ELMD2_HUMAN
ID ELMD2_HUMAN Reviewed; 293 AA.
AC Q8IZ81; B2R712; D3DNZ0;
DT 07-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=ELMO domain-containing protein 2;
GN Name=ELMOD2;
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].
RC TISSUE=Testis;
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 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Pancreas;
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 [4]
RP TISSUE SPECIFICITY.
RX PubMed=16773575; DOI=10.1086/504639;
RA Hodgson U., Pulkkinen V., Dixon M., Peyrard-Janvid M., Rehn M., Lahermo P.,
RA Ollikainen V., Salmenkivi K., Kinnula V., Kere J., Tukiainen P.,
RA Laitinen T.;
RT "ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis.";
RL Am. J. Hum. Genet. 79:149-154(2006).
RN [5]
RP FUNCTION, TISSUE SPECIFICITY, AND IDENTIFICATION BY MASS SPECTROMETRY.
RX PubMed=17452337; DOI=10.1074/jbc.m701347200;
RA Bowzard J.B., Cheng D., Peng J., Kahn R.A.;
RT "ELMOD2 is an Arl2 GTPase-activating protein that also acts on Arfs.";
RL J. Biol. Chem. 282:17568-17580(2007).
RN [6]
RP FUNCTION.
RX PubMed=19966137; DOI=10.1096/fj.09-138545;
RA Pulkkinen V., Bruce S., Rintahaka J., Hodgson U., Laitinen T., Alenius H.,
RA Kinnula V.L., Myllaerniemi M., Matikainen S., Kere J.;
RT "ELMOD2, a candidate gene for idiopathic pulmonary fibrosis, regulates
RT antiviral responses.";
RL FASEB J. 24:1167-1177(2010).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- FUNCTION: Acts as a GTPase-activating protein (GAP) toward guanine
CC nucleotide exchange factors like ARL2, ARL3, ARF1 and ARF6, but not for
CC GTPases outside the Arf family. Regulates IFN-related antiviral
CC responses. {ECO:0000269|PubMed:17452337, ECO:0000269|PubMed:19966137}.
CC -!- TISSUE SPECIFICITY: Alveolar cells (morphologically type II cells) and
CC alveolar macrophages (at protein level). Expressed in brain, colon,
CC heart, kidney, liver, lung, muscle, placenta, small intestine, spleen,
CC stomach and testis. In lung it is expressed in alveolar macrophages and
CC alveolar walls. {ECO:0000269|PubMed:16773575,
CC ECO:0000269|PubMed:17452337}.
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DR EMBL; AK312800; BAG35659.1; -; mRNA.
DR EMBL; CH471056; EAX05096.1; -; Genomic_DNA.
DR EMBL; CH471056; EAX05097.1; -; Genomic_DNA.
DR EMBL; BC015168; AAH15168.2; -; mRNA.
DR CCDS; CCDS3752.1; -.
DR RefSeq; NP_714913.1; NM_153702.3.
DR RefSeq; XP_005262943.1; XM_005262886.2.
DR RefSeq; XP_011530121.1; XM_011531819.2.
DR AlphaFoldDB; Q8IZ81; -.
DR SMR; Q8IZ81; -.
DR BioGRID; 129109; 10.
DR IntAct; Q8IZ81; 3.
DR MINT; Q8IZ81; -.
DR STRING; 9606.ENSP00000326342; -.
DR iPTMnet; Q8IZ81; -.
DR PhosphoSitePlus; Q8IZ81; -.
DR SwissPalm; Q8IZ81; -.
DR BioMuta; ELMOD2; -.
DR DMDM; 74728441; -.
DR EPD; Q8IZ81; -.
DR jPOST; Q8IZ81; -.
DR MassIVE; Q8IZ81; -.
DR MaxQB; Q8IZ81; -.
DR PaxDb; Q8IZ81; -.
DR PeptideAtlas; Q8IZ81; -.
DR PRIDE; Q8IZ81; -.
