Solute carrier family 16 member 12

SLC16A12

Identifiers

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)^[1]

Band	10q23.31	Start	89,430,299 bp^[1]
Band	10q23.31	End	89,556,641 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 19 (mouse)^[2]

Band	19\|19 C1	Start	34,645,803 bp^[2]
Band	19\|19 C1	End	34,724,689 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

body of pancreas

kidney

islet of Langerhans

placenta

tibial nerve

left ventricle

right lung

left lobe of thyroid gland

right lobe of thyroid gland

sural nerve

Top expressed in

kidney

ciliary body

atrium

islet of Langerhans

lacrimal gland

iris

liver

cornea

left lung lobe

proximal tubule

More reference expression data

BioGPS

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

Species

Human

Mouse

Entrez


387700


240638

Ensembl


ENSG00000152779


ENSMUSG00000009378

UniProt


Q6ZSM3


Q8BGC3

RefSeq (mRNA)


NM_213606


NM_172838

RefSeq (protein)


NP_998771


NP_766426

Location (UCSC)

Chr 10: 89.43 – 89.56 Mb

Chr 19: 34.65 – 34.72 Mb

PubMed search

^[3]

^[4]

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.

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This page was last edited on 6 March 2022, at 00:52

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Function

References

Further reading