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Q9UQQ2

- SH2B3_HUMAN

UniProt

Q9UQQ2 - SH2B3_HUMAN

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Protein

SH2B adapter protein 3

Gene

SH2B3

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

Functioni

Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase.By similarity

GO - Molecular functioni

  1. phosphate ion binding Source: Ensembl
  2. signal transducer activity Source: InterPro

GO - Biological processi

  1. blood coagulation Source: Reactome
  2. cell differentiation Source: Ensembl
  3. embryonic hemopoiesis Source: Ensembl
  4. intracellular signal transduction Source: Ensembl
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_111225. Regulation of KIT signaling.
REACT_24970. Factors involved in megakaryocyte development and platelet production.
SignaLinkiQ9UQQ2.

Names & Taxonomyi

Protein namesi
Recommended name:
SH2B adapter protein 3
Alternative name(s):
Lymphocyte adapter protein
Lymphocyte-specific adapter protein Lnk
Signal transduction protein Lnk
Gene namesi
Name:SH2B3
Synonyms:LNK
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:29605. SH2B3.

Subcellular locationi

GO - Cellular componenti

  1. cytosol Source: Reactome
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Celiac disease 13 (CELIAC13) [MIM:612011]: A multifactorial, chronic disorder of the small intestine caused by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal absorption, and malnutrition. In predisposed individuals, the ingestion of gluten-containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes.1 Publication
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti262 – 2621W → R Associated with susceptibility to CELIAC13 and IDDM. 2 Publications
Corresponds to variant rs3184504 [ dbSNP | Ensembl ].
VAR_024168
Diabetes mellitus, insulin-dependent (IDDM) [MIM:222100]: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.1 Publication
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti262 – 2621W → R Associated with susceptibility to CELIAC13 and IDDM. 2 Publications
Corresponds to variant rs3184504 [ dbSNP | Ensembl ].
VAR_024168

Keywords - Diseasei

Diabetes mellitus

Organism-specific databases

MIMi222100. phenotype.
612011. phenotype.
Orphaneti3318. Essential thrombocythemia.
391366. Growth retardation-mild developmental delay-chronic hepatitis syndrome.
PharmGKBiPA145148124.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 575575SH2B adapter protein 3PRO_0000084454Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei150 – 1501Phosphoserine1 Publication

Post-translational modificationi

Tyrosine phosphorylated by LCK.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9UQQ2.
PaxDbiQ9UQQ2.
PRIDEiQ9UQQ2.

PTM databases

PhosphoSiteiQ9UQQ2.

Expressioni

Tissue specificityi

Preferentially expressed by lymphoid cell lines.

Gene expression databases

BgeeiQ9UQQ2.
CleanExiHS_SH2B3.
ExpressionAtlasiQ9UQQ2. baseline and differential.
GenevestigatoriQ9UQQ2.

Organism-specific databases

HPAiHPA005483.

Interactioni

Subunit structurei

Binds to the tyrosine-phosphorylated TCR zeta chain via its SH2 domain.

Binary interactionsi

WithEntry#Exp.IntActNotes
EGFRP005332EBI-7879749,EBI-297353
ERBB3P218602EBI-7879749,EBI-720706
KITP107212EBI-7879749,EBI-1379503
METP085812EBI-7879749,EBI-1039152

Protein-protein interaction databases

BioGridi115336. 8 interactions.
IntActiQ9UQQ2. 5 interactions.
MINTiMINT-1494618.
STRINGi9606.ENSP00000345492.

Structurei

3D structure databases

ProteinModelPortaliQ9UQQ2.
SMRiQ9UQQ2. Positions 24-84, 197-312, 359-441.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini194 – 307114PHAdd
BLAST
Domaini364 – 46299SH2PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the SH2B adapter family.Curated
Contains 1 PH domain.Curated
Contains 1 SH2 domain.PROSITE-ProRule annotation

Keywords - Domaini

SH2 domain

Phylogenomic databases

eggNOGiNOG77816.
GeneTreeiENSGT00530000063355.
HOGENOMiHOG000047355.
HOVERGENiHBG093951.
InParanoidiQ9UQQ2.
KOiK12459.
OMAiAREHPQH.
OrthoDBiEOG70CR6F.
PhylomeDBiQ9UQQ2.
TreeFamiTF323184.

