Seroatlas · Human Serome Atlas

SLC34A3

Sodium-dependent phosphate transport protein 2C

Also known as: FLJ38680, NPT2C_HUMAN, NPTIIc

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8N130
Gene: SLC34A3
Ensembl: ENSG00000198569
Chromosome: 9
Canonical length: 599 aa
Protein class: Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5' UTR have been found for this gene.[provided by RefSeq, Apr 2010]

Canonical amino-acid sequenceUniProt

599 residues, UniProt reviewed canonical sequence.

>Q8N130|SLC34A3
     1  MPSSLPGSQV PHPTLDAVDL VEKTLRNEGT SSSAPVLEEG DTDPWTLPQL KDTSQPWKEL
    61  RVAGRLRRVA GSVLKACGLL GSLYFFICSL DVLSSAFQLL GSKVAGDIFK DNVVLSNPVA
   121  GLVIGVLVTA LVQSSSTSSS IVVSMVAAKL LTVRVSVPII MGVNVGTSIT STLVSMAQSG
   181  DRDEFQRAFS GSAVHGIFNW LTVLVLLPLE SATALLERLS ELALGAASLT PRAQAPDILK
   241  VLTKPLTHLI VQLDSDMIMS SATGNATNSS LIKHWCGTTG QPTQENSSCG AFGPCTEKNS
   301  TAPADRLPCR HLFAGTELTD LAVGCILLAG SLLVLCGCLV LIVKLLNSVL RGRVAQVVRT
   361  VINADFPFPL GWLGGYLAVL AGAGLTFALQ SSSVFTAAVV PLMGVGVISL DRAYPLLLGS
   421  NIGTTTTALL AALASPADRM LSALQVALIH FFFNLAGILL WYLVPALRLP IPLARHFGVV
   481  TARYRWVAGV YLLLGFLLLP LAAFGLSLAG GMELAAVGGP LVGLVLLVIL VTVLQRRRPA
   541  WLPVRLRSWA WLPVWLHSLE PWDRLVTRCC PCNVCSPPKA TTKEAYCYEN PEILASQQL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC34A3 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: 8
Mean surface accessibility (rSASA): 0.35
Highest tissue expression: 14 nTPM

Expression across tissuesHPA

Tissue

kidney: 14 nTPM
small intestine: 9.1 nTPM
esophagus: 3.1 nTPM
salivary gland: 1.5 nTPM
pituitary gland: 1.2 nTPM
gallbladder: 0.5 nTPM

Single-cell type

enterocytes: 80 nCPM
proximal tubule cells: 24 nCPM
esophageal apical cells: 15 nCPM
esophageal suprabasal cells: 5.6 nCPM
paneth cells: 3.9 nCPM
suprabasal keratinocytes: 3 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

midbrain: 11 nTPM
cerebral cortex: 9.9 nTPM
medulla oblongata: 9.7 nTPM
white matter: 8.3 nTPM
spinal cord: 7.5 nTPM
thalamus: 6.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC34A3.

Disease | AllUniProt

Conditions SLC34A3 is implicated in, by any mechanism.

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) MIM:241530

Disease | GeneticClinVar

95 pathogenic / likely-pathogenic of 878 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive hypophosphatemic bone disease
SLC34A3-related disorder
Inborn genetic diseases
Hypophosphataemia or rickets
Hypercalciuria

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): 1.37
gnomAD pLI: 0
gnomAD missense Z: -1.29
DepMap mean gene effect: -0.06
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

Molecular functions

sodium:phosphate symporter activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC34A3 as an antibody target. Whether an autoantibody or antibody against SLC34A3 could matter depends on whether native SLC34A3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC34A3 is annotated at the cell surface, where native SLC34A3 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label SLC34A3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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