Gene Page: BLNK

Summary ?
GeneID29760
SymbolBLNK
SynonymsAGM4|BASH|BLNK-S|LY57|SLP-65|SLP65|bca
DescriptionB-cell linker
ReferenceMIM:604515|HGNC:HGNC:14211|Ensembl:ENSG00000095585|HPRD:05153|Vega:OTTHUMG00000018827
Gene typeprotein-coding
Map location10q23.2-q23.33
Pascal p-value0.007
TADA p-value0.001
Fetal beta-1.855
DMG1 (# studies)
SupportG2Cdb.humanPSD
G2Cdb.humanPSP

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Wockner_2014Genome-wide DNA methylation analysisThis dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 1
DNM:Gulsuner_2013Whole Exome Sequencing analysis155 DNMs identified by exome sequencing of quads or trios of schizophrenia individuals and their parents.
ExpressionMeta-analysis of gene expressionP value: 1.678 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
BLNKchr1098002509GANM_001114094
NM_001258440
NM_001258441
NM_001258442
NM_013314
NR_047680
NR_047681
NR_047682
NR_047683		p.49R>*
p.49R>*
p.49R>*
p.49R>*
p.49R>*
.
.
.
.		nonsense
nonsense
nonsense
nonsense
nonsense
npcRNA
npcRNA
npcRNA
npcRNA		SchizophreniaDNM:Gulsuner_2013

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg184485701098031337BLNK1.414E-4-0.60.031DMG:Wockner_2014


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005070SH3/SH2 adaptor activityIDA9697839 
GO:0005068transmembrane receptor protein tyrosine kinase adaptor protein activityTAS9697839 
GO:0005515protein bindingIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007242intracellular signaling cascadeIDA9341187 
GO:0006959humoral immune responseTAS9697839 
GO:0006954inflammatory responseTAS9697839 
GO:0030183B cell differentiationNAS10583958 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005622intracellularNAS9341187 
GO:0005737cytoplasmIEA-
GO:0016020membraneIEA-

