RBM5 Chromosome 3

RNA binding motif protein 5

1 variant 1 Health Risk

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What This Gene Does

This gene is a candidate tumor suppressor gene which encodes a nuclear RNA binding protein that is a component of the spliceosome A complex. The encoded protein plays a role in the induction of cell cycle arrest and apoptosis through pre-mRNA splicing of multiple target genes including the tumor suppressor protein p53. This gene is located within the tumor suppressor region 3p21.3, and may play a role in the inhibition of tumor transformation and progression of several malignancies including lung cancer. [provided by RefSeq, Oct 2011]

Gene Info

Gene Group

"Zinc fingers C2H2-type|Zinc fingers RANBP2-type|G-patch domain containing|RNA binding motif containing|Spliceosomal A complex"

Locus Type

gene with protein product

Location

3p21.31

Ensembl

ENSG00000003756

Associated Conditions (1)

Male infertility with azoospermia or oligozoospermia due to single gene mutation

Key Variants

RS201956265

Likely pathogenic

Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS201956265	Health Risk	Likely pathogenic	Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation