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Q8NDZ0

- BEND2_HUMAN

UniProt

Q8NDZ0 - BEND2_HUMAN

Protein

BEN domain-containing protein 2

Gene

BEND2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 89 (01 Oct 2014)
      Sequence version 2 (19 Jul 2005)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    BEN domain-containing protein 2
    Gene namesi
    Name:BEND2
    Synonyms:CXorf20
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:28509. BEND2.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA164716507.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 799799BEN domain-containing protein 2PRO_0000079730Add
    BLAST

    Proteomic databases

    PaxDbiQ8NDZ0.
    PRIDEiQ8NDZ0.

    PTM databases

    PhosphoSiteiQ8NDZ0.

    Expressioni

    Gene expression databases

    BgeeiQ8NDZ0.
    CleanExiHS_BEND2.
    GenevestigatoriQ8NDZ0.

    Organism-specific databases

    HPAiHPA009420.
    HPA012769.

    Interactioni

    Protein-protein interaction databases

    BioGridi126543. 2 interactions.
    IntActiQ8NDZ0. 1 interaction.
    MINTiMINT-2878786.
    STRINGi9606.ENSP00000369372.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NDZ0.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini483 – 582100BEN 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini667 – 76599BEN 2PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 2 BEN domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG41184.
    HOGENOMiHOG000095198.
    HOVERGENiHBG081386.
    InParanoidiQ8NDZ0.
    OMAiETHAWAS.
    OrthoDBiEOG7Q5HDJ.
    PhylomeDBiQ8NDZ0.
    TreeFamiTF336206.

    Family and domain databases

    InterProiIPR018379. BEN_domain.
    IPR029484. GVQW.
    [Graphical view]
    PfamiPF10523. BEN. 2 hits.
    PF13900. GVQW. 1 hit.
    [Graphical view]
    SMARTiSM01025. BEN. 2 hits.
    [Graphical view]
    PROSITEiPS51457. BEN. 2 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8NDZ0-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MSERTQEQDF VIITVDDSDD NNDCSIEMVE VSETADNSTN DIADDSTYVT    50
    ADNPTDDTAT QPNFPGGNDG HHRPLQMSYG SGSVTQAGVQ WHDHSSLQPQ 100
    PLGLKQFFHL SLPSSWDDRR TPPCPVAHGD QIVSQINHPV HLRRYSYNSE 150
    EVDFPKRGRF YTPEVQSSIS PPAERQETHA WASPAVTSLE SAACHELQEA 200
    DLSESLSYPR IVSSSSLQQY VAQGGSFPCF GMPWNFISGG AESTNAVISF 250
    ANATTAVPMA VLSRRESSLA NNPGVVNYSA LPENENVGPG RALSSFCFHP 300
    NLEMPERPAN SSKNSTETAN YPTLMGNYNG QNTASLSVFI PPYFAEKIIL 350
    TEMPGTTETN VENNSQTVYY PALSGNTSAP YPASSYLPIT SNFESGPQMS 400
    YGTMSYSTEM KNNCDQDDAS ASACLTPDFA LLPLNILVKV DTNTENSVNT 450
    MNRSTLLDSD SGQDSSSSSV CIPPKYGYLG DPKRNVRVLK IHLLAVQNMA 500
    KPKQAACYLV RILFSKEILI SSSVDIHLKD SQSLDPNKMA ALREYLATTF 550
    PTCDLHEHGK DWQDCISGIN SMIYCLCSEG KSTPKTVRKN KKRTNRVASA 600
    SADRNDQRGR DGGEGCSWMF QPMNNSKMRE KRNLQPNSNA IPEGMREPST 650
    DNPEEPGEAW SYFGRPWRNI RMPCSVLTLA KTKSCASLSA RYLIQKLFTK 700
    DVLVQSNVYG NLKHGLCALD PNKISALREF LQENYPICDL SENGRDWKSC 750
    VTSINSGIRS LRHDVRRAEA RSQSLPAVTP PELEQESKPG DPDATDPST 799
    Length:799
    Mass (Da):87,919
    Last modified:July 19, 2005 - v2
    Checksum:iFB6FE275C51F5A7B
    GO
    Isoform 2 (identifier: Q8NDZ0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         303-393: Missing.
         729-799: EFLQENYPIC...GDPDATDPST → GLLHIEYV

    Note: No experimental confirmation available.

