ARMC2_MOUSE
ID ARMC2_MOUSE Reviewed; 854 AA.
AC Q3URY6;
DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAR-2008, sequence version 3.
DT 03-AUG-2022, entry version 110.
DE RecName: Full=Armadillo repeat-containing protein 2 {ECO:0000305};
GN Name=Armc2 {ECO:0000303|PubMed:30686508, ECO:0000312|MGI:MGI:1916449};
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=Cerebellum;
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 GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1-147 (ISOFORM 1).
RC STRAIN=C57BL/6J;
RX PubMed=8889548; DOI=10.1101/gr.6.9.791;
RA Bonaldo M.F., Lennon G., Soares M.B.;
RT "Normalization and subtraction: two approaches to facilitate gene
RT discovery.";
RL Genome Res. 6:791-806(1996).
RN [4]
RP FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=30686508; DOI=10.1016/j.ajhg.2018.12.013;
RA Coutton C., Martinez G., Kherraf Z.E., Amiri-Yekta A., Boguenet M.,
RA Saut A., He X., Zhang F., Cristou-Kent M., Escoffier J., Bidart M.,
RA Satre V., Conne B., Fourati Ben Mustapha S., Halouani L., Marrakchi O.,
RA Makni M., Latrous H., Kharouf M., Pernet-Gallay K., Bonhivers M.,
RA Hennebicq S., Rives N., Dulioust E., Toure A., Gourabi H., Cao Y.,
RA Zouari R., Hosseini S.H., Nef S., Thierry-Mieg N., Arnoult C., Ray P.F.;
RT "Bi-allelic Mutations in ARMC2 lead to severe astheno-teratozoospermia due
RT to sperm flagellum malformations in humans and mice.";
RL Am. J. Hum. Genet. 104:331-340(2019).
CC -!- FUNCTION: Required for sperm flagellum axoneme organization and
CC function (PubMed:30686508). Involved in axonemal central pair complex
CC assembly and/or stability (PubMed:30686508).
CC {ECO:0000269|PubMed:30686508}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q3URY6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q3URY6-2; Sequence=VSP_024495, VSP_024496;
CC -!- DISRUPTION PHENOTYPE: Male mice are infertile, while female fertility
CC is not affected (PubMed:30686508). Spermatozoa exhibit multiple
CC morphologic abnormalities including short, thick, and/or coiled
CC flagella, whereas sperm heads conserve an overall typical hooked shape
CC (PubMed:30686508). {ECO:0000269|PubMed:30686508}.
CC -!- MISCELLANEOUS: [Isoform 2]: Due to intron retention. {ECO:0000305}.
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DR EMBL; AK141039; BAE24551.1; -; mRNA.
DR EMBL; AC165442; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BM942469; -; NOT_ANNOTATED_CDS; mRNA.
DR RefSeq; NP_001030030.2; NM_001034858.3. [Q3URY6-1]
DR RefSeq; XP_011241459.1; XM_011243157.2.
DR RefSeq; XP_011241461.1; XM_011243159.1. [Q3URY6-1]
DR AlphaFoldDB; Q3URY6; -.
DR SMR; Q3URY6; -.
DR STRING; 10090.ENSMUSP00000125583; -.
DR iPTMnet; Q3URY6; -.
DR PhosphoSitePlus; Q3URY6; -.
DR PaxDb; Q3URY6; -.
DR PRIDE; Q3URY6; -.
DR ProteomicsDB; 283270; -. [Q3URY6-1]
DR ProteomicsDB; 283271; -. [Q3URY6-2]
DR Antibodypedia; 19140; 16 antibodies from 7 providers.
DR Ensembl; ENSMUST00000095729; ENSMUSP00000093397; ENSMUSG00000071324. [Q3URY6-1]
DR Ensembl; ENSMUST00000160262; ENSMUSP00000125412; ENSMUSG00000071324. [Q3URY6-1]
DR GeneID; 213402; -.
DR KEGG; mmu:213402; -.
DR UCSC; uc007eyg.3; mouse. [Q3URY6-2]
DR UCSC; uc007eyh.3; mouse. [Q3URY6-1]
DR CTD; 84071; -.
DR MGI; MGI:1916449; Armc2.
DR VEuPathDB; HostDB:ENSMUSG00000071324; -.
DR eggNOG; KOG1048; Eukaryota.
DR GeneTree; ENSGT00390000000663; -.
DR HOGENOM; CLU_007173_0_0_1; -.
DR InParanoid; Q3URY6; -.
