SLC34A2 (solute carrier family 34 member 2) - Rat Genome Database

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Gene: SLC34A2 (solute carrier family 34 member 2) Homo sapiens
Analyze
Symbol: SLC34A2
Name: solute carrier family 34 member 2
RGD ID: 733113
HGNC Page HGNC:11020
Description: Enables phosphate ion binding activity; sodium ion binding activity; and sodium:phosphate symporter activity. Involved in intracellular phosphate ion homeostasis; phosphate ion transport; and response to estrogen. Located in apical plasma membrane. Implicated in pulmonary alveolar microlithiasis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ90534; NAPI-3B; NAPI-IIb; NaPi2b; NPTIIb; PULAM; sodium-dependent phosphate transport protein 2B; sodium/phosphate cotransporter 2B; solute carrier family 34 (sodium phosphate), member 2; solute carrier family 34 (type II sodium/phosphate cotransporter), member 2; type II sodium-dependent phosphate transporter 3b
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100423044  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38425,655,851 - 25,678,748 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl425,648,011 - 25,678,748 (+)EnsemblGRCh38hg38GRCh38
GRCh37425,657,473 - 25,680,370 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36425,266,533 - 25,289,468 (+)NCBINCBI36Build 36hg18NCBI36
Build 34425,333,741 - 25,354,773NCBI
Celera426,105,505 - 26,128,442 (+)NCBICelera
Cytogenetic Map4p15.2NCBI
HuRef424,995,885 - 25,018,820 (+)NCBIHuRef
CHM1_1425,657,246 - 25,680,195 (+)NCBICHM1_1
T2T-CHM13v2.0425,637,821 - 25,660,720 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acetamide  (ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
Azoxymethane  (ISO)
benzo[a]pyrene  (EXP)
beta-naphthoflavone  (ISO)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
buspirone  (ISO)
calcitriol  (EXP)
chlorohydrocarbon  (ISO)
clofibrate  (ISO)
cyclosporin A  (ISO)
dextran sulfate  (ISO)
dieldrin  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (ISO)
endosulfan  (ISO)
ethylparaben  (EXP)
fenofibrate  (ISO)
fentin chloride  (ISO)
flutamide  (ISO)
fonofos  (EXP)
formaldehyde  (EXP)
fructose  (ISO)
fulvestrant  (EXP)
furan  (ISO)
heptachlor  (ISO)
indole-3-methanol  (ISO)
iron atom  (ISO)
iron(0)  (ISO)
leflunomide  (ISO)
methotrexate  (EXP)
methylarsonic acid  (ISO)
methylmercury chloride  (ISO)
mirex  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
Muraglitazar  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nevirapine  (ISO)
nickel atom  (EXP)
nickel sulfate  (ISO)
nimesulide  (ISO)
nitrofen  (ISO)
oxycodone  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
parathion  (EXP)
perfluorooctanoic acid  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
pravastatin  (ISO)
propiconazole  (ISO)
prothioconazole  (EXP)
rotenone  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
tacrolimus hydrate  (ISO)
tamoxifen  (ISO)
terbufos  (EXP)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
triphenyl phosphate  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
trovafloxacin  (ISO)
tungstate  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
zaragozic acid A  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
apical plasma membrane  (IBA,IDA,IEA,ISO,ISS)
brush border  (IBA,IEA)
brush border membrane  (ISO,ISS)
membrane  (IDA,IEA,NAS)
microvillus membrane  (ISO)
plasma membrane  (IEA,NAS,TAS)
vesicle  (HDA,IBA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal blood phosphate concentration  (IAGP)
Abnormal circulating calcium concentration  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bronchiectasis  (IAGP)
Bronchitis  (IAGP)
Calcification of the aorta  (IAGP)
Calcium nephrolithiasis  (IAGP)
Chest pain  (IAGP)
Childhood onset  (IAGP)
Clubbing of fingers  (IAGP)
Cyanosis  (IAGP)
Decreased fertility  (IAGP)
Dyspnea  (IAGP)
Ectopic calcification  (IAGP)
Exertional dyspnea  (IAGP)
Fatigable weakness  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Gonadal calcification  (IAGP)
Ground-glass opacification  (IAGP)
Hematuria  (IAGP)
Hemoptysis  (IAGP)
Hepatomegaly  (IAGP)
Hypoxemia  (IAGP)
Increased circulating surfactant protein level  (IAGP)
Increased pulmonary vascular resistance  (IAGP)
Interlobular septal thickening  (IAGP)
Intraalveolar nodular calcifications  (IAGP)
Juvenile onset  (IAGP)
Mitral valve calcification  (IAGP)
Nonproductive cough  (IAGP)
Oxygen desaturation on exertion  (IAGP)
Peripheral edema  (IAGP)
Pleural thickening  (IAGP)
Pneumothorax  (IAGP)
Progressive pulmonary function impairment  (IAGP)
Pulmonary fibrosis  (IAGP)
Pulmonary infiltrates  (IAGP)
Respiratory failure  (IAGP)
Respiratory insufficiency  (IAGP)
Respiratory tract infection  (IAGP)
Restrictive ventilatory defect  (IAGP)
Right ventricular failure  (IAGP)
Slowly progressive  (IAGP)
Stippled calcification in carpal bones  (IAGP)
Subpleural interstitial thickening  (IAGP)
Tachypnea  (IAGP)
Testicular microlithiasis  (IAGP)
Weight loss  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. Phosphate handling: new genes, new molecules. Prie D, etal., Horm Res Paediatr. 2011;76 Suppl 1:71-5. doi: 10.1159/000329175. Epub 2011 Jul 21.
