9.B.456.  The ELMOD3 (ELMOD3) Family 

The ELMOD3 gene is implicated in causing autosomal recessive/dominant non-syndromic hearing loss in humans. Liu et al. 2023 generated a patient-derived iPSC line carrying ELMOD3 c.512A>G mutation, and the patient-derived iPSC line was corrected by CRISPR/Cas9 genome editing. Then the applied RNA sequencing profiling of the patient-derived iPSC line was compared with different controls, respectively (the healthy sibling-derived iPSCs and the CRISPR/Cas9 corrected iPSCs). Functional enrichment and PPI network analysis revealed that differentially expressed genes (DEGs) were enriched in the gene ontology, such as sensory epithelial development, intermediate filament cytoskeleton organization, and the regulation of ion transmembrane transport (Liu et al. 2023).  The mechanism of action of ELMOD2 was not determined.


 

References:

Liu, X., J. Wen, X. Liu, A. Chen, S. Li, J. Liu, J. Sun, W. Gong, X. Kang, Z. Feng, C. He, L. Mei, J. Ling, and Y. Feng. (2023). Gene regulation analysis of patient-derived iPSCs and its CRISPR-corrected control provides a new tool for studying perturbations of ELMOD3 c.512A>G mutation during the development of inherited hearing loss. PLoS One 18: e0288640.
Examples:

TC#NameOrganismal TypeExample
9.B.456.1.1

The ELMOD3 gene product of 381 aas and 3 putative TMSs between residues 210 and 300.  When mutated, it causes hearing loss compared to controls (Liu et al. 2023). See family description for more details.

ELMOD3 of Homo sapiens

 
9.B.456.1.2

ELMOD3 homologue of 376 aas and 2 or 3 TMSs, one N-terminal and one or two between residues 240 and 300. 

ELMOD3 homolog of Trypanosoma vivax

 
9.B.456.1.3

Uncharacterized protein of 318 aas and 3 - 5 TMSs in a 1 or 2 (residues 70 - 95) + 2 or 3 TMSs (residues 180, 220 and 270, respectiviely) arrangement.

UP of Solanum tuberosum (potato)

 
9.B.456.1.4

ELMO domain-containing protein 2 of at least 2tMSs between residues 55 and 105.

ELMO domain protein of Trichinella spiralis

 
9.B.456.1.5

Uncharacterized protein of 322 aas and 2 - 3 TMSs between residues 170 and 270.

UP of Emiliania huxleyi