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This gene encodes a member of the type II sodium-phosphate cotransporter family. Mutations in this gene are associated with hypophosphatemia nephrolithiasis/osteoporosis 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009] See more...
Aliases for SLC34A1 Gene
Aliases for SLC34A1 Gene
- Solute Carrier Family 34 Member 1 2 3 4 5
- Solute Carrier Family 34 (Type II Sodium/Phosphate Cotransporter), Member 1 2 3
- Solute Carrier Family 17 (Sodium Phosphate), Member 2 2 3
- Solute Carrier Family 34 (Sodium Phosphate), Member 1 2 3
- Sodium-Dependent Phosphate Transport Protein 2A 3 4
- Na(+)-Dependent Phosphate Cotransporter 2A 3 4
- Sodium-Phosphate Transport Protein 2A 3 4
- Na+-Phosphate Cotransporter Type II 2 3
- Sodium/Phosphate Cotransporter 2A 3 4
- Sodium/Phosphate Co-Transporter 2 3
- Na(+)/Pi Cotransporter 2A 3 4
External Ids for SLC34A1 Gene
- HGNC: 11019
- Entrez Gene: 6569
- Ensembl: ENSG00000131183
- OMIM: 182309
- UniProtKB: Q06495
Previous HGNC Symbols for SLC34A1 Gene
- NPT2
- SLC17A2
Previous GeneCards Identifiers for SLC34A1 Gene
- GC05P177184
- GC05P177653
- GC05P176747
- GC05P176792
- GC05P176744
- GC05P176812
- GC05P171732
Summaries for SLC34A1 Gene
-
This gene encodes a member of the type II sodium-phosphate cotransporter family. Mutations in this gene are associated with hypophosphatemia nephrolithiasis/osteoporosis 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
GeneCards Summary for SLC34A1 Gene
SLC34A1 (Solute Carrier Family 34 Member 1) is a Protein Coding gene. Diseases associated with SLC34A1 include Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 and Hypercalcemia, Infantile, 2. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Parathyroid hormone synthesis, secretion and action. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and PDZ domain binding. An important paralog of this gene is SLC34A2.
UniProtKB/Swiss-Prot Summary for SLC34A1 Gene
-
Involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 70-80% of the apical influx.
Additional gene information for SLC34A1 Gene
- Monarch Initiative
- Search for SLC34A1 at DataMed
- Search for SLC34A1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC34A1 Gene
Genomics for SLC34A1 Gene
GeneHancer (GH) Regulatory Elements for SLC34A1 Gene
Promoters and enhancers for SLC34A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SLC34A1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the SLC34A1 gene promoter:
-
- AP-1
- c-Fos
- c-Jun
- FosB
- Fra-1
- JunB
- JunD
- p53
- STAT5A
- YY1
Genomic Locations for SLC34A1 Gene
Genomic Locations for SLC34A1 Gene
- chr5:177,379,235-177,398,848
- (GRCh38/hg38)
- Size:
- 19,614 bases
- Orientation:
- Plus strand
- chr5:176,806,236-176,825,849
- (GRCh37/hg19)
- Size:
- 19,614 bases
- Orientation:
- Plus strand
Genomic View for SLC34A1 Gene
Genes around SLC34A1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q35.3 by HGNC
- 5q35.3 by Entrez Gene
- 5q35.3 by Ensembl
SLC34A1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SLC34A1 Gene
Proteins for SLC34A1 Gene
-
Protein details for SLC34A1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q06495-NPT2A_HUMAN
- Recommended name:
- Sodium-dependent phosphate transport protein 2A
- Protein Accession:
- Q06495
- B4DPE3
Protein attributes for SLC34A1 Gene
- Size:
- 639 amino acids
- Molecular mass:
- 68937 Da
- Quaternary structure:
-
- Interacts via its C-terminal region with PDZK2 (By similarity). Interacts with SLC9A3R1 (PubMed:22506049).