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
BTKAGMX1 | AT | ATK | BPK | IMD1 | MGC126261 | MGC126262 | PSCTK1 | XLABruton agammaglobulinemia tyrosine kinase-HPRD10498607 |10556826 
BTKAGMX1 | AT | ATK | BPK | IMD1 | MGC126261 | MGC126262 | PSCTK1 | XLABruton agammaglobulinemia tyrosine kinaseAffinity Capture-Western
in vitro
in vivo		BioGRID10498607 |12093870 
CBLBDKFZp686J10223 | DKFZp779A0729 | DKFZp779F1443 | FLJ36865 | FLJ41152 | Nbla00127 | RNF56Cas-Br-M (murine) ecotropic retroviral transforming sequence b-HPRD12093870 
CD72CD72b | LYB2CD72 molecule-HPRD,BioGRID10820378 
CD79AIGA | MB-1CD79a molecule, immunoglobulin-associated alpha-HPRD,BioGRID11449366 |11909947 
CRKL-v-crk sarcoma virus CT10 oncogene homolog (avian)-like-HPRD,BioGRID11489945 
GRB2ASH | EGFRBP-GRB2 | Grb3-3 | MST084 | MSTP084growth factor receptor-bound protein 2-HPRD,BioGRID9697839 |9705962 
LAT2HSPC046 | LAB | NTAL | WBSCR15 | WBSCR5 | WSCR5linker for activation of T cells family, member 2-HPRD12514734 
MAP4K1HPK1mitogen-activated protein kinase kinase kinase kinase 1-HPRD,BioGRID11514608 
NCK1MGC12668 | NCK | NCKalphaNCK adaptor protein 1-HPRD,BioGRID9697839 |11487585 
PLCG2-phospholipase C, gamma 2 (phosphatidylinositol-specific)-HPRD11274146 
PTPN6HCP | HCPH | HPTP1C | PTP-1C | SH-PTP1 | SHP-1 | SHP-1L | SHP1protein tyrosine phosphatase, non-receptor type 6-HPRD,BioGRID11356834 
SH3KBP1CIN85 | GIG10 | MIG18SH3-domain kinase binding protein 1-HPRD,BioGRID11071869 
SYKDKFZp313N1010 | FLJ25043 | FLJ37489spleen tyrosine kinase-HPRD10981967 
VAV1VAVvav 1 guanine nucleotide exchange factor-HPRD,BioGRID9697839 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG B CELL RECEPTOR SIGNALING PATHWAY 7556All SZGR 2.0 genes in this pathway
KEGG PRIMARY IMMUNODEFICIENCY 3528All SZGR 2.0 genes in this pathway
BIOCARTA BCR PATHWAY 3728All SZGR 2.0 genes in this pathway
SA B CELL RECEPTOR COMPLEXES 2420All SZGR 2.0 genes in this pathway
SIG BCR SIGNALING PATHWAY 4638All SZGR 2.0 genes in this pathway
ST B CELL ANTIGEN RECEPTOR 4032All SZGR 2.0 genes in this pathway
PID BCR 5PATHWAY 6550All SZGR 2.0 genes in this pathway
PID PI3KCI PATHWAY 4940All SZGR 2.0 genes in this pathway
REACTOME ANTIGEN ACTIVATES B CELL RECEPTOR LEADING TO GENERATION OF SECOND MESSENGERS 2924All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY THE B CELL RECEPTOR BCR 12690All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY ILS 10786All SZGR 2.0 genes in this pathway
REACTOME REGULATION OF SIGNALING BY CBL 1816All SZGR 2.0 genes in this pathway
REACTOME IL 3 5 AND GM CSF SIGNALING 4334All SZGR 2.0 genes in this pathway
REACTOME IMMUNE SYSTEM 933616All SZGR 2.0 genes in this pathway
REACTOME ADAPTIVE IMMUNE SYSTEM 539350All SZGR 2.0 genes in this pathway
REACTOME CYTOKINE SIGNALING IN IMMUNE SYSTEM 270204All SZGR 2.0 genes in this pathway
GARY CD5 TARGETS DN 431263All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA DN 11679All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS BASAL UP 380215All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL UP 450256All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER BASAL VS MESENCHYMAL UP 12145All SZGR 2.0 genes in this pathway
VECCHI GASTRIC CANCER ADVANCED VS EARLY DN 13870All SZGR 2.0 genes in this pathway
TAKEDA TARGETS OF NUP98 HOXA9 FUSION 10D DN 14290All SZGR 2.0 genes in this pathway
RHEIN ALL GLUCOCORTICOID THERAPY DN 362238All SZGR 2.0 genes in this pathway
GOZGIT ESR1 TARGETS UP 14984All SZGR 2.0 genes in this pathway
COLDREN GEFITINIB RESISTANCE DN 230115All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
KLEIN TARGETS OF BCR ABL1 FUSION 4534All SZGR 2.0 genes in this pathway
FARMER BREAST CANCER APOCRINE VS LUMINAL 326213All SZGR 2.0 genes in this pathway
SCHLOSSER SERUM RESPONSE DN 712443All SZGR 2.0 genes in this pathway
BORLAK LIVER CANCER EGF UP 5741All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK 16521023All SZGR 2.0 genes in this pathway
PUJANA ATM PCC NETWORK 1442892All SZGR 2.0 genes in this pathway
SCHAEFFER PROSTATE DEVELOPMENT 48HR DN 428306All SZGR 2.0 genes in this pathway
PASQUALUCCI LYMPHOMA BY GC STAGE UP 283177All SZGR 2.0 genes in this pathway
ONDER CDH1 TARGETS 1 UP 14085All SZGR 2.0 genes in this pathway
KLEIN PRIMARY EFFUSION LYMPHOMA DN 5842All SZGR 2.0 genes in this pathway
FRASOR RESPONSE TO ESTRADIOL DN 8252All SZGR 2.0 genes in this pathway
NUMATA CSF3 SIGNALING VIA STAT3 2217All SZGR 2.0 genes in this pathway
HADDAD B LYMPHOCYTE PROGENITOR 293193All SZGR 2.0 genes in this pathway
BASSO CD40 SIGNALING DN 6844All SZGR 2.0 genes in this pathway
HADDAD T LYMPHOCYTE AND NK PROGENITOR DN 6341All SZGR 2.0 genes in this pathway
VERHAAK AML WITH NPM1 MUTATED DN 246180All SZGR 2.0 genes in this pathway
ZHAN MULTIPLE MYELOMA CD1 VS CD2 DN 5235All SZGR 2.0 genes in this pathway
KUMAR TARGETS OF MLL AF9 FUSION 405264All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 8HR UP 10573All SZGR 2.0 genes in this pathway
MCLACHLAN DENTAL CARIES DN 245144All SZGR 2.0 genes in this pathway
MCLACHLAN DENTAL CARIES UP 253147All SZGR 2.0 genes in this pathway
MONNIER POSTRADIATION TUMOR ESCAPE UP 393244All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 5 482296All SZGR 2.0 genes in this pathway
KONDO PROSTATE CANCER WITH H3K27ME3 19693All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS DN 292189All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS SILENCED BY METHYLATION DN 281179All SZGR 2.0 genes in this pathway
MASSARWEH TAMOXIFEN RESISTANCE UP 578341All SZGR 2.0 genes in this pathway
RAY TUMORIGENESIS BY ERBB2 CDC25A DN 159105All SZGR 2.0 genes in this pathway
QI PLASMACYTOMA DN 10063All SZGR 2.0 genes in this pathway
CHEN METABOLIC SYNDROM NETWORK 1210725All SZGR 2.0 genes in this pathway
VALK AML CLUSTER 1 2819All SZGR 2.0 genes in this pathway
YAGI AML WITH 11Q23 REARRANGED 351238All SZGR 2.0 genes in this pathway
MIKKELSEN MCV6 LCP WITH H3K27ME3 2911All SZGR 2.0 genes in this pathway
WORSCHECH TUMOR EVASION AND TOLEROGENICITY UP 3019All SZGR 2.0 genes in this pathway
CAIRO HEPATOBLASTOMA CLASSES DN 210141All SZGR 2.0 genes in this pathway
ZHAN MULTIPLE MYELOMA PR DN 4434All SZGR 2.0 genes in this pathway
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 6 7548All SZGR 2.0 genes in this pathway
DUTERTRE ESTRADIOL RESPONSE 6HR DN 9156All SZGR 2.0 genes in this pathway
BHAT ESR1 TARGETS VIA AKT1 DN 8251All SZGR 2.0 genes in this pathway
YANG BCL3 TARGETS UP 364236All SZGR 2.0 genes in this pathway
DELACROIX RARG BOUND MEF 367231All SZGR 2.0 genes in this pathway
DELACROIX RAR TARGETS UP 4833All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 1ST EGF PULSE ONLY 1839928All SZGR 2.0 genes in this pathway