TENM2

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 17 with intellectual disability, history of leukemia, heart abnormalities, and multiple abnormal bone and cartilage growths (osteochondromas) (read full description).

Date of Report

Jun 03, 2019

Full Name

Teneurin transmembrane protein 2

Location
Chromosome 5 (5q34)


Function

TENM2 encodes for the teneurin-2 protein, which plays a role in synaptogenesis, neurite outgrowth, axon guidance, and neuronal connectivity (Silva et al., 2011).

Database Links

GeneCards: GC05P166979

NCBI Gene: 57451

OMIM: 610119

UniProtKB/Swiss-Prot: Q9NT68

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 TENM2
Inheritance Pattern unknown
Position Chr5:g.167489091A>G, Chr5:g.167617411G>T
Transcript NM_001122679.1
DNA Change c.1336A>G, c.2612G>T
Protein Change p.Ile446Val, p.Arg871Leu
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