MYDGF
protein-codingmyeloid derived growth factor
Gene summary
The protein encoded by this gene was previously thought to support proliferation of lymphoid cells and was considered an interleukin. However, this activity has not been reproducible and the function of this protein is currently unknown. [provided by RefSeq, Jul 2008]
- IL27
- IL27w
- C19orf10
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~29.0 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 MYDGF variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_019107.4. 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 | 0 | |||||
| missense | 29 | 29 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 30 | 0 | 0 | 30 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_061980.1 | 6 | MANE Select | |
| Ensembl | ENSP00000262947.2 | 6 | MANE Select | |
| Ensembl | ENSP00000469945.1 | 5 | Standard | |
| Ensembl | ENSP00000469945.1 | 5 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- XBP1(S) activates chaperone genes
Biological Process
- angiogenesis
- positive regulation of protein phosphorylation
- positive regulation of endothelial cell proliferation
- apoptotic process
- positive regulation of phosphatidylinositol 3-kinase signaling
Molecular Function
- protein binding
Cellular Component
- extracellular space
- endoplasmic reticulum lumen
- endoplasmic reticulum-Golgi intermediate compartment
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000262947
- Coding exons
- 6
- Length
- 28997
- Individuals with no LoFs
- 125723
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 22
- Defined
- 125745
- p
- 0.0000875
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.857 | 71 | 94.4 | 0.752 | 0.00000513 | 1090 |
| Missense (PolyPhen) | 30 | 33.499 | 0.89556 | 386 | ||
| Synonymous | -0.769 | 48 | 41.7 | 1.15 | 0.00000260 | 333 |
| Loss of Function | 0.385 | 9 | 10.3 | 0.871 | 5.40e-7 | 107 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00012 | 0.00012 | rare |
| Latino/Admixed American | 0.000089 | 0.000087 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.000054 | 0.000054 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000062 | 0.000062 | rare |
| South Asian | 0.00016 | 0.00016 | rare |
| Other | 0.00066 | 0.00065 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Bone marrow-derived monocyte and paracrine-acting protein that promotes cardiac myocyte survival and adaptive angiogenesis for cardiac protection and/or repair after myocardial infarction (MI). Stimulates endothelial cell proliferation through a MAPK1/3-, STAT3- and CCND1-mediated signaling pathway. Inhibits cardiac myocyte apoptosis in a PI3K/AKT-dependent signaling pathway (By similarity). Involved in endothelial cell proliferation and angiogenesis (PubMed:25581518). {ECO:0000250|UniProtKB:Q9CPT4, ECO:0000269|PubMed:25581518}.;
Recessive Scores
- pRec
- 0.138
Intolerance Scores
- RVIS EVS
- 0.22
- RVIS percentile EVS
- 67.92
Essentials
- Essential (gene trap)
- N