DR ProteomicsDB; 71286; -.
DR Antibodypedia; 45421; 169 antibodies from 23 providers.
DR DNASU; 255520; -.
DR Ensembl; ENST00000323570.8; ENSP00000326342.3; ENSG00000179387.10.
DR GeneID; 255520; -.
DR KEGG; hsa:255520; -.
DR MANE-Select; ENST00000323570.8; ENSP00000326342.3; NM_153702.4; NP_714913.1.
DR UCSC; uc003iik.3; human.
DR CTD; 255520; -.
DR DisGeNET; 255520; -.
DR GeneCards; ELMOD2; -.
DR HGNC; HGNC:28111; ELMOD2.
DR HPA; ENSG00000179387; Low tissue specificity.
DR MIM; 610196; gene.
DR neXtProt; NX_Q8IZ81; -.
DR OpenTargets; ENSG00000179387; -.
DR PharmGKB; PA134984145; -.
DR VEuPathDB; HostDB:ENSG00000179387; -.
DR eggNOG; KOG2998; Eukaryota.
DR GeneTree; ENSGT00940000156589; -.
DR HOGENOM; CLU_056289_0_0_1; -.
DR InParanoid; Q8IZ81; -.
DR OMA; FRFWLKW; -.
DR OrthoDB; 1282549at2759; -.
DR PhylomeDB; Q8IZ81; -.
DR TreeFam; TF323472; -.
DR PathwayCommons; Q8IZ81; -.
DR SignaLink; Q8IZ81; -.
DR BioGRID-ORCS; 255520; 16 hits in 1038 CRISPR screens.
DR ChiTaRS; ELMOD2; human.
DR GenomeRNAi; 255520; -.
DR Pharos; Q8IZ81; Tbio.
DR PRO; PR:Q8IZ81; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q8IZ81; protein.
DR Bgee; ENSG00000179387; Expressed in adrenal tissue and 195 other tissues.
DR ExpressionAtlas; Q8IZ81; baseline and differential.
DR Genevisible; Q8IZ81; HS.
DR GO; GO:0016020; C:membrane; HDA:UniProtKB.
DR GO; GO:0005096; F:GTPase activator activity; IDA:UniProtKB.
DR GO; GO:0051607; P:defense response to virus; IEA:UniProtKB-KW.
DR GO; GO:0043547; P:positive regulation of GTPase activity; IEA:InterPro.
DR GO; GO:0050688; P:regulation of defense response to virus; IDA:UniProtKB.
DR InterPro; IPR006816; ELMO_dom.
DR InterPro; IPR030724; ELMOD2.
DR PANTHER; PTHR12771:SF47; PTHR12771:SF47; 1.
DR Pfam; PF04727; ELMO_CED12; 1.
DR PROSITE; PS51335; ELMO; 1.
PE 1: Evidence at protein level;
KW Antiviral defense; GTPase activation; Reference proteome.
FT CHAIN 1..293
FT /note="ELMO domain-containing protein 2"
FT /id="PRO_0000225017"
FT DOMAIN 126..282
FT /note="ELMO"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00664"
SQ SEQUENCE 293 AA; 34961 MW; 339CD216FC46ADD2 CRC64;
MFISLWEFFY GHFFRFWMKW LLRQMTGKCE LQRIFDTYVG AQRTHRIENS LTYSKNKVLQ
KATHVVQSEV DKYVDDIMKE KNINPEKDAS FKICMKMCLL QITGYKQLYL DVESVRKRPY
DSDNLQHEEL LMKLWNLLMP TKKLNARISK QWAEIGFQGD DPKTDFRGMG ILGLINLVYF
SENYTSEAHQ ILSRSNHPKL GYSYAIVGIN LTEMAYSLLK SEALKFHLYN LVPGIPTMEH
FHQFYCYLVY EFDKFWFEEE PESIMYFNLY REKFHEKIKG LLLDCNVALT LKV