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Q8NDZ0

- BEND2_HUMAN

UniProt

Q8NDZ0 - BEND2_HUMAN

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Protein
BEN domain-containing protein 2
Gene
BEND2, CXorf20
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5 - Experimental evidence at transcript leveli

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 2
PRO_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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini483 – 582100BEN 1
Add
BLAST
Domaini667 – 76599BEN 2
Add
BLAST

Sequence similaritiesi

Contains 2 BEN domains.

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

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.
VSP_044653Add
BLAST
Alternative sequencei729 – 79971EFLQE…TDPST → GLLHIEYV in isoform 2.
VSP_044654Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti439 – 4391K → E in AAH96745. 1 Publication
Sequence conflicti630 – 6301E → V in AAH37301. 1 Publication

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: July 9, 2014
This is version 88 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

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