MAEA

macrophage erythroblast attacher, E3 ubiquitin ligase, the group of CTLH complex

Basic information

Region (hg38): 4:1289887-1340147

Links

ENSG00000090316

∙ NCBI:10296 ∙ OMIM:606801 ∙ HGNC:13731 ∙ Uniprot:Q7L5Y9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

not_specified (39 variants)
not_provided (2 variants)

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. These statistics are base on transcript: NM_001017405.3. 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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous					2 clinvar	2
missense			38 clinvar	1 clinvar		39
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	38	1	2

Loading clinvar variants...

GnomAD

Source: gnomAD

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: dbNSFP

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