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Q8NDZ0 (BEND2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 88. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
BEN domain-containing protein 2
Gene names
Name:BEND2
Synonyms:CXorf20
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length799 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Sequence similarities

Contains 2 BEN domains.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8NDZ0-1)

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.
Isoform 2 (identifier: Q8NDZ0-2)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 799799BEN domain-containing protein 2
PRO_0000079730

Regions

Domain483 – 582100BEN 1
Domain667 – 76599BEN 2

Natural variations

Alternative sequence303 – 39391Missing in isoform 2.
VSP_044653
Alternative sequence729 – 79971EFLQE…TDPST → GLLHIEYV in isoform 2.
VSP_044654
Natural variant1541F → L.
Corresponds to variant rs17274127 [ dbSNP | Ensembl ].
VAR_022885
Natural variant1881S → F.
Corresponds to variant rs12859329 [ dbSNP | Ensembl ].
VAR_050935

Experimental info

Sequence conflict4391K → E in AAH96745. Ref.2
Sequence conflict6301E → V in AAH37301. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 19, 2005. Version 2.
Checksum: FB6FE275C51F5A7B

FASTA79987,919
        10         20         30         40         50         60 
MSERTQEQDF VIITVDDSDD NNDCSIEMVE VSETADNSTN DIADDSTYVT ADNPTDDTAT 

        70         80         90        100        110        120 
QPNFPGGNDG HHRPLQMSYG SGSVTQAGVQ WHDHSSLQPQ PLGLKQFFHL SLPSSWDDRR 

       130        140        150        160        170        180 
TPPCPVAHGD QIVSQINHPV HLRRYSYNSE EVDFPKRGRF YTPEVQSSIS PPAERQETHA 

       190        200        210        220        230        240 
WASPAVTSLE SAACHELQEA DLSESLSYPR IVSSSSLQQY VAQGGSFPCF GMPWNFISGG 

       250        260        270        280        290        300 
AESTNAVISF ANATTAVPMA VLSRRESSLA NNPGVVNYSA LPENENVGPG RALSSFCFHP 

       310        320        330        340        350        360 
NLEMPERPAN SSKNSTETAN YPTLMGNYNG QNTASLSVFI PPYFAEKIIL TEMPGTTETN 

       370        380        390        400        410        420 
VENNSQTVYY PALSGNTSAP YPASSYLPIT SNFESGPQMS YGTMSYSTEM KNNCDQDDAS 

       430        440        450        460        470        480 
ASACLTPDFA LLPLNILVKV DTNTENSVNT MNRSTLLDSD SGQDSSSSSV CIPPKYGYLG 

       490        500        510        520        530        540 
DPKRNVRVLK IHLLAVQNMA KPKQAACYLV RILFSKEILI SSSVDIHLKD SQSLDPNKMA 

       550        560        570        580        590        600 
ALREYLATTF PTCDLHEHGK DWQDCISGIN SMIYCLCSEG KSTPKTVRKN KKRTNRVASA 

       610        620        630        640        650        660 
SADRNDQRGR DGGEGCSWMF QPMNNSKMRE KRNLQPNSNA IPEGMREPST DNPEEPGEAW 

       670        680        690        700        710        720 
SYFGRPWRNI RMPCSVLTLA KTKSCASLSA RYLIQKLFTK DVLVQSNVYG NLKHGLCALD 

       730        740        750        760        770        780 
PNKISALREF LQENYPICDL SENGRDWKSC VTSINSGIRS LRHDVRRAEA RSQSLPAVTP 

       790 
PELEQESKPG DPDATDPST 

« Hide

Isoform 2 [UniParc].

Checksum: F0F06BC1CDCFCEDF
Show »

FASTA64571,075

References

[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. expand/collapse author list , 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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AL096763 Genomic DNA. Translation: CAI42219.1.
BC037301 mRNA. Translation: AAH37301.1.
BC096745 mRNA. Translation: AAH96745.1.
CCDSCCDS14184.1. [Q8NDZ0-1]
CCDS55375.1. [Q8NDZ0-2]
RefSeqNP_001171696.1. NM_001184767.1. [Q8NDZ0-2]
NP_699177.2. NM_153346.4. [Q8NDZ0-1]
UniGeneHs.403802.

3D structure databases

ProteinModelPortalQ8NDZ0.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid126543. 2 interactions.
IntActQ8NDZ0. 1 interaction.
MINTMINT-2878786.
STRING9606.ENSP00000369372.

PTM databases

PhosphoSiteQ8NDZ0.

Polymorphism databases

DMDM71153248.

Proteomic databases

PaxDbQ8NDZ0.
PRIDEQ8NDZ0.

Protocols and materials databases

DNASU139105.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000380030; ENSP00000369369; ENSG00000177324. [Q8NDZ0-2]
ENST00000380033; ENSP00000369372; ENSG00000177324. [Q8NDZ0-1]
GeneID139105.
KEGGhsa:139105.
UCSCuc004cyj.4. human. [Q8NDZ0-1]

Organism-specific databases

CTD139105.
GeneCardsGC0XM018091.
HGNCHGNC:28509. BEND2.
HPAHPA009420.
HPA012769.
neXtProtNX_Q8NDZ0.
PharmGKBPA164716507.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG41184.
HOGENOMHOG000095198.
HOVERGENHBG081386.
InParanoidQ8NDZ0.
OMAETHAWAS.
OrthoDBEOG7Q5HDJ.
PhylomeDBQ8NDZ0.
TreeFamTF336206.

Gene expression databases

BgeeQ8NDZ0.
CleanExHS_BEND2.
GenevestigatorQ8NDZ0.

Family and domain databases

InterProIPR018379. BEN_domain.
IPR029484. GVQW.
[Graphical view]
PfamPF10523. BEN. 2 hits.
PF13900. GVQW. 1 hit.
[Graphical view]
SMARTSM01025. BEN. 2 hits.
[Graphical view]
PROSITEPS51457. BEN. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi139105.
NextBio83896.
PROQ8NDZ0.

Entry information

Entry nameBEND2_HUMAN
AccessionPrimary (citable) accession number: Q8NDZ0
Secondary accession number(s): E9PFY2, Q4V9S2, Q5JXE5
Entry history
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 statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM