ETS1

On this page, you will find information about genetic changes that were identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

Changes in this gene were identified in a male, age 15 with plastic bronchitis, recurrent pneumonia and ear infections (otitis media) (read full description).

Date of Report

Oct 25, 2019

Full Name

ETS proto-oncogene 1, transcription factor

Location
Chromosome 11 (11q24.3)


Function

The ETS1 gene codes for a protein in the highly conserved ETS family. This protein is a transcription factor that plays a role in cell proliferation, differentiation, angiogenesis, and lymphoid cell development. Proteins in the ETS family have also been found to play an important role in the function of the mammalian immune system (Li et al., 2000).

Database Links

GeneCards: GC11M128458

Genetics Home Reference: ETS1

NCBI Gene: 2113

OMIM: 164720

UniProtKB/Swiss-Prot: P14921

Clinical Significance

Changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.

Gene ETS1
Inheritance Pattern
Position chr11:128442970; chr11:128350323
Transcript NM_001143820; NM_001143820
DNA Change c.56G>A; c.886T>A
Protein Change p.Arg19His; p.Phe296Ile
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