ARMX2_HUMAN
ID ARMX2_HUMAN Reviewed; 632 AA.
AC Q7L311; O60267; Q5H9D9;
DT 20-DEC-2005, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Armadillo repeat-containing X-linked protein 2;
DE AltName: Full=ARM protein lost in epithelial cancers on chromosome X 2;
DE Short=Protein ALEX2;
GN Name=ARMCX2; Synonyms=ALEX2, KIAA0512;
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=Brain;
RX PubMed=9628581; DOI=10.1093/dnares/5.1.31;
RA Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N.,
RA Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. IX. The
RT complete sequences of 100 new cDNA clones from brain which can code for
RT large proteins in vitro.";
RL DNA Res. 5:31-39(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta, and Skin;
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=11162520; DOI=10.1006/bbrc.2000.4125;
RA Kurochkin I.V., Yonemitsu N., Funahashi S., Nomura H.;
RT "ALEX1, a novel human armadillo repeat protein that is expressed
RT differentially in normal tissues and carcinomas.";
RL Biochem. Biophys. Res. Commun. 280:340-347(2001).
CC -!- FUNCTION: May regulate the dynamics and distribution of mitochondria in
CC neural cells. {ECO:0000250|UniProtKB:Q6A058}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:Q6A058}.
CC Mitochondrion outer membrane {ECO:0000250|UniProtKB:Q8BHS6}; Single-
CC pass membrane protein {ECO:0000255}.
CC -!- TISSUE SPECIFICITY: Expressed at high levels ovary, heart, testis,
CC prostate, brain, spleen and colon. Expressed at very low levels in
CC liver and thymus. Not expressed in peripheral blood leukocytes. Not
CC expressed in pancreas and ovarian carcinomas.
CC {ECO:0000269|PubMed:11162520}.
CC -!- SIMILARITY: Belongs to the eutherian X-chromosome-specific Armcx
CC family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA25438.2; Type=Erroneous initiation; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/ALEX2Xq22ID478.html";
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DR EMBL; AB011084; BAA25438.2; ALT_INIT; mRNA.
DR EMBL; Z83131; CAI42019.1; -; Genomic_DNA.
DR EMBL; Z83131; CAI42022.1; -; Genomic_DNA.
DR EMBL; BC012541; AAH12541.1; -; mRNA.
DR EMBL; BC015926; AAH15926.1; -; mRNA.
DR CCDS; CCDS14490.1; -.
DR PIR; T00084; T00084.
DR RefSeq; NP_001269160.1; NM_001282231.1.
DR RefSeq; NP_055597.1; NM_014782.6.
DR RefSeq; NP_808818.1; NM_177949.3.
DR RefSeq; XP_005278166.1; XM_005278109.1.
DR RefSeq; XP_005278167.1; XM_005278110.1.
DR RefSeq; XP_005278168.1; XM_005278111.1.
DR RefSeq; XP_005278170.1; XM_005278113.1.
DR RefSeq; XP_005278171.1; XM_005278114.1.
DR RefSeq; XP_005278172.1; XM_005278115.1.
DR RefSeq; XP_005278173.1; XM_005278116.1.
DR RefSeq; XP_005278174.1; XM_005278117.1.
DR RefSeq; XP_011529373.1; XM_011531071.1.
DR RefSeq; XP_011529374.1; XM_011531072.1.
DR RefSeq; XP_016885476.1; XM_017029987.1.
DR RefSeq; XP_016885477.1; XM_017029988.1.
DR RefSeq; XP_016885478.1; XM_017029989.1.
DR RefSeq; XP_016885479.1; XM_017029990.1.
DR RefSeq; XP_016885480.1; XM_017029991.1.
DR RefSeq; XP_016885481.1; XM_017029992.1.
DR RefSeq; XP_016885482.1; XM_017029993.1.
DR RefSeq; XP_016885483.1; XM_017029994.1.
DR RefSeq; XP_016885484.1; XM_017029995.1.
DR RefSeq; XP_016885485.1; XM_017029996.1.
DR RefSeq; XP_016885486.1; XM_017029997.1.
DR AlphaFoldDB; Q7L311; -.
DR SMR; Q7L311; -.
DR BioGRID; 115161; 27.
DR IntAct; Q7L311; 5.
DR STRING; 9606.ENSP00000331662; -.
DR iPTMnet; Q7L311; -.
DR PhosphoSitePlus; Q7L311; -.
DR BioMuta; ARMCX2; -.
DR DMDM; 74759000; -.
DR EPD; Q7L311; -.
DR jPOST; Q7L311; -.
DR MassIVE; Q7L311; -.
DR MaxQB; Q7L311; -.
DR PaxDb; Q7L311; -.
DR PeptideAtlas; Q7L311; -.
DR PRIDE; Q7L311; -.
DR ProteomicsDB; 68769; -.
DR Antibodypedia; 28782; 158 antibodies from 26 providers.
DR DNASU; 9823; -.
DR Ensembl; ENST00000328766.9; ENSP00000331662.5; ENSG00000184867.14.
DR Ensembl; ENST00000330154.6; ENSP00000328631.2; ENSG00000184867.14.
DR Ensembl; ENST00000356824.9; ENSP00000349281.4; ENSG00000184867.14.
DR GeneID; 9823; -.
