9.B.360.  The Autism-related TMEM187 (TMEM187) Family 

The human TMEM187 gene is expressed in the brain and interacts with four known autism spectrum disease (ASD) genes, namely, HCFC1; TMLHE; MECP2; and GPHN (Rafi et al. 2019). TMM187 is in linkage with MECP2, which is a well-known determinant of brain structure and size and is a well-known autism gene. Other members of the TMEM gene family, TMEM132E and TMEM132D genes are associated with bipolar and panic disorders, respectively, while TMEM231 is a known syndromic autism gene. Together, TMEM187 and SYTL4 genes directly interact with recognized important ASD genes, and their mRNAs are found in extracellular vesicles in the nervous system and stimulate target cells to translate into active protein (Rafi et al. 2019). Homologues may have 8 or 4 or possibly 2 TMSs.


 

References:

Rafi, S.K., A. Fernández-Jaén, S. Álvarez, O.W. Nadeau, and M.G. Butler. (2019). High Functioning Autism with Missense Mutations in Synaptotagmin-Like Protein 4 (SYTL4) and Transmembrane Protein 187 (TMEM187) Genes: SYTL4- Protein Modeling, Protein-Protein Interaction, Expression Profiling and MicroRNA Studies. Int J Mol Sci 20:.
Examples:

TC#NameOrganismal TypeExample
9.B.360.1.1

TMEM187 of 261 aas and 7 TMSs. The Q236H variant is near the C-terminus. Like SYTL4 (TC# 9.A.57.1.8), the TMEM187 gene is expressed in the brain and interacts with four known Autism spectrum disorder ASD genes, namely, HCFC1; TMLHE; MECP2; and GPHN. TMM187 is in linkage with MECP2, which is a well-known determinant of brain structure and size and is an autism gene. Other members of the TMEM gene family, TMEM132E and TMEM132D genes are associated with bipolar and panic disorders, respectively, while TMEM231 is a known syndromic autism gene (Rafi et al. 2019).

TMEM187 of Homo sapiens

 
9.B.360.1.2

Uncharacterized protein of 260 aas and 8 TMSs.

UP of Ciona intestinalis

 
9.B.360.1.3

Uncharacterized protein of 214 aas and 4 - 6 TMSs.

UP of Pocillopora damicornis

 
9.B.360.1.4

Uncharacterized protein of 121 aas and 2 TMSs.  This might be a C-terminally truncated protein.

UP of Apostichopus japonicus

 
9.B.360.1.5

Uncharacterized protein of 280 aas with 4 N-terminal TMSs.

UP of Priapulus caudatus

 
9.B.360.1.6

Uncharacterized protein of 310 aas and 7 (or 8) TMSs

UP of Capsaspora owczarzaki

 
9.B.360.1.7

TMEM187 protein with 182 aas and 4 TMSs.

TMEM187 protein of Cynoglossus semilaevis

 
9.B.360.1.8

Transmembrane protein 187-like of 164 aas and 4 TM

TMEM187 of Acropora digitifera