Table 2.
Summary of genes involved in microdeletions and microduplications of human chromosome 17p13.3.
| Gene | Functional relevance | References |
|---|---|---|
| BHLHA9* | Encodes a protein from the basic helix-loop-helix family; transcription factor involved in limb development | Klopocki et al., 2012 |
| YWHAE | Encodes protein 14-3-3ε which is a phosphoserine/threonine-binding protein and a critical regulator of neurogenesis and neuronal differentiation | Cornell et al., 2016 |
| CRK | Encodes a signaling protein downstream of Reelin; functions in cell proliferation, differentiation, migration, axonal growth | Huang et al., 2004; Matsuki et al., 2008; Park and Curran, 2008; Barros Fontes et al., 2017 |
| MYO1C | Encodes a member of the unconventional myosin family (myosin class 1); actin-based molecular motor with ATPase activity; nuclear isoform associates with RNA polymerase I and II to initiate transcription | Desh et al., 2014; Sarshad et al., 2014; Arif et al., 2016 |
| INPP5K | Encodes a protein that is a potential negative regulator of the actin cytoskeleton | Rahman et al., 2011 |
| PITPNA | Encodes a protein member of a family of lipid-binding proteins that transfer molecules of phosphatidylinositol/choline between membrane surfaces; implicated in phospholipase C signaling; implicated in production of phosphatidylinositol 3,4,5-triphosphate | Kular et al., 1997; Morgan et al., 2004 |
| SLC43A2 | Encodes a member of SLC43 (L-amino acid transporter 3) transporter protein family; mediates transport of L-isomers of neutral amino acids in a pH-, sodium-, and chloride- independent manner; implicated in the transfer of amino acids across the placenta to the fetus | Bodoy et al., 2005, 2013 |
| SCARF1 | Encodes scavenger receptor protein that is expressed in endothelial cells; regulates uptake of chemically-modified low-density lipoproteins | Dhaliwal and Steinbrecher, 1999; Ishii et al., 2007 |
| RILP | Encodes a lysosomal protein; potentially a downstream regulator of RAB7; RAB7 and RILP potentially interact to regulate endocytic traffic; potential regulator of lysosomal morphology | Cantalupo et al., 2001; Jordens et al., 2001; Harrison et al., 2003; van der Kant et al., 2013 |
| PRPF8 | Encodes a protein that is a part of the U2- and U12- dependent spliceosomal machinery; essential for step II of pre-mRNA splicing | Grainger and Beggs, 2005; Boesler et al., 2015; Wickramasinghe et al., 2015 |
| TLCD2 | Encodes TLC domain containing two proteins; unknown function | Zody et al., 2006 |
| WDR81 | Encodes a multi-domain transmembrane protein; predominantly expressed in brain; potential role in endolysosomal trafficking | Liu et al., 2017; Shaheen et al., 2017 |
| SERPINF2 | Encodes a member of the serpin family of serine protease inhibitors; major inhibitor of plasmin, which degrades fibrin and various other proteins | Abdul et al., 2016 |
| SERPINF1 | Encodes a member of the serpin family (no protease inhibitory activity, secreted protein); strongly inhibits angiogenesis, neurotrophic factor | Johnen et al., 2015 |
| SMYD4 | Encodes a protein with a SET domain, which often has lysine methyltransferase activity for histone modification; potential tumor suppressor gene | Hu et al., 2009 |
| RPA1 | Encodes the largest subunit of the heterotrimeric Replication Protein A (RPA) complex; role in recruiting molecules to DNA | Dubois et al., 2017; Zhang et al., 2017 |
| RTN4RL1 | Encodes a protein with a GPI-anchored domain and LRR motif; also known as Nogo receptor 3 (NgR3), a paralog of NgR1 | Zhang et al., 2011 |
| DPH1/OVCA1 | Encodes an enzyme involved in the biosynthesis of diphthamide; defects associated with autosomal recessive intellectual and craniofacial dysmorphisms | Loucks et al., 2015 |
| OVCA2 | Encodes a protein that is related to a variety of α-β hydrolases including esterases, lipases, and other enzymes; highly conserved gene | Prowse et al., 2002 |
| HIC1 | Tumor repressor gene, cell cycle regulator | Kumar, 2014; Janeckova et al., 2015; Hao et al., 2017 |
| SMG6 | Encodes a component of the telomerase ribonucleoprotein complex; role in nonsense-mediated mRNA decay (NMD) pathway | Chakrabarti et al., 2014; Nicholson et al., 2014; Schmidt et al., 2015; Colombo et al., 2017; Ottens et al., 2017 |
| SRR | Encodes serine racemase, which produces the NMDA co-agonist D-serine that is implicated in Alzheimer's disease, ALS, ischemic brain damage, and schizophrenia | Nelson et al., 2017 |
| TSR1 | Encodes a serine-arginine-rich protein; splicing factor, affects mRNA stability and rRNA processing | Gupta et al., 2014 |
| SGSM2 | Encodes a GTPase activator; regulates enzyme trafficking | Marubashi et al., 2016 |
| MNT | Encodes a protein in the Myc/Max/Mad network that has a basic-Helix-Loop-Helix-zipper domain; represses transcription | Link and Hurlin, 2015 |
| METTL16 | Encodes a methyltransferase; required for MAT2A splicing (MAT2A encodes the SAM synthetase expressed in most cells) | Pendleton et al., 2017 |
| PAFAH1B1 | Encodes non-catalytic α subunit of the intracellular Ib isoform of platelet-activating factor acetylhydrolase, which catalyzes the removal of an acetyl group on platelet-activating factor; deletion results in classical lissencephaly | Nagamani et al., 2009 |
Genes are listed in the approximate order they are found in the sequence. NCBI Gene Database: Gene [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; 2004—[cited 2017 10 19] (Available from: https://www.ncbi.nlm.nih.gov/gene/).
*
Located within chromosome 17p13.3, but immediately outside the MDS critical region.