Protein Expression for SLC34A1 Gene
Post-translational modifications for SLC34A1 Gene
Other Protein References for SLC34A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Atlas Antibodies Anti-SLC34A1 Antibody
- Creative Diagnostics Anti-SLC34A1 monoclonal antibody and Anti-SLC34A1 (aa 15-97) polyclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for SLC34A1
- Novus Biologicals Antibodies for SLC34A1
- Invitrogen Antibodies for SLC34A1 (AFLGC-SLC34A1)
Protein Products
- Atlas Antibodies PrEST Antigen SLC34A1
-
OriGene Purified Proteins for SLC34A1
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC34A1
- Origene Custom Protein Services for SLC34A1
- antibodies-online: Show 7 available SLC34A1 Proteins ranked by validation data
- Compare Top SLC34A1 Proteins
-
Quality Products:
No data available for DME Specific Peptides for SLC34A1 Gene
Domains & Families for SLC34A1 Gene
Gene Families for SLC34A1 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
- Transporters
Protein Domains for SLC34A1 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SLC34A1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ60763, highly similar to Sodium-dependent phosphate transport protein 2A (B4DPE3_HUMAN)
- Solute carrier family 34 member 1 (NPT2A_HUMAN)
- Solute carrier family 34 (Sodium phosphate), member 1, isoform CRA_c (Q05BP0_HUMAN)
- Na+-phosphate cotransporter type II (Q6LCI0_HUMAN)
- Na+-phosphate cotransporter type II (Q6LCI1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q06495- Family:
-
- Belongs to the SLC34A transporter family.
Function for SLC34A1 Gene
Molecular function for SLC34A1 Gene
- UniProtKB/Swiss-Prot Function:
- Involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 70-80% of the apical influx.
- GENATLAS Biochemistry:
- solute carrier family 34 (sodium/phosphate cotransport) member 1,expressed in kidney
Phenotypes From GWAS Catalog for SLC34A1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005436 | sodium:phosphate symporter activity | IBA | 21873635 |
| GO:0005515 | protein binding | IPI | 17895247 |
| GO:0015293 | symporter activity | IEA | -- |
| GO:0015321 | sodium-dependent phosphate transmembrane transporter activity | IMP,IBA | 26047794 |
| GO:0030165 | PDZ domain binding | IEA | -- |
Phenotypes for SLC34A1 Gene
- MGI mutant phenotypes for SLC34A1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for SLC34A1:
-
- Decreased viability ratio
- Dynamic nuclei (hole, folded or small irregular)
- Reduced mammosphere formation
- Increased shRNA abundance (Z-score > 2)
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Decreased shRNA abundance (Z-score < -2)
- shRNA abundance <= 50%
Animal Models for SLC34A1 Gene
- MGI Knock Outs for SLC34A1:
-
- Slc34a1 Slc34a1<tm1Hten>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
-
OriGene CRISPR knockouts for SLC34A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC34A1
- genomics-online: gRNA clones - Search results for available SLC34A1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for SLC34A1 - Select products 50% OFF >
- * SLC34A1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * SLC34A1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC34A1
miRNA for SLC34A1 Gene
- miRTarBase miRNAs that target SLC34A1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for SLC34A1
- Browse OriGene Inhibitory RNA Products For SLC34A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC34A1
- genomics-online: shRNA clones - Search results for available SLC34A1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for SLC34A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC34A1
- genomics-online: cdna clones - Search results for available SLC34A1 gene related products
- orf clones - Search results for available SLC34A1 gene related products
- Applied Biological Materials (abm): Clones for SLC34A1 - Select products 50% OFF >
- * SLC34A1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * SLC34A1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for SLC34A1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC34A1 Gene
Localization for SLC34A1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SLC34A1 Gene
- Apical cell membrane; Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 4 |
| nucleus | 4 |
| endosome | 3 |
| extracellular | 1 |
| lysosome | 1 |
- Plasma membrane (3)
- Mitotic spindle (2)
- Nuclear speckles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005768 | endosome | IEA | -- |
| GO:0005886 | plasma membrane | TAS,IBA | -- |
| GO:0005887 | integral component of plasma membrane | NAS | 8327470 |
| GO:0005903 | brush border | IBA | 21873635 |
| GO:0009986 | cell surface | IEA | -- |
Pathways & Interactions for SLC34A1 Gene
Pathways by source for SLC34A1 Gene
7 Reactome pathways for SLC34A1 Gene
1 KEGG pathway for SLC34A1 Gene
Interacting Proteins for SLC34A1 Gene
