=EBI-17566767, EBI-348587;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Expressed in all tissues and cell lines examined
CC except brain and peripheral blood leukocytes.
CC {ECO:0000269|PubMed:9039502}.
CC -!- SIMILARITY: Belongs to the LHFP family. {ECO:0000305}.
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DR EMBL; AK125227; BAC86089.1; -; mRNA.
DR EMBL; AY309920; AAP74733.1; -; mRNA.
DR EMBL; CH471084; EAW95818.1; -; Genomic_DNA.
DR EMBL; BC136335; AAI36336.1; -; mRNA.
DR EMBL; BC136336; AAI36337.1; -; mRNA.
DR EMBL; D86961; BAA13197.1; -; mRNA.
DR CCDS; CCDS4042.1; -.
DR RefSeq; NP_005770.1; NM_005779.2.
DR RefSeq; XP_006714578.1; XM_006714515.1.
DR AlphaFoldDB; Q6ZUX7; -.
DR BioGRID; 115482; 26.
DR IntAct; Q6ZUX7; 10.
DR STRING; 9606.ENSP00000369702; -.
DR iPTMnet; Q6ZUX7; -.
DR PhosphoSitePlus; Q6ZUX7; -.
DR SwissPalm; Q6ZUX7; -.
DR BioMuta; LHFPL2; -.
DR DMDM; 116242618; -.
DR EPD; Q6ZUX7; -.
DR jPOST; Q6ZUX7; -.
DR MassIVE; Q6ZUX7; -.
DR MaxQB; Q6ZUX7; -.
DR PaxDb; Q6ZUX7; -.
DR PeptideAtlas; Q6ZUX7; -.
DR PRIDE; Q6ZUX7; -.
DR ProteomicsDB; 68376; -.
DR Antibodypedia; 48435; 71 antibodies from 17 providers.
DR DNASU; 10184; -.
DR Ensembl; ENST00000380345.7; ENSP00000369702.2; ENSG00000145685.14.
DR Ensembl; ENST00000515007.6; ENSP00000425906.1; ENSG00000145685.14.
DR GeneID; 10184; -.
DR KEGG; hsa:10184; -.
DR MANE-Select; ENST00000380345.7; ENSP00000369702.2; NM_005779.3; NP_005770.1.
DR UCSC; uc003kfo.4; human.
DR CTD; 10184; -.
DR DisGeNET; 10184; -.
DR GeneCards; LHFPL2; -.
DR HGNC; HGNC:6588; LHFPL2.
DR HPA; ENSG00000145685; Low tissue specificity.
DR MIM; 609718; gene.
DR neXtProt; NX_Q6ZUX7; -.
DR OpenTargets; ENSG00000145685; -.
DR PharmGKB; PA30360; -.
DR VEuPathDB; HostDB:ENSG00000145685; -.
DR eggNOG; KOG4026; Eukaryota.
DR GeneTree; ENSGT00990000203589; -.
DR HOGENOM; CLU_084868_0_0_1; -.
DR InParanoid; Q6ZUX7; -.
DR OMA; PKWLVGP; -.
DR OrthoDB; 1431349at2759; -.
DR PhylomeDB; Q6ZUX7; -.
DR TreeFam; TF321143; -.
DR PathwayCommons; Q6ZUX7; -.
DR Reactome; R-HSA-114608; Platelet degranulation.
DR SignaLink; Q6ZUX7; -.
DR BioGRID-ORCS; 10184; 10 hits in 1076 CRISPR screens.
DR ChiTaRS; LHFPL2; human.
DR GeneWiki; LHFPL2; -.
DR GenomeRNAi; 10184; -.
DR Pharos; Q6ZUX7; Tdark.
DR PRO; PR:Q6ZUX7; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q6ZUX7; protein.
DR Bgee; ENSG00000145685; Expressed in vena cava and 215 other tissues.
DR ExpressionAtlas; Q6ZUX7; baseline and differential.
DR Genevisible; Q6ZUX7; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0031092; C:platelet alpha granule membrane; TAS:Reactome.
DR GO; GO:0046545; P:development of primary female sexual characteristics; ISS:UniProtKB.
DR GO; GO:0046546; P:development of primary male sexual characteristics; ISS:UniProtKB.
DR GO; GO:1905516; P:positive regulation of fertilization; ISS: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..228
FT /note="LHFPL tetraspan subfamily member 2 protein"
FT /id="PRO_0000244763"
FT TRANSMEM 11..31
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 102..122
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 132..152
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 181..201
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VARIANT 102
FT /note="I -> V (in dbSNP:rs2303654)"
FT /id="VAR_026913"
FT CONFLICT 35
FT /note="I -> T (in Ref. 1; BAC86089)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 228 AA; 24486 MW; C8FD766FFD9D0D31 CRC64;
MCHVIVTCRS MLWTLLSIVV AFAELIAFMS ADWLIGKARS RGGVEPAGPG GGSPEPYHPT
LGIYARCIRN PGVQHFQRDT LCGPYAESFG EIASGFWQAT AIFLAVGIFI LCMVALVSVF
TMCVQSIMKK SIFNVCGLLQ GIAGLFLILG LILYPAGWGC QKAIDYCGHY ASAYKPGDCS
LGWAFYTAIG GTVLTFICAV FSAQAEIATS SDKVQEEIEE GKNLICLL
