HMOX2

heme oxygenase 2

Basic information

Region (hg38): 16:4474690-4510347

Links

ENSG00000103415NCBI:3163OMIM:141251HGNC:5014Uniprot:P30519AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the HMOX2 gene.

  • not_specified (39 variants)
  • not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HMOX2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002134.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
37
clinvar
2
clinvar
39
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 37 2 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
HMOX2protein_codingprotein_codingENST00000570646 535658
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0002620.93612556021851257470.000744
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.1131821860.9770.00001072081
Missense in Polyphen4353.5060.80364620
Synonymous-0.1907875.91.030.00000466593
Loss of Function1.67814.90.5358.02e-7173

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001540.00144
Ashkenazi Jewish0.01310.0130
East Asian0.0001090.000109
Finnish0.00004620.0000462
European (Non-Finnish)0.0001680.000167
Middle Eastern0.0001090.000109
South Asian0.0001010.0000980
Other0.0009790.000978

dbNSFP

Source: dbNSFP

Function
FUNCTION: Heme oxygenase cleaves the heme ring at the alpha methene bridge to form biliverdin. Biliverdin is subsequently converted to bilirubin by biliverdin reductase. Under physiological conditions, the activity of heme oxygenase is highest in the spleen, where senescent erythrocytes are sequestrated and destroyed. Heme oxygenase 2 could be implicated in the production of carbon monoxide in brain where it could act as a neurotransmitter.;
Pathway
Porphyrin and chlorophyll metabolism - Homo sapiens (human);Mineral absorption - Homo sapiens (human);Neutrophil degranulation;oxidative stress induced gene expression via nrf2;heme degradation;Heme degradation;Metabolism of porphyrins;Innate Immune System;Immune System;Metabolism;Transport of small molecules;Iron uptake and transport (Consensus)

Recessive Scores

pRec
0.626

Intolerance Scores

loftool
0.879
rvis_EVS
-0.76
rvis_percentile_EVS
13.45

Haploinsufficiency Scores

pHI
0.0905
hipred
N
hipred_score
0.350
ghis
0.546

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.999

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Hmox2
Phenotype
integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype; muscle phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; digestive/alimentary phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);

Gene ontology

Biological process
response to hypoxia;heme oxidation;cellular iron ion homeostasis;response to oxidative stress;heme catabolic process;neutrophil degranulation;iron ion homeostasis
Cellular component
endoplasmic reticulum membrane;plasma membrane;membrane;specific granule membrane
Molecular function
heme oxygenase (decyclizing) activity;protein binding;heme binding;metal ion binding