Gene Page: HMBS
Summary ?
GeneID | 3145 |
Symbol | HMBS |
Synonyms | PBG-D|PBGD|PORC|UPS |
Description | hydroxymethylbilane synthase |
Reference | 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
Gene set name | 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)
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 | GO term | Evidence | Neuro keywords | PubMed ID |
---|---|---|---|---|
GO:0004418 | hydroxymethylbilane synthase activity | TAS | 2025226 | |
GO:0016740 | transferase activity | IEA | - | |
Biological process | GO term | Evidence | Neuro keywords | PubMed ID |
GO:0006783 | heme biosynthetic process | IEA | - | |
Cellular component | GO term | 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 |
NUYTTEN EZH2 TARGETS DN | 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 |
BLALOCK 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-143brain | UGAGAUGAAGCACUGUAGCUCA |
miR-409-5p | 230 | 236 | 1A | hsa-miR-409-5p | AGGUUACCCGAGCAACUUUGCA |
- SZ: miRNAs which differentially expressed in brain cortex of schizophrenia patients comparing with control samples using microarray. Click here to see the list of SZ related miRNAs.
- Brain: miRNAs which are expressed in brain based on miRNA microarray expression studies. Click here to see the list of brain related miRNAs.