Summary ?
GeneID3145
SymbolHMBS
SynonymsPBG-D|PBGD|PORC|UPS
Descriptionhydroxymethylbilane synthase
ReferenceMIM:609806|HGNC:HGNC:4982|Ensembl:ENSG00000256269|HPRD:01440|Vega:OTTHUMG00000168295
Gene typeprotein-coding
Map location11q23.3
Pascal p-value0.034
eGeneAnterior cingulate cortex BA24
Caudate basal ganglia
Cerebellum
Cortex
Hypothalamus
Nucleus accumbens basal ganglia
Putamen basal ganglia
Myers' cis & trans
Meta

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
AssociationA combined odds ratio method (Sun et al. 2008), association studies1Link to SZGene
GSMA_IGenome scan meta-analysisPsr: 0.006 

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs17714461chr1951425105HMBS31450.19trans
rs20151337611118935420HMBSENSG00000256269.21.922E-70-20156gtex_brain_ba24
rs55097411118937106HMBSENSG00000256269.27.019E-80-18470gtex_brain_ba24
rs62247811118937150HMBSENSG00000256269.27.736E-80-18426gtex_brain_ba24
rs445473011118937444HMBSENSG00000256269.29.965E-80-18132gtex_brain_ba24
rs454556411118937518HMBSENSG00000256269.27.889E-80-18058gtex_brain_ba24
rs579516211118937623HMBSENSG00000256269.27.889E-80-17953gtex_brain_ba24
rs3526194511118937624HMBSENSG00000256269.29.267E-80-17952gtex_brain_ba24
rs178446111118937985HMBSENSG00000256269.27.889E-80-17591gtex_brain_ba24
rs178614111118938315HMBSENSG00000256269.27.889E-80-17261gtex_brain_ba24
rs178446011118938371HMBSENSG00000256269.27.889E-80-17205gtex_brain_ba24
rs178445911118938388HMBSENSG00000256269.27.889E-80-17188gtex_brain_ba24
rs178668411118938435HMBSENSG00000256269.27.889E-80-17141gtex_brain_ba24
rs178668511118938957HMBSENSG00000256269.27.889E-80-16619gtex_brain_ba24
rs1089232711118939488HMBSENSG00000256269.27.844E-80-16088gtex_brain_ba24
rs178430211118940957HMBSENSG00000256269.25.909E-80-14619gtex_brain_ba24
rs178430511118942048HMBSENSG00000256269.27.889E-80-13528gtex_brain_ba24
rs178669011118942067HMBSENSG00000256269.27.889E-80-13509gtex_brain_ba24
rs161426411118942638HMBSENSG00000256269.27.889E-80-12938gtex_brain_ba24
rs118546011118943433HMBSENSG00000256269.27.889E-80-12143gtex_brain_ba24
rs116932611118945185HMBSENSG00000256269.27.849E-80-10391gtex_brain_ba24
rs118490211118945337HMBSENSG00000256269.27.889E-80-10239gtex_brain_ba24
rs15051442511118946251HMBSENSG00000256269.23.292E-70-9325gtex_brain_ba24
rs116857011118947154HMBSENSG00000256269.29.826E-80-8422gtex_brain_ba24
rs116856911118947168HMBSENSG00000256269.22.07E-70-8408gtex_brain_ba24
rs117756311118949083HMBSENSG00000256269.26.804E-80-6493gtex_brain_ba24
rs117756211118949331HMBSENSG00000256269.22.208E-60-6245gtex_brain_ba24
rs116856811118949799HMBSENSG00000256269.27.87E-80-5777gtex_brain_ba24
rs130714511118950217HMBSENSG00000256269.27.893E-80-5359gtex_brain_ba24
rs55097411118937106HMBSENSG00000256269.28.316E-70-18470gtex_brain_putamen_basal
rs62247811118937150HMBSENSG00000256269.29.819E-70-18426gtex_brain_putamen_basal
rs445473011118937444HMBSENSG00000256269.28.955E-70-18132gtex_brain_putamen_basal
rs454556411118937518HMBSENSG00000256269.29.114E-70-18058gtex_brain_putamen_basal
rs579516211118937623HMBSENSG00000256269.22.569E-70-17953gtex_brain_putamen_basal
rs3526194511118937624HMBSENSG00000256269.22.569E-70-17952gtex_brain_putamen_basal
rs178446111118937985HMBSENSG00000256269.29.114E-70-17591gtex_brain_putamen_basal
rs178614111118938315HMBSENSG00000256269.29.114E-70-17261gtex_brain_putamen_basal
rs178446011118938371HMBSENSG00000256269.29.114E-70-17205gtex_brain_putamen_basal
rs178445911118938388HMBSENSG00000256269.29.114E-70-17188gtex_brain_putamen_basal
rs178668411118938435HMBSENSG00000256269.29.114E-70-17141gtex_brain_putamen_basal
rs178668511118938957HMBSENSG00000256269.29.114E-70-16619gtex_brain_putamen_basal
rs1089232711118939488HMBSENSG00000256269.28.402E-70-16088gtex_brain_putamen_basal
rs178430211118940957HMBSENSG00000256269.26.633E-70-14619gtex_brain_putamen_basal
rs178430511118942048HMBSENSG00000256269.21.071E-60-13528gtex_brain_putamen_basal
rs178669011118942067HMBSENSG00000256269.21.071E-60-13509gtex_brain_putamen_basal
rs161426411118942638HMBSENSG00000256269.21.071E-60-12938gtex_brain_putamen_basal
rs118546011118943433HMBSENSG00000256269.21.072E-60-12143gtex_brain_putamen_basal
rs116932611118945185HMBSENSG00000256269.23.933E-60-10391gtex_brain_putamen_basal
rs118490211118945337HMBSENSG00000256269.23.895E-60-10239gtex_brain_putamen_basal
rs116857011118947154HMBSENSG00000256269.28.59E-70-8422gtex_brain_putamen_basal
rs116856911118947168HMBSENSG00000256269.24.103E-70-8408gtex_brain_putamen_basal
rs117756311118949083HMBSENSG00000256269.22.266E-60-6493gtex_brain_putamen_basal
rs116856811118949799HMBSENSG00000256269.21.064E-60-5777gtex_brain_putamen_basal
rs130714511118950217HMBSENSG00000256269.21.093E-60-5359gtex_brain_putamen_basal
rs712721211118953202HMBSENSG00000256269.21.993E-60-2374gtex_brain_putamen_basal
rs3544122711118953739HMBSENSG00000256269.21.961E-60-1837gtex_brain_putamen_basal
rs795270011118954194HMBSENSG00000256269.21.76E-60-1382gtex_brain_putamen_basal
rs284628211118957357HMBSENSG00000256269.21.702E-601781gtex_brain_putamen_basal
rs3485058311118957948HMBSENSG00000256269.21.638E-602372gtex_brain_putamen_basal
rs1129727211118957949HMBSENSG00000256269.21.676E-602373gtex_brain_putamen_basal
rs179999311118958127HMBSENSG00000256269.21.71E-602551gtex_brain_putamen_basal