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8889548   PMID:10329428   PMID:10610722   PMID:11171583   PMID:11880379   PMID:12477932   PMID:12488042   PMID:12893629   PMID:14702039   PMID:15458926   PMID:15970207   PMID:16303743  
PMID:16344560   PMID:16960801   PMID:17091453   PMID:17095743   PMID:18724815   PMID:19119262   PMID:19134407   PMID:19190083   PMID:19617834   PMID:20017296   PMID:20046000   PMID:20457063  
PMID:21036732   PMID:21716206   PMID:21873635   PMID:21956469   PMID:22336687   PMID:22553815   PMID:23164546   PMID:23936189   PMID:25017204   PMID:25036637   PMID:26156586   PMID:26506223  
PMID:26546432   PMID:26846105   PMID:26910912   PMID:28151475   PMID:28281971   PMID:28381172   PMID:28464843   PMID:28514442   PMID:28720066   PMID:28777670   PMID:29178392   PMID:29653487  
PMID:30038060   PMID:30262706   PMID:30592329   PMID:30868061   PMID:31540980   PMID:31831582   PMID:32005974   PMID:32296183   PMID:33961781   PMID:34944522   PMID:35443721   PMID:37259144  
PMID:38720472  


Genomics

Comparative Map Data
SLC34A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38425,655,851 - 25,678,748 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl425,648,011 - 25,678,748 (+)EnsemblGRCh38hg38GRCh38
GRCh37425,657,473 - 25,680,370 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36425,266,533 - 25,289,468 (+)NCBINCBI36Build 36hg18NCBI36
Build 34425,333,741 - 25,354,773NCBI
Celera426,105,505 - 26,128,442 (+)NCBICelera
Cytogenetic Map4p15.2NCBI
HuRef424,995,885 - 25,018,820 (+)NCBIHuRef
CHM1_1425,657,246 - 25,680,195 (+)NCBICHM1_1
T2T-CHM13v2.0425,637,821 - 25,660,720 (+)NCBIT2T-CHM13v2.0
Slc34a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39553,206,695 - 53,229,006 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl553,195,423 - 53,229,006 (+)EnsemblGRCm39 Ensembl
GRCm38553,049,353 - 53,071,664 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl553,038,081 - 53,071,664 (+)EnsemblGRCm38mm10GRCm38
MGSCv37553,440,592 - 53,462,903 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36553,337,630 - 53,359,912 (+)NCBIMGSCv36mm8
Celera550,429,966 - 50,452,261 (+)NCBICelera
Cytogenetic Map5C1NCBI
cM Map528.92NCBI
Slc34a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81462,123,313 - 62,153,020 (-)NCBIGRCr8
mRatBN7.21457,910,931 - 57,930,236 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1457,910,480 - 57,930,436 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1462,312,729 - 62,331,995 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01463,631,450 - 63,650,714 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01460,028,211 - 60,047,475 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01460,257,211 - 60,276,516 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1460,256,712 - 60,276,794 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01460,375,980 - 60,395,841 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41462,660,006 - 62,679,311 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11462,661,945 - 62,674,066 (-)NCBI
Celera1457,011,613 - 57,030,915 (-)NCBICelera
Cytogenetic Map14q11NCBI
Slc34a2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544319,452,306 - 19,467,129 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544319,452,373 - 19,467,129 (-)NCBIChiLan1.0ChiLan1.0
SLC34A2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2325,904,193 - 25,927,027 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1426,099,982 - 26,122,819 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0420,056,254 - 20,079,012 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1425,336,538 - 25,359,381 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl425,336,538 - 25,359,381 (+)Ensemblpanpan1.1panPan2
SLC34A2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1384,686,505 - 84,717,579 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl384,686,425 - 84,742,038 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha387,197,404 - 87,228,556 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0385,655,124 - 85,686,281 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl385,655,645 - 85,714,088 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1384,777,180 - 84,808,314 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0384,897,108 - 84,928,226 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0385,280,888 - 85,312,032 (-)NCBIUU_Cfam_GSD_1.0
Slc34a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528550,252,670 - 50,273,639 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364773,956,061 - 3,966,392 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364773,954,377 - 3,975,259 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC34A2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl819,481,198 - 19,509,666 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1819,481,127 - 19,507,903 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2819,819,341 - 19,847,993 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC34A2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12724,674,419 - 24,698,844 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2724,674,584 - 24,690,984 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604771,188,809 - 71,212,116 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc34a2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247556,830,056 - 6,842,910 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247556,829,197 - 6,849,898 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC34A2