DR OMA; NDVAMEY; -.
DR OrthoDB; 741009at2759; -.
DR PhylomeDB; Q3URY6; -.
DR BioGRID-ORCS; 213402; 2 hits in 65 CRISPR screens.
DR ChiTaRS; Armc2; mouse.
DR PRO; PR:Q3URY6; -.
DR Proteomes; UP000000589; Chromosome 10.
DR RNAct; Q3URY6; protein.
DR Bgee; ENSMUSG00000071324; Expressed in spermatid and 64 other tissues.
DR ExpressionAtlas; Q3URY6; baseline and differential.
DR GO; GO:0044782; P:cilium organization; IBA:GO_Central.
DR GO; GO:0007288; P:sperm axoneme assembly; IMP:UniProtKB.
DR Gene3D; 1.25.10.10; -; 2.
DR InterPro; IPR011989; ARM-like.
DR InterPro; IPR016024; ARM-type_fold.
DR InterPro; IPR000225; Armadillo.
DR InterPro; IPR038905; ARMC2.
DR PANTHER; PTHR21356; PTHR21356; 1.
DR SMART; SM00185; ARM; 8.
DR SUPFAM; SSF48371; SSF48371; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Differentiation; Reference proteome; Repeat;
KW Spermatogenesis.
FT CHAIN 1..854
FT /note="Armadillo repeat-containing protein 2"
FT /id="PRO_0000325090"
FT REPEAT 255..294
FT /note="ARM 1"
FT REPEAT 298..337
FT /note="ARM 2"
FT REPEAT 356..396
FT /note="ARM 3"
FT REPEAT 401..442
FT /note="ARM 4"
FT REPEAT 455..496
FT /note="ARM 5"
FT REPEAT 499..540
FT /note="ARM 6"
FT REPEAT 544..583
FT /note="ARM 7"
FT REPEAT 585..605
FT /note="ARM 8"
FT REPEAT 606..649
FT /note="ARM 9"
FT REPEAT 651..692
FT /note="ARM 10"
FT REPEAT 694..733
FT /note="ARM 11"
FT REPEAT 735..777
FT /note="ARM 12"
FT REGION 1..116
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 140..194
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 206..255
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 19..42
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 63..85
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 154..194
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..232
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_024495"
FT VAR_SEQ 233..241
FT /note="SDLSRKETR -> MPFPSLHFF (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_024496"
SQ SEQUENCE 854 AA; 95311 MW; 5F6B87A7F0D5EEF2 CRC64;
MLSSNDQKLE KLDSFYRPPV SKQRTSAEII SEARNALRTV RTQRPFTPRE DQRKLFGPAS
SRSPENRPPS SFSLHASSFE LSDSKPISGT RLRPLELKPK APASPGTEDA CLSFPKAPLD
PAKIRKISGA RARFYRAASQ GMLLPDRSPP AAHSKTVDES SKPVSVGSST ARRNGTHLTA
SSATGQLKSP PLLTCDQGFQ ETTEQEVSLL SQLRRGGDPG KRRARASSCP SSSDLSRKET
RAASRASSQE QETDTEVDEV FWKARIVPIL HELENEEDIE EMCAACTQLH RTLEEARMLG
KKFKRRTVLL KALYKLVDAD SDPLSLKLAK LILALKVSGK NLLNVCKLIF KISRNEKNDT
LMQEDNILES LLEVLRAEEL QSNTEAFLYC MGALKFVSGS PGFLTEMVNK GAVEILAQLI
KEMTEDTEKH GVCLPDSGHL LVQTTATLRN LVDSPLTRSK LLNMGAFPHL CTVMEQHADD
KDICTNIARI FSKLTSYRDC CAALASYSRC YALFLSLLNK YQKNQDLVIR IVFILGNLTA
KSNQARELFS RETGSVETLL TLFQSFYHHK ENSPKLQLSE AKPQAEAEDV LVKLTRVLAN
IAIHPRIGPV LAANPRVVGL LLRTLESKSL GDCEELVINT IAAINNLSFY QVKSSVLQHR
KLYVAELLLR LLVSNNMERI LEAVRVFGNL SQDHDVCNFL MQKNVHKFMI TLLEAKHQDI
CFSACGVLLN LTVDKEKRAI LKEGGGIKKL VDCLRDFGPS DWQLACLVCK TLWNFSENIT
NASECFGDDV ANTLLILLST FLDEELALNG SFDQDLESYH RLHWETEFKP VAQQLLQRIQ
SHHSLLEPLP VPSF
