Gene Page: HLA-B

Summary ?
GeneID3106
SymbolHLA-B
SynonymsAS|Bw-47|Bw-50|HLAB|SPDA1
Descriptionmajor histocompatibility complex, class I, B
ReferenceMIM:142830|HGNC:HGNC:4932|Ensembl:ENSG00000234745|Ensembl:ENST00000359635|Ensembl:ENST00000435618|Ensembl:ENST00000450871|HPRD:00828|Vega:OTTHUMG00000031153
Gene typeprotein-coding
Map location6p21.3
Sherlock p-value0.381
Fetal beta-0.622
eGeneCaudate basal ganglia
Cerebellar Hemisphere
Cerebellum
Frontal Cortex BA9
Hippocampus
Myers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
CV:PGCnpGenome-wide Association StudyGWAS
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
GSMA_IGenome scan meta-analysisPsr: 0.033 
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophrenics,schizophreniasClick to show details
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.5489 

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs4081552chr631353688HLA-B31060.16cis
rs10495652chr217139288HLA-B31060.04trans
rs6531271chr217139932HLA-B31060.04trans
rs12620194chr217148003HLA-B31060.04trans
rs17503903chr251039461HLA-B31060.1trans
rs890527chr3140774852HLA-B31060.04trans
rs1678893chr531763244HLA-B31060.14trans
rs7741955chr684829621HLA-B31060.15trans
rs12524136chr684935440HLA-B31060.05trans
rs9397692chr6154487314HLA-B31060.2trans
rs10509151chr1063358651HLA-B31060.15trans
rs6488258chr1210252207HLA-B31060.17trans
rs4769240chr1323697920HLA-B31060.19trans
rs16979927chr2055019249HLA-B31060trans
rs2832206chr2130504653HLA-B31060.15trans
rs17347454chrX23347700HLA-B31060.01trans
rs689365chrX97074769HLA-B31060.15trans

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:0003674molecular_functionND-
GO:0005515protein bindingIPI17353931 
GO:0032393MHC class I receptor activityNAS518865 |2715640 |8420828 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0002474antigen processing and presentation of peptide antigen via MHC class IIEA-
GO:0019882antigen processing and presentationIEA-
GO:0008150biological_processND10203017 
GO:0006955immune responseIEA-
GO:0006955immune responseNAS518865 |2715640 |8420828 
GO:0006952defense responseTAS3011411 
GO:0044419interspecies interaction between organismsIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005575cellular_componentND-
GO:0005624membrane fractionTAS3011411 
GO:0016020membraneIEA-
GO:0016021integral to membraneIEA-
GO:0005886plasma membraneEXP15304001 
GO:0005887integral to plasma membraneNAS518865 |2715640 |8420828 
GO:0042612MHC class I protein complexIEA-

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
AHCYSAHHS-adenosylhomocysteine hydrolaseAffinity Capture-MSBioGRID17353931 
B2M-beta-2-microglobulin-HPRD2450918 
CD8ACD8 | Leu2 | MAL | p32CD8a molecule-HPRD,BioGRID9331948 |10809759|10809759 
EZRCVIL | CVL | DKFZp762H157 | FLJ26216 | MGC1584 | VIL2ezrinAffinity Capture-MSBioGRID17353931 
KIR3DL1CD158E1 | KIR | MGC119726 | MGC119728 | MGC126589 | MGC126591 | NKAT3 | NKB1 | NKB1Bkiller cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1in vivoBioGRID8046332 
KIR3DL1CD158E1 | KIR | MGC119726 | MGC119728 | MGC126589 | MGC126591 | NKAT3 | NKB1 | NKB1Bkiller cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1-HPRD12134147 
KIR3DS1CD158E2 | KIR-123FM | KIR-G1 | MGC119726 | MGC119728 | MGC125316 | NKAT10killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1Phenotypic EnhancementBioGRID12134147 