109 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000004.12:g.25655728_25655913del deletion PULMONARY ALVEOLAR MICROLITHIASIS [RCV000006068] Chr4:25655722..25655907 [GRCh38]
Chr4:25657344..25657529 [GRCh37]
Chr4:4p15.2		 pathogenic
NM_006424.3(SLC34A2):c.114del (p.Asp39fs) deletion PULMONARY ALVEOLAR MICROLITHIASIS [RCV000006069] Chr4:25662706 [GRCh38]
Chr4:25664328 [GRCh37]
Chr4:4p15.2		 pathogenic
NM_006424.3(SLC34A2):c.226C>T (p.Gln76Ter) single nucleotide variant PULMONARY ALVEOLAR MICROLITHIASIS [RCV000006070] Chr4:25662818 [GRCh38]
Chr4:25664440 [GRCh37]
Chr4:4p15.2		 pathogenic
NM_006424.3(SLC34A2):c.316G>C (p.Gly106Arg) single nucleotide variant PULMONARY ALVEOLAR MICROLITHIASIS [RCV000006071] Chr4:25664267 [GRCh38]
Chr4:25665889 [GRCh37]
Chr4:4p15.2		 pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p15.31-15.2(chr4:21056309-26732162)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053263]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053263]|See cases [RCV000053263] Chr4:21056309..26732162 [GRCh38]
Chr4:21057932..26733784 [GRCh37]
Chr4:20667030..26342882 [NCBI36]
Chr4:4p15.31-15.2		 pathogenic
NM_006424.2(SLC34A2):c.333C>T (p.Phe111=) single nucleotide variant Malignant melanoma [RCV000060974] Chr4:25664284 [GRCh38]
Chr4:25665906 [GRCh37]
Chr4:25275004 [NCBI36]
Chr4:4p15.2		 not provided
NM_006424.2(SLC34A2):c.1221C>T (p.Phe407=) single nucleotide variant Malignant melanoma [RCV000060975] Chr4:25674300 [GRCh38]
Chr4:25675922 [GRCh37]
Chr4:25285020 [NCBI36]
Chr4:4p15.2		 not provided
NM_006424.2(SLC34A2):c.1842C>T (p.Phe614=) single nucleotide variant Malignant melanoma [RCV000060976] Chr4:25676518 [GRCh38]
Chr4:25678140 [GRCh37]
Chr4:25287238 [NCBI36]
Chr4:4p15.2		 not provided
NM_006424.3(SLC34A2):c.1333+1G>A single nucleotide variant PULMONARY ALVEOLAR MICROLITHIASIS [RCV001332773] Chr4:25674413 [GRCh38]
Chr4:25676035 [GRCh37]
Chr4:4p15.2		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p15.2(chr4:23862000-27685546)x1 copy number loss See cases [RCV000135404] Chr4:23862000..27685546 [GRCh38]
Chr4:23863623..27687168 [GRCh37]
Chr4:23472721..27296266 [NCBI36]
Chr4:4p15.2		 pathogenic
GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1 copy number loss See cases [RCV000135806] Chr4:16925022..32113076 [GRCh38]
Chr4:16926645..32114698 [GRCh37]
Chr4:16535743..31758596 [NCBI36]
Chr4:4p15.32-15.1		 pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
NM_006424.3(SLC34A2):c.212_224del (p.Asn71fs) deletion PULMONARY ALVEOLAR MICROLITHIASIS [RCV000190366] Chr4:25662804..25662816 [GRCh38]
Chr4:25664426..25664438 [GRCh37]
Chr4:4p15.2		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p15.2-15.1(chr4:23458442-29252060)x1 copy number loss See cases [RCV000240221] Chr4:23458442..29252060 [GRCh37]
Chr4:4p15.2-15.1		 pathogenic
NM_006424.3(SLC34A2):c.113-2A>G single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001374511] Chr4:25662703 [GRCh38]
Chr4:25664325 [GRCh37]
Chr4:4p15.2		 likely pathogenic
NM_006424.3(SLC34A2):c.1634T>C (p.Phe545Ser) single nucleotide variant not provided [RCV002286924] Chr4:25676310 [GRCh38]
Chr4:25677932 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.233C>T (p.Ser78Leu) single nucleotide variant Inborn genetic diseases [RCV003267319] Chr4:25662825 [GRCh38]
Chr4:25664447 [GRCh37]
Chr4:4p15.2		 uncertain significance
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608)x1 copy number loss See cases [RCV000445756] Chr4:23790131..32302608 [GRCh37]
Chr4:4p15.2-15.1		 likely pathogenic
NM_006424.3(SLC34A2):c.552T>C (p.Ile184=) single nucleotide variant not provided [RCV002056703]|not specified [RCV000454850] Chr4:25667908 [GRCh38]
Chr4:25669530 [GRCh37]
Chr4:4p15.2		 benign
NM_006424.3(SLC34A2):c.1901A>G (p.Asp634Gly) single nucleotide variant PULMONARY ALVEOLAR MICROLITHIASIS [RCV001808831]|not provided [RCV002056704]|not specified [RCV000455319] Chr4:25676577 [GRCh38]
Chr4:25678199 [GRCh37]
Chr4:4p15.2		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
NM_006424.3(SLC34A2):c.290G>T (p.Gly97Val) single nucleotide variant Inborn genetic diseases [RCV003300441] Chr4:25664241 [GRCh38]
Chr4:25665863 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.682G>A (p.Val228Met) single nucleotide variant Inborn genetic diseases [RCV003265017] Chr4:25669693 [GRCh38]
Chr4:25671315 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.878C>T (p.Ala293Val) single nucleotide variant Inborn genetic diseases [RCV003262098] Chr4:25670784 [GRCh38]
Chr4:25672406 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.1108A>G (p.Ile370Val) single nucleotide variant Inborn genetic diseases [RCV003242805] Chr4:25673146 [GRCh38]
Chr4:25674768 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.1784T>C (p.Leu595Pro) single nucleotide variant Inborn genetic diseases [RCV003295599] Chr4:25676460 [GRCh38]
Chr4:25678082 [GRCh37]
Chr4:4p15.2		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 copy number loss not provided [RCV000682373] Chr4:4165334..33324781 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_006424.3(SLC34A2):c.54C>T (p.Leu18=) single nucleotide variant not provided [RCV000916001] Chr4:25662554 [GRCh38]