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

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:0004418hydroxymethylbilane synthase activityTAS2025226 
GO:0016740transferase activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006783heme biosynthetic processIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005737cytoplasmIEA-
GO:0005739mitochondrionIDA18029348 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG PORPHYRIN AND CHLOROPHYLL METABOLISM 4123All SZGR 2.0 genes in this pathway
BIOCARTA AHSP PATHWAY 136All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF PORPHYRINS 147All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382904All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY SERUM DEPRIVATION UP 552347All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND DOXORUBICIN DN 770415All SZGR 2.0 genes in this pathway
LASTOWSKA NEUROBLASTOMA COPY NUMBER DN 800473All SZGR 2.0 genes in this pathway
AMUNDSON RESPONSE TO ARSENITE 217143All SZGR 2.0 genes in this pathway
MOHANKUMAR TLX1 TARGETS UP 414287All SZGR 2.0 genes in this pathway
SPIELMAN LYMPHOBLAST EUROPEAN VS ASIAN UP 479299All SZGR 2.0 genes in this pathway
NUYTTEN EZH2 TARGETS DN 1024594All SZGR 2.0 genes in this pathway
BUYTAERT PHOTODYNAMIC THERAPY STRESS DN 637377All SZGR 2.0 genes in this pathway
LIU NASOPHARYNGEAL CARCINOMA 7038All SZGR 2.0 genes in this pathway
GOTZMANN EPITHELIAL TO MESENCHYMAL TRANSITION DN 206136All SZGR 2.0 genes in this pathway
BENPORATH MYC TARGETS WITH EBOX 230156All SZGR 2.0 genes in this pathway
MORI SMALL PRE BII LYMPHOCYTE DN 7652All SZGR 2.0 genes in this pathway
WELCH GATA1 TARGETS 2212All SZGR 2.0 genes in this pathway
MANALO HYPOXIA DN 289166All SZGR 2.0 genes in this pathway
FERNANDEZ BOUND BY MYC 182116All SZGR 2.0 genes in this pathway
LEE AGING NEOCORTEX DN 8049All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS LATE PROGENITOR 544307All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 14HR DN 298200All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 20HR DN 10170All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP 16911088All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 48HR DN 504323All SZGR 2.0 genes in this pathway
MARSON BOUND BY E2F4 UNSTIMULATED 728415All SZGR 2.0 genes in this pathway
GOLDRATH ANTIGEN RESPONSE 346192All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305895All SZGR 2.0 genes in this pathway
HOFFMANN SMALL PRE BII TO IMMATURE B LYMPHOCYTE UP 7049All SZGR 2.0 genes in this pathway
SHAFFER IRF4 TARGETS IN MYELOMA VS MATURE B LYMPHOCYTE 10176All SZGR 2.0 genes in this pathway
SHAFFER IRF4 TARGETS IN ACTIVATED B LYMPHOCYTE 8166All SZGR 2.0 genes in this pathway
COULOUARN TEMPORAL TGFB1 SIGNATURE UP 10968All SZGR 2.0 genes in this pathway
FOURNIER ACINAR DEVELOPMENT LATE 2 277172All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103714All SZGR 2.0 genes in this pathway
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 17 181101All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 30MIN DN 15099All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 4HR DN 254158All SZGR 2.0 genes in this pathway
MARTENS TRETINOIN RESPONSE DN 841431All SZGR 2.0 genes in this pathway
ACOSTA PROLIFERATION INDEPENDENT MYC TARGETS DN 11674All SZGR 2.0 genes in this pathway
DELACROIX RAR BOUND ES 462273All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-143192198m8hsa-miR-143brainUGAGAUGAAGCACUGUAGCUCA
miR-409-5p2302361Ahsa-miR-409-5pAGGUUACCCGAGCAACUUUGCA