LRCH2_HUMAN
ID LRCH2_HUMAN Reviewed; 765 AA.
AC Q5VUJ6; F5H2T1; Q08AD5; Q9HA88; Q9P233;
DT 17-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 150.
DE RecName: Full=Leucine-rich repeat and calponin homology domain-containing protein 2;
GN Name=LRCH2; Synonyms=KIAA1495;
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 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 264-765 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=10819331; DOI=10.1093/dnares/7.2.143;
RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:143-150(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 406-765 (ISOFORM 1).
RC TISSUE=Embryo;
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).
CC -!- FUNCTION: May play a role in the organization of the cytoskeleton.
CC {ECO:0000250|UniProtKB:Q960C5, ECO:0000250|UniProtKB:Q96II8}.
CC -!- INTERACTION:
CC Q5VUJ6; Q8NF50: DOCK8; NbExp=4; IntAct=EBI-2659666, EBI-2548605;
CC Q5VUJ6-2; Q8IYF3-3: TEX11; NbExp=3; IntAct=EBI-12287681, EBI-11523345;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5VUJ6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5VUJ6-2; Sequence=VSP_044969;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA96019.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AL121878; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL445164; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL589786; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC125224; AAI25225.1; -; mRNA.
DR EMBL; AK022128; BAB13966.1; -; mRNA.
DR EMBL; AB040928; BAA96019.1; ALT_INIT; mRNA.
DR CCDS; CCDS48155.1; -. [Q5VUJ6-1]
DR CCDS; CCDS59175.1; -. [Q5VUJ6-2]
DR RefSeq; NP_001230892.1; NM_001243963.1. [Q5VUJ6-2]
DR RefSeq; NP_065922.3; NM_020871.3. [Q5VUJ6-1]
DR AlphaFoldDB; Q5VUJ6; -.
DR SMR; Q5VUJ6; -.
DR BioGRID; 121674; 55.
DR IntAct; Q5VUJ6; 28.
DR MINT; Q5VUJ6; -.
DR STRING; 9606.ENSP00000325091; -.
DR iPTMnet; Q5VUJ6; -.
DR PhosphoSitePlus; Q5VUJ6; -.
DR BioMuta; LRCH2; -.
DR DMDM; 116248529; -.
DR EPD; Q5VUJ6; -.
DR jPOST; Q5VUJ6; -.
DR MassIVE; Q5VUJ6; -.
DR MaxQB; Q5VUJ6; -.
DR PaxDb; Q5VUJ6; -.
DR PeptideAtlas; Q5VUJ6; -.
DR PRIDE; Q5VUJ6; -.
DR ProteomicsDB; 26063; -.
DR ProteomicsDB; 65420; -. [Q5VUJ6-1]
DR Antibodypedia; 517; 50 antibodies from 14 providers.
DR DNASU; 57631; -.
DR Ensembl; ENST00000317135.13; ENSP00000325091.8; ENSG00000130224.15. [Q5VUJ6-1]
DR Ensembl; ENST00000538422.2; ENSP00000439366.1; ENSG00000130224.15. [Q5VUJ6-2]
DR GeneID; 57631; -.
DR KEGG; hsa:57631; -.
DR MANE-Select; ENST00000317135.13; ENSP00000325091.8; NM_020871.4; NP_065922.3.
DR UCSC; uc004epz.4; human. [Q5VUJ6-1]
DR CTD; 57631; -.
DR GeneCards; LRCH2; -.
DR HGNC; HGNC:29292; LRCH2.
DR HPA; ENSG00000130224; Low tissue specificity.
DR neXtProt; NX_Q5VUJ6; -.
DR OpenTargets; ENSG00000130224; -.
DR PharmGKB; PA134890613; -.
DR VEuPathDB; HostDB:ENSG00000130224; -.
DR eggNOG; KOG0532; Eukaryota.
DR GeneTree; ENSGT00940000160039; -.
DR HOGENOM; CLU_008231_1_0_1; -.
DR InParanoid; Q5VUJ6; -.
DR OMA; DGQQSSH; -.
DR OrthoDB; 378148at2759; -.
DR PhylomeDB; Q5VUJ6; -.
DR TreeFam; TF318428; -.
DR PathwayCommons; Q5VUJ6; -.
DR SignaLink; Q5VUJ6; -.
