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
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
	kidney; ; Body of pancreas; ; islet of Langerhans; ; pancreas; ; renal cortex; ; heart; ; brain; ; lung;
	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

Last updated March 06, 2022

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].

Related Research Articles

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Beta-crystallin A3 is a protein that in humans is encoded by the CRYBA1 gene.

Sodium- and chloride-dependent creatine transporter 1 is a protein that in humans is encoded by the SLC6A8 gene.

Monocarboxylate transporter 5 is a protein that in humans is encoded by the SLC16A4 gene.

Collagen alpha-2(VIII) chain is a protein that in humans is encoded by the COL8A2 gene. Mutations of the gene are linked to posterior polymorphous dystrophy type 2.

Gap junction alpha-8 protein is a protein that in humans is encoded by the GJA8 gene. It is also known as connexin 50.

Monocarboxylate transporter 8 (MCT8) is an active transporter protein that in humans is encoded by the SLC16A2 gene.

Sodium bicarbonate transporter-like protein 11 is a protein that in humans is encoded by the SLC4A11 gene.

Y+L amino acid transporter 1 is a protein that in humans is encoded by the SLC7A7 gene.

Zinc transporter 4 is a protein that in humans is encoded by the SLC30A4 gene.

Cytochrome P450 4V2 is a protein that in humans is encoded by the CYP4V2 gene.

Monocarboxylate transporter 4 (MCT4) also known as solute carrier family 16 member 3 is a protein that in humans is encoded by the SLC16A3 gene.

Sodium-coupled monocarboxylate transporter 1 is a protein that in humans is encoded by the SLC5A8 gene.

Monocarboxylate transporter 1 is a ubiquitous protein that in humans is encoded by the SLC16A1 gene. It is a proton coupled monocarboxylate transporter.

Monocarboxylate transporter 10, also known as aromatic amino acid transporter 1 and T-type amino acid transporter 1 (TAT1) and solute carrier family 16 member 10 (SLC16A10), is a protein that in humans is encoded by the SLC16A10 gene. SLC16A10 is a member of the solute carrier family.

Monocarboxylate transporter 9 is a protein that in humans is encoded by the SLC16A9 gene.

Monocarboxylate transporter 3 (MCT3) also known as solute carrier family 16 member 8 is a protein that in humans is encoded by the SLC16A8 gene. MCT is a proton-coupled monocarboxylate transporter. It catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate. It also functions as high-affinity pyruvate transporter.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000152779 - Ensembl, May 2017
1 2 3 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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000152779 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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

Contents

Function

Related Research Articles

References

Further reading