Table 2 NS-ID genes and their protein products and functions Information about subcellular localization and protein domains were found using HPRD (www.hprd.org); SMART (http://smart.embl-heidelberg.de) and the NCBI gene database (http://www.ncbi.nlm.nih.gov)
From: The genetic basis of non-syndromic intellectual disability: a review
Gene Name | NS or Sa | Linked to Autism | Protein Product | Function | Subcellular localization (HPRD) | Protein Domains (SMART; HPRD; Bold-NCBI gene) |
|---|---|---|---|---|---|---|
ACSL4 | NS | N | Acyl-CoA synthetase long-chain family member 4 | Fatty acid metabolism | Microsome; Mitochondia | 1 TM |
AFF2/FMR2 | NS | Y | Fragile X mental retardation 2 | DNA binding protein: Potential activator of transcription | Nucleus | AF4 homology |
AGTR2 | NS/S | N | Angiotensin II receptor, type 2 | G-protein-coupled receptor for Angiotensin II; mediator of programmed cell death | Plasma membrane | 7 TM |
AP1S2 | NS/S | N | Adaptor-related protein complex 1 sigma 2 subunit | Complex involved in clathrin recruitment and sorting signal recognition. Synaptic vesicles/neurotransmitter release | Golgi apparatus | Clat Adaptor S |
ARHGEF6 | NS | N | Rac/Cdc42 guanine nucleotide exchange factor 6 | GEF for Rac and Cdc42 | Cytoplasm | CH; SH3; RhoGEF; PH; CC |
ARX | NS/S | Y | Aristaless related homeobox | Transcriptional regulation during development | Nucleus | HOX; CC |
ATRX | NS/S | N | Transcriptional regulator ATRX | Chromatin remodeling | Nucleus | RING; CC; HELICc; DEXDc; SNF2_N |
BRWD3 | NS/S | N | Bromo domain and WD repeat domain-containing protein 3 | JAK/STAT signaling in drosophila; Putative Chromatin Modifier | Nucleus | 8x WD40; 2x BROMO |
CASK | NS/S | N | Calcium/calmodulin-dependent serine protein kinase | Kinase and scaffolding at synapses; MAGUK family protein | Synaptic junction, plasma membrane; Nucleus; Cytoplasm | S_TKc; 2x L27; PDZ; SH3; GuKc; |
CC2D1A | NS | N | Coiled-coil and C2 domain containing 1A | Transcriptional regulator of neurotransmitter receptors; NF-kB pathway activator | Nucleus; Cytoplasm | 2x CC; C2; 4x DM14; |
CDH15 | NS/S | N | Cadherin 15 | Ca2+ dependant intercellular adhesion protein | Plasma membrane | SP; 5x CA; 1x TM; Cadherin_C |
CRBN | NS | N | Cereblon | Expression of potassium channels | Plasma membrane; cytoplasm | LON |
DLG3 | NS | N | Synapse-associated protein 102 | Organization and scaffolding at post-synaptic density; MAGUK family protein | Synaptic junction, plasma membrane; endoplasmic reticulum; cytoplasm | 3x PDZ; SH3; GuKc |
DOCK8 | Â | N | Dedicator of cytokinesis 8 | Potential guanine nucleotide exchange factor (GEF); putative organizer of filamentous actin | Plasma membrane; cytoplasm; nucleus | Ded_cyto; 2x CC; C2; DUF3398 |
FGD1 | NS/S | N | Faciogenital dysplasia protein | GEF for Cdc42 | Cytoplasm; cytoskeleton | RhoGEF; 2x PH; FYVE; DH |
FTSJ1 | NS | N | FtsJ homolog 1 | Processing and modification of rRNA | Nucleolus | AdoMet_MTases |
GDI1 | NS | N | GDP dissociation inhibitor 1 | Inhibitor of Rab GTPases | Cytoplasm | NABD_Rossmann |
GRIK2 | NS | Y | Glutamate receptor, ionotropic,, kainate 2 | Subunit of synaptic glutamate receptor (KARs) | Plasma membrane-synapse | SP; 4x TM; Lig_chan; PBPe; ANF_receptor; Periplasmic_Binding_Protein_Type_1 |
HUWE1 | NS/S | N | HECT, UBA and WWE domain containing 1 | Ubiquitin E3 ligase; protein ubiquitination pathway | Nucleus; cytoplasm | DUF908; DUF913; UBA; WWE; UIM; HECTc; 2x CC |
IL1RAPL1 | NS | Y | Interleukin 1 receptor accessory protein-like 1 | Part of the interleukin 1 receptor family; neuronal calcium-regulated vesicle release and dendrite differentiation | Plasma membrane | SP; 2x IG; IGc2; 1x TM; TIR |
