Gene Page:HMBS

Summary?
GeneID 3145
Symbol HMBS
Synonyms PBG-D|PBGD|PORC|UPS
Description hydroxymethylbilane synthase
参考 MIM:609806|HGNC:HGNC:4982|Ensembl:ENSG00000256269|HPRD:01440|Vega:OTTHUMG00000168295
Gene type protein-coding
Map location 11q23.3
Pascal p-value 0.034
eGene Anterior cingulate cortex BA24
Caudate basal ganglia
Cerebellum
Cortex
Hypothalamus
Nucleus accumbens basal ganglia
Putamen basal ganglia
Myers' cis & trans
Meta

Gene in Data Sources
基因集名称 Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
Association A combined odds ratio method (Sun et al. 2008), association studies 1 Link to SZGene
GSMA_I Genome scan meta-analysis Psr: 0.006

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs17714461 chr19 51425105 HMBS 3145 0.19 trans
rs201513376 11 118935420 HMBS ENSG00000256269.2 1.922E-7 0 -20156 gtex_brain_ba24
rs550974 11 118937106 HMBS ENSG00000256269.2 7.019E-8 0 -18470 gtex_brain_ba24
rs622478 11 118937150 HMBS ENSG00000256269.2 7.736E-8 0 -18426 gtex_brain_ba24
rs4454730 11 118937444 HMBS ENSG00000256269.2 9.965E-8 0 -18132 gtex_brain_ba24
rs4545564 11 118937518 HMBS ENSG00000256269.2 7.889E-8 0 -18058 gtex_brain_ba24
rs5795162 11 118937623 HMBS ENSG00000256269.2 7.889E-8 0 -17953 gtex_brain_ba24
rs35261945 11 118937624 HMBS ENSG00000256269.2 9.267E-8 0 -17952 gtex_brain_ba24
rs1784461 11 118937985 HMBS ENSG00000256269.2 7.889E-8 0 -17591 gtex_brain_ba24
rs1786141 11 118938315 HMBS ENSG00000256269.2 7.889E-8 0 -17261 gtex_brain_ba24
rs1784460 11 118938371 HMBS ENSG00000256269.2 7.889E-8 0 -17205 gtex_brain_ba24
rs1784459 11 118938388 HMBS ENSG00000256269.2 7.889E-8 0 -17188 gtex_brain_ba24
rs1786684 11 118938435 HMBS ENSG00000256269.2 7.889E-8 0 -17141 gtex_brain_ba24
rs1786685 11 118938957 HMBS ENSG00000256269.2 7.889E-8 0 -16619 gtex_brain_ba24
rs10892327 11 118939488 HMBS ENSG00000256269.2 7.844E-8 0 -16088 gtex_brain_ba24
rs1784302 11 118940957 HMBS ENSG00000256269.2 5.909E-8 0 -14619 gtex_brain_ba24
rs1784305 11 118942048 HMBS ENSG00000256269.2 7.889E-8 0 -13528 gtex_brain_ba24
rs1786690 11 118942067 HMBS ENSG00000256269.2 7.889E-8 0 -13509 gtex_brain_ba24
rs1614264 11 118942638 HMBS ENSG00000256269.2 7.889E-8 0 -12938 gtex_brain_ba24
rs1185460 11 118943433 HMBS ENSG00000256269.2 7.889E-8 0 -12143 gtex_brain_ba24
rs1169326 11 118945185 HMBS ENSG00000256269.2 7.849E-8 0 -10391 gtex_brain_ba24
rs1184902 11 118945337 HMBS ENSG00000256269.2 7.889E-8 0 -10239 gtex_brain_ba24
rs150514425 11 118946251 HMBS ENSG00000256269.2 3.292E-7 0 -9325 gtex_brain_ba24
rs1168570 11 118947154 HMBS ENSG00000256269.2 9.826E-8 0 -8422 gtex_brain_ba24
rs1168569 11 118947168 HMBS ENSG00000256269.2 2.07E-7 0 -8408 gtex_brain_ba24
rs1177563 11 118949083 HMBS ENSG00000256269.2 6.804E-8 0 -6493 gtex_brain_ba24
rs1177562 11 118949331 HMBS ENSG00000256269.2 2.208E-6 0 -6245 gtex_brain_ba24
rs1168568 11 118949799 HMBS ENSG00000256269.2 7.87E-8 0 -5777 gtex_brain_ba24
rs1307145 11 118950217 HMBS ENSG00000256269.2 7.893E-8 0 -5359 gtex_brain_ba24
rs550974 11 118937106 HMBS ENSG00000256269.2 8.316E-7 0 -18470 gtex_brain_putamen_basal
rs622478 11 118937150 HMBS ENSG00000256269.2 9.819E-7 0 -18426 gtex_brain_putamen_basal
