ARMC2_HUMAN
ID ARMC2_HUMAN Reviewed; 867 AA.
AC Q8NEN0; A8K8Y4; B4DGF5; G5E993; Q5VVY8; Q9H0K9;
DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAR-2008, sequence version 4.
DT 03-AUG-2022, entry version 151.
DE RecName: Full=Armadillo repeat-containing protein 2 {ECO:0000305};
GN Name=ARMC2 {ECO:0000303|PubMed:30686508, ECO:0000312|HGNC:HGNC:23045};
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] (ISOFORMS 1 AND 2).
RC TISSUE=Amygdala, and 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].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ASP-433.
RC TISSUE=Testis;
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 160-867.
RC TISSUE=Testis;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [6]
RP INVOLVEMENT IN SPGF38, VARIANTS SPGF38 141-GLN--PHE-867 DEL AND ASN-760,
RP AND TISSUE SPECIFICITY.
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 (By similarity). Involved in axonemal central pair complex
CC assembly and/or stability (By similarity).
CC {ECO:0000250|UniProtKB:Q3URY6}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8NEN0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NEN0-2; Sequence=VSP_055622;
CC -!- TISSUE SPECIFICITY: Expressed at higher level in testis.
CC {ECO:0000269|PubMed:30686508}.
CC -!- DISEASE: Spermatogenic failure 38 (SPGF38) [MIM:618433]: An autosomal
CC recessive infertility disorder characterized by
CC asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic
CC abnormalities including short, absent, coiled, bent, or irregular-
CC caliber flagella. {ECO:0000269|PubMed:30686508}. Note=The disease is
CC caused by variants affecting the gene represented in this entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH30603.2; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAF85188.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK292499; BAF85188.1; ALT_INIT; mRNA.
DR EMBL; AK294574; BAG57766.1; -; mRNA.
DR EMBL; AL390208; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL445189; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471051; EAW48369.1; -; Genomic_DNA.
DR EMBL; BC030603; AAH30603.2; ALT_INIT; mRNA.
DR EMBL; AL136754; CAB66688.2; -; mRNA.
DR CCDS; CCDS5069.2; -. [Q8NEN0-1]
DR CCDS; CCDS69168.1; -. [Q8NEN0-2]
DR RefSeq; NP_001273538.1; NM_001286609.1. [Q8NEN0-2]
DR RefSeq; NP_115507.4; NM_032131.5. [Q8NEN0-1]
DR RefSeq; XP_005267211.1; XM_005267154.3. [Q8NEN0-1]
DR RefSeq; XP_005267212.1; XM_005267155.2. [Q8NEN0-1]
DR RefSeq; XP_005267214.1; XM_005267157.3. [Q8NEN0-2]
DR RefSeq; XP_006715636.1; XM_006715573.2. [Q8NEN0-1]
DR RefSeq; XP_006715637.1; XM_006715574.2. [Q8NEN0-2]
DR RefSeq; XP_011534468.1; XM_011536166.1. [Q8NEN0-1]
DR RefSeq; XP_011534474.1; XM_011536172.2. [Q8NEN0-2]
DR AlphaFoldDB; Q8NEN0; -.
DR SMR; Q8NEN0; -.
DR BioGRID; 123866; 4.
DR IntAct; Q8NEN0; 3.
DR STRING; 9606.ENSP00000376417; -.
DR iPTMnet; Q8NEN0; -.
DR PhosphoSitePlus; Q8NEN0; -.
DR BioMuta; ARMC2; -.
DR DMDM; 172045816; -.
DR MassIVE; Q8NEN0; -.
DR PaxDb; Q8NEN0; -.
DR PeptideAtlas; Q8NEN0; -.
DR PRIDE; Q8NEN0; -.
DR ProteomicsDB; 33870; -.
DR ProteomicsDB; 73188; -. [Q8NEN0-1]
DR Antibodypedia; 19140; 16 antibodies from 7 providers.
DR DNASU; 84071; -.
DR Ensembl; ENST00000368972.7; ENSP00000357968.3; ENSG00000118690.13. [Q8NEN0-2]
DR Ensembl; ENST00000392644.9; ENSP00000376417.4; ENSG00000118690.13. [Q8NEN0-1]
DR GeneID; 84071; -.
DR KEGG; hsa:84071; -.
DR MANE-Select; ENST00000392644.9; ENSP00000376417.4; NM_032131.6; NP_115507.4.
DR UCSC; uc003pss.6; human. [Q8NEN0-1]
DR CTD; 84071; -.
DR DisGeNET; 84071; -.
DR GeneCards; ARMC2; -.
DR HGNC; HGNC:23045; ARMC2.
DR HPA; ENSG00000118690; Tissue enhanced (testis).
DR MalaCards; ARMC2; -.
DR MIM; 618424; gene.
DR MIM; 618433; phenotype.
DR neXtProt; NX_Q8NEN0; -.
DR OpenTargets; ENSG00000118690; -.
DR Orphanet; 276234; Non-syndromic male infertility due to sperm motility disorder.
DR PharmGKB; PA134943829; -.
