MAPRE3

microtubule associated protein RP/EB family member 3, the group of Microtubule associated protein RP/EB family

Basic information

Region (hg38): 2:26970637-27027219

Links

ENSG00000084764

∙ NCBI:22924 ∙ OMIM:605788 ∙ HGNC:6892 ∙ Uniprot:Q9UPY8 ∙ 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 MAPRE3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAPRE3 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						0
missense			6 clinvar			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	0

Variants in MAPRE3

This is a list of pathogenic ClinVar variants found in the MAPRE3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Phenotype	Significance	ClinVar
2-27023458-A-G	not specified	Uncertain significance (Mar 18, 2024)	3293278
2-27024235-C-T	not specified	Uncertain significance (Feb 28, 2023)	2471558
2-27024268-A-G	not specified	Uncertain significance (Nov 07, 2024)	3543255
2-27024288-G-A	not specified	Uncertain significance (Mar 29, 2022)	2280316
2-27025616-A-T	not specified	Uncertain significance (Nov 20, 2024)	3543256
2-27025655-C-A	not specified	Uncertain significance (Nov 09, 2024)	3543254
2-27025682-C-T	not specified	Uncertain significance (May 28, 2023)	2552459
2-27025723-G-A	not specified	Uncertain significance (Sep 06, 2022)	2310300
2-27025887-A-T	not specified	Uncertain significance (Mar 24, 2023)	2529231
2-27026316-G-C	not specified	Uncertain significance (Apr 07, 2022)	2349551

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAPRE3	protein_coding	protein_coding	ENST00000233121	6	56585

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.716	0.284	125727	0	2	125729	0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.36	79	164	0.481	0.00000916	1876
Missense in Polyphen		10	45.798	0.21835		568
Synonymous	0.535	58	63.4	0.914	0.00000380	508
Loss of Function	2.80	2	12.8	0.156	6.28e-7	152

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.00000879	0.00000879
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Plus-end tracking protein (+TIP) that binds to the plus- end of microtubules and regulates the dynamics of the microtubule cytoskeleton. Promotes microtubule growth. May be involved in spindle function by stabilizing microtubules and anchoring them at centrosomes. Also acts as a regulator of minus-end microtubule organization: interacts with the complex formed by AKAP9 and PDE4DIP, leading to recruit CAMSAP2 to the Golgi apparatus, thereby tethering non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:28814570). Promotes elongation of CAMSAP2-decorated microtubule stretches on the minus-end of microtubules (PubMed:28814570). May play a role in cell migration (By similarity). {ECO:0000250, ECO:0000269|PubMed:19255245, ECO:0000269|PubMed:28814570}.;

Recessive Scores

pRec: 0.118

Intolerance Scores

loftool
rvis_EVS: -0.27
rvis_percentile_EVS: 33.97

Haploinsufficiency Scores

pHI: 0.918
hipred: Y
hipred_score: 0.739
ghis: 0.707

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.844

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Low	Low	Low
Cancer	Low	Low	Low

Mouse Genome Informatics

Gene name: Mapre3
Phenotype: hematopoietic system 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);

Gene ontology

Biological process: protein localization;regulation of microtubule polymerization or depolymerization;protein localization to microtubule;positive regulation of cyclin-dependent protein serine/threonine kinase activity;positive regulation of protein kinase activity;positive regulation of transcription, DNA-templated;spindle assembly;cell division;positive regulation of microtubule plus-end binding;protein localization to microtubule plus-end
Cellular component: cytoplasm;microtubule organizing center;microtubule;cytoplasmic microtubule;midbody;microtubule plus-end;spindle midzone
Molecular function: protein binding;microtubule binding;protein C-terminus binding;protein kinase binding;identical protein binding;microtubule plus-end binding