MAPRE3

protein-coding

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

Gene summary

The protein encoded by this gene is a member of the RP/EB family of genes. The protein localizes to the cytoplasmic microtubule network and binds APCL, a homolog of the adenomatous polyposis coli tumor suppressor gene. [provided by RefSeq, Jul 2008]

MANE transcript

NM_012326.4

Inheritance

—

ClinVar variants

U:22

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.16

Max pathogenic AF

—

Genomic locus

chr2:26,970,637-27,027,219

External References & Databases

Ensembl (ENSG00000084764)

Transcript & Mutation Effects

hg38 • Region Span ~56.6 kb

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GenCC 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 MAPRE3 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 21

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_012326.4. 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			21 clinvar			21
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	22	0	0	22

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 41 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_012326.4	RefSeq	NP_036458.2	6	MANE Select
ENST00000233121.7	Ensembl	ENSP00000233121.2	6	MANE Select
NM_001303050.2	RefSeq	NP_001289979.1	6	Standard
NM_001410716.1	RefSeq	NP_001397645.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

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

Molecular Function

protein binding
microtubule binding
protein C-terminus binding
protein kinase binding
identical protein binding

Cellular Component

cytoplasm
microtubule organizing center
microtubule
cytoplasmic microtubule
midbody

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000233121
Coding exons: 6
Length: 56585
Individuals with no LoFs: 125727
Homozygous LoFs: 0
Heterozygous LoFs: 2
Defined: 125729
p: 0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.36	79	164	0.481	0.00000916	1876
Missense (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

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	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000088	0.0000088	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

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

RVIS EVS: -0.27
RVIS percentile EVS: 33.97

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.844

Gene Damage Prediction

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