Chr4:25664176 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.1901= (p.Asp634=) variation not provided [RCV000949904] Chr4:25676577 [GRCh38]
Chr4:25678199 [GRCh37]
Chr4:4p15.2		 benign
NM_006424.3(SLC34A2):c.1683C>T (p.Pro561=) single nucleotide variant not provided [RCV000927762] Chr4:25676359 [GRCh38]
Chr4:25677981 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.251-5T>C single nucleotide variant not provided [RCV000972650] Chr4:25664197 [GRCh38]
Chr4:25665819 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.524-8T>C single nucleotide variant not provided [RCV000952895] Chr4:25667872 [GRCh38]
Chr4:25669494 [GRCh37]
Chr4:4p15.2		 benign
NM_006424.3(SLC34A2):c.516C>T (p.Ser172=) single nucleotide variant not provided [RCV000923516] Chr4:25666264 [GRCh38]
Chr4:25667886 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.699C>T (p.Pro233=) single nucleotide variant not provided [RCV000923023] Chr4:25669710 [GRCh38]
Chr4:25671332 [GRCh37]
Chr4:4p15.2		 benign
NM_006424.3(SLC34A2):c.1242G>C (p.Leu414Phe) single nucleotide variant SLC34A2-related disorder [RCV003962886]|not provided [RCV000971876] Chr4:25674321 [GRCh38]
Chr4:25675943 [GRCh37]
Chr4:4p15.2		 benign|likely benign
GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141) copy number loss not provided [RCV000767707] Chr4:12778849..27760141 [GRCh37]
Chr4:4p15.33-15.1		 pathogenic
NM_006424.3(SLC34A2):c.666C>T (p.Phe222=) single nucleotide variant not provided [RCV000960248] Chr4:25669677 [GRCh38]
Chr4:25671299 [GRCh37]
Chr4:4p15.2		 benign
GRCh37/hg19 4p15.2(chr4:25502056-25820822)x3 copy number gain not provided [RCV000846744] Chr4:25502056..25820822 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.134T>C (p.Val45Ala) single nucleotide variant not provided [RCV000962070] Chr4:25662726 [GRCh38]
Chr4:25664348 [GRCh37]
Chr4:4p15.2		 benign
GRCh37/hg19 4p15.2(chr4:25668462-25681490)x1 copy number loss not provided [RCV000847851] Chr4:25668462..25681490 [GRCh37]
Chr4:4p15.2		 pathogenic
GRCh37/hg19 4p15.2(chr4:25530863-25744874)x3 copy number gain not provided [RCV000847920] Chr4:25530863..25744874 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.42C>T (p.Pro14=) single nucleotide variant not provided [RCV000952894] Chr4:25662542 [GRCh38]
Chr4:25664164 [GRCh37]
Chr4:4p15.2		 benign
NM_006424.3(SLC34A2):c.1537C>G (p.Arg513Gly) single nucleotide variant not provided [RCV000909241] Chr4:25676213 [GRCh38]
Chr4:25677835 [GRCh37]
Chr4:4p15.2		 benign
NM_006424.3(SLC34A2):c.1333+9C>T single nucleotide variant not provided [RCV000931365] Chr4:25674421 [GRCh38]
Chr4:25676043 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.936T>G (p.Ile312Met) single nucleotide variant not provided [RCV000964959] Chr4:25671609 [GRCh38]
Chr4:25673231 [GRCh37]
Chr4:4p15.2		 benign
NM_006424.3(SLC34A2):c.841A>G (p.Lys281Glu) single nucleotide variant SLC34A2-related disorder [RCV003905963]|not provided [RCV000968936] Chr4:25670747 [GRCh38]
Chr4:25672369 [GRCh37]
Chr4:4p15.2		 benign|likely benign
GRCh37/hg19 4p15.2(chr4:25505734-25730786)x3 copy number gain not provided [RCV001005530] Chr4:25505734..25730786 [GRCh37]
Chr4:4p15.2		 likely benign|uncertain significance
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p15.31-15.1(chr4:20406475-29134345)x1 copy number loss not provided [RCV001005527] Chr4:20406475..29134345 [GRCh37]
Chr4:4p15.31-15.1		 pathogenic
NM_006424.3(SLC34A2):c.718T>G (p.Tyr240Asp) single nucleotide variant Inborn genetic diseases [RCV004683684] Chr4:25669729 [GRCh38]
Chr4:25671351 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.1216+30_1216+33del deletion PULMONARY ALVEOLAR MICROLITHIASIS [RCV001807822] Chr4:25673284..25673287 [GRCh38]
Chr4:25674906..25674909 [GRCh37]
Chr4:4p15.2		 benign
NM_006424.3(SLC34A2):c.1216+35_1216+36insAGGGA insertion PULMONARY ALVEOLAR MICROLITHIASIS [RCV001807823] Chr4:25673289..25673290 [GRCh38]
Chr4:25674911..25674912 [GRCh37]
Chr4:4p15.2		 benign
NM_006424.3(SLC34A2):c.1458+2T>C single nucleotide variant PULMONARY ALVEOLAR MICROLITHIASIS [RCV001335423] Chr4:25674631 [GRCh38]
Chr4:25676253 [GRCh37]
Chr4:4p15.2		 pathogenic
NM_006424.3(SLC34A2):c.1244C>G (p.Thr415Ser) single nucleotide variant PULMONARY ALVEOLAR MICROLITHIASIS [RCV001335422] Chr4:25674323 [GRCh38]
Chr4:25675945 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.460A>G (p.Thr154Ala) single nucleotide variant PULMONARY ALVEOLAR MICROLITHIASIS [RCV001354342]|not provided [RCV004692624] Chr4:25666208 [GRCh38]
Chr4:25667830 [GRCh37]
Chr4:4p15.2		 uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
NM_006424.3(SLC34A2):c.927+1G>C single nucleotide variant PULMONARY ALVEOLAR MICROLITHIASIS [RCV004760311] Chr4:25670834 [GRCh38]
Chr4:25672456 [GRCh37]
Chr4:4p15.2		 likely pathogenic
NM_006424.3(SLC34A2):c.1216+37A>G single nucleotide variant PULMONARY ALVEOLAR MICROLITHIASIS [RCV001807824]|not provided [RCV004716843] Chr4:25673291 [GRCh38]
Chr4:25674913 [GRCh37]
Chr4:4p15.2		 benign
NM_006424.3(SLC34A2):c.939C>T (p.Asn313=) single nucleotide variant not provided [RCV004809277] Chr4:25671612 [GRCh38]
Chr4:25673234 [GRCh37]
Chr4:4p15.2		 likely benign
GRCh37/hg19 4p15.31-14(chr4:19892850-37325128) copy number loss not specified [RCV002053409] Chr4:19892850..37325128 [GRCh37]
Chr4:4p15.31-14		 pathogenic
NM_006424.3(SLC34A2):c.164C>G (p.Ser55Cys) single nucleotide variant Inborn genetic diseases [RCV003247108]|not provided [RCV001893245] Chr4:25662756 [GRCh38]
Chr4:25664378 [GRCh37]
Chr4:4p15.2		 uncertain significance
GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608) copy number loss not specified [RCV002053411] Chr4:23790131..32302608 [GRCh37]
Chr4:4p15.2-15.1		 likely pathogenic
NM_006424.3(SLC34A2):c.361G>A (p.Ala121Thr) single nucleotide variant Inborn genetic diseases [RCV002563438]|not provided [RCV001981506] Chr4:25664312 [GRCh38]
Chr4:25665934 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.1492G>A (p.Gly498Ser) single nucleotide variant not provided [RCV001919719] Chr4:25676168 [GRCh38]
Chr4:25677790 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.1700T>A (p.Ile567Asn) single nucleotide variant not provided [RCV001955043] Chr4:25676376 [GRCh38]
Chr4:25677998 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.853C>T (p.Gln285Ter) single nucleotide variant not provided [RCV001877095] Chr4:25670759 [GRCh38]
Chr4:25672381 [GRCh37]
Chr4:4p15.2		 pathogenic
NM_006424.3(SLC34A2):c.1493G>A (p.Gly498Asp) single nucleotide variant not provided [RCV001977624] Chr4:25676169 [GRCh38]
Chr4:25677791 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.379+15G>C single nucleotide variant not provided [RCV002124896] Chr4:25664345 [GRCh38]
Chr4:25665967 [GRCh37]
Chr4:4p15.2		 benign
NM_006424.3(SLC34A2):c.989C>T (p.Thr330Met) single nucleotide variant not provided [RCV002127338] Chr4:25671662 [GRCh38]
Chr4:25673284 [GRCh37]
Chr4:4p15.2		 benign
NM_006424.3(SLC34A2):c.112+10G>A single nucleotide variant not provided [RCV002132464] Chr4:25662622 [GRCh38]
Chr4:25664244 [GRCh37]
Chr4:4p15.2		 benign
NM_006424.3(SLC34A2):c.1334-4C>G single nucleotide variant not provided [RCV002166406] Chr4:25674501 [GRCh38]
Chr4:25676123 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.974C>T (p.Pro325Leu) single nucleotide variant not provided [RCV002101575] Chr4:25671647 [GRCh38]
Chr4:25673269 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.1317C>A (p.Ala439=) single nucleotide variant not provided [RCV002139859] Chr4:25674396 [GRCh38]
Chr4:25676018 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.447C>T (p.Ile149=) single nucleotide variant not provided [RCV002184822] Chr4:25666195 [GRCh38]
Chr4:25667817 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.832-20C>T single nucleotide variant not provided [RCV002216557] Chr4:25670718 [GRCh38]
Chr4:25672340 [GRCh37]
Chr4:4p15.2		 benign
NM_006424.3(SLC34A2):c.1089T>C (p.Ala363=) single nucleotide variant SLC34A2-related disorder [RCV003923448]|not provided [RCV002156777] Chr4:25673127 [GRCh38]
Chr4:25674749 [GRCh37]
Chr4:4p15.2		 benign
NM_006424.3(SLC34A2):c.818del (p.Lys273fs) deletion not provided [RCV003115143] Chr4:25669827 [GRCh38]
Chr4:25671449 [GRCh37]
Chr4:4p15.2		 pathogenic
NM_006424.3(SLC34A2):c.600G>A (p.Ala200=) single nucleotide variant not provided [RCV003121931] Chr4:25667956 [GRCh38]
Chr4:25669578 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.508A>G (p.Met170Val) single nucleotide variant Inborn genetic diseases [RCV004683683] Chr4:25666256 [GRCh38]
Chr4:25667878 [GRCh37]
Chr4:4p15.2		 uncertain significance
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_006424.3(SLC34A2):c.1207A>G (p.Ile403Val) single nucleotide variant not provided [RCV002293861] Chr4:25673245 [GRCh38]
Chr4:25674867 [GRCh37]
Chr4:4p15.2		 uncertain significance
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p15.2(chr4:25543033-25769971)x3 copy number gain not provided [RCV002473745] Chr4:25543033..25769971 [GRCh37]
Chr4:4p15.2		 uncertain significance
GRCh37/hg19 4p15.2(chr4:25625270-25977109)x1 copy number loss not provided [RCV002472469] Chr4:25625270..25977109 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.1750C>A (p.Pro584Thr) single nucleotide variant Inborn genetic diseases [RCV002682737] Chr4:25676426 [GRCh38]
Chr4:25678048 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.451G>A (p.Val151Met) single nucleotide variant Inborn genetic diseases [RCV002905418] Chr4:25666199 [GRCh38]
Chr4:25667821 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.250+9G>T single nucleotide variant not provided [RCV002881824] Chr4:25662851 [GRCh38]
Chr4:25664473 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.1310C>T (p.Thr437Met) single nucleotide variant Inborn genetic diseases [RCV002728529] Chr4:25674389 [GRCh38]
Chr4:25676011 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.99A>G (p.Lys33=) single nucleotide variant SLC34A2-related disorder [RCV003926472]|not provided [RCV002908247] Chr4:25662599 [GRCh38]
Chr4:25664221 [GRCh37]
Chr4:4p15.2		 benign
NM_006424.3(SLC34A2):c.1981G>T (p.Ala661Ser) single nucleotide variant not provided [RCV002904210] Chr4:25676657 [GRCh38]
Chr4:25678279 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.635+5G>A single nucleotide variant not provided [RCV002907707] Chr4:25667996 [GRCh38]
Chr4:25669618 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.1374G>A (p.Thr458=) single nucleotide variant SLC34A2-related disorder [RCV003943521]|not provided [RCV002907904] Chr4:25674545 [GRCh38]
Chr4:25676167 [GRCh37]
Chr4:4p15.2		 benign|likely benign
NM_006424.3(SLC34A2):c.636-10C>A single nucleotide variant not provided [RCV002570252] Chr4:25669637 [GRCh38]
Chr4:25671259 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.1311G>A (p.Thr437=) single nucleotide variant not provided [RCV002928049] Chr4:25674390 [GRCh38]
Chr4:25676012 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.2055C>G (p.Thr685=) single nucleotide variant not provided [RCV002999299] Chr4:25676731 [GRCh38]
Chr4:25678353 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.1459-12C>T single nucleotide variant not provided [RCV002867755] Chr4:25676123 [GRCh38]
Chr4:25677745 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.64G>A (p.Ala22Thr) single nucleotide variant not provided [RCV002885132] Chr4:25662564 [GRCh38]
Chr4:25664186 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.234G>A (p.Ser78=) single nucleotide variant not provided [RCV002780926] Chr4:25662826 [GRCh38]
Chr4:25664448 [GRCh37]
Chr4:4p15.2		 benign
NM_006424.3(SLC34A2):c.131C>G (p.Pro44Arg) single nucleotide variant Inborn genetic diseases [RCV002788585] Chr4:25662723 [GRCh38]
Chr4:25664345 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.1574A>C (p.Tyr525Ser) single nucleotide variant not provided [RCV003022972] Chr4:25676250 [GRCh38]
Chr4:25677872 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.944C>T (p.Thr315Ile) single nucleotide variant Inborn genetic diseases [RCV002830817] Chr4:25671617 [GRCh38]
Chr4:25673239 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.1111C>A (p.Leu371Ile) single nucleotide variant Inborn genetic diseases [RCV002743130] Chr4:25673149 [GRCh38]
Chr4:25674771 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.1049G>A (p.Cys350Tyr) single nucleotide variant Inborn genetic diseases [RCV002788187] Chr4:25673087 [GRCh38]
Chr4:25674709 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.636-18G>C single nucleotide variant not provided [RCV002765791] Chr4:25669629 [GRCh38]
Chr4:25671251 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.2060G>C (p.Cys687Ser) single nucleotide variant Inborn genetic diseases [RCV002664620] Chr4:25676736 [GRCh38]
Chr4:25678358 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.1185C>T (p.Val395=) single nucleotide variant not provided [RCV002643725] Chr4:25673223 [GRCh38]
Chr4:25674845 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.541G>T (p.Ala181Ser) single nucleotide variant Inborn genetic diseases [RCV002921287] Chr4:25667897 [GRCh38]
Chr4:25669519 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.1781C>T (p.Pro594Leu) single nucleotide variant not provided [RCV002577185] Chr4:25676457 [GRCh38]
Chr4:25678079 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.700G>A (p.Val234Met) single nucleotide variant not provided [RCV002988704] Chr4:25669711 [GRCh38]
Chr4:25671333 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.1961G>A (p.Gly654Glu) single nucleotide variant not provided [RCV002857518] Chr4:25676637 [GRCh38]
Chr4:25678259 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.789T>G (p.Leu263=) single nucleotide variant not provided [RCV002599193] Chr4:25669800 [GRCh38]
Chr4:25671422 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.1491C>T (p.Ser497=) single nucleotide variant not provided [RCV002603258] Chr4:25676167 [GRCh38]
Chr4:25677789 [GRCh37]
Chr4:4p15.2		 likely benign
GRCh38/hg38 4p15.33-14(chr4:11399082-38137335) copy number loss 4p partial monosomy syndrome [RCV003155905] Chr4:11399082..38137335 [GRCh38]
Chr4:4p15.33-14		 pathogenic
NM_006424.3(SLC34A2):c.29C>A (p.Ala10Asp) single nucleotide variant Inborn genetic diseases [RCV003216869] Chr4:25662529 [GRCh38]
Chr4:25664151 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.743T>C (p.Ile248Thr) single nucleotide variant Inborn genetic diseases [RCV003198979] Chr4:25669754 [GRCh38]
Chr4:25671376 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.1874G>A (p.Cys625Tyr) single nucleotide variant Inborn genetic diseases [RCV003180702] Chr4:25676550 [GRCh38]
Chr4:25678172 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.964T>C (p.Cys322Arg) single nucleotide variant Inborn genetic diseases [RCV003185014] Chr4:25671637 [GRCh38]
Chr4:25673259 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.130C>T (p.Pro44Ser) single nucleotide variant Inborn genetic diseases [RCV003189601] Chr4:25662722 [GRCh38]
Chr4:25664344 [GRCh37]
Chr4:4p15.2		 uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) copy number gain 4p16.3 microduplication syndrome [RCV003319592] Chr4:68345..34512694 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
NM_006424.3(SLC34A2):c.463G>A (p.Val155Ile) single nucleotide variant Inborn genetic diseases [RCV003305201] Chr4:25666211 [GRCh38]
Chr4:25667833 [GRCh37]
Chr4:4p15.2		 uncertain significance
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 copy number gain Neurodevelopmental disorder [RCV003327612] Chr4:2904667..42963232 [GRCh38]
Chr4:4p16.3-13		 pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11		 pathogenic
NM_006424.3(SLC34A2):c.296G>C (p.Gly99Ala) single nucleotide variant Inborn genetic diseases [RCV003361382] Chr4:25664247 [GRCh38]
Chr4:25665869 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.314T>C (p.Leu105Pro) single nucleotide variant Inborn genetic diseases [RCV003377429] Chr4:25664265 [GRCh38]
Chr4:25665887 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.1374G>T (p.Thr458=) single nucleotide variant not provided [RCV003439278] Chr4:25674545 [GRCh38]