Family and domain databases

Gene3Di3.30.505.10. 1 hit.
InterProiIPR001849. PH_domain.
IPR015012. Phe_ZIP.
IPR000980. SH2.
[Graphical view]
PfamiPF00169. PH. 1 hit.
PF08916. Phe_ZIP. 1 hit.
PF00017. SH2. 1 hit.
[Graphical view]
PRINTSiPR00401. SH2DOMAIN.
SMARTiSM00233. PH. 1 hit.
SM00252. SH2. 1 hit.
[Graphical view]
SUPFAMiSSF109805. SSF109805. 1 hit.
SSF55550. SSF55550. 1 hit.
PROSITEiPS50001. SH2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9UQQ2 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MNGPALQPSS PSSAPSASPA AAPRGWSEFC ELHAVAAARE LARQYWLFAR
60 70 80 90 100
EHPQHAPLRA ELVSLQFTDL FQRYFCREVR DGRAPGRDYR DTGRGPPAKA
110 120 130 140 150
EASPEPGPGP AAPGLPKARS SEELAPPRPP GPCSFQHFRR SLRHIFRRRS
160 170 180 190 200
AGELPAAHTA AAPGTPGEAA ETPARPGLAK KFLPWSLARE PPPEALKEAV
210 220 230 240 250
LRYSLADEAS MDSGARWQRG RLALRRAPGP DGPDRVLELF DPPKSSRPKL
260 270 280 290 300
QAACSSIQEV RWCTRLEMPD NLYTFVLKVK DRTDIIFEVG DEQQLNSWMA
310 320 330 340 350
ELSECTGRGL ESTEAEMHIP SALEPSTSSS PRGSTDSLNQ GASPGGLLDP
360 370 380 390 400
ACQKTDHFLS CYPWFHGPIS RVKAAQLVQL QGPDAHGVFL VRQSETRRGE
410 420 430 440 450
YVLTFNFQGI AKHLRLSLTE RGQCRVQHLH FPSVVDMLHH FQRSPIPLEC
460 470 480 490 500
GAACDVRLSS YVVVVSQPPG SCNTVLFPFS LPHWDSESLP HWGSELGLPH
510 520 530 540 550
LSSSGCPRGL SPEGLPGRSS PPEQIFHLVP SPEELANSLQ HLEHEPVNRA
560 570
RDSDYEMDSS SRSHLRAIDN QYTPL
Length:575
Mass (Da):63,225
Last modified:April 27, 2001 - v2
Checksum:iEE30B9E21E0009E5
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti309 – 3091G → GR in CAB42642. 1 PublicationCurated
Sequence conflicti491 – 4911H → P in CAB42642. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti182 – 1821F → L.
Corresponds to variant rs7972796 [ dbSNP | Ensembl ].
VAR_046210
Natural varianti262 – 2621W → R Associated with susceptibility to CELIAC13 and IDDM. 2 Publications
Corresponds to variant rs3184504 [ dbSNP | Ensembl ].
VAR_024168

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF055581 mRNA. Translation: AAC71695.1.
AJ012793 mRNA. Translation: CAB42642.1.
CH471054 Genomic DNA. Translation: EAW97955.1.
BC136451 mRNA. Translation: AAI36452.1.
CCDSiCCDS9153.1.
RefSeqiNP_001278353.1. NM_001291424.1.
NP_005466.1. NM_005475.2.
UniGeneiHs.506784.

Genome annotation databases

GeneIDi10019.
KEGGihsa:10019.
UCSCiuc001tse.3. human.

Polymorphism databases

DMDMi13628527.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF055581 mRNA. Translation: AAC71695.1 .
AJ012793 mRNA. Translation: CAB42642.1 .
CH471054 Genomic DNA. Translation: EAW97955.1 .
BC136451 mRNA. Translation: AAI36452.1 .
CCDSi CCDS9153.1.
RefSeqi NP_001278353.1. NM_001291424.1.
NP_005466.1. NM_005475.2.
UniGenei Hs.506784.

