MAEA
macrophage erythroblast attacher, E3 ubiquitin ligase, the group of CTLH complex
Basic information
Region (hg38): 4:1289887-1340147
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAEA gene is commonly pathogenic or not.
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.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | |||||
| missense | 11 | 11 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 11 | 0 | 2 |
Variants in MAEA
This is a list of pathogenic ClinVar variants found in the MAEA region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 4-1289947-A-G | not specified | Uncertain significance (Aug 11, 2022) | ||
| 4-1289977-C-T | not specified | Uncertain significance (Nov 08, 2022) | ||
| 4-1311992-C-T | not specified | Uncertain significance (Jan 26, 2023) | ||
| 4-1312102-G-A | not specified | Uncertain significance (Dec 19, 2022) | ||
| 4-1315453-C-T | Benign (Apr 30, 2018) | |||
| 4-1315477-C-T | Benign (Apr 30, 2018) | |||
| 4-1315517-A-G | not specified | Uncertain significance (Jun 24, 2022) | ||
| 4-1315565-A-T | not specified | Uncertain significance (Jun 18, 2024) | ||
| 4-1315575-A-G | not specified | Uncertain significance (Feb 28, 2024) | ||
| 4-1315596-T-C | not specified | Uncertain significance (Oct 04, 2022) | ||
| 4-1315598-G-A | not specified | Uncertain significance (May 11, 2022) | ||
| 4-1332809-C-T | not specified | Uncertain significance (Jan 10, 2022) | ||
| 4-1332812-C-G | not specified | Uncertain significance (Jan 22, 2024) | ||
| 4-1336979-C-T | not specified | Uncertain significance (May 10, 2022) | ||
| 4-1338429-T-C | not specified | Uncertain significance (Jun 05, 2024) | ||
| 4-1339092-C-A | not specified | Uncertain significance (May 29, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| MAEA | protein_coding | protein_coding | ENST00000303400 | 9 | 50297 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.227 | 0.772 | 125707 | 0 | 9 | 125716 | 0.0000358 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.57 | 158 | 279 | 0.567 | 0.0000198 | 2618 |
| Missense in Polyphen | 39 | 87.326 | 0.4466 | 860 | ||
| Synonymous | -1.29 | 135 | 117 | 1.15 | 0.00000903 | 752 |
| Loss of Function | 3.15 | 5 | 20.3 | 0.246 | 0.00000105 | 220 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000628 | 0.0000615 |
| Ashkenazi Jewish | 0.000100 | 0.0000993 |
| East Asian | 0.0000545 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000448 | 0.0000440 |
| Middle Eastern | 0.0000545 | 0.0000544 |
| South Asian | 0.0000366 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required for catalytic activity of the CTLH E3 ubiquitin-protein ligase complex (PubMed:29911972). MAEA is required for normal cell proliferation (PubMed:29911972). The CTLH E3 ubiquitin-protein ligase complex is not required for the degradation of enzymes involved in gluconeogenesis, such as FBP1 (PubMed:29911972). Plays a role in erythroblast enucleation during erythrocyte maturation and in the development of mature macrophages (By similarity). Mediates the attachment of erythroid cell to mature macrophages; this MAEA- mediated contact inhibits erythroid cell apoptosis (PubMed:9763581). Participates in erythroblastic island formation, which is the functional unit of definitive erythropoiesis. Associates with F-actin to regulate actin distribution in erythroblasts and macrophages (By similarity). May contribute to nuclear architecture and cells division events (Probable). {ECO:0000250|UniProtKB:Q4VC33, ECO:0000269|PubMed:29911972, ECO:0000269|PubMed:9763581, ECO:0000305|PubMed:16510120}.;
Recessive Scores
- pRec
- 0.303
Intolerance Scores
- loftool
- 0.434
- rvis_EVS
- -0.85
- rvis_percentile_EVS
- 11.06
Haploinsufficiency Scores
- pHI
- 0.319
- hipred
- Y
- hipred_score
- 0.673
- ghis
- 0.604
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- H
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.765
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Maea
- Phenotype
- behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system phenotype; 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); immune system phenotype; growth/size/body region 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);
Gene ontology
- Biological process
- ubiquitin-dependent protein catabolic process;cytoskeleton organization;cell cycle;cell adhesion;regulation of mitotic cell cycle;protein ubiquitination;negative regulation of myeloid cell apoptotic process;negative regulation of apoptotic process;proteasome-mediated ubiquitin-dependent protein catabolic process;erythrocyte maturation;negative regulation of gluconeogenesis;enucleate erythrocyte development;cell division
- Cellular component
- ubiquitin ligase complex;nucleus;nucleoplasm;cytoplasm;spindle;actomyosin contractile ring;cytoskeleton;integral component of plasma membrane;nuclear matrix;GID complex
- Molecular function
- actin binding;ubiquitin-protein transferase activity;metal ion binding