BEND2_HUMAN
ID BEND2_HUMAN Reviewed; 799 AA.
AC Q8NDZ0; E9PFY2; Q4V9S2; Q5JXE5;
DT 19-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 19-JUL-2005, sequence version 2.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=BEN domain-containing protein 2;
GN Name=BEND2; Synonyms=CXorf20;
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] (ISOFORMS 1 AND 2).
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).
CC -!- INTERACTION:
CC Q8NDZ0; Q9NYG5-2: ANAPC11; NbExp=3; IntAct=EBI-954079, EBI-12224467;
CC Q8NDZ0; P50458: LHX2; NbExp=3; IntAct=EBI-954079, EBI-12179869;
CC Q8NDZ0; P86480: PRR20D; NbExp=3; IntAct=EBI-954079, EBI-12754095;
CC Q8NDZ0; Q15428: SF3A2; NbExp=3; IntAct=EBI-954079, EBI-2462271;
CC Q8NDZ0; O95789-4: ZMYM6; NbExp=3; IntAct=EBI-954079, EBI-12949277;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8NDZ0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NDZ0-2; Sequence=VSP_044653, VSP_044654;
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DR EMBL; AL096763; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC037301; AAH37301.1; -; mRNA.
DR EMBL; BC096745; AAH96745.1; -; mRNA.
DR CCDS; CCDS14184.1; -. [Q8NDZ0-1]
DR CCDS; CCDS55375.1; -. [Q8NDZ0-2]
DR RefSeq; NP_001171696.1; NM_001184767.1. [Q8NDZ0-2]
DR RefSeq; NP_699177.2; NM_153346.4. [Q8NDZ0-1]
DR AlphaFoldDB; Q8NDZ0; -.
DR SMR; Q8NDZ0; -.
DR BioGRID; 126543; 11.
DR IntAct; Q8NDZ0; 6.
DR STRING; 9606.ENSP00000369372; -.
DR iPTMnet; Q8NDZ0; -.
DR PhosphoSitePlus; Q8NDZ0; -.
DR BioMuta; BEND2; -.
DR DMDM; 71153248; -.
DR MassIVE; Q8NDZ0; -.
DR PaxDb; Q8NDZ0; -.
DR PeptideAtlas; Q8NDZ0; -.
DR PRIDE; Q8NDZ0; -.
DR ProteomicsDB; 20203; -.
DR ProteomicsDB; 73095; -. [Q8NDZ0-1]
DR Antibodypedia; 550; 74 antibodies from 16 providers.
DR DNASU; 139105; -.
DR Ensembl; ENST00000380030.4; ENSP00000369369.3; ENSG00000177324.14. [Q8NDZ0-2]
DR Ensembl; ENST00000380033.9; ENSP00000369372.4; ENSG00000177324.14. [Q8NDZ0-1]
DR GeneID; 139105; -.
DR KEGG; hsa:139105; -.
DR MANE-Select; ENST00000380033.9; ENSP00000369372.4; NM_153346.5; NP_699177.2.
DR UCSC; uc004cyj.5; human. [Q8NDZ0-1]
DR CTD; 139105; -.
DR DisGeNET; 139105; -.
DR GeneCards; BEND2; -.
DR HGNC; HGNC:28509; BEND2.
DR HPA; ENSG00000177324; Tissue enriched (testis).
DR neXtProt; NX_Q8NDZ0; -.
DR OpenTargets; ENSG00000177324; -.
DR PharmGKB; PA164716507; -.
DR VEuPathDB; HostDB:ENSG00000177324; -.
DR eggNOG; ENOG502QW8J; Eukaryota.
DR GeneTree; ENSGT00940000164688; -.
DR HOGENOM; CLU_014591_0_0_1; -.
DR InParanoid; Q8NDZ0; -.
DR OMA; GRDWKLC; -.
DR OrthoDB; 461862at2759; -.
DR PhylomeDB; Q8NDZ0; -.
DR TreeFam; TF336206; -.
DR PathwayCommons; Q8NDZ0; -.
