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MRXSPF

Chr X

transcription factor binding to IGHM enhancer 3

Also known as: MRXSPF, RCCP2, RCCX1, TFEA, bHLHe33

This gene encodes a basic helix-loop-helix domain-containing transcription factor that binds MUE3-type E-box sequences in the promoter of genes. The encoded protein promotes the expression of genes downstream of transforming growth factor beta (TGF-beta) signaling. This gene may be involved in chromosomal translocations in renal cell carcinomas and other cancers, resulting in the production of fusion proteins. Translocation partners include PRCC (papillary renal cell carcinoma), NONO (non-POU domain containing, octamer-binding), and ASPSCR1 (alveolar soft part sarcoma chromosome region, candidate 1), among other genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

ResearchGenerating clinical summary…
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Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
LOEUF
Mechanism
Some data sources returned errors (3)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/MRXSPF?content-type=application/json

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

MRXSPF · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

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