Chr4:25676167 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.1314G>A (p.Ser438=) single nucleotide variant not provided [RCV003578402] Chr4:25674393 [GRCh38]
Chr4:25676015 [GRCh37]
Chr4:4p15.2		 benign
NM_006424.3(SLC34A2):c.1238G>A (p.Trp413Ter) single nucleotide variant not provided [RCV003827631] Chr4:25674317 [GRCh38]
Chr4:25675939 [GRCh37]
Chr4:4p15.2		 pathogenic
NM_006424.3(SLC34A2):c.636-19C>T single nucleotide variant not provided [RCV003815883] Chr4:25669628 [GRCh38]
Chr4:25671250 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.1216+17C>T single nucleotide variant not provided [RCV003672980] Chr4:25673271 [GRCh38]
Chr4:25674893 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.1884G>C (p.Ala628=) single nucleotide variant SLC34A2-related disorder [RCV003901297]|not provided [RCV003724340] Chr4:25676560 [GRCh38]
Chr4:25678182 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.1518G>A (p.Pro506=) single nucleotide variant not provided [RCV003554260] Chr4:25676194 [GRCh38]
Chr4:25677816 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.1287C>T (p.Ile429=) single nucleotide variant not provided [RCV003730626] Chr4:25674366 [GRCh38]
Chr4:25675988 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.1644G>A (p.Ser548=) single nucleotide variant SLC34A2-related disorder [RCV003907149] Chr4:25676320 [GRCh38]
Chr4:25677942 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.1451C>A (p.Ser484Ter) single nucleotide variant not provided [RCV004442863] Chr4:25674622 [GRCh38]
Chr4:25676244 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.1342_1361del (p.Val448fs) deletion PULMONARY ALVEOLAR MICROLITHIASIS [RCV003989368] Chr4:25674510..25674529 [GRCh38]
Chr4:25676132..25676151 [GRCh37]
Chr4:4p15.2		 likely pathogenic
NM_006424.3(SLC34A2):c.1878_1879insGGCGCGTGCTGC (p.Cys626_Arg627insGlyAlaCysCys) insertion PULMONARY ALVEOLAR MICROLITHIASIS [RCV004555470] Chr4:25676547..25676548 [GRCh38]
Chr4:25678169..25678170 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.1267G>A (p.Gly423Arg) single nucleotide variant SLC34A2-related disorder [RCV003959864] Chr4:25674346 [GRCh38]
Chr4:25675968 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.198G>C (p.Val66=) single nucleotide variant SLC34A2-related disorder [RCV003949475] Chr4:25662790 [GRCh38]
Chr4:25664412 [GRCh37]
Chr4:4p15.2		 likely benign
NM_006424.3(SLC34A2):c.146A>T (p.Glu49Val) single nucleotide variant Inborn genetic diseases [RCV004459181] Chr4:25662738 [GRCh38]
Chr4:25664360 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.61G>A (p.Ala21Thr) single nucleotide variant Inborn genetic diseases [RCV004459182] Chr4:25662561 [GRCh38]
Chr4:25664183 [GRCh37]
Chr4:4p15.2		 uncertain significance
NC_000004.11:g.(?_25125553)_(26492222_?)dup duplication not provided [RCV004580842] Chr4:25125553..26492222 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.2017G>C (p.Glu673Gln) single nucleotide variant Inborn genetic diseases [RCV004672562] Chr4:25676693 [GRCh38]
Chr4:25678315 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.395A>T (p.Gln132Leu) single nucleotide variant Inborn genetic diseases [RCV004672561] Chr4:25666143 [GRCh38]
Chr4:25667765 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.544A>C (p.Ile182Leu) single nucleotide variant Inborn genetic diseases [RCV004672560] Chr4:25667900 [GRCh38]
Chr4:25669522 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.500T>A (p.Val167Asp) single nucleotide variant Inborn genetic diseases [RCV004672559] Chr4:25666248 [GRCh38]
Chr4:25667870 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_006424.3(SLC34A2):c.251-5T>G single nucleotide variant SLC34A2-related disorder [RCV004757768] Chr4:25664197 [GRCh38]
Chr4:25665819 [GRCh37]
Chr4:4p15.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2395
Count of miRNA genes:887
Interacting mature miRNAs:1069
Transcripts:ENST00000382051, ENST00000503434, ENST00000504570, ENST00000507530, ENST00000510033, ENST00000513204
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D4S1384  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37425,662,845 - 25,662,996UniSTSGRCh37
Build 36425,271,943 - 25,272,094RGDNCBI36
Celera426,110,915 - 26,111,066RGD
Cytogenetic Map4p15.2UniSTS
HuRef425,001,295 - 25,001,446UniSTS
G15986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37425,678,114 - 25,678,296UniSTSGRCh37
Build 36425,287,212 - 25,287,394RGDNCBI36
Celera426,126,185 - 26,126,367RGD
Cytogenetic Map4p15.2UniSTS
HuRef425,016,565 - 25,016,747UniSTS
SLC34A2_7976  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37425,677,891 - 25,678,690UniSTSGRCh37
Build 36425,286,989 - 25,287,788RGDNCBI36
Celera426,125,962 - 26,126,762RGD
HuRef425,016,342 - 25,017,142UniSTS
A001V25  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371230,417,679 - 230,417,815UniSTSGRCh37
GRCh37425,661,249 - 25,662,851UniSTSGRCh37
Build 361228,484,302 - 228,484,438RGDNCBI36
Celera426,109,319 - 26,110,921UniSTS
Celera1203,683,410 - 203,683,546RGD
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map1q41-q42UniSTS
HuRef1200,906,034 - 200,906,170UniSTS
HuRef424,999,699 - 25,001,301UniSTS
GeneMap99-GB4 RH Map1735.17UniSTS
NCBI RH Map12027.8UniSTS
SHGC-51145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37425,662,856 - 25,663,008UniSTSGRCh37
Build 36425,271,954 - 25,272,106RGDNCBI36
Celera426,110,926 - 26,111,078RGD
Cytogenetic Map4p15.2UniSTS