DR SignaLink; Q8NDZ0; -.
DR BioGRID-ORCS; 139105; 13 hits in 692 CRISPR screens.
DR ChiTaRS; BEND2; human.
DR GenomeRNAi; 139105; -.
DR Pharos; Q8NDZ0; Tdark.
DR PRO; PR:Q8NDZ0; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q8NDZ0; protein.
DR Bgee; ENSG00000177324; Expressed in monocyte and 21 other tissues.
DR Genevisible; Q8NDZ0; HS.
DR GO; GO:0003677; F:DNA binding; IEA:InterPro.
DR InterPro; IPR018379; BEN_domain.
DR InterPro; IPR042810; BEND2.
DR PANTHER; PTHR47305; PTHR47305; 2.
DR Pfam; PF10523; BEN; 2.
DR SMART; SM01025; BEN; 2.
DR PROSITE; PS51457; BEN; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome; Repeat.
FT CHAIN 1..799
FT /note="BEN domain-containing protein 2"
FT /id="PRO_0000079730"
FT DOMAIN 483..582
FT /note="BEN 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00784"
FT DOMAIN 667..765
FT /note="BEN 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00784"
FT REGION 32..73
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 584..616
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 629..656
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 768..799
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 32..65
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 596..611
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 629..645
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 303..393
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_044653"
FT VAR_SEQ 729..799
FT /note="EFLQENYPICDLSENGRDWKSCVTSINSGIRSLRHDVRRAEARSQSLPAVTP
FT PELEQESKPGDPDATDPST -> GLLHIEYV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_044654"
FT VARIANT 154
FT /note="F -> L (in dbSNP:rs17274127)"
FT /id="VAR_022885"
FT VARIANT 188
FT /note="S -> F (in dbSNP:rs12859329)"
FT /id="VAR_050935"
FT CONFLICT 439
FT /note="K -> E (in Ref. 2; AAH96745)"
FT /evidence="ECO:0000305"
FT CONFLICT 630
FT /note="E -> V (in Ref. 2; AAH37301)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 799 AA; 87919 MW; FB6FE275C51F5A7B CRC64;
MSERTQEQDF VIITVDDSDD NNDCSIEMVE VSETADNSTN DIADDSTYVT ADNPTDDTAT
QPNFPGGNDG HHRPLQMSYG SGSVTQAGVQ WHDHSSLQPQ PLGLKQFFHL SLPSSWDDRR
TPPCPVAHGD QIVSQINHPV HLRRYSYNSE EVDFPKRGRF YTPEVQSSIS PPAERQETHA
WASPAVTSLE SAACHELQEA DLSESLSYPR IVSSSSLQQY VAQGGSFPCF GMPWNFISGG
AESTNAVISF ANATTAVPMA VLSRRESSLA NNPGVVNYSA LPENENVGPG RALSSFCFHP
NLEMPERPAN SSKNSTETAN YPTLMGNYNG QNTASLSVFI PPYFAEKIIL TEMPGTTETN
VENNSQTVYY PALSGNTSAP YPASSYLPIT SNFESGPQMS YGTMSYSTEM KNNCDQDDAS
ASACLTPDFA LLPLNILVKV DTNTENSVNT MNRSTLLDSD SGQDSSSSSV CIPPKYGYLG
DPKRNVRVLK IHLLAVQNMA KPKQAACYLV RILFSKEILI SSSVDIHLKD SQSLDPNKMA
ALREYLATTF PTCDLHEHGK DWQDCISGIN SMIYCLCSEG KSTPKTVRKN KKRTNRVASA
SADRNDQRGR DGGEGCSWMF QPMNNSKMRE KRNLQPNSNA IPEGMREPST DNPEEPGEAW
SYFGRPWRNI RMPCSVLTLA KTKSCASLSA RYLIQKLFTK DVLVQSNVYG NLKHGLCALD
PNKISALREF LQENYPICDL SENGRDWKSC VTSINSGIRS LRHDVRRAEA RSQSLPAVTP
PELEQESKPG DPDATDPST