KLRD1CD94killer cell lectin-like receptor subfamily D, member 1-HPRD8046333 
LILRB1CD85 | CD85J | FLJ37515 | ILT2 | LIR-1 | LIR1 | MIR-7 | MIR7leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1-HPRD,BioGRID12853576 
LILRB2CD85D | ILT4 | LILRA6 | LIR-2 | LIR2 | MIR-10 | MIR10leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2-HPRD,BioGRID9531263 |12853576 
LILRB2CD85D | ILT4 | LILRA6 | LIR-2 | LIR2 | MIR-10 | MIR10leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2-HPRD12853576 
MAGEA1MAGE1 | MGC9326melanoma antigen family A, 1 (directs expression of antigen MZ2-E)-HPRD,BioGRID10363990 
MSN-moesinAffinity Capture-MSBioGRID17353931 
PAICSADE2 | ADE2H1 | AIRC | DKFZp781N1372 | MGC1343 | MGC5024 | PAISphosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetaseAffinity Capture-MSBioGRID17353931 
PFASFGAMS | FGARAT | KIAA0361 | PURLphosphoribosylformylglycinamidine synthaseAffinity Capture-MSBioGRID17353931 
PLS3T-plastinplastin 3 (T isoform)Affinity Capture-MSBioGRID17353931 
PSMD1MGC133040 | MGC133041 | P112 | Rpn2 | S1proteasome (prosome, macropain) 26S subunit, non-ATPase, 1Affinity Capture-MSBioGRID17353931 
RUVBL1ECP54 | INO80H | NMP238 | PONTIN | Pontin52 | RVB1 | TIH1 | TIP49 | TIP49ARuvB-like 1 (E. coli)Affinity Capture-MSBioGRID17353931 
TARSMGC9344 | ThrRSthreonyl-tRNA synthetaseAffinity Capture-MSBioGRID17353931 
TRA@FLJ22602 | MGC117436 | MGC22624 | MGC23964 | MGC71411 | TCRA | TCRD | TRAT cell receptor alpha locus-HPRD,BioGRID12530975 
TRIM28FLJ29029 | KAP1 | RNF96 | TF1B | TIF1Btripartite motif-containing 28Affinity Capture-MSBioGRID17353931 
VARSG7A | VARS1 | VARS2valyl-tRNA synthetaseAffinity Capture-MSBioGRID17353931 
VCPIBMPFD | MGC131997 | MGC148092 | MGC8560 | TERA | p97valosin-containing proteinAffinity Capture-MSBioGRID17353931 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG ENDOCYTOSIS 183132All SZGR 2.0 genes in this pathway
KEGG CELL ADHESION MOLECULES CAMS 13493All SZGR 2.0 genes in this pathway
KEGG ANTIGEN PROCESSING AND PRESENTATION 8965All SZGR 2.0 genes in this pathway
KEGG NATURAL KILLER CELL MEDIATED CYTOTOXICITY 13792All SZGR 2.0 genes in this pathway
KEGG TYPE I DIABETES MELLITUS 4438All SZGR 2.0 genes in this pathway
KEGG AUTOIMMUNE THYROID DISEASE 5349All SZGR 2.0 genes in this pathway
KEGG ALLOGRAFT REJECTION 3834All SZGR 2.0 genes in this pathway
KEGG GRAFT VERSUS HOST DISEASE 4231All SZGR 2.0 genes in this pathway
KEGG VIRAL MYOCARDITIS 7358All SZGR 2.0 genes in this pathway
REACTOME ANTIGEN PROCESSING CROSS PRESENTATION 7648All SZGR 2.0 genes in this pathway
REACTOME ENDOSOMAL VACUOLAR PATHWAY 97All SZGR 2.0 genes in this pathway
REACTOME ER PHAGOSOME PATHWAY 6140All SZGR 2.0 genes in this pathway
REACTOME IMMUNOREGULATORY INTERACTIONS BETWEEN A LYMPHOID AND A NON LYMPHOID CELL 7037All SZGR 2.0 genes in this pathway
REACTOME INTERFERON GAMMA SIGNALING 6348All SZGR 2.0 genes in this pathway
REACTOME INTERFERON ALPHA BETA SIGNALING 6450All SZGR 2.0 genes in this pathway
REACTOME INTERFERON SIGNALING 159116All 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
REACTOME ANTIGEN PRESENTATION FOLDING ASSEMBLY AND PEPTIDE LOADING OF CLASS I MHC 2117All SZGR 2.0 genes in this pathway
