SLC16A2

Protein identityUniProt · HPA

UniProt accession

P36021

Gene

SLC16A2

Ensembl

ENSG00000147100

Chromosome

X

Canonical length

539 aa

Protein class

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

Subcellular location

Plasma membrane

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene encodes an integral membrane protein that functions as a transporter of thyroid hormone. The encoded protein facilitates the cellular importation of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine (T2). This gene is expressed in many tissues and likely plays an important role in the development of the central nervous system. Loss of function mutations in this gene are associated with psychomotor retardation in males while females exhibit no neurological defects and more moderate thyroid-deficient phenotypes. This gene is subject to X-chromosome inactivation. Mutations in this gene are the cause of Allan-Herndon-Dudley syndrome. [provided by RefSeq, Mar 2012]

Canonical amino-acid sequenceUniProt

539 residues, UniProt reviewed canonical sequence.

>P36021|SLC16A2
     1  MALQSQASEE AKGPWQEADQ EQQEPVGSPE PESEPEPEPE PEPVPVPPPE PQPEPQPLPD
    61  PAPLPELEFE SERVHEPEPT PTVETRGTAR GFQPPEGGFG WVVVFAATWC NGSIFGIHNS
   121  VGILYSMLLE EEKEKNRQVE FQAAWVGALA MGMIFFCSPI VSIFTDRLGC RITATAGAAV
   181  AFIGLHTSSF TSSLSLRYFT YGILFGCGCS FAFQPSLVIL GHYFQRRLGL ANGVVSAGSS
   241  IFSMSFPFLI RMLGDKIKLA QTFQVLSTFM FVLMLLSLTY RPLLPSSQDT PSKRGVRTLH
   301  QRFLAQLRKY FNMRVFRQRT YRIWAFGIAA AALGYFVPYV HLMKYVEEEF SEIKETWVLL
   361  VCIGATSGLG RLVSGHISDS IPGLKKIYLQ VLSFLLLGLM SMMIPLCRDF GGLIVVCLFL
   421  GLCDGFFITI MAPIAFELVG PMQASQAIGY LLGMMALPMI AGPPIAGLLR NCFGDYHVAF
   481  YFAGVPPIIG AVILFFVPLM HQRMFKKEQR DSSKDKMLAP DPDPNGELLP GSPNPEEPI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC16A2 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)

0.35

Highest tissue expression

38 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC16A2.

Disease | AllUniProt

Conditions SLC16A2 is implicated in, by any mechanism.

• Monocarboxylate transporter 8 deficiency (MCT8 deficiency) MIM:300523

Disease | GeneticClinVar

113 pathogenic / likely-pathogenic of 486 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Allan-Herndon-Dudley syndrome
• Spastic paraplegia
• Inborn genetic diseases
• SLC16A2-related disorder
• Intellectual disability

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)

0.22

gnomAD pLI

0.99

gnomAD missense Z

2.38

DepMap mean gene effect

0

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• amino acid import across plasma membrane
• amino acid metabolic process
• monocarboxylic acid transport
• negative regulation of neural precursor cell proliferation
• thyroid hormone generation
• thyroid hormone metabolic process
• thyroid hormone transport
• thyroid-stimulating hormone secretion
• transport across blood-brain barrier

Molecular functions

• amino acid transmembrane transporter activity
• identical protein binding
• monocarboxylic acid transmembrane transporter activity
• thyroid hormone transmembrane transporter activity

Cellular components

• apical 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

• Acetylation
• Cell membrane
• Membrane
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of SLC16A2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• FAM234A