Format

Send to:

Choose Destination

SLC34A3 solute carrier family 34 member 3 [ Homo sapiens (human) ]

Gene ID: 142680, updated on 29-Mar-2020

Summary

Official Symbol
SLC34A3provided by HGNC
Official Full Name
solute carrier family 34 member 3provided by HGNC
Primary source
HGNC:HGNC:20305
See related
Ensembl:ENSG00000198569 MIM:609826
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HHRH; NPTIIc
Summary
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]
Expression
Biased expression in kidney (RPKM 9.9) and small intestine (RPKM 2.9) See more
Orthologs

Genomic context

See SLC34A3 in Genome Data Viewer
Location:
9q34.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (137230757..137236555)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (140125209..140131006)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene cysteine rich tail 1 Neighboring gene ring finger protein 224 Neighboring gene tubulin beta 4B class IVb Neighboring gene family with sequence similarity 166 member A Neighboring gene STPG3 antisense RNA 1 Neighboring gene sperm-tail PG-rich repeat containing 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38680

Gene Ontology Provided by GOA

Function Evidence Code Pubs
sodium:phosphate symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium:phosphate symporter activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cellular phosphate ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular phosphate ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
phosphate ion transport IDA
Inferred from Direct Assay
more info
PubMed 
sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
sodium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
sodium-dependent phosphate transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
brush border IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
brush border membrane IEA
Inferred from Electronic Annotation
more info
 
cell IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
sodium-dependent phosphate transport protein 2C
Names
Na(+)-dependent phosphate cotransporter 2C
Na(+)/Pi cotransporter 2C
naPi-2c
sodium-phosphate transport protein 2C
sodium/inorganic phosphate cotransporter IIC
solute carrier family 34 (sodium phosphate), member 3
solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
type IIc Na+/Pi cotransporter

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_017008.2 RefSeqGene

    Range
    5001..10655
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001177316.2NP_001170787.2  sodium-dependent phosphate transport protein 2C

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript. Variants 1-3 encode the same protein.
    Source sequence(s)
    AB055000, BC029942, BX255925
    Consensus CDS
    CCDS7038.1
    Related
    ENSP00000501114.1, ENST00000673835.1
  2. NM_001177317.1NP_001170788.1  sodium-dependent phosphate transport protein 2C

    See identical proteins and their annotated locations for NP_001170788.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternative acceptor splice site at the second exon resulting in a 3 nt longer 5' UTR compared to variant 1. Variants 1-3 encode the same protein.
    Source sequence(s)
    AB055000, BC029942, BX255925
    Consensus CDS
    CCDS7038.1
    UniProtKB/Swiss-Prot
    Q8N130
    Related
    ENSP00000442397.1, ENST00000538474.5
    Conserved Domains (2) summary
    TIGR01013
    Location:80563
    2a58; Phosphate:Na+ Symporter (PNaS) Family
    pfam02690
    Location:85176
    Na_Pi_cotrans; Na+/Pi-cotransporter
  3. NM_080877.2NP_543153.1  sodium-dependent phosphate transport protein 2C

    See identical proteins and their annotated locations for NP_543153.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternative 5' non-coding exon resulting in a different 5' UTR compared to variant 1. Variants 1-3 encode the same protein.
    Source sequence(s)
    AB055000, AK095999
    Consensus CDS
    CCDS7038.1
    UniProtKB/Swiss-Prot
    Q8N130
    Related
    ENSP00000355353.2, ENST00000361134.2
    Conserved Domains (2) summary
    TIGR01013
    Location:80563
    2a58; Phosphate:Na+ Symporter (PNaS) Family
    pfam02690
    Location:85176
    Na_Pi_cotrans; Na+/Pi-cotransporter

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    137230757..137236555
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014290.1XP_016869779.1  sodium-dependent phosphate transport protein 2C isoform X1

    Conserved Domains (2) summary
    TIGR01013
    Location:80445
    2a58; Phosphate:Na+ Symporter (PNaS) Family
    pfam02690
    Location:85176
    Na_Pi_cotrans; Na+/Pi-cotransporter
  2. XM_011518260.1XP_011516562.1  sodium-dependent phosphate transport protein 2C isoform X1

    See identical proteins and their annotated locations for XP_011516562.1

    Conserved Domains (2) summary
    TIGR01013
    Location:80445
    2a58; Phosphate:Na+ Symporter (PNaS) Family
    pfam02690
    Location:85176
    Na_Pi_cotrans; Na+/Pi-cotransporter
  3. XM_011518258.1XP_011516560.1  sodium-dependent phosphate transport protein 2C isoform X1

    See identical proteins and their annotated locations for XP_011516560.1

    Conserved Domains (2) summary
    TIGR01013
    Location:80445
    2a58; Phosphate:Na+ Symporter (PNaS) Family
    pfam02690
    Location:85176
    Na_Pi_cotrans; Na+/Pi-cotransporter
  4. XM_011518259.1XP_011516561.1  sodium-dependent phosphate transport protein 2C isoform X1

    See identical proteins and their annotated locations for XP_011516561.1

    Conserved Domains (2) summary
    TIGR01013
    Location:80445
    2a58; Phosphate:Na+ Symporter (PNaS) Family
    pfam02690
    Location:85176
    Na_Pi_cotrans; Na+/Pi-cotransporter
  5. XM_011518261.2XP_011516563.1  sodium-dependent phosphate transport protein 2C isoform X1

    See identical proteins and their annotated locations for XP_011516563.1

    Conserved Domains (2) summary
    TIGR01013
    Location:80445
    2a58; Phosphate:Na+ Symporter (PNaS) Family
    pfam02690
    Location:85176
    Na_Pi_cotrans; Na+/Pi-cotransporter
  6. XM_017014292.1XP_016869781.1  sodium-dependent phosphate transport protein 2C isoform X3

    UniProtKB/Swiss-Prot
    Q8N130
    Conserved Domains (2) summary
    TIGR01013
    Location:80563
    2a58; Phosphate:Na+ Symporter (PNaS) Family
    pfam02690
    Location:85176
    Na_Pi_cotrans; Na+/Pi-cotransporter
  7. XM_017014291.1XP_016869780.1  sodium-dependent phosphate transport protein 2C isoform X2

    Conserved Domains (2) summary
    TIGR01013
    Location:80445
    2a58; Phosphate:Na+ Symporter (PNaS) Family
    pfam02690
    Location:85176
    Na_Pi_cotrans; Na+/Pi-cotransporter
  8. XM_011518257.2XP_011516559.1  sodium-dependent phosphate transport protein 2C isoform X1

    See identical proteins and their annotated locations for XP_011516559.1

    Conserved Domains (2) summary
    TIGR01013
    Location:80445
    2a58; Phosphate:Na+ Symporter (PNaS) Family
    pfam02690
    Location:85176
    Na_Pi_cotrans; Na+/Pi-cotransporter
Support Center