DR VEuPathDB; HostDB:ENSG00000118690; -.
DR eggNOG; KOG1048; Eukaryota.
DR GeneTree; ENSGT00390000000663; -.
DR HOGENOM; CLU_007173_0_0_1; -.
DR InParanoid; Q8NEN0; -.
DR OMA; NDVAMEY; -.
DR OrthoDB; 741009at2759; -.
DR PhylomeDB; Q8NEN0; -.
DR TreeFam; TF329012; -.
DR PathwayCommons; Q8NEN0; -.
DR SignaLink; Q8NEN0; -.
DR BioGRID-ORCS; 84071; 11 hits in 1068 CRISPR screens.
DR ChiTaRS; ARMC2; human.
DR GenomeRNAi; 84071; -.
DR Pharos; Q8NEN0; Tdark.
DR PRO; PR:Q8NEN0; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q8NEN0; protein.
DR Bgee; ENSG00000118690; Expressed in oocyte and 105 other tissues.
DR ExpressionAtlas; Q8NEN0; baseline and differential.
DR Genevisible; Q8NEN0; HS.
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; 5.
DR SUPFAM; SSF48371; SSF48371; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Differentiation; Disease variant; Reference proteome;
KW Repeat; Spermatogenesis.
FT CHAIN 1..867
FT /note="Armadillo repeat-containing protein 2"
FT /id="PRO_0000284401"
FT REPEAT 262..301
FT /note="ARM 1"
FT REPEAT 304..344
FT /note="ARM 2"
FT REPEAT 363..403
FT /note="ARM 3"
FT REPEAT 408..449
FT /note="ARM 4"
FT REPEAT 462..503
FT /note="ARM 5"
FT REPEAT 506..547
FT /note="ARM 6"
FT REPEAT 551..589
FT /note="ARM 7"
FT REPEAT 591..616
FT /note="ARM 8"
FT REPEAT 619..662
FT /note="ARM 9"
FT REPEAT 664..705
FT /note="ARM 10"
FT REPEAT 707..746
FT /note="ARM 11"
FT REPEAT 748..790
FT /note="ARM 12"
FT REGION 1..115
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 214..252
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 18..89
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 232..246
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..165
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055622"
FT VARIANT 141..867
FT /note="Missing (in SPGF38; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:30686508"
FT /id="VAR_082205"
FT VARIANT 166
FT /note="M -> T (in dbSNP:rs9386758)"
FT /id="VAR_031948"
FT VARIANT 433
FT /note="N -> D (in dbSNP:rs17852775)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_031949"
FT VARIANT 760
FT /note="I -> N (in SPGF38; unknown pathological
FT significance; dbSNP:rs1562435988)"
FT /evidence="ECO:0000269|PubMed:30686508"
FT /id="VAR_082206"
FT CONFLICT 392
FT /note="E -> G (in Ref. 1; BAG57766)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 867 AA; 96867 MW; 6DAC9F5DC26E5FB3 CRC64;
MLSPNDKMLG KLDPFYQPSV SKQKTSAEII SEARNALRTV RTQRPFTPQE AQRKLFGPAS
SRTSENRPPS SFSLHASSFE SSDSRPISGT RLSPLELKPK VPASPTREED SCFSFPKPPV
DPAKIRRVSN ARARLFRAAS QRALLPDRSL PPSDSKKTVE SKETVMMGDS MVKINGIYLT
KSNAICHLKS HPLQLTDDGG FSEIKEQEMF KGTTSLPSHL KNGGDQGKRH ARASSCPSSS
DLSRLQTKAV PKADLQEEDA EIEVDEVFWN TRIVPILREL EKEENIETVC AACTQLHHAL
EEGNMLGNKF KGRSILLKTL CKLVDVGSDS LSLKLAKIIL ALKVSRKNLL NVCKLIFKIS
RNEKNDSLIQ NDSILESLLE VLRSEDLQTN MEAFLYCMGS IKFISGNLGF LNEMISKGAV
EILINLIKQI NENIKKCGTF LPNSGHLLVQ VTATLRNLVD SSLVRSKFLN ISALPQLCTA
MEQYKGDKDV CTNIARIFSK LTSYRDCCTA LASYSRCYAL FLNLINKYQK KQDLVVRVVF
ILGNLTAKNN QAREQFSKEK GSIQTLLSLF QTFHQLDLHS QKPVGQRGEQ HRAQRPPSEA
EDVLIKLTRV LANIAIHPGV GPVLAANPGI VGLLLTTLEY KSLDDCEELV INATATINNL
SYYQVKNSII QDKKLYIAEL LLKLLVSNNM DGILEAVRVF GNLSQDHDVC DFIVQNNVHR
FMMALLDAQH QDICFSACGV LLNLTVDKDK RVILKEGGGI KKLVDCLRDL GPTDWQLACL
VCKTLWNFSE NITNASSCFG NEDTNTLLLL LSSFLDEELA LDGSFDPDLK NYHKLHWETE
FKPVAQQLLN RIQRHHTFLE PLPIPSF
