SLC16A12

Protein identityUniProt · HPA

UniProt accession

Q6ZSM3

Gene

SLC16A12

Ensembl

ENSG00000152779

Chromosome

10

Canonical length

516 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

516 residues, UniProt reviewed canonical sequence.

>Q6ZSM3|SLC16A12
     1  MPSGSHWTAN SSKIITWLLE QPGKEEKRKT MAKVNRARST SPPDGGWGWM IVAGCFLVTI
    61  CTRAVTRCIS IFFVEFQTYF TQDYAQTAWI HSIVDCVTML CAPLGSVVSN HLSCQVGIML
   121  GGLLASTGLI LSSFATSLKH LYLTLGVLTG LGFALCYSPA IAMVGKYFSR RKALAYGIAM
   181  SGSGIGTFIL APVVQLLIEQ FSWRGALLIL GGFVLNLCVC GALMRPITLK EDHTTPEQNH
   241  VCRTQKEDIK RVSPYSSLTK EWAQTCLCCC LQQEYSFLLM SDFVVLAVSV LFMAYGCSPL
   301  FVYLVPYALS VGVSHQQAAF LMSILGVIDI IGNITFGWLT DRRCLKNYQY VCYLFAVGMD
   361  GLCYLCLPML QSLPLLVPFS CTFGYFDGAY VTLIPVVTTE IVGTTSLSSA LGVVYFLHAV
   421  PYLVSPPIAG RLVDTTGSYT AAFLLCGFSM IFSSVLLGFA RLIKRMRKTQ LQFIAKESDP
   481  KLQLWTNGSV AYSVARELDQ KHGEPVATAV PGYSLT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC16A12 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

12

Mean surface accessibility (rSASA)

0.29

Highest tissue expression

79 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC16A12.

Disease | AllUniProt

Conditions SLC16A12 is implicated in, by any mechanism.

• Cataract 47 (CTRCT47) MIM:612018

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 146 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Juvenile cataract-microcornea-renal glucosuria syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.48

gnomAD pLI

0.49

gnomAD missense Z

0.95

DepMap mean gene effect

-0.11

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 0% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• creatine transmembrane transport
• creatinine metabolic process
• transport across blood-brain barrier

Molecular functions

• creatine transmembrane transporter activity
• transmembrane transporter activity
• uniporter activity

Cellular components

• basolateral plasma membrane
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Major facilitator superfamily
• Major facilitator superfamily domain
• MFS transporter superfamily
• Proton-linked Monocarboxylate Transporter
• Major Facilitator Superfamily

KeywordsUniProt

• Cataract
• Cell membrane
• Membrane
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of SLC16A12 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• BSG