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P78314

- 3BP2_HUMAN

UniProt

P78314 - 3BP2_HUMAN

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Protein

SH3 domain-binding protein 2

Gene

SH3BP2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. Binds to phosphatidylinositols; linking the hemopoietic tyrosine kinase fes to the cytoplasmic membrane in a phosphorylation dependent mechanism.

GO - Molecular functioni

  1. SH3/SH2 adaptor activity Source: ProtInc

GO - Biological processi

  1. positive regulation of signal transduction Source: GOC
  2. signal transduction Source: ProtInc
Complete GO annotation...

Enzyme and pathway databases

SignaLinkiP78314.

Names & Taxonomyi

Protein namesi
Recommended name:
SH3 domain-binding protein 2
Short name:
3BP-2
Gene namesi
Name:SH3BP2
Synonyms:3BP2
ORF Names:RES4-23
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:10825. SH3BP2.

Pathology & Biotechi

Involvement in diseasei

Cherubism (CRBM) [MIM:118400]: An autosomal dominant syndrome characterized by excessive bone degradation of the upper and lower jaws, which often begins around three years of age. It is followed by development of fibrous tissue masses, which causes a characteristic facial swelling.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti415 – 4151R → P in CRBM. 1 Publication
VAR_013257
Natural varianti415 – 4151R → Q in CRBM. 1 Publication
VAR_013258
Natural varianti418 – 4181P → H in CRBM. 1 Publication
VAR_013259
Natural varianti418 – 4181P → L in CRBM. 1 Publication
VAR_013260
Natural varianti418 – 4181P → R in CRBM. 2 Publications
VAR_013261
Natural varianti420 – 4201G → E in CRBM. 1 Publication
Corresponds to variant rs28938171 [ dbSNP | Ensembl ].
VAR_013262
Natural varianti420 – 4201G → R in CRBM. 2 Publications
Corresponds to variant rs28938170 [ dbSNP | Ensembl ].
VAR_013263

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi118400. phenotype.
Orphaneti184. Cherubism.
PharmGKBiPA35733.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 561561SH3 domain-binding protein 2PRO_0000064365Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei174 – 1741Phosphotyrosine; by SYKBy similarity
Modified residuei183 – 1831Phosphotyrosine; by SYKBy similarity
Modified residuei278 – 2781Phosphoserine1 Publication
Modified residuei448 – 4481Phosphotyrosine; by SYKBy similarity

Post-translational modificationi

Phosphorylated. Phosphorylation at Tyr-448 may stimulate the activity of the LYN kinase (By similarity).By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP78314.
PaxDbiP78314.
PRIDEiP78314.

PTM databases

PhosphoSiteiP78314.

Expressioni

Tissue specificityi

Expressed in a variety of tissues including lung, liver, skeletal muscle, kidney and pancreas.1 Publication

Gene expression databases

BgeeiP78314.
CleanExiHS_SH3BP2.
ExpressionAtlasiP78314. baseline and differential.
GenevestigatoriP78314.

Organism-specific databases

HPAiHPA036790.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
DBNLQ9UJU67EBI-727062,EBI-751783
KITP107213EBI-727062,EBI-1379503
SH3KBP1Q96B978EBI-727062,EBI-346595
TNKS2Q9H2K25EBI-727062,EBI-4398527
VAV1P154988EBI-727062,EBI-625518
VAV2P527354EBI-727062,EBI-297549

Protein-protein interaction databases

BioGridi112350. 17 interactions.
IntActiP78314. 19 interactions.
MINTiMINT-254189.
STRINGi9606.ENSP00000348685.

Structurei

Secondary structure

1
561
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Turni455 – 4573Combined sources
Helixi464 – 47411Combined sources
Beta strandi485 – 4895Combined sources
Beta strandi496 – 5016Combined sources
Turni503 – 5053Combined sources
Beta strandi506 – 5083Combined sources
Beta strandi514 – 5163Combined sources
Beta strandi519 – 5257Combined sources
Beta strandi527 – 5304Combined sources
Helixi531 – 5388Combined sources
Beta strandi544 – 5485Combined sources
Beta strandi553 – 5564Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2CR4NMR-A446-558[»]
3TWRX-ray1.55E/F/G/H410-425[»]
ProteinModelPortaliP78314.
SMRiP78314. Positions 27-122, 444-560.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP78314.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini26 – 130105PHPROSITE-ProRule annotationAdd
BLAST
Domaini457 – 55599SH2PROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi201 – 21010SH3-binding

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi205 – 2128Poly-Pro
Compositional biasi236 – 2405Poly-Pro

Sequence similaritiesi

Contains 1 PH domain.PROSITE-ProRule annotation
Contains 1 SH2 domain.PROSITE-ProRule annotation

