MATR3 (Gene)

Organism:

Homo sapiens

Synonyms:ALS21, ENTREZ:9782, HGNC:6912, MATR3, MIM:164015, MPD2, NM_001194954, NM_001194955, NM_001194956, NM_001282278, NM_018834, NM_199189, NP_001181883, NP_001181884, NP_001181885, NP_001269207, NP_061322, NP_954659, VCPDM, matrin 3

Id:ENSG00000280987

Description:matrin 3 [Source:NCBI gene (formerly Entrezgene);Acc:9782]

This gene encodes a nuclear matrix protein, which is proposed to stabilize certain messenger RNA species. Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts composed of the upstream small nucleolar RNA host gene 4 (non-protein coding) and matrin 3 gene sequence, have been identified. Pseudogenes of this gene are located on chromosomes 1 and X. [provided by RefSeq, Aug 2013]

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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View MATR3's neighborhood in the knowledge graph.

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Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with MATR3.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using MATR3.

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GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for MATR3.

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Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with MATR3.

Results found

Linked to

	Label	Description
	Anxiety Phenotype (Entity type)	Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses...
	Depression Phenotype (Entity type)	Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover fr...
	Myopathy Phenotype (Entity type)	A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
	Dementia Phenotype (Entity type)	A loss of global cognitive ability of sufficient amount to interfere with normal social or occupatio...

Anxiety

Phenotype (Entity type)

Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses...

Depression

Phenotype (Entity type)

Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover fr...

Myopathy

Phenotype (Entity type)

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.

Dementia

Phenotype (Entity type)

A loss of global cognitive ability of sufficient amount to interfere with normal social or occupatio...

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CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

This repository is under review for potential modification in compliance with Administration directives.