CYGB
protein-codingcytoglobin
Gene summary
This gene encodes a globin protein found in vertebrate cells. The encoded protein is described as a hexacoordinate hemoglobin which binds ligand differently from the pentacoordinate hemoglobins involved in oxygen transport, and may be involved in protection during oxidative stress. This gene is located on chromosome 17 in the same region as a retinal gene which is mutated in progressive rod-cone degeneration, but in the opposite orientation. [provided by RefSeq, Jan 2012]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~23.8 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to CYGB variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_134268.5. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 2 | ||||
| missense | 31 | 1 | 32 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 32 | 1 | 2 | 35 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_599030.1 | 4 | MANE Select | |
| Ensembl | ENSP00000293230.4 | 4 | MANE Select | |
| Ensembl | ENSP00000468559.1 | 3 | Standard | |
| Ensembl | ENSP00000468559.1 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Metabolism of nitric oxide
- eNOS activation
- eNOS activation and regulation
- Metabolism
- Transport of small molecules
Biological Process
- response to hypoxia
- response to oxidative stress
- negative regulation of fibroblast migration
- oxygen transport
- fatty acid oxidation
Molecular Function
- catalase activity
- peroxidase activity
- oxygen carrier activity
- iron ion binding
- protein binding
Cellular Component
- cytosol
- nuclear speck
- neuron projection
- neuronal cell body
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000293230
- Coding exons
- 4
- Length
- 23820
- Individuals with no LoFs
- 125109
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 3
- Defined
- 125112
- p
- 0.0000120
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.846 | 91 | 117 | 0.780 | 0.00000676 | 1227 |
| Missense (PolyPhen) | 32 | 39.124 | 0.8179 | 426 | ||
| Synonymous | 0.618 | 46 | 51.7 | 0.891 | 0.00000344 | 372 |
| Loss of Function | 1.87 | 3 | 9.07 | 0.331 | 5.57e-7 | 93 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.000065 | 0.000054 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000019 | 0.000018 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May have a protective function during conditions of oxidative stress. May be involved in intracellular oxygen storage or transfer.;
Recessive Scores
- pRec
- 0.287
Intolerance Scores
- LoFtool
- 0.149
- RVIS EVS
- -0.43
- RVIS percentile EVS
- 25.15
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.316
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | High |
| Cancer | Medium | Medium | Medium |