Gene: RASSF1

Alternate names for this Gene: 123F2|NORE2A|RASSF1A|RDA32|REH3P21

Gene Summary: This gene encodes a protein similar to the RAS effector proteins. Loss or altered expression of this gene has been associated with the pathogenesis of a variety of cancers, which suggests the tumor suppressor function of this gene. The inactivation of this gene was found to be correlated with the hypermethylation of its CpG-island promoter region. The encoded protein was found to interact with DNA repair protein XPA. The protein was also shown to inhibit the accumulation of cyclin D1, and thus induce cell cycle arrest. Several alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.31

Description of this Gene: Ras association domain family member 1

Type of Gene: protein-coding

Gene: ZMYND10

Alternate names for this Gene: BLU|CILD22|DNAAF7|FLU

Gene Summary: This gene encodes a protein containing a MYND-type zinc finger domain that likely functions in assembly of the dynein motor. Mutations in this gene can cause primary ciliary dyskinesia. This gene is also considered a tumor suppressor gene and is often mutated, deleted, or hypermethylated and silenced in cancer cells. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.31

Description of this Gene: zinc finger MYND-type containing 10

Type of Gene: protein-coding

rs200913791 in RASSF1;ZMYND10 gene and CILIARY DYSKINESIA, PRIMARY, 22 PMID 23891469 2013 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

PMID 25186273 2014 Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.

PMID 23891471 2013 Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.

PMID 29601588 2018 ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms.

rs1297857806 in RASSF1;ZMYND10 gene and Ciliary Motility Disorders PMID 23891471 2013 Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.

PMID 23891469 2013 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

rs78166579 in RASSF1;ZMYND10 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.