REACTOME CLASS I MHC MEDIATED ANTIGEN PROCESSING PRESENTATION 251156All SZGR 2.0 genes in this pathway
NAKAMURA TUMOR ZONE PERIPHERAL VS CENTRAL DN 634384All SZGR 2.0 genes in this pathway
HOLLMANN APOPTOSIS VIA CD40 DN 267178All SZGR 2.0 genes in this pathway
ONKEN UVEAL MELANOMA UP 783507All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA DN 11679All SZGR 2.0 genes in this pathway
LEE NEURAL CREST STEM CELL DN 11879All SZGR 2.0 genes in this pathway
NUYTTEN EZH2 TARGETS UP 1037673All SZGR 2.0 genes in this pathway
LOPEZ MBD TARGETS 957597All SZGR 2.0 genes in this pathway
SCHAEFFER PROSTATE DEVELOPMENT 48HR UP 487286All SZGR 2.0 genes in this pathway
BENPORATH EED TARGETS 1062725All SZGR 2.0 genes in this pathway
BENPORATH ES WITH H3K27ME3 1118744All SZGR 2.0 genes in this pathway
ROZANOV MMP14 TARGETS UP 266171All SZGR 2.0 genes in this pathway
WIELAND UP BY HBV INFECTION 10166All SZGR 2.0 genes in this pathway
SANA RESPONSE TO IFNG UP 7850All SZGR 2.0 genes in this pathway
SANA TNF SIGNALING UP 8356All SZGR 2.0 genes in this pathway
MANALO HYPOXIA UP 207145All SZGR 2.0 genes in this pathway
SANSOM APC TARGETS DN 366238All SZGR 2.0 genes in this pathway
GALE APL WITH FLT3 MUTATED DN 1710All SZGR 2.0 genes in this pathway
NATSUME RESPONSE TO INTERFERON BETA UP 7149All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE DN 1237837All SZGR 2.0 genes in this pathway
WANG SMARCE1 TARGETS DN 371218All SZGR 2.0 genes in this pathway
HU GENOTOXIN ACTION DIRECT VS INDIRECT 24HR 5538All SZGR 2.0 genes in this pathway
RODWELL AGING KIDNEY UP 487303All SZGR 2.0 genes in this pathway
SATO SILENCED BY METHYLATION IN PANCREATIC CANCER 1 419273All SZGR 2.0 genes in this pathway
MARCHINI TRABECTEDIN RESISTANCE DN 4934All SZGR 2.0 genes in this pathway
KIM LRRC3B TARGETS 3024All SZGR 2.0 genes in this pathway
PELLICCIOTTA HDAC IN ANTIGEN PRESENTATION DN 4938All SZGR 2.0 genes in this pathway
WALLACE PROSTATE CANCER RACE UP 299167All SZGR 2.0 genes in this pathway
CAMPS COLON CANCER COPY NUMBER DN 7434All SZGR 2.0 genes in this pathway
ACEVEDO NORMAL TISSUE ADJACENT TO LIVER TUMOR UP 17496All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER UP 973570All SZGR 2.0 genes in this pathway
ACEVEDO LIVER TUMOR VS NORMAL ADJACENT TISSUE UP 863514All SZGR 2.0 genes in this pathway
IZADPANAH STEM CELL ADIPOSE VS BONE UP 12692All SZGR 2.0 genes in this pathway
GAURNIER PSMD4 TARGETS 7355All SZGR 2.0 genes in this pathway
BOQUEST STEM CELL DN 216143All SZGR 2.0 genes in this pathway
HUPER BREAST BASAL VS LUMINAL DN 5944All SZGR 2.0 genes in this pathway
WUNDER INFLAMMATORY RESPONSE AND CHOLESTEROL UP 5838All SZGR 2.0 genes in this pathway
HOFFMANN SMALL PRE BII TO IMMATURE B LYMPHOCYTE DN 5033All SZGR 2.0 genes in this pathway
LEE EARLY T LYMPHOCYTE DN 5736All SZGR 2.0 genes in this pathway
KUROKAWA LIVER CANCER EARLY RECURRENCE DN 76All SZGR 2.0 genes in this pathway
STAMBOLSKY TARGETS OF MUTATED TP53 DN 5024All SZGR 2.0 genes in this pathway
CHICAS RB1 TARGETS SENESCENT 572352All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 2 UP 14094All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 3 UP 430288All SZGR 2.0 genes in this pathway
PEDERSEN METASTASIS BY ERBB2 ISOFORM 7 403240All SZGR 2.0 genes in this pathway
PHONG TNF RESPONSE NOT VIA P38 337236All SZGR 2.0 genes in this pathway