Keywords - Domaini

SH2 domain, SH3-binding

Phylogenomic databases

eggNOGiNOG42035.
GeneTreeiENSGT00390000002216.
HOVERGENiHBG000016.
InParanoidiP78314.
KOiK07984.
OMAiDFPRRER.
OrthoDBiEOG7DRJ2X.
PhylomeDBiP78314.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
3.30.505.10. 1 hit.
InterProiIPR001849. PH_domain.
IPR011993. PH_like_dom.
IPR000980. SH2.
[Graphical view]
PfamiPF00169. PH. 1 hit.
PF00017. SH2. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
SM00252. SH2. 1 hit.
[Graphical view]
SUPFAMiSSF55550. SSF55550. 1 hit.
PROSITEiPS50003. PH_DOMAIN. 1 hit.
PS50001. SH2. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P78314-1) [UniParc]FASTAAdd to Basket

Also known as: Long

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
MAAEEMHWPV PMKAIGAQNL LTMPGGVAKA GYLHKKGGTQ LQLLKWPLRF
60 70 80 90 100
VIIHKRCVYY FKSSTSASPQ GAFSLSGYNR VMRAAEETTS NNVFPFKIIH
110 120 130 140 150
ISKKHRTWFF SASSEEERKS WMALLRREIG HFHEKKDLPL DTSDSSSDTD
160 170 180 190 200
SFYGAVERPV DISLSPYPTD NEDYEHDDED DSYLEPDSPE PGRLEDALMH
210 220 230 240 250
PPAYPPPPVP TPRKPAFSDM PRAHSFTSKG PGPLLPPPPP KHGLPDVGLA
260 270 280 290 300
AEDSKRDPLC PRRAEPCPRV PATPRRMSDP PLSTMPTAPG LRKPPCFRES
310 320 330 340 350
ASPSPEPWTP GHGACSTSSA AIMATATSRN CDKLKSFHLS PRGPPTSEPP
360 370 380 390 400
PVPANKPKFL KIAEEDPPRE AAMPGLFVPP VAPRPPALKL PVPEAMARPA
410 420 430 440 450
VLPRPEKPQL PHLQRSPPDG QSFRSFSFEK PRQPSQADTG GDDSDEDYEK
460 470 480 490 500
VPLPNSVFVN TTESCEVERL FKATSPRGEP QDGLYCIRNS STKSGKVLVV
510 520 530 540 550
WDETSNKVRN YRIFEKDSKF YLEGEVLFVS VGSMVEHYHT HVLPSHQSLL
560
LRHPYGYTGP R
Length:561
Mass (Da):62,244
Last modified:July 15, 1998 - v2
Checksum:i69E6846A4F6D8F15
GO
Isoform 2 (identifier: P78314-2) [UniParc]FASTAAdd to Basket

Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     81-97: VMRAAEETTSNNVFPFK → QPRPQPAQALSQTEAGP
     98-561: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Show »
Length:97
Mass (Da):10,624
Checksum:i58CB0FBE9EB3A7FF
GO
Isoform 3 (identifier: P78314-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MASLGPRTPAPSRSRGRRAMCWVSTISFM

Note: No experimental confirmation available.

Show »
Length:589
Mass (Da):65,305
Checksum:iB41A1B1688245A77
GO
Isoform 4 (identifier: P78314-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MAGSGPRPRSWGRREAGARDEAAAAGGRGPGPCRCSQGRRAWIAPGKPAMPAAWTPFM

Note: No experimental confirmation available.

Show »
Length:618
Mass (Da):68,129
Checksum:i4A1A055BBB057AD9
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti27 – 271V → L in AAB59973. (PubMed:9734812)Curated
Sequence conflicti224 – 2241H → N in AAB59973. (PubMed:9734812)Curated
Sequence conflicti249 – 2491L → R in AAB59973. (PubMed:9734812)Curated
Sequence conflicti251 – 2511A → P in AAB59973. (PubMed:9734812)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti415 – 4151R → P in CRBM. 1 Publication
VAR_013257
Natural varianti415 – 4151R → Q in CRBM. 1 Publication
VAR_013258
Natural varianti418 – 4181P → H in CRBM. 1 Publication
VAR_013259
Natural varianti418 – 4181P → L in CRBM. 1 Publication
VAR_013260
Natural varianti418 – 4181P → R in CRBM. 2 Publications
VAR_013261
Natural varianti420 – 4201G → E in CRBM. 1 Publication
Corresponds to variant rs28938171 [ dbSNP | Ensembl ].
VAR_013262
Natural varianti420 – 4201G → R in CRBM. 2 Publications
Corresponds to variant rs28938170 [ dbSNP | Ensembl ].
VAR_013263