rs4454730 11 118937444 HMBS ENSG00000256269.2 8.955E-7 0 -18132 gtex_brain_putamen_basal
rs4545564 11 118937518 HMBS ENSG00000256269.2 9.114E-7 0 -18058 gtex_brain_putamen_basal
rs5795162 11 118937623 HMBS ENSG00000256269.2 2.569E-7 0 -17953 gtex_brain_putamen_basal
rs35261945 11 118937624 HMBS ENSG00000256269.2 2.569E-7 0 -17952 gtex_brain_putamen_basal
rs1784461 11 118937985 HMBS ENSG00000256269.2 9.114E-7 0 -17591 gtex_brain_putamen_basal
rs1786141 11 118938315 HMBS ENSG00000256269.2 9.114E-7 0 -17261 gtex_brain_putamen_basal
rs1784460 11 118938371 HMBS ENSG00000256269.2 9.114E-7 0 -17205 gtex_brain_putamen_basal
rs1784459 11 118938388 HMBS ENSG00000256269.2 9.114E-7 0 -17188 gtex_brain_putamen_basal
rs1786684 11 118938435 HMBS ENSG00000256269.2 9.114E-7 0 -17141 gtex_brain_putamen_basal
rs1786685 11 118938957 HMBS ENSG00000256269.2 9.114E-7 0 -16619 gtex_brain_putamen_basal
rs10892327 11 118939488 HMBS ENSG00000256269.2 8.402E-7 0 -16088 gtex_brain_putamen_basal
rs1784302 11 118940957 HMBS ENSG00000256269.2 6.633E-7 0 -14619 gtex_brain_putamen_basal
rs1784305 11 118942048 HMBS ENSG00000256269.2 1.071E-6 0 -13528 gtex_brain_putamen_basal
rs1786690 11 118942067 HMBS ENSG00000256269.2 1.071E-6 0 -13509 gtex_brain_putamen_basal
rs1614264 11 118942638 HMBS ENSG00000256269.2 1.071E-6 0 -12938 gtex_brain_putamen_basal
rs1185460 11 118943433 HMBS ENSG00000256269.2 1.072E-6 0 -12143 gtex_brain_putamen_basal
rs1169326 11 118945185 HMBS ENSG00000256269.2 3.933E-6 0 -10391 gtex_brain_putamen_basal
rs1184902 11 118945337 HMBS ENSG00000256269.2 3.895E-6 0 -10239 gtex_brain_putamen_basal
rs1168570 11 118947154 HMBS ENSG00000256269.2 8.59E-7 0 -8422 gtex_brain_putamen_basal
rs1168569 11 118947168 HMBS ENSG00000256269.2 4.103E-7 0 -8408 gtex_brain_putamen_basal
rs1177563 11 118949083 HMBS ENSG00000256269.2 2.266E-6 0 -6493 gtex_brain_putamen_basal
rs1168568 11 118949799 HMBS ENSG00000256269.2 1.064E-6 0 -5777 gtex_brain_putamen_basal
rs1307145 11 118950217 HMBS ENSG00000256269.2 1.093E-6 0 -5359 gtex_brain_putamen_basal
rs7127212 11 118953202 HMBS ENSG00000256269.2 1.993E-6 0 -2374 gtex_brain_putamen_basal
rs35441227 11 118953739 HMBS ENSG00000256269.2 1.961E-6 0 -1837 gtex_brain_putamen_basal
rs7952700 11 118954194 HMBS ENSG00000256269.2 1.76E-6 0 -1382 gtex_brain_putamen_basal
rs2846282 11 118957357 HMBS ENSG00000256269.2 1.702E-6 0 1781 gtex_brain_putamen_basal
rs34850583 11 118957948 HMBS ENSG00000256269.2 1.638E-6 0 2372 gtex_brain_putamen_basal
rs11297272 11 118957949 HMBS ENSG00000256269.2 1.676E-6 0 2373 gtex_brain_putamen_basal
rs1799993 11 118958127 HMBS ENSG00000256269.2 1.71E-6 0 2551 gtex_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 function 去的术语 Evidence Neuro keywords PubMed ID
GO:0004418 hydroxymethylbilane synthase activity TAS 2025226
GO:0016740 transferase activity IEA -
Biological process 去的术语 Evidence Neuro keywords PubMed ID
GO:0006783 heme biosynthetic process IEA -
Cellular component 去的术语 Evidence Neuro keywords PubMed ID
GO:0005737 cytoplasm IEA -
GO:0005739 mitochondrion IDA 18029348

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
KEGG PORPHYRIN AND CHLOROPHYLL METABOLISM 41 23 All SZGR 2.0 genes in this pathway
