SLC35F6

SLC35F6
Identifiers
Aliases	SLC35F6 , ANT2BP, C2orf18, TANGO9, solute carrier family 35 member F6
External IDs	MGI: 1922169 HomoloGene: 9896 GeneCards: SLC35F6
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2p23.3 Start 26,764,284 bp [1] End 26,781,231 bp [1]
Gene location (Mouse) Chr. Chromosome 5 (mouse) [2] Band 5|5 B1 Start 30,805,277 bp [2] End 30,817,073 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in nipple pericardium superior surface of tongue saphenous vein body of tongue vena cava cavity of mouth cardia vulva pylorus Top expressed in interventricular septum yolk sac lip Epithelium of stomach myocardium of ventricle spermatocyte superior frontal gyrus right ventricle visual cortex proximal tubule More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding transmembrane transporter activity Cellular component integral component of membrane lysosomal membrane lysosome extracellular exosome membrane mitochondrion nucleoplasm cytosol intracellular membrane-bounded organelle Biological process negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway positive regulation of cell population proliferation transport transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54978 74919 Ensembl ENSG00000213699 ENSMUSG00000029175 UniProt Q8N357 Q8VE96 RefSeq (mRNA) NM_017877 NM_175675 RefSeq (protein) NP_060347 NP_783606 Location (UCSC) Chr 2: 26.76 – 26.78 Mb Chr 5: 30.81 – 30.82 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

SLC35F6 is a protein that in humans is encoded by the SLC35F6 gene. ^{[5] [6]} The orthologue in mice is 4930471M23Rik. ^[6]

Model organisms

4930471M23Rik knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Normal
Fertility	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
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	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 C2orf18 function. A conditional knockout mouse line, called 4930471M23Rik^{tm1a(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 two tests were carried out on mutant mice, but no significant abnormalities were observed. ^[9]

References

1. GRCh38: Ensembl release 89: ENSG00000213699 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000029175 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A (Oct 2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC   403697 . PMID   12975309.
6. "Entrez Gene: C2orf18 chromosome 2 open reading frame 18".
7. "Salmonella infection data for 4930471M23Rik". Wellcome Trust Sanger Institute.
8. "Citrobacter infection data for 4930471M23Rik". Wellcome Trust Sanger Institute.
9. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x. S2CID   85911512.
10. Mouse Resources Portal, Wellcome Trust Sanger Institute.
11. "International Knockout Mouse Consortium".
12. "Mouse Genome Informatics".
13. Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC   3572410 . PMID   21677750.
14. Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi: 10.1038/474262a . PMID   21677718.
15. Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi: 10.1016/j.cell.2006.12.018 . PMID   17218247. S2CID   18872015.
16. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC   3218837 . PMID   21722353.

External links

• Human SLC35F6 genome location and SLC35F6 gene details page in the UCSC Genome Browser .

Further reading

• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. Bibcode:2005Natur.434..724H. doi: 10.1038/nature03466 . PMID   15815621.
• Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl: 11858/00-001M-0000-0010-8592-0 . PMID   16169070. S2CID   8235923.
• Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi: 10.1093/dnares/12.2.117 . PMID   16303743.