3D structure databases

ProteinModelPortali Q9UQQ2.
SMRi Q9UQQ2. Positions 24-84, 197-312, 359-441.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115336. 8 interactions.
IntActi Q9UQQ2. 5 interactions.
MINTi MINT-1494618.
STRINGi 9606.ENSP00000345492.

Chemistry

DrugBanki DB06589. Pazopanib.

PTM databases

PhosphoSitei Q9UQQ2.

Polymorphism databases

DMDMi 13628527.

Proteomic databases

MaxQBi Q9UQQ2.
PaxDbi Q9UQQ2.
PRIDEi Q9UQQ2.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

GeneIDi 10019.
KEGGi hsa:10019.
UCSCi uc001tse.3. human.

Organism-specific databases

CTDi 10019.
GeneCardsi GC12P111843.
HGNCi HGNC:29605. SH2B3.
HPAi HPA005483.
MIMi 222100. phenotype.
605093. gene.
612011. phenotype.
neXtProti NX_Q9UQQ2.
Orphaneti 3318. Essential thrombocythemia.
391366. Growth retardation-mild developmental delay-chronic hepatitis syndrome.
PharmGKBi PA145148124.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG77816.
GeneTreei ENSGT00530000063355.
HOGENOMi HOG000047355.
HOVERGENi HBG093951.
InParanoidi Q9UQQ2.
KOi K12459.
OMAi AREHPQH.
OrthoDBi EOG70CR6F.
PhylomeDBi Q9UQQ2.
TreeFami TF323184.

Enzyme and pathway databases

Reactomei REACT_111225. Regulation of KIT signaling.
REACT_24970. Factors involved in megakaryocyte development and platelet production.
SignaLinki Q9UQQ2.

Miscellaneous databases

ChiTaRSi SH2B3. human.
GeneWikii SH2B3.
GenomeRNAii 10019.
NextBioi 37857.
PROi Q9UQQ2.
SOURCEi Search...

Gene expression databases

Bgeei Q9UQQ2.
CleanExi HS_SH2B3.
ExpressionAtlasi Q9UQQ2. baseline and differential.
Genevestigatori Q9UQQ2.

Family and domain databases

Gene3Di 3.30.505.10. 1 hit.
InterProi IPR001849. PH_domain.
IPR015012. Phe_ZIP.
IPR000980. SH2.
[Graphical view ]
Pfami PF00169. PH. 1 hit.
PF08916. Phe_ZIP. 1 hit.
PF00017. SH2. 1 hit.
[Graphical view ]
PRINTSi PR00401. SH2DOMAIN.
SMARTi SM00233. PH. 1 hit.
SM00252. SH2. 1 hit.
[Graphical view ]
SUPFAMi SSF109805. SSF109805. 1 hit.
SSF55550. SSF55550. 1 hit.
PROSITEi PS50001. SH2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and characterization of human Lnk, an adaptor protein with pleckstrin homology and Src homology 2 domains that can inhibit T cell activation."
    Li Y., He X., Schembri-King J., Jakes S., Hayashi J.
    J. Immunol. 164:5199-5206(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Characterisation of human Lnk a lymphocyte adaptor protein with a multiple domain structure."
    Bartholomew M.A., Morse M.A., Vivier R.G., Blanchard A.D., Boyhan A., Tite J.P., Fuller K.J., Lewis A.P., Sims M.J.
    Submitted (NOV-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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].
    Tissue: Brain.
  5. Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO IDDM, VARIANT ARG-262.
  6. Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO CELIAC13, VARIANT ARG-262.
  7. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-150, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiSH2B3_HUMAN
AccessioniPrimary (citable) accession number: Q9UQQ2
Secondary accession number(s): B9EGG5, O95184
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: April 27, 2001
Last modified: October 29, 2014
This is version 110 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 12
    Human chromosome 12: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3