GPS-Prot Interaction Network for SLC34A1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001503 | ossification | IEA | -- |
| GO:0001822 | kidney development | IEA | -- |
| GO:0006811 | ion transport | IEA | -- |
| GO:0006814 | sodium ion transport | IEA | -- |
| GO:0006817 | phosphate ion transport | IDA | 8327470 |
No data available for SIGNOR curated interactions for SLC34A1 Gene
Drugs & Compounds for SLC34A1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Calcium Phosphate | Approved | Pharma | Transporter, substrate | 0 | ||
| Calcium phosphate dihydrate | Approved | Pharma | Transporter | 0 | ||
| Sodium phosphate, dibasic | Approved | Pharma | Transporter | 0 | ||
| Sodium phosphate, monobasic | Approved | Pharma | Transporter, substrate | 0 | ||
| Sodium phosphate, monobasic, unspecified form | Approved | Pharma | Transporter | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
- Atlas Antibodies PrEST Antigen SLC34A1
Transcripts for SLC34A1 Gene
mRNA/cDNA for SLC34A1 Gene
- (2) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (28) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000324417 2583 bps (ENST00000324417.5)
- ENST00000504577 532 bps (ENST00000504577.5)
- ENST00000507685 1938 bps (ENST00000507685.5)
- ENST00000512593 1912 bps (ENST00000512593.5)
- ENST00000513614 2916 bps (ENST00000513614.1)
CRISPR Products
-
OriGene CRISPR knockouts for SLC34A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC34A1
- genomics-online: gRNA clones - Search results for available SLC34A1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for SLC34A1 - Select products 50% OFF >
- * SLC34A1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * SLC34A1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC34A1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for SLC34A1
- Browse OriGene Inhibitory RNA Products For SLC34A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC34A1
- genomics-online: shRNA clones - Search results for available SLC34A1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for SLC34A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC34A1
- genomics-online: cdna clones - Search results for available SLC34A1 gene related products
- orf clones - Search results for available SLC34A1 gene related products
- Applied Biological Materials (abm): Clones for SLC34A1 - Select products 50% OFF >
- * SLC34A1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * SLC34A1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Expression for SLC34A1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- Loop of Henle Cells Loop of Henle
- Loop of Henle
- Metanephros
- Bone (Muscoskeletal System)
-
Epithelial Cells
- Loop of Henle Cells Loop of Henle
- Eye (Sensory Organs)
mRNA differential expression in normal tissues according to GTEx for SLC34A1 Gene
This gene is overexpressed in Kidney - Cortex (x51.1).
This gene is overexpressed in Brain (38.2) and Urine (30.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC34A1 Gene
NURSA nuclear receptor signaling pathways regulating expression of SLC34A1 Gene:
SLC34A1SOURCE GeneReport for Unigene cluster for SLC34A1 Gene:
Hs.936mRNA Expression by UniProt/SwissProt for SLC34A1 Gene:
Q06495-NPT2A_HUMAN
Tissue specificity:
Kidney and lung.
Evidence on tissue expression from TISSUES for SLC34A1 Gene
- Kidney(4.8)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC34A1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- ear
- head
- jaw
- mandible
- maxilla
- mouth
- neck
- skull
- tooth
Thorax:
- chest wall
- clavicle
- diaphragm
- heart
- rib
- rib cage
- scapula
- sternum
Abdomen:
- duodenum
- intestine
- kidney
- large intestine
- pancreas
- small intestine
- stomach
Pelvis:
- pelvis
- rectum
- ureter
- urinary bladder
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- coagulation system
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- spinal column
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for SLC34A1
-
OriGene qPCR primer pairs and template standards for SLC34A1
- genomics-online: primer clones - Search results for available SLC34A1 gene related products
Gene Expression Assay Products
Orthologs for SLC34A1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SLC34A1 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | SLC34A1 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | SLC34A1 33 32 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Slc34a1 32 |
|
||
| mouse (Mus musculus) |
Mammalia | Slc34a1 17 33 32 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SLC34A1 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | SLC34A1 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SLC34A1 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | SLC34A1 33 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | slc34a1a 33 32 |
|
OneToMany | |
| slc34a1b 33 |
|
OneToMany | |||