    Show »
    Length:645
    Mass (Da):71,075
    Checksum:iF0F06BC1CDCFCEDF
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti439 – 4391K → E in AAH96745. (PubMed:15489334)Curated
    Sequence conflicti630 – 6301E → V in AAH37301. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti154 – 1541F → L.
    Corresponds to variant rs17274127 [ dbSNP | Ensembl ].
    VAR_022885
    Natural varianti188 – 1881S → F.
    Corresponds to variant rs12859329 [ dbSNP | Ensembl ].
    VAR_050935

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei303 – 39391Missing in isoform 2. 1 PublicationVSP_044653Add
    BLAST
    Alternative sequencei729 – 79971EFLQE…TDPST → GLLHIEYV in isoform 2. 1 PublicationVSP_044654Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL096763 Genomic DNA. Translation: CAI42219.1.
    BC037301 mRNA. Translation: AAH37301.1.
    BC096745 mRNA. Translation: AAH96745.1.
    CCDSiCCDS14184.1. [Q8NDZ0-1]
    CCDS55375.1. [Q8NDZ0-2]
    RefSeqiNP_001171696.1. NM_001184767.1. [Q8NDZ0-2]
    NP_699177.2. NM_153346.4. [Q8NDZ0-1]
    UniGeneiHs.403802.

    Genome annotation databases

    EnsembliENST00000380030; ENSP00000369369; ENSG00000177324. [Q8NDZ0-2]
    ENST00000380033; ENSP00000369372; ENSG00000177324. [Q8NDZ0-1]
    GeneIDi139105.
    KEGGihsa:139105.
    UCSCiuc004cyj.4. human. [Q8NDZ0-1]

    Polymorphism databases

    DMDMi71153248.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL096763 Genomic DNA. Translation: CAI42219.1 .
    BC037301 mRNA. Translation: AAH37301.1 .
    BC096745 mRNA. Translation: AAH96745.1 .
    CCDSi CCDS14184.1. [Q8NDZ0-1 ]
    CCDS55375.1. [Q8NDZ0-2 ]
    RefSeqi NP_001171696.1. NM_001184767.1. [Q8NDZ0-2 ]
    NP_699177.2. NM_153346.4. [Q8NDZ0-1 ]
    UniGenei Hs.403802.

    3D structure databases

    ProteinModelPortali Q8NDZ0.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 126543. 2 interactions.
    IntActi Q8NDZ0. 1 interaction.
    MINTi MINT-2878786.
    STRINGi 9606.ENSP00000369372.

    PTM databases

    PhosphoSitei Q8NDZ0.

    Polymorphism databases

    DMDMi 71153248.

    Proteomic databases

    PaxDbi Q8NDZ0.
    PRIDEi Q8NDZ0.

    Protocols and materials databases

    DNASUi 139105.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000380030 ; ENSP00000369369 ; ENSG00000177324 . [Q8NDZ0-2 ]
    ENST00000380033 ; ENSP00000369372 ; ENSG00000177324 . [Q8NDZ0-1 ]
    GeneIDi 139105.
    KEGGi hsa:139105.
    UCSCi uc004cyj.4. human. [Q8NDZ0-1 ]

    Organism-specific databases

    CTDi 139105.
    GeneCardsi GC0XM018091.
    HGNCi HGNC:28509. BEND2.
    HPAi HPA009420.
    HPA012769.
    neXtProti NX_Q8NDZ0.
    PharmGKBi PA164716507.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG41184.
    HOGENOMi HOG000095198.
    HOVERGENi HBG081386.
    InParanoidi Q8NDZ0.
    OMAi ETHAWAS.
    OrthoDBi EOG7Q5HDJ.
    PhylomeDBi Q8NDZ0.
    TreeFami TF336206.

    Miscellaneous databases

    GenomeRNAii 139105.
    NextBioi 83896.
    PROi Q8NDZ0.

    Gene expression databases

    Bgeei Q8NDZ0.
    CleanExi HS_BEND2.
    Genevestigatori Q8NDZ0.

    Family and domain databases

    InterProi IPR018379. BEN_domain.
    IPR029484. GVQW.
    [Graphical view ]
    Pfami PF10523. BEN. 2 hits.
    PF13900. GVQW. 1 hit.
    [Graphical view ]
    SMARTi SM01025. BEN. 2 hits.
    [Graphical view ]
    PROSITEi PS51457. BEN. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Testis.

    Entry informationi

    Entry nameiBEND2_HUMAN
    AccessioniPrimary (citable) accession number: Q8NDZ0
    Secondary accession number(s): E9PFY2, Q4V9S2, Q5JXE5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 19, 2005
    Last sequence update: July 19, 2005
    Last modified: October 1, 2014
    This is version 89 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3