Solute carrier family 16 member 12

SLC16A12
Identifiers
Aliases	SLC16A12, CJMG, MCT12, CRT2, solute carrier family 16 member 12, CTRCT47
External IDs	OMIM: 611910; MGI: 2147716; HomoloGene: 130007; GeneCards: SLC16A12; OMA:SLC16A12 - orthologs
Gene location (Human)
Chr.	Chromosome 10 (human)
End	89,556,641 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	34,724,689 bp
RNA expression pattern
	Top expressed in
	body of pancreas; ; islet of Langerhans; ; placenta; ; tibial nerve; ; human kidney; ; testicle; ; apex of heart; ; left ventricle; ; right auricle; ; right lung;
	Top expressed in
	transitional epithelium of urinary bladder; ; epithelium of lens; ; Epithelium of choroid plexus; ; human kidney; ; ciliary body; ; atrium; ; islet of Langerhans; ; right kidney; ; lacrimal gland; ; iris;
	More reference expression data
	n/a
Gene ontology
Molecular function	creatine transmembrane transporter activity; symporter activity; monocarboxylic acid transmembrane transporter activity;
Cellular component	integral component of membrane; plasma membrane; integral component of plasma membrane; membrane;
Biological process	transmembrane transport; monocarboxylic acid transport; creatine transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	387700
	240638
	ENSG00000152779
	ENSMUSG00000009378
	Q6ZSM3
	Q8BGC3
	NM_213606
	NM_172838
	NP_998771
	NP_766426
	Wikidata
View/Edit Human	View/Edit Mouse

Solute carrier family 16 member 12 is a protein that in humans is encoded by the SLC16A12 gene. ^[5]

Function

This gene encodes a transmembrane transporter that likely plays a role in monocarboxylic acid transport. A mutation in this gene has been associated with juvenile cataracts with microcornea and renal glucosuria. [provided by RefSeq, Mar 2010].

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000152779 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000009378 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Solute carrier family 16 member 12". Retrieved 2018-10-06.

Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Wavrant-De Vrièze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J, Goate A (January 2006). "A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease". Am. J. Hum. Genet. 78 (1): 78–88. doi:10.1086/498851. PMC 1380225. PMID 16385451.
Kloeckener-Gruissem B, Vandekerckhove K, Nürnberg G, Neidhardt J, Zeitz C, Nürnberg P, Schipper I, Berger W (March 2008). "Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria". Am. J. Hum. Genet. 82 (3): 772–9. doi:10.1016/j.ajhg.2007.12.013. PMC 2427214. PMID 18304496.
Zuercher J, Neidhardt J, Magyar I, Labs S, Moore AT, Tanner FC, Waseem N, Schorderet DF, Munier FL, Bhattacharya S, Berger W, Kloeckener-Gruissem B (July 2010). "Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract". Invest. Ophthalmol. Vis. Sci. 51 (7): 3354–61. doi:10.1167/iovs.10-5193. PMC 2904002. PMID 20181839.
Zuercher J, Neidhardt J, Magyar I, Labs S, Moore AT, Tanner FC, Waseem N, Schorderet DF, Munier FL, Bhattacharya S, Berger W, Kloeckener-Gruissem B (July 2010). "Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract". Invest. Ophthalmol. Vis. Sci. 51 (7): 3354–61. doi:10.1167/iovs.10-5193. PMC 2904002. PMID 20181839.
Abplanalp J, Laczko E, Philp NJ, Neidhardt J, Zuercher J, Braun P, Schorderet DF, Munier FL, Verrey F, Berger W, Camargo SM, Kloeckener-Gruissem B (August 2013). "The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter". Hum. Mol. Genet. 22 (16): 3218–26. doi:10.1093/hmg/ddt175. PMC 3723308. PMID 23578822.
Dhayat N, Simonin A, Anderegg M, Pathare G, Lüscher BP, Deisl C, Albano G, Mordasini D, Hediger MA, Surbek DV, Vogt B, Sass JO, Kloeckener-Gruissem B, Fuster DG (May 2016). "Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria". J. Am. Soc. Nephrol. 27 (5): 1426–36. doi:10.1681/ASN.2015040411. PMC 4849831. PMID 26376857.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 10 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000152779 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000009378 – 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.

[entrez-5] "Entrez Gene: Solute carrier family 16 member 12". Retrieved 2018-10-06.

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Solute carrier family 16 member 12

Function

References

Further reading

Information related to Solute carrier family 16 member 12

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