ORML2_HUMAN
ID ORML2_HUMAN Reviewed; 153 AA.
AC Q53FV1; B2RA58; Q7Z4E5; Q8NFX0; Q9P004;
DT 08-NOV-2005, integrated into UniProtKB/Swiss-Prot.
DT 08-NOV-2005, sequence version 2.
DT 03-AUG-2022, entry version 128.
DE RecName: Full=ORM1-like protein 2;
DE AltName: Full=Adoplin-2;
GN Name=ORMDL2; ORFNames=HSPC160, MSTP095;
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], SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=12093374; DOI=10.1186/gb-2002-3-6-research0027;
RA Hjelmqvist L., Tuson M., Marfany G., Herrero E., Balcells S.,
RA Gonzalez-Duarte R.;
RT "ORMDL proteins are a conserved new family of endoplasmic reticulum
RT membrane proteins.";
RL Genome Biol. 3:RESEARCH0027.1-RESEARCH0027.13(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Fetal brain;
RX PubMed=17928364; DOI=10.1096/fj.07-9072com;
RA Araki W., Takahashi-Sasaki N., Chui D.H., Saito S., Takeda K.,
RA Shirotani K., Takahashi K., Murayama K.S., Kametani F., Shiraishi H.,
RA Komano H., Tabira T.;
RT "A family of membrane proteins associated with presenilin expression and
RT gamma-secretase function.";
RL FASEB J. 22:819-827(2008).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Umbilical cord blood;
RX PubMed=11042152; DOI=10.1101/gr.140200;
RA Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G.,
RA Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W.,
RA Tao J., Huang Q.-H., Zhou J., Hu G.-X., Gu J., Chen S.-J., Chen Z.;
RT "Cloning and functional analysis of cDNAs with open reading frames for 300
RT previously undefined genes expressed in CD34+ hematopoietic stem/progenitor
RT cells.";
RL Genome Res. 10:1546-1560(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Aorta;
RA Zhao B., Tong Y.K., Xu H.S., Qin B.M., Liu Y.Q., Liu B., Wang X.Y.,
RA Zhang Q., Song L., Gao Y., Zhang C.L., Ye J., Ji X.J., Liu B.H., Lu H.,
RA Chen J.Z., Cai M.Q., Zheng W.Y., Teng C.Y., Liu Q., Yu L.T., Lin J.,
RA Gong Q., Zhang A.M., Gao R.L., Hui R.T.;
RL Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases.
RN [5]
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Pancreas;
RA Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
RA Tanaka A., Yokoyama S.;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
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 [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Prostate;
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 [9]
RP FUNCTION.
RX PubMed=20182505; DOI=10.1038/nature08787;
RA Breslow D.K., Collins S.R., Bodenmiller B., Aebersold R., Simons K.,
RA Shevchenko A., Ejsing C.S., Weissman J.S.;
RT "Orm family proteins mediate sphingolipid homeostasis.";
RL Nature 463:1048-1053(2010).
RN [10]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
CC -!- FUNCTION: Negative regulator of sphingolipid synthesis.
CC {ECO:0000269|PubMed:20182505}.
