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Protein

SH2B adapter protein 3

Gene

SH2B3

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

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-1433559 Regulation of KIT signaling
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
SignaLinkiQ9UQQ2
SIGNORiQ9UQQ2

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
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000111252.10
HGNCiHGNC:29605 SH2B3
MIMi605093 gene
neXtProtiNX_Q9UQQ2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Celiac disease 13 (CELIAC13)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:612011
Diabetes mellitus, insulin-dependent (IDDM)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:222100

Keywords - Diseasei

Diabetes mellitus

Organism-specific databases

DisGeNETi10019
MalaCardsiSH2B3
MIMi222100 phenotype
612011 phenotype
OpenTargetsiENSG00000111252
Orphaneti3318 Essential thrombocythemia
391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome
PharmGKBiPA145148124

Chemistry databases

DrugBankiDB06589 Pazopanib

Polymorphism and mutation databases

BioMutaiSH2B3
DMDMi13628527

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000844541 – 575SH2B adapter protein 3Add BLAST575

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei13PhosphoserineBy similarity1
Modified residuei103PhosphoserineCombined sources1
Modified residuei120PhosphoserineCombined sources1
Modified residuei150PhosphoserineCombined sources1
Modified residuei330PhosphoserineBy similarity1

Post-translational modificationi

Tyrosine phosphorylated by LCK.

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9UQQ2
PaxDbiQ9UQQ2
PeptideAtlasiQ9UQQ2
PRIDEiQ9UQQ2

PTM databases

iPTMnetiQ9UQQ2
PhosphoSitePlusiQ9UQQ2

Expressioni

Tissue specificityi

Preferentially expressed by lymphoid cell lines.

Gene expression databases

BgeeiENSG00000111252
CleanExiHS_SH2B3
ExpressionAtlasiQ9UQQ2 baseline and differential
GenevisibleiQ9UQQ2 HS

Organism-specific databases

HPAiHPA005483

Interactioni

Subunit structurei

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

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi1153369 interactors.
IntActiQ9UQQ2 6 interactors.
MINTiQ9UQQ2
STRINGi9606.ENSP00000345492

Structurei

3D structure databases

ProteinModelPortaliQ9UQQ2
SMRiQ9UQQ2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini194 – 307PHAdd BLAST114
Domaini364 – 462SH2PROSITE-ProRule annotationAdd BLAST99

Sequence similaritiesi

Belongs to the SH2B adapter family.Curated

Keywords - Domaini

SH2 domain

Phylogenomic databases

eggNOGiENOG410IFCS Eukaryota
ENOG410YMBM LUCA
GeneTreeiENSGT00530000063355
HOGENOMiHOG000047355
HOVERGENiHBG093951
InParanoidiQ9UQQ2
KOiK12459
OMAiPHWDSEL
OrthoDBiEOG091G04RI
PhylomeDBiQ9UQQ2
TreeFamiTF323184

Family and domain databases

CDDicd10412 SH2_SH2B3, 1 hit
Gene3Di2.30.29.301 hit
3.30.505.101 hit
InterProiView protein in InterPro
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR015012 Phe_ZIP
IPR036290 Phe_ZIP_sf
IPR000980 SH2
IPR036860 SH2_dom_sf
IPR030523 SH2B
IPR030522 SH2B3
IPR035059 SH2B3_SH2
PANTHERiPTHR10872 PTHR10872, 1 hit
PTHR10872:SF1 PTHR10872:SF1, 1 hit
PfamiView protein in Pfam
PF00169 PH, 1 hit
PF08916 Phe_ZIP, 1 hit
PF00017 SH2, 1 hit
PRINTSiPR00401 SH2DOMAIN
SMARTiView protein in SMART
SM00233 PH, 1 hit
SM00252 SH2, 1 hit
SUPFAMiSSF109805 SSF109805, 1 hit
SSF55550 SSF55550, 1 hit
PROSITEiView protein in PROSITE
PS50001 SH2, 1 hit

Sequencei

Sequence statusi: Complete.

Q9UQQ2-1 [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)DescriptionActionsGraphical viewLength
Sequence conflicti309G → GR in CAB42642 (Ref. 2) Curated1
Sequence conflicti491H → P in CAB42642 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_046210182F → L. Corresponds to variant dbSNP:rs7972796Ensembl.1
Natural variantiVAR_024168262W → R Associated with susceptibility to CELIAC13 and IDDM. 2 PublicationsCorresponds to variant dbSNP:rs3184504Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

EnsembliENST00000341259; ENSP00000345492; ENSG00000111252
GeneIDi10019
KEGGihsa:10019
UCSCiuc001tse.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSH2B3_HUMAN
AccessioniPrimary (citable) accession number: Q9UQQ2
Secondary accession number(s): B9EGG5, O95184
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: April 27, 2001
Last modified: March 28, 2018
This is version 140 of the entry and version 2 of the sequence. See 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