JARID1C/KDM5C | NS | Y | Jumonji, AT rich interactive domain 1C | Transcriptional regulation and chromatin remodeling | Nucleus | JmjN; BRIGHT; 2x PHD; JmjC; CC; Zf-C5HC2; PLU-1 |
KIRREL3 | NS/S | N | kin of IRRE like 3 | Unknown: Potentially involved in synaptogenesis | Plasma membrane; cytoplasm; extracellular | SP; 3x IG; IGc2; 1x TM |
MAGT1 | NS | N | Magnesium transporter 1 | Cellular Mg2+ uptake; oligosaccharide transferase; N-glycosylation | ER membrane | 5x TM; OST3_OST6; TRX_family |
MBD5 | NS/S | N | methyl-CpG binding domain protein 5 | Putative role in transcriptional regulation | Nucleus | PWWP; MBD |
MECP2 | NS/S | Y | Methyl CpG binding protein 2 | Methyl binding to control transcription | Nucleus | MBD; 2x AT Hook |
NLGN4X | NS | Y | X-linked neuroligin 4 | Synapse adhesion protein | Plasma membrane-synapse | SP; 2x TM; PnbA; esterase_lipase |
OPHN1 | NS/S | N | Oligophrenin 1 | Rho-GTPase activating protein | Cytoplasm | CC; PH; RhoGAP |
PAK3 | NS | N | p21-activated kinase 3 | Downstream effector of Rho-GTPases | Cytoplasm | PBD; S_TKc |
PQBP1 | NS/S | N | Polyglutamine binding protein 1 | Transcriptional activation | Nucleus; cytoplasm; nucleolus | WW |
PRSS12 | NS | N | Neurotrypsin | Synaptic protease, cleaves agrin; synaptic plasticity | Extracelluar | SP; KR; 4x SR; Tryp_SPc |
PTCHD1 | NS | Y | Patched domain 1 | Putative Hedgehog receptor | Plasma membrane | 12x TM; Ptc; MMPL |
RPS6KA3 | NS/S | N | Ribosomal protein S6 kinase, 90kDa, polypeptide 3 | Ras/Map/ERK signaling pathway | Cytoplasm | 2x S_TKc; S_TK_X |
SHANK2 | NS | Y | SH3 and multiple ankyrin repeat domains 2 | Scaffolding and cell adhesion protein; Synaptic plasticity | Dendrite; cytoplasm; post-synaptic density | 6x ANK; SH3; PDZ; SAM |
SHROOM4 | NS/S | N | Shroom family member 4 | Cytoskeletal architecture | Cytoplasm | PDZ; 3x CC; ASD2 |
SLC6A8 | NS | N | Solute carrier family 6 member 8 | Creatine transporter | Plasma membrane | 12x TM; SNF |
STXBP1 | NS | N | Syntaxin-binding protein 1 | Synaptic vesicle docking and fusion; neurotransmission | Plasma membrane-synapse; cytoplasm | SEC1 |
SYNGAP1 | NS | N | Synaptic Ras GTPase activating protein 1 | Part of the NMDA receptor complex; Negative regulation of Ras/Map/ERK pathway | Plasma membrane-synapse | PH; C2; RasGAP; CC; DUF3498 |
SYP | NS/S | N | Synaptophysin | Synaptic vesicle protein | Synapse/vesicle membrane | 4x TM; MARVEL |
TSPAN7 | NS/S | N | Tetraspanin 7 | Unknown: Transmembrane protein potentially involved in synapse maturation | Plasma membrane/synapse | Tetraspanin/4x TM |
TRAPPC9 | NS | N | NIK- and IKKB-binding protein | Neuronal NF-kB signalling, vesicular transport | Golgi; ER; Cytoplasm | Trs120 |
TUSC3 | NS | N | Tumor suppressor candidate 3 | Mg2+ uptake, oligosaccharide transferase; N-glycosylation | ER membrane | 5x TM; OST3_OST6 |
UPF3B | NS/S | Y | UPF3 regulator of nonsense transcripts homolog B | mRNA nuclear export and surveillance | Nucleus; Cytoplasm; Nucleolus | SMG4_UPF3; 2x CC; 5x NLS |
ZNF41 | NS | N | Zinc finger protein 41 | Putative repressor of transcription | Nucleus | KRAB; 17x ZnF_C2H2 |
ZNF674 | NS | N | Zinc finger protein 674 | Putative repressor of transcription | Nucleus | KRAB; 11x ZnF_C2H2; |
ZNF711 | NS | N | Zinc finger protein 711 | Unknown: Putative activator of transcription | Nucleus | Zfx_Zfy; 12x ZnF_C2H2; |
ZNF81 | NS | N | Zinc finger protein 81 | Putative repressor of transcription | Nucleus | KRAB; 12x ZnF_C2H2; |