| slc34a2b 32 |
|
||||
| worm (Caenorhabditis elegans) |
Secernentea | ZK563.2 33 34 32 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
ManyToMany | |
| -- 33 |
|
ManyToMany | |||
| -- 33 |
|
ManyToMany | |||
| -- 33 |
|
ManyToMany |
- Species where no ortholog for SLC34A1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
Evolution for SLC34A1 Gene
- ENSEMBL:
- Gene Tree for SLC34A1 (if available)
- TreeFam:
- Gene Tree for SLC34A1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SLC34A1: view image
Paralogs for SLC34A1 Gene
Variants for SLC34A1 Gene
| SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs115119084 | likely-benign, Hereditary Angioedema, Factor XII deficiency disease, Hypophosphatemic Nephrolithiasis/Osteoporosis | 177,403,526(+) | G/A | genic_downstream_transcript_variant, intron_variant | |
| rs118204454 | pathogenic, FACTOR XII (LOCARNO) | 177,403,994(+) | C/G/T | genic_downstream_transcript_variant, intron_variant | |
| rs118204455 | pathogenic, uncertain-significance, FACTOR XII (TENRI), Factor XII deficiency disease | 177,406,019(+) | T/C | genic_downstream_transcript_variant, intron_variant | |
| rs118204456 | pathogenic, Hereditary angioneurotic edema with normal C1 esterase inhibitor activity, Angioedema, Hyperbilirubinemia, Hypertension, Urticaria, Hereditary angioneurotic edema, not provided, Factor XII deficiency disease | 177,404,231(+) | G/C/T | genic_downstream_transcript_variant, intron_variant | |
| rs121918610 | pathogenic, Nephrolithiasis/osteoporosis, hypophosphatemic, 1, Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1) [MIM:612286] | 177,386,019(+) | GC/TT | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv10184n54 | CNV | loss | 21841781 |
| dgv10185n54 | CNV | loss | 21841781 |
| dgv373e215 | CNV | deletion | 23714750 |
| dgv733n27 | CNV | loss | 19166990 |
| esv1007597 | CNV | deletion | 20482838 |
| esv2675618 | CNV | deletion | 23128226 |
| esv2731189 | CNV | deletion | 23290073 |
| esv2731190 | CNV | deletion | 23290073 |
| esv4214 | CNV | loss | 18987735 |
| nsv1074891 | CNV | deletion | 25765185 |
| nsv1148657 | CNV | deletion | 26484159 |
| nsv1161311 | CNV | duplication | 26073780 |
| nsv1161312 | CNV | deletion | 26073780 |
| nsv1161313 | CNV | duplication | 26073780 |
| nsv471057 | CNV | loss | 18288195 |
| nsv509103 | CNV | insertion | 20534489 |
| nsv600364 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
38.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.68;
57.18% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SLC34A1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC34A1 Gene
Disorders for SLC34A1 Gene
(24) MalaCards diseases for SLC34A1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| nephrolithiasis/osteoporosis, hypophosphatemic, 1 |
|
|
| hypercalcemia, infantile, 2 |
|
|
| fanconi renotubular syndrome 2 |
|
|
| dominant hypophosphatemia with nephrolithiasis or osteoporosis |
|
|
| idiopathic infantile hypercalcemia |
|
|
Search SLC34A1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
NPT2A_HUMAN- Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1) [MIM:612286]: A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis. {ECO:0000269 PubMed:12324554}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Fanconi renotubular syndrome 2 (FRTS2) [MIM:613388]: A disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. {ECO:0000269 PubMed:20335586}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Hypercalcemia, infantile, 2 (HCINF2) [MIM:616963]: An autosomal recessive form of hypercalcemia, a disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis. {ECO:0000269 PubMed:26047794}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SLC34A1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SLC34A1 Gene
Publications for SLC34A1 Gene
- Expression cloning of human and rat renal cortex Na/Pi cotransport. (PMID: 8327470) Magagnin S … Murer H (Proceedings of the National Academy of Sciences of the United States of America 1993) 2 3 4 23 56
- Structure of murine and human renal type II Na+-phosphate cotransporter genes (Npt2 and NPT2). (PMID: 8693007) Hartmann CM … Tenenhouse HS (Proceedings of the National Academy of Sciences of the United States of America 1996) 2 3 23 56
- Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia. (PMID: 26047794) Schlingmann KP … Konrad M (Journal of the American Society of Nephrology : JASN 2016) 3 4 56
- A new human NHERF1 mutation decreases renal phosphate transporter NPT2a expression by a PTH-independent mechanism. (PMID: 22506049) Courbebaisse M … Prié D (PloS one 2012) 3 4 56
- New loci associated with kidney function and chronic kidney disease. (PMID: 20383146) Köttgen A … Fox CS (Nature genetics 2010) 3 43 56
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Products for SLC34A1 Gene
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