CC -!- INTERACTION:
CC Q53FV1; Q13520: AQP6; NbExp=3; IntAct=EBI-11075081, EBI-13059134;
CC Q53FV1; P11912: CD79A; NbExp=3; IntAct=EBI-11075081, EBI-7797864;
CC Q53FV1; Q96BA8: CREB3L1; NbExp=3; IntAct=EBI-11075081, EBI-6942903;
CC Q53FV1; P49447: CYB561; NbExp=3; IntAct=EBI-11075081, EBI-8646596;
CC Q53FV1; P00387: CYB5R3; NbExp=3; IntAct=EBI-11075081, EBI-1046040;
CC Q53FV1; Q15125: EBP; NbExp=3; IntAct=EBI-11075081, EBI-3915253;
CC Q53FV1; Q9GZR5: ELOVL4; NbExp=3; IntAct=EBI-11075081, EBI-18535450;
CC Q53FV1; Q96KR6: FAM210B; NbExp=3; IntAct=EBI-11075081, EBI-18938272;
CC Q53FV1; P48165: GJA8; NbExp=3; IntAct=EBI-11075081, EBI-17458373;
CC Q53FV1; P48051: KCNJ6; NbExp=3; IntAct=EBI-11075081, EBI-12017638;
CC Q53FV1; Q8N4V1: MMGT1; NbExp=3; IntAct=EBI-11075081, EBI-6163737;
CC Q53FV1; Q86VR2: RETREG3; NbExp=3; IntAct=EBI-11075081, EBI-10192441;
CC Q53FV1; Q9NY72: SCN3B; NbExp=3; IntAct=EBI-11075081, EBI-17247926;
CC Q53FV1; Q14973: SLC10A1; NbExp=3; IntAct=EBI-11075081, EBI-3923031;
CC Q53FV1; Q9BXJ8: TMEM120A; NbExp=3; IntAct=EBI-11075081, EBI-727322;
CC Q53FV1; Q8N661: TMEM86B; NbExp=3; IntAct=EBI-11075081, EBI-2548832;
CC Q53FV1; Q9Y320: TMX2; NbExp=3; IntAct=EBI-11075081, EBI-6447886;
CC Q53FV1; Q96MV8: ZDHHC15; NbExp=3; IntAct=EBI-11075081, EBI-12837904;
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC {ECO:0000269|PubMed:12093374}; Multi-pass membrane protein
CC {ECO:0000269|PubMed:12093374}.
CC -!- TISSUE SPECIFICITY: Widely expressed. Expressed in adult and fetal
CC heart, brain, lung, liver, skeletal muscle and kidney. Expressed in
CC adult pancreas and placenta and in fetal spleen abd thymus.
CC {ECO:0000269|PubMed:12093374}.
CC -!- SIMILARITY: Belongs to the ORM family. {ECO:0000305}.
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DR EMBL; AF395705; AAM43504.1; -; mRNA.
DR EMBL; AF395706; AAM43505.1; -; mRNA.
DR EMBL; AF395707; AAM43506.1; -; mRNA.
DR EMBL; AB064961; BAC11712.1; -; mRNA.
DR EMBL; AF161509; AAF29124.1; -; mRNA.
DR EMBL; AF173375; AAQ13618.1; -; mRNA.
DR EMBL; AK223180; BAD96900.1; -; mRNA.
DR EMBL; AK314046; BAG36755.1; -; mRNA.
DR EMBL; CH471054; EAW96840.1; -; Genomic_DNA.
DR EMBL; BC012543; AAH12543.1; -; mRNA.
DR CCDS; CCDS8893.1; -.
DR RefSeq; NP_054901.1; NM_014182.4.
DR AlphaFoldDB; Q53FV1; -.
DR SMR; Q53FV1; -.
DR BioGRID; 118864; 52.
DR IntAct; Q53FV1; 28.
DR STRING; 9606.ENSP00000243045; -.
DR iPTMnet; Q53FV1; -.
DR PhosphoSitePlus; Q53FV1; -.
DR BioMuta; ORMDL2; -.
DR DMDM; 81174969; -.
DR EPD; Q53FV1; -.
DR jPOST; Q53FV1; -.
DR MassIVE; Q53FV1; -.
DR MaxQB; Q53FV1; -.
DR PaxDb; Q53FV1; -.
DR PeptideAtlas; Q53FV1; -.
DR PRIDE; Q53FV1; -.
DR ProteomicsDB; 62469; -.
DR TopDownProteomics; Q53FV1; -.
DR Antibodypedia; 53765; 86 antibodies from 17 providers.
DR DNASU; 29095; -.
DR Ensembl; ENST00000243045.10; ENSP00000243045.5; ENSG00000123353.10.