DR KEGG; hsa:9823; -.
DR MANE-Select; ENST00000356824.9; ENSP00000349281.4; NM_177949.4; NP_808818.1.
DR UCSC; uc004eid.3; human.
DR CTD; 9823; -.
DR DisGeNET; 9823; -.
DR GeneCards; ARMCX2; -.
DR HGNC; HGNC:16869; ARMCX2.
DR HPA; ENSG00000184867; Tissue enhanced (epididymis).
DR MIM; 300363; gene.
DR neXtProt; NX_Q7L311; -.
DR OpenTargets; ENSG00000184867; -.
DR PharmGKB; PA134985862; -.
DR VEuPathDB; HostDB:ENSG00000184867; -.
DR eggNOG; ENOG502QQ2D; Eukaryota.
DR GeneTree; ENSGT00940000163008; -.
DR HOGENOM; CLU_028273_0_0_1; -.
DR InParanoid; Q7L311; -.
DR OMA; GRNHMMK; -.
DR OrthoDB; 860703at2759; -.
DR PhylomeDB; Q7L311; -.
DR TreeFam; TF335652; -.
DR PathwayCommons; Q7L311; -.
DR SignaLink; Q7L311; -.
DR BioGRID-ORCS; 9823; 7 hits in 693 CRISPR screens.
DR ChiTaRS; ARMCX2; human.
DR GenomeRNAi; 9823; -.
DR Pharos; Q7L311; Tbio.
DR PRO; PR:Q7L311; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q7L311; protein.
DR Bgee; ENSG00000184867; Expressed in corpus epididymis and 187 other tissues.
DR ExpressionAtlas; Q7L311; baseline and differential.
DR Genevisible; Q7L311; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005741; C:mitochondrial outer membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005739; C:mitochondrion; IBA:GO_Central.
DR Gene3D; 1.25.10.10; -; 1.
DR InterPro; IPR011989; ARM-like.
DR InterPro; IPR006911; ARM-rpt_dom.
DR InterPro; IPR016024; ARM-type_fold.
DR InterPro; IPR000225; Armadillo.
DR Pfam; PF04826; Arm_2; 1.
DR SMART; SM00185; ARM; 1.
DR SUPFAM; SSF48371; SSF48371; 1.
PE 2: Evidence at transcript level;
KW Membrane; Mitochondrion; Mitochondrion outer membrane; Reference proteome;
KW Repeat; Signal-anchor; Transmembrane; Transmembrane helix.
FT CHAIN 1..632
FT /note="Armadillo repeat-containing X-linked protein 2"
FT /id="PRO_0000191364"
FT TOPO_DOM 1..6
FT /note="Mitochondrial intermembrane"
FT /evidence="ECO:0000250|UniProtKB:Q8BHS6"
FT TRANSMEM 7..25
FT /note="Helical; Signal-anchor"
FT /evidence="ECO:0000255"
FT TOPO_DOM 26..632
FT /note="Cytoplasmic"
FT /evidence="ECO:0000250|UniProtKB:Q8BHS6"
FT REPEAT 376..416
FT /note="ARM 1"
FT /evidence="ECO:0000255"
FT REPEAT 418..457
FT /note="ARM 2"
FT /evidence="ECO:0000255"
FT REPEAT 498..537
FT /note="ARM 3"
FT /evidence="ECO:0000255"
FT REGION 1..6
FT /note="Mitochondrion outer membrane (MOM)-targeting
FT sequence"
FT /evidence="ECO:0000305"
FT REGION 26..40
FT /note="Mitochondrion outer membrane (MOM)-targeting
FT sequence"
FT /evidence="ECO:0000305"
FT REGION 68..124
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 160..304
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 335..369
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 632 AA; 65683 MW; 7627CBFFE61C329B CRC64;
MSRVRDAGCV AAGIVIGAGA WYCVYKYTRG RDQTKKRMAK PKNRAVAGTG ARARAGLRAG
FTIDLGSGFS PPTPVRAEAE DRAQDEASAL DTVGAEAVAP AASSAEAQSG AGSQAQEADG
AGVGPKAESV VGAAMASAIA PPPGVTEALG AAEAPAMAGA PKVAEAPREA ETSRAAVPPG
TVVPTEAAAP TEVTEGPGVA APTKVAEAPG VASPTEAAEA PVPATPTGAA APTGAAESPG
TSGSPRTAVV PGTSAAKKAT PGAHTGAIPK ATSATGAVPK GGGKGVTRSR NGGKGKGKKS
KVEVDELGMG FRPGDGAAAA AAASANGGQA FLAEVPDSEE GESGWTDTES DSDSEPETQR
RGRGRRPVAM QKRPFPYEID EILGVRDLRK VLALLQKSDD PFIQQVALLT LSNNANYSCN
QETIRKLGGL PIIANMINKT DPHIKEKALM AMNNLSENYE NQGRLQVYMN KVMDDIMASN
LNSAVQVVGL KFLTNMTITN DYQHLLVNSI ANFFRLLSQG GGKIKVEILK ILSNFAENPD
MLKKLLSTQV PASFSSLYNS YVESEILINA LTLFEIIYDN LRAEVFNYRE FNKGSLFYLC
TTSGVCVKKI RALANHHDLL VKVKVIKLVN KF
