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Protein

BEN domain-containing protein 2

Gene

BEND2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:28509. BEND2.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA164716507.

Polymorphism and mutation databases

BioMutaiBEND2.
DMDMi71153248.

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.
HPA013142.

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.
GeneTreeiENSGT00510000049851.
HOGENOMiHOG000095198.
HOVERGENiHBG081386.
InParanoidiQ8NDZ0.
OMAiETHAWAS.
OrthoDBiEOG7Q5HDJ.
PhylomeDBiQ8NDZ0.
TreeFamiTF336206.

Family and domain databases

InterProiIPR018379. BEN_domain.
[Graphical view]
PfamiPF10523. BEN. 2 hits.
[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. AlignAdd to basket

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

        10         20         30         40         50
MSERTQEQDF VIITVDDSDD NNDCSIEMVE VSETADNSTN DIADDSTYVT
60 70 80 90 100
ADNPTDDTAT QPNFPGGNDG HHRPLQMSYG SGSVTQAGVQ WHDHSSLQPQ
110 120 130 140 150
PLGLKQFFHL SLPSSWDDRR TPPCPVAHGD QIVSQINHPV HLRRYSYNSE
160 170 180 190 200
EVDFPKRGRF YTPEVQSSIS PPAERQETHA WASPAVTSLE SAACHELQEA
210 220 230 240 250
DLSESLSYPR IVSSSSLQQY VAQGGSFPCF GMPWNFISGG AESTNAVISF
260 270 280 290 300
ANATTAVPMA VLSRRESSLA NNPGVVNYSA LPENENVGPG RALSSFCFHP
310 320 330 340 350
NLEMPERPAN SSKNSTETAN YPTLMGNYNG QNTASLSVFI PPYFAEKIIL
360 370 380 390 400
TEMPGTTETN VENNSQTVYY PALSGNTSAP YPASSYLPIT SNFESGPQMS
410 420 430 440 450
YGTMSYSTEM KNNCDQDDAS ASACLTPDFA LLPLNILVKV DTNTENSVNT
460 470 480 490 500
MNRSTLLDSD SGQDSSSSSV CIPPKYGYLG DPKRNVRVLK IHLLAVQNMA
510 520 530 540 550
KPKQAACYLV RILFSKEILI SSSVDIHLKD SQSLDPNKMA ALREYLATTF
560 570 580 590 600
PTCDLHEHGK DWQDCISGIN SMIYCLCSEG KSTPKTVRKN KKRTNRVASA
610 620 630 640 650
SADRNDQRGR DGGEGCSWMF QPMNNSKMRE KRNLQPNSNA IPEGMREPST
660 670 680 690 700
DNPEEPGEAW SYFGRPWRNI RMPCSVLTLA KTKSCASLSA RYLIQKLFTK
710 720 730 740 750
DVLVQSNVYG NLKHGLCALD PNKISALREF LQENYPICDL SENGRDWKSC
760 770 780 790
VTSINSGIRS LRHDVRRAEA RSQSLPAVTP PELEQESKPG DPDATDPST
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:
EMBLi
GenBanki
DDBJi
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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ8NDZ0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

PTM databases

PhosphoSiteiQ8NDZ0.

Polymorphism and mutation databases

BioMutaiBEND2.
DMDMi71153248.

Proteomic databases

PaxDbiQ8NDZ0.
PRIDEiQ8NDZ0.

Protocols and materials databases

DNASUi139105.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi139105.
GeneCardsiGC0XM018091.
HGNCiHGNC:28509. BEND2.
HPAiHPA009420.
HPA012769.
HPA013142.
neXtProtiNX_Q8NDZ0.
PharmGKBiPA164716507.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG41184.
GeneTreeiENSGT00510000049851.
HOGENOMiHOG000095198.
HOVERGENiHBG081386.
InParanoidiQ8NDZ0.
OMAiETHAWAS.
OrthoDBiEOG7Q5HDJ.
PhylomeDBiQ8NDZ0.
TreeFamiTF336206.

Miscellaneous databases

GenomeRNAii139105.
NextBioi83896.
PROiQ8NDZ0.

Gene expression databases

BgeeiQ8NDZ0.
CleanExiHS_BEND2.
GenevestigatoriQ8NDZ0.

Family and domain databases

InterProiIPR018379. BEN_domain.
[Graphical view]
PfamiPF10523. BEN. 2 hits.
[Graphical view]
SMARTiSM01025. BEN. 2 hits.
[Graphical view]
PROSITEiPS51457. BEN. 2 hits.
[Graphical view]
ProtoNetiSearch...

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: April 29, 2015
This is version 94 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.