DR Ensembl; ENST00000548974.1; ENSP00000448788.1; ENSG00000123353.10.
DR GeneID; 29095; -.
DR KEGG; hsa:29095; -.
DR MANE-Select; ENST00000243045.10; ENSP00000243045.5; NM_014182.5; NP_054901.1.
DR UCSC; uc001shw.2; human.
DR CTD; 29095; -.
DR DisGeNET; 29095; -.
DR GeneCards; ORMDL2; -.
DR HGNC; HGNC:16037; ORMDL2.
DR HPA; ENSG00000123353; Low tissue specificity.
DR MIM; 610074; gene.
DR neXtProt; NX_Q53FV1; -.
DR OpenTargets; ENSG00000123353; -.
DR PharmGKB; PA32820; -.
DR VEuPathDB; HostDB:ENSG00000123353; -.
DR eggNOG; KOG3319; Eukaryota.
DR GeneTree; ENSGT00950000183178; -.
DR HOGENOM; CLU_072117_3_0_1; -.
DR InParanoid; Q53FV1; -.
DR OMA; AVTYHLF; -.
DR OrthoDB; 1405600at2759; -.
DR PhylomeDB; Q53FV1; -.
DR TreeFam; TF323369; -.
DR PathwayCommons; Q53FV1; -.
DR Reactome; R-HSA-1660661; Sphingolipid de novo biosynthesis.
DR SignaLink; Q53FV1; -.
DR BioGRID-ORCS; 29095; 16 hits in 1078 CRISPR screens.
DR ChiTaRS; ORMDL2; human.
DR GenomeRNAi; 29095; -.
DR Pharos; Q53FV1; Tdark.
DR PRO; PR:Q53FV1; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q53FV1; protein.
DR Bgee; ENSG00000123353; Expressed in islet of Langerhans and 186 other tissues.
DR ExpressionAtlas; Q53FV1; baseline and differential.
DR Genevisible; Q53FV1; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0035339; C:SPOTS complex; IBA:GO_Central.
DR GO; GO:0090156; P:cellular sphingolipid homeostasis; IBA:GO_Central.
DR GO; GO:0006672; P:ceramide metabolic process; IMP:UniProtKB.
DR GO; GO:1900060; P:negative regulation of ceramide biosynthetic process; IMP:MGI.
DR InterPro; IPR007203; ORMDL.
DR InterPro; IPR029886; ORML2.
DR PANTHER; PTHR12665; PTHR12665; 1.
DR PANTHER; PTHR12665:SF13; PTHR12665:SF13; 1.
DR Pfam; PF04061; ORMDL; 1.
DR PIRSF; PIRSF018147; ORMDL; 1.
PE 1: Evidence at protein level;
KW Endoplasmic reticulum; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..153
FT /note="ORM1-like protein 2"
FT /id="PRO_0000215636"
FT TRANSMEM 22..42
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 43..63
FT /note="Helical"
FT /evidence="ECO:0000255"
FT CONFLICT 5
FT /note="V -> A (in Ref. 1; AAM43506)"
FT /evidence="ECO:0000305"
FT CONFLICT 8
FT /note="S -> N (in Ref. 6; BAD96900)"
FT /evidence="ECO:0000305"
FT CONFLICT 144
FT /note="G -> R (in Ref. 1; AAM43506)"
FT /evidence="ECO:0000305"
FT CONFLICT 153
FT /note="Y -> F (in Ref. 4; AAQ13618)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 153 AA; 17363 MW; F4031EF81F8E8B71 CRC64;
MNVGVAHSEV NPNTRVMNSR GIWLAYIILV GLLHMVLLSI PFFSIPVVWT LTNVIHNLAT
YVFLHTVKGT PFETPDQGKA RLLTHWEQMD YGLQFTSSRK FLSISPIVLY LLASFYTKYD
AAHFLINTAS LLSVLLPKLP QFHGVRVFGI NKY
