| SMYD4 | |||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | SMYD4 , ZMYND21, SET and MYND domain containing 4 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 2442796 HomoloGene: 35098 GeneCards: SMYD4 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
SET and MYND domain-containing protein 4 is a protein that in humans is encoded by the SMYD4 gene. [5] [6]
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | Normal |
| Body weight | Normal |
| Anxiety | Normal |
| Neurological assessment | Normal |
| Grip strength | Normal |
| Hot plate | Normal |
| Dysmorphology | Normal |
| Indirect calorimetry | Normal |
| Glucose tolerance test | Normal |
| Auditory brainstem response | Normal |
| DEXA | Normal |
| Radiography | Normal |
| Body temperature | Normal |
| Eye morphology | Normal |
| Clinical chemistry | Normal |
| Plasma immunoglobulins | Normal |
| Haematology | Normal |
| Peripheral blood lymphocytes | Normal |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Tail epidermis wholemount | Normal |
| Skin Histopathology | Normal |
| Brain histopathology | Normal |
| Eye Histopathology | Normal |
| Salmonella infection | Normal [7] |
| Citrobacter infection | Normal [8] |
| All tests and analysis from [9] [10] |
Model organisms have been used in the study of SMYD4 function. A conditional knockout mouse line, called Smyd4tm1a(EUCOMM)Wtsi [11] [12] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute. [13] [14] [15]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. [9] [16] Twenty six tests were carried out on homozygous mutant adult mice, however no significant abnormalities were observed. [9]
Protein kinase C-binding protein 1 is an enzyme that in humans is encoded by the ZMYND8 gene.
SET and MYND (myeloid-Nervy-DEAF-1) domain-containing protein 3 is a protein that in humans is encoded by the SMYD3 gene.
Shugoshin 2(Shugoshin-2), also known as Shugoshin-like 2, is a protein which in humans is encoded by the SGO2 gene.
WW domain-binding protein 2 is a protein that in humans is encoded by the WBP2 gene.
Spermine synthase is an enzyme that in humans is encoded by the SMS gene. The protein encoded by this gene belongs to the spermidine/spermine synthases family. This gene encodes a ubiquitous enzyme of polyamine metabolism.
Interferon-induced transmembrane protein 3 (IFITM3) is a protein that in humans is encoded by the IFITM3 gene. It plays a critical role in the immune system's defense against Swine Flu, where heightened levels of IFITM3 keep viral levels low, and the removal of IFITM3 allows the virus to multiply unchecked. This observation has been further advanced by a recent study from Paul Kellam's lab that shows that a single nucleotide polymorphism in the human IFITM3 gene purported to increase influenza susceptibility is overrepresented in people hospitalised with pandemic H1N1. The prevalence of this mutation is thought to be approximately 1/400 in European populations.
Vacuolar-sorting protein SNF8 is a protein that in humans is encoded by the SNF8 gene.
Cytochrome b561 is a protein that in humans is encoded by the CYB561 gene.
Inositol polyphosphate 1-phosphatase is an enzyme that, in humans, is encoded by the INPP1 gene. INPP1 encodes the enzyme inositol polyphosphate-1-phosphatase, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 1 of the inositol ring from the polyphosphates inositol 1,4-bisphosphate and inositol 1,3,4-trisphophosphate.
TBC1 domain family member 10A is a protein that in humans is encoded by the TBC1D10A gene.
N-terminal EF-hand calcium-binding protein 2 is a protein that in humans is encoded by the NECAB2 gene.
SLC35F6 is a protein that in humans is encoded by the SLC35F6 gene. The orthologue in mice is 4930471M23Rik.
1-acyl-sn-glycerol-3-phosphate acyltransferase gamma is an enzyme that in humans is encoded by the AGPAT3 gene. The protein encoded by this gene is an acyltransferase that converts lysophosphatidic acid into phosphatidic acid, which is the second step in the de novo phospholipid biosynthetic pathway. The encoded protein may be an integral membrane protein. Two transcript variants encoding the same protein have been found for this gene.
Pseudouridylate synthase 7 homolog-like protein is an enzyme that in humans is encoded by the PUS7L gene.
RNA polymerase-associated protein CTR9 homolog is an enzyme that in humans is encoded by the CTR9 gene.
Deoxyribonuclease-1-like 2 is an enzyme that in humans is encoded by the DNASE1L2 gene.
Ninein-like protein is a protein that in humans is encoded by the NINL gene. It is part of the centrosome.
Microsomal glutathione S-transferase 3 is an enzyme that in humans is encoded by the MGST3 gene.
Ubiquinone biosynthesis protein COQ9, mitochondrial, also known as coenzyme Q9 homolog (COQ9), is a protein that in humans is encoded by the COQ9 gene.
Coiled-coil domain-containing protein 57 is a protein that in humans is encoded by the CCDC57 gene.
 | This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it. |
