Table 2 Genes located at the duplicated region of 2p11.2
Gene symbol | Gene name | Encoded protein | Function | Related disease | Remark |
|---|---|---|---|---|---|
TCF7L1 | Transcription factor 7-like 1 (T-cell specific, HMG-box) | Transcription factor 7-like 1 (a member of T cell factor/lymphoid enhancer factor family of transcription factors) | Mediation of Wnt signaling pathway, regulation of cell cycle genes and cellular senescence | None | Homozygous mutant mice exhibit severe embryological defects particularly affecting the cardiovascular system, nervous system, and digestive system. |
Not affected by our duplication based on qRT-PCR result. | |||||
TGOLN2 | Trans-golgi network protein 2 | Trans-Golgi network integral membrane protein 2 precursor | Exocytic vesicle formation | None | No knock-out mice. A 7.8Â kb deletion involving all 4 exons within the gene was reported in a normal control person. |
RETSAT | Retinol saturase | All-trans-retinol 13,14-reductase precursor | All-trans-retinol 13,14-reductase activity, oxidoreductase activity | None | No knock-out mice. |
ELMOD3 | ELMO/CED-12 domain containing 3 | ELMO domain-containing protein 3, isoform a, b, | Phagocytosis and cell migration | Deafness, autosomal recessive 88 (OMIM 615429) | No knock-out mice. |
CAPG | Capping protein (actin filament), gelsolin-like | Macrophage-capping protein | Control of actin-based motility in non-muscle cells | None | Inactivation of this loci results in impaired immune cell motility which manifests in homozygous mutant mice as increased susceptibility to some bacterial infections. |
SH2D6 | SH2 domain containing 6 | SH2 domain-containing protein 6 | Unknown | None | No knock-out mice. |
LOC100630918 | Uncharacterized non-coding RNA | non-coding RNA | Unknown | None | No knock-out mice. |
MAT2A | Methionine adenosyltransferase II, alpha | S-adenosylmethionine synthase | Production of S-adenosylmethionine from methionine and ATP | None | No knock-out mice. A 28Â kb duplication containing this gene and GGCX was reported in a normal control person. |
GGCX | Gamma-glutamyl carboxylase | Vitamin K-dependent gamma-carboxylase | Posttranslational modification of vitamin K-dependent protein | Autosomal recessive pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (OMIM 610842) | Only 50% of expected Ggcx(-/-) mice survive to term but the latter animals die uniformly at birth of massive intra-abdominal hemorrhage. A 28Â kb duplication containing this gene and TAT2A was reported in a normal control person. |
Autosomal recessive vitamin K-dependent coagulation defect (OMIM 277450) | |||||
VAMP8 | Vesicle-associated membrane protein 8 | Vesicle-associated membrane protein 8 | Fusion of synaptic vesicles with the presynaptic membrane | None | Homozygous knock-out mice exhibit background-sensitive postnatal lethality, hydronephrosis, and reduced amylase secretion, type I hypersensitivity reaction, and platelet activation. |
VAMP5 | Vesicle-associated membrane protein 5 | Vesicle-associated membrane protein 5 | Docking and/or fusion of vesicles and cell membranes | None | No knock-out mice. |
RNF181 | Ring finger protein 181 | E3 ubiquitin-protein ligase RNF181 | E3 ubiquitin ligase activity | None | No knock-out mice. A 36Â kb deletion encompassing the whole gene was reported in a normal control person. |
TMEM150A | Transmembrane protein 150A | Transmembrane protein 150A precursor | Unknown | None | No knock-out mice. |
C2orf68 | Chromosome 2 open reading frame 68 | UPF0561 protein C2orf68 | Unknown | None | No knock-out mice. |
USP39 | Ubiquitin specific peptidase 39 | U4/U6.U5 tri-snRNP-associated protein 2 | Ubiquitin thiolesterase activity, zinc ion binding | None | No knock-out mice. |
A 12 kb deletion encompassing exons 4–6 and a 5.6 kb deletion encompassing exons 7–9 was reported in normal control persons. | |||||
Not affected by our duplication based on qRT-PCR result. |