BIOCARTA AHSP PATHWAY 13 6 All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF PORPHYRINS 14 7 All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382 904 All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY SERUM DEPRIVATION UP 552 347 All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 1781 1082 All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND DOXORUBICIN DN 770 415 All SZGR 2.0 genes in this pathway
LASTOWSKA NEUROBLASTOMA COPY NUMBER DN 800 473 All SZGR 2.0 genes in this pathway
AMUNDSON RESPONSE TO ARSENITE 217 143 All SZGR 2.0 genes in this pathway
MOHANKUMAR TLX1 TARGETS UP 414 287 All SZGR 2.0 genes in this pathway
SPIELMAN LYMPHOBLAST EUROPEAN VS ASIAN UP 479 299 All SZGR 2.0 genes in this pathway
DN NUYTTEN EZH2目标 1024 594 All SZGR 2.0 genes in this pathway
BUYTAERT PHOTODYNAMIC THERAPY STRESS DN 637 377 All SZGR 2.0 genes in this pathway
LIU NASOPHARYNGEAL CARCINOMA 70 38 All SZGR 2.0 genes in this pathway
GOTZMANN EPITHELIAL TO MESENCHYMAL TRANSITION DN 206 136 All SZGR 2.0 genes in this pathway
BENPORATH MYC TARGETS WITH EBOX 230 156 All SZGR 2.0 genes in this pathway
MORI SMALL PRE BII LYMPHOCYTE DN 76 52 All SZGR 2.0 genes in this pathway
WELCH GATA1 TARGETS 22 12 All SZGR 2.0 genes in this pathway
MANALO HYPOXIA DN 289 166 All SZGR 2.0 genes in this pathway
FERNANDEZ BOUND BY MYC 182 116 All SZGR 2.0 genes in this pathway
LEE AGING NEOCORTEX DN 80 49 All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS LATE PROGENITOR 544 307 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 14HR DN 298 200 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 20HR DN 101 70 All SZGR 2.0 genes in this pathway
布莱洛克ALZHEIMERS DISEASE UP 1691 1088 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 48HR DN 504 323 All SZGR 2.0 genes in this pathway
MARSON BOUND BY E2F4 UNSTIMULATED 728 415 All SZGR 2.0 genes in this pathway
GOLDRATH ANTIGEN RESPONSE 346 192 All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305 895 All SZGR 2.0 genes in this pathway
HOFFMANN SMALL PRE BII TO IMMATURE B LYMPHOCYTE UP 70 49 All SZGR 2.0 genes in this pathway
SHAFFER IRF4 TARGETS IN MYELOMA VS MATURE B LYMPHOCYTE 101 76 All SZGR 2.0 genes in this pathway
SHAFFER IRF4 TARGETS IN ACTIVATED B LYMPHOCYTE 81 66 All SZGR 2.0 genes in this pathway
COULOUARN TEMPORAL TGFB1 SIGNATURE UP 109 68 All SZGR 2.0 genes in this pathway
FOURNIER ACINAR DEVELOPMENT LATE 2 277 172 All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103 714 All SZGR 2.0 genes in this pathway
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 17 181 101 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 30MIN DN 150 99 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 4HR DN 254 158 All SZGR 2.0 genes in this pathway
MARTENS TRETINOIN RESPONSE DN 841 431 All SZGR 2.0 genes in this pathway
ACOSTA PROLIFERATION INDEPENDENT MYC TARGETS DN 116 74 All SZGR 2.0 genes in this pathway
DELACROIX RAR BOUND ES 462 273 All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA family Target position miRNA ID miRNA seq
UTR start UTR end Match method
miR-143 192 198 m8 hsa-miR-143大脑 UGAGAUGAAGCACUGUAGCUCA
miR-409-5p 230 236 1A hsa-miR-409-5p AGGUUACCCGAGCAACUUUGCA