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MASLGPRTPAPSRSRGRRAM CWVSTISFM in isoform 3. 1 PublicationVSP_043636
Alternative sequencei1 – 11M → MAGSGPRPRSWGRREAGARD EAAAAGGRGPGPCRCSQGRR AWIAPGKPAMPAAWTPFM in isoform 4. CuratedVSP_055046
Alternative sequencei81 – 9717VMRAA…VFPFK → QPRPQPAQALSQTEAGP in isoform 2. 2 PublicationsVSP_004085Add
BLAST
Alternative sequencei98 – 561464Missing in isoform 2. 2 PublicationsVSP_004086Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF000936 mRNA. Translation: AAB59973.1.
U56386 mRNA. Translation: AAB72034.1.
AB000462 mRNA. Translation: BAA19119.1.
AB000463 mRNA. Translation: BAA19120.1.
AK299996 mRNA. Translation: BAG61816.1.
AK312286 mRNA. Translation: BAG35213.1.
AL121750 Genomic DNA. No translation available.
CH471131 Genomic DNA. Translation: EAW82509.1.
CH471131 Genomic DNA. Translation: EAW82510.1.
CH471131 Genomic DNA. Translation: EAW82511.1.
CH471131 Genomic DNA. Translation: EAW82512.1.
BC022996 mRNA. Translation: AAH22996.1.
CCDSiCCDS33944.1. [P78314-1]
CCDS54715.1. [P78314-3]
CCDS54716.1. [P78314-4]
RefSeqiNP_001116153.1. NM_001122681.1. [P78314-1]
NP_001139327.1. NM_001145855.1. [P78314-3]
NP_001139328.1. NM_001145856.1. [P78314-4]
NP_003014.3. NM_003023.4. [P78314-1]
XP_005248056.1. XM_005247999.2. [P78314-1]
UniGeneiHs.167679.

Genome annotation databases

EnsembliENST00000356331; ENSP00000348685; ENSG00000087266. [P78314-1]
ENST00000435136; ENSP00000403231; ENSG00000087266. [P78314-1]
ENST00000442312; ENSP00000388152; ENSG00000087266. [P78314-3]
ENST00000452765; ENSP00000409746; ENSG00000087266. [P78314-1]
ENST00000503393; ENSP00000422168; ENSG00000087266. [P78314-4]
ENST00000511747; ENSP00000424846; ENSG00000087266. [P78314-1]
ENST00000513020; ENSP00000424072; ENSG00000087266. [P78314-2]
ENST00000515737; ENSP00000422605; ENSG00000087266. [P78314-2]
GeneIDi6452.
KEGGihsa:6452.
UCSCiuc003gfi.4. human. [P78314-1]
uc011bvp.2. human. [P78314-3]

Polymorphism databases

DMDMi3023207.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF000936 mRNA. Translation: AAB59973.1 .
U56386 mRNA. Translation: AAB72034.1 .
AB000462 mRNA. Translation: BAA19119.1 .
AB000463 mRNA. Translation: BAA19120.1 .
AK299996 mRNA. Translation: BAG61816.1 .
AK312286 mRNA. Translation: BAG35213.1 .
AL121750 Genomic DNA. No translation available.
CH471131 Genomic DNA. Translation: EAW82509.1 .
CH471131 Genomic DNA. Translation: EAW82510.1 .
CH471131 Genomic DNA. Translation: EAW82511.1 .
CH471131 Genomic DNA. Translation: EAW82512.1 .
BC022996 mRNA. Translation: AAH22996.1 .
CCDSi CCDS33944.1. [P78314-1 ]
CCDS54715.1. [P78314-3 ]
CCDS54716.1. [P78314-4 ]
RefSeqi NP_001116153.1. NM_001122681.1. [P78314-1 ]
NP_001139327.1. NM_001145855.1. [P78314-3 ]
NP_001139328.1. NM_001145856.1. [P78314-4 ]
NP_003014.3. NM_003023.4. [P78314-1 ]
XP_005248056.1. XM_005247999.2. [P78314-1 ]
UniGenei Hs.167679.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2CR4 NMR - A 446-558 [» ]
3TWR X-ray 1.55 E/F/G/H 410-425 [» ]
ProteinModelPortali P78314.
SMRi P78314. Positions 27-122, 444-560.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112350. 17 interactions.
IntActi P78314. 19 interactions.
MINTi MINT-254189.
STRINGi 9606.ENSP00000348685.

PTM databases

PhosphoSitei P78314.

Polymorphism databases

DMDMi 3023207.

