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Protein

SH2B adapter protein 3

Gene

SH2B3

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

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000111252-MONOMER.
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

HGNCiHGNC:29605. SH2B3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024168262W → R Associated with susceptibility to CELIAC13 and IDDM. 2 PublicationsCorresponds to variant rs3184504dbSNPEnsembl.1
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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024168262W → R Associated with susceptibility to CELIAC13 and IDDM. 2 PublicationsCorresponds to variant rs3184504dbSNPEnsembl.1

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

EPDiQ9UQQ2.
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

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

Protein-protein interaction databases

BioGridi115336. 9 interactors.
IntActiQ9UQQ2. 6 interactors.
MINTiMINT-1494618.
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
Contains 1 PH domain.Curated
Contains 1 SH2 domain.PROSITE-ProRule annotation

Keywords - Domaini

SH2 domain

Phylogenomic databases

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

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
3.30.505.10. 1 hit.
InterProiIPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR015012. Phe_ZIP.
IPR000980. SH2.
IPR030523. SH2B.
IPR030522. SH2B3.
[Graphical view]
PANTHERiPTHR10872. PTHR10872. 1 hit.
PTHR10872:SF1. PTHR10872:SF1. 1 hit.
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.
SSF50729. SSF50729. 1 hit.
SSF55550. SSF55550. 1 hit.
PROSITEiPS50001. SH2. 1 hit.
[Graphical view]

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 rs7972796dbSNPEnsembl.1
Natural variantiVAR_024168262W → R Associated with susceptibility to CELIAC13 and IDDM. 2 PublicationsCorresponds to variant rs3184504dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9UQQ2.
SMRiQ9UQQ2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115336. 9 interactors.
IntActiQ9UQQ2. 6 interactors.
MINTiMINT-1494618.
STRINGi9606.ENSP00000345492.

Chemistry databases

DrugBankiDB06589. Pazopanib.

PTM databases

iPTMnetiQ9UQQ2.
PhosphoSitePlusiQ9UQQ2.

Polymorphism and mutation databases

BioMutaiSH2B3.
DMDMi13628527.

Proteomic databases

EPDiQ9UQQ2.
MaxQBiQ9UQQ2.
PaxDbiQ9UQQ2.
PeptideAtlasiQ9UQQ2.
PRIDEiQ9UQQ2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi10019.
DisGeNETi10019.
GeneCardsiSH2B3.
HGNCiHGNC:29605. SH2B3.
HPAiHPA005483.
MalaCardsiSH2B3.
MIMi222100. phenotype.
605093. gene.
612011. phenotype.
neXtProtiNX_Q9UQQ2.
OpenTargetsiENSG00000111252.
Orphaneti3318. Essential thrombocythemia.
391366. Growth retardation-mild developmental delay-chronic hepatitis syndrome.
PharmGKBiPA145148124.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000111252-MONOMER.
ReactomeiR-HSA-1433559. Regulation of KIT signaling.
R-HSA-983231. Factors involved in megakaryocyte development and platelet production.
SignaLinkiQ9UQQ2.
SIGNORiQ9UQQ2.

Miscellaneous databases

ChiTaRSiSH2B3. human.
GeneWikiiSH2B3.
GenomeRNAii10019.
PROiQ9UQQ2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000111252.
CleanExiHS_SH2B3.
ExpressionAtlasiQ9UQQ2. baseline and differential.
GenevisibleiQ9UQQ2. HS.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
3.30.505.10. 1 hit.
InterProiIPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR015012. Phe_ZIP.
IPR000980. SH2.
IPR030523. SH2B.
IPR030522. SH2B3.
[Graphical view]
PANTHERiPTHR10872. PTHR10872. 1 hit.
PTHR10872:SF1. PTHR10872:SF1. 1 hit.
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.
SSF50729. SSF50729. 1 hit.
SSF55550. SSF55550. 1 hit.
PROSITEiPS50001. SH2. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 30, 2016
This is version 131 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

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 one 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.