DR BioGRID-ORCS; 57631; 13 hits in 695 CRISPR screens.
DR ChiTaRS; LRCH2; human.
DR GenomeRNAi; 57631; -.
DR Pharos; Q5VUJ6; Tdark.
DR PRO; PR:Q5VUJ6; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q5VUJ6; protein.
DR Bgee; ENSG00000130224; Expressed in ganglionic eminence and 146 other tissues.
DR Genevisible; Q5VUJ6; HS.
DR Gene3D; 1.10.418.10; -; 1.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR001715; CH-domain.
DR InterPro; IPR036872; CH_dom_sf.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR003591; Leu-rich_rpt_typical-subtyp.
DR InterPro; IPR032675; LRR_dom_sf.
DR Pfam; PF00307; CH; 1.
DR Pfam; PF13855; LRR_8; 2.
DR SMART; SM00033; CH; 1.
DR SMART; SM00369; LRR_TYP; 5.
DR SUPFAM; SSF47576; SSF47576; 1.
DR PROSITE; PS50021; CH; 1.
DR PROSITE; PS51450; LRR; 8.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Leucine-rich repeat; Reference proteome;
KW Repeat.
FT CHAIN 1..765
FT /note="Leucine-rich repeat and calponin homology domain-
FT containing protein 2"
FT /id="PRO_0000253482"
FT REPEAT 89..110
FT /note="LRR 1"
FT REPEAT 112..133
FT /note="LRR 2"
FT REPEAT 135..156
FT /note="LRR 3"
FT REPEAT 158..179
FT /note="LRR 4"
FT REPEAT 180..201
FT /note="LRR 5"
FT REPEAT 203..224
FT /note="LRR 6"
FT REPEAT 226..248
FT /note="LRR 7"
FT REPEAT 249..269
FT /note="LRR 8"
FT REPEAT 271..292
FT /note="LRR 9"
FT DOMAIN 642..755
FT /note="Calponin-homology (CH)"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00044"
FT REGION 1..39
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 55..76
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 316..401
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 498..552
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 565..628
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 438..472
FT /evidence="ECO:0000255"
FT COMPBIAS 321..335
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 364..391
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 510..533
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 579..599
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 580..596
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_044969"
FT CONFLICT 710
FT /note="R -> K (in Ref. 2; AAI25225)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 765 AA; 84588 MW; 89A56712621F52F9 CRC64;
MAASQGGGGN SGGGGCGGGG SSGGCGTAGG GGGGAGGGGG GGGGTLVVPI PVPTLFGQPF
PNGPPWNPGS LQPQHTVRSL DRALEEAGSS GILSLSGRKL RDFPGSGYDL TDTTQADLSR
NRFTEIPSDV WLFAPLETLN LYHNCIKTIP EAIKNLQMLT YLNISRNLLS TLPKYLFDLP
LKVLVVSNNK LVSIPEEIGK LKDLMELDIS CNEIQVLPQQ MGKLHSLREL NIRRNNLHVL
PDELGDLPLV KLDFSCNKVT EIPVCYRKLH HLQVIILDNN PLQVPPAQIC LKGKVHIFKY
LNIQACCRMD KKPDSLDLPS LSKRMPSQPL TDSMEDFYPN KNHGPDSGIG SDNGEKRLST
TEPSDDDTVS LHSQVSESNR EQTSRNDSHI IGSKTDSQKD QEVYDFVDPN TEDVAVPEQG
NAHIGSFVSF FKGKEKCSEK SRKNEELGDE KRLEKEQLLA EEEDDDLKEV TDLRKIAAQL
LQQEQKNRIL NHSTSVMRNK PKQTVECEKS VSADEVNSPL SPLTWQPLEN QKDQIDEQPW
PESHPIIWQS EERRRSKQIR KEYFKYKSMR KSSSGNENDE QDSDNANMST QSPVSSEEYD
RTDGFSHSPF GLKPRSAFSR SSRQEYGAAD PGFTMRRKME HLREEREQIR QLRNNLESRL
KVILPDDIGA ALMDGVVLCH LANHIRPRSV ASIHVPSPAV PKLSMAKCRR NVENFLDACK
KLGVSQERLC LPHHILEERG LVKVGVTVQA LLELPTTKAS QLSVA