Proteomic databases

MaxQBi P78314.
PaxDbi P78314.
PRIDEi P78314.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000356331 ; ENSP00000348685 ; ENSG00000087266 . [P78314-1 ]
ENST00000435136 ; ENSP00000403231 ; ENSG00000087266 . [P78314-1 ]
ENST00000442312 ; ENSP00000388152 ; ENSG00000087266 . [P78314-3 ]
ENST00000452765 ; ENSP00000409746 ; ENSG00000087266 . [P78314-1 ]
ENST00000503393 ; ENSP00000422168 ; ENSG00000087266 . [P78314-4 ]
ENST00000511747 ; ENSP00000424846 ; ENSG00000087266 . [P78314-1 ]
ENST00000513020 ; ENSP00000424072 ; ENSG00000087266 . [P78314-2 ]
ENST00000515737 ; ENSP00000422605 ; ENSG00000087266 . [P78314-2 ]
GeneIDi 6452.
KEGGi hsa:6452.
UCSCi uc003gfi.4. human. [P78314-1 ]
uc011bvp.2. human. [P78314-3 ]

Organism-specific databases

CTDi 6452.
GeneCardsi GC04P002794.
GeneReviewsi SH3BP2.
HGNCi HGNC:10825. SH3BP2.
HPAi HPA036790.
MIMi 118400. phenotype.
602104. gene.
neXtProti NX_P78314.
Orphaneti 184. Cherubism.
PharmGKBi PA35733.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG42035.
GeneTreei ENSGT00390000002216.
HOVERGENi HBG000016.
InParanoidi P78314.
KOi K07984.
OMAi DFPRRER.
OrthoDBi EOG7DRJ2X.
PhylomeDBi P78314.

Enzyme and pathway databases

SignaLinki P78314.

Miscellaneous databases

ChiTaRSi SH3BP2. human.
EvolutionaryTracei P78314.
GenomeRNAii 6452.
NextBioi 25079.
PROi P78314.
SOURCEi Search...

Gene expression databases

Bgeei P78314.
CleanExi HS_SH3BP2.
ExpressionAtlasi P78314. baseline and differential.
Genevestigatori P78314.

Family and domain databases

Gene3Di 2.30.29.30. 1 hit.
3.30.505.10. 1 hit.
InterProi IPR001849. PH_domain.
IPR011993. PH_like_dom.
IPR000980. SH2.
[Graphical view ]
Pfami PF00169. PH. 1 hit.
PF00017. SH2. 1 hit.
[Graphical view ]
SMARTi SM00233. PH. 1 hit.
SM00252. SH2. 1 hit.
[Graphical view ]
SUPFAMi SSF55550. SSF55550. 1 hit.
PROSITEi PS50003. PH_DOMAIN. 1 hit.
PS50001. SH2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "3BP2 binds to phosphatidylinositols; linking the hemopoietic tyrosine kinase c-FES to the cytoplasmic membrane in a phosphorylation dependent mechanism."
    Gokemeijer J., Deligiannidis K.E., Ligris K., Ernst T.J.
    Blood 88:473A-473A(1996)
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Tonsil.
  2. "Identification and characterization of the human homologue of SH3BP2, an SH3 binding domain protein within a common region of deletion at 4p16.3 involved in bladder cancer."
    Bell S.M., Shaw M., Jou Y.-S., Myers R.M., Knowles M.A.
    Genomics 44:163-170(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. "The primary structure and genomic organization of five novel transcripts located close to the Huntington's disease gene on human chromosome 4p16.3."
    Hadano S., Ishida Y., Ikeda J.-E.
    DNA Res. 5:177-186(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY.
    Tissue: Brain.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
    Tissue: Cerebellum.
  5. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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] (ISOFORM 1).
    Tissue: Cervix.
  8. Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
  9. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-278, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. "Solution structure of the SH2 domain of human SH3BP2 protein."
    RIKEN structural genomics initiative (RSGI)
    Submitted (NOV-2005) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 444-558.
  11. Cited for: VARIANTS CRBM GLN-415; PRO-415; ARG-418; HIS-418; LEU-418; ARG-420 AND GLU-420.
  12. "Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism."
    Lo B., Faiyaz-Ul-Haque M., Kennedy S., Aviv R., Tsui L.-C., Teebi A.S.
    Am. J. Med. Genet. A 121:37-40(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CRBM ARG-420.
  13. "A missense mutation in the SH3BP2 gene on chromosome 4p16.3 found in a case of nonfamilial cherubism."
    Imai Y., Kanno K., Moriya T., Kayano S., Seino H., Matsubara Y., Yamada A.
    Cleft Palate Craniofac. J. 40:632-638(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CRBM ARG-418.

Entry informationi

Entry namei3BP2_HUMAN
AccessioniPrimary (citable) accession number: P78314
Secondary accession number(s): A6NNC2
, B2R5R6, B4DT04, D3DVR0, D6R919, O00500, O15373, P78315
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 15, 1998
Last modified: November 26, 2014
This is version 135 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

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