HuRef425,001,306 - 25,001,458UniSTS
TNG Radiation Hybrid Map415894.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1117 2172 2523 1931 4645 1627 2190 4 577 1378 418 2111 5950 5351 24 3535 1 753 1641 1512 165 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001177998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001177999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC092436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF111856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF146796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH011306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA435368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN479082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB201517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB241180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000382051   ⟹   ENSP00000371483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl425,655,851 - 25,678,748 (+)Ensembl
Ensembl Acc Id: ENST00000503434   ⟹   ENSP00000423021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl425,656,464 - 25,676,749 (+)Ensembl
Ensembl Acc Id: ENST00000504570   ⟹   ENSP00000425501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl425,655,822 - 25,676,769 (+)Ensembl
Ensembl Acc Id: ENST00000507530   ⟹   ENSP00000424266
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl425,656,469 - 25,666,231 (+)Ensembl
Ensembl Acc Id: ENST00000510033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl425,664,894 - 25,669,693 (+)Ensembl
Ensembl Acc Id: ENST00000513204   ⟹   ENSP00000423038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl425,655,301 - 25,666,240 (+)Ensembl
Ensembl Acc Id: ENST00000645788   ⟹   ENSP00000494094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl425,648,011 - 25,676,769 (+)Ensembl
RefSeq Acc Id: NM_001177998   ⟹   NP_001171469
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38425,655,851 - 25,678,748 (+)NCBI
GRCh37425,656,853 - 25,680,735 (+)NCBI
HuRef424,995,885 - 25,018,820 (+)ENTREZGENE
CHM1_1425,657,246 - 25,680,195 (+)NCBI
T2T-CHM13v2.0425,637,821 - 25,660,720 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001177999   ⟹   NP_001171470
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38425,656,464 - 25,678,748 (+)NCBI
GRCh37425,656,853 - 25,680,735 (+)NCBI
HuRef424,995,885 - 25,018,820 (+)ENTREZGENE
CHM1_1425,657,897 - 25,680,195 (+)NCBI
T2T-CHM13v2.0425,638,434 - 25,660,720 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006424   ⟹   NP_006415
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38425,655,851 - 25,678,748 (+)NCBI
GRCh37425,656,853 - 25,680,735 (+)NCBI
Build 36425,266,533 - 25,289,468 (+)NCBI Archive
HuRef424,995,885 - 25,018,820 (+)ENTREZGENE
CHM1_1425,657,246 - 25,680,195 (+)NCBI
T2T-CHM13v2.0425,637,821 - 25,660,720 (+)NCBI
Sequence:
RefSeq Acc Id: NP_006415   ⟸   NM_006424
- Peptide Label: isoform a
- UniProtKB: Q8WYA9 (UniProtKB/Swiss-Prot),   Q8N2K2 (UniProtKB/Swiss-Prot),   O95436 (UniProtKB/Swiss-Prot),   A5PL17 (UniProtKB/Swiss-Prot),   Q9P0V7 (UniProtKB/Swiss-Prot),   A0A0B5E3E9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171469   ⟸   NM_001177998
- Peptide Label: isoform b
- UniProtKB: A8K9G0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171470   ⟸   NM_001177999
- Peptide Label: isoform b
- UniProtKB: A8K9G0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000423021   ⟸   ENST00000503434
Ensembl Acc Id: ENSP00000425501   ⟸   ENST00000504570
Ensembl Acc Id: ENSP00000424266   ⟸   ENST00000507530
Ensembl Acc Id: ENSP00000494094   ⟸   ENST00000645788
Ensembl Acc Id: ENSP00000423038   ⟸   ENST00000513204
Ensembl Acc Id: ENSP00000371483   ⟸   ENST00000382051

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95436-F1-model_v2 AlphaFold O95436 1-690 view protein structure

Promoters
RGD ID:6867164
Promoter ID:EPDNEW_H6747
Type:multiple initiation site
Name:SLC34A2_1
Description:solute carrier family 34 member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38425,655,852 - 25,655,912EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11020 AgrOrtholog
COSMIC SLC34A2 COSMIC
Ensembl Genes ENSG00000157765 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000382051 ENTREZGENE
  ENST00000382051.8 UniProtKB/Swiss-Prot
  ENST00000503434 ENTREZGENE
  ENST00000503434.5 UniProtKB/Swiss-Prot
  ENST00000504570 ENTREZGENE
  ENST00000504570.5 UniProtKB/Swiss-Prot
  ENST00000507530.1 UniProtKB/TrEMBL
  ENST00000513204.5 UniProtKB/TrEMBL
  ENST00000645788.1 UniProtKB/Swiss-Prot
GTEx ENSG00000157765 GTEx
HGNC ID HGNC:11020 ENTREZGENE
Human Proteome Map SLC34A2 Human Proteome Map
InterPro Na/Pi_transpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10568 UniProtKB/Swiss-Prot
NCBI Gene 10568 ENTREZGENE
OMIM 604217 OMIM
PANTHER PTHR10010 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10010:SF23 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Na_Pi_cotrans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35888 PharmGKB
UniProt A0A0B5E3E9 ENTREZGENE, UniProtKB/TrEMBL
  A5PL17 ENTREZGENE
  A8K9G0 ENTREZGENE, UniProtKB/TrEMBL
  D6RA94_HUMAN UniProtKB/TrEMBL
  D6RBC0_HUMAN UniProtKB/TrEMBL
  NPT2B_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8N2K2 ENTREZGENE
  Q8WYA9 ENTREZGENE
  Q9P0V7 ENTREZGENE
UniProt Secondary A5PL17 UniProtKB/Swiss-Prot
  Q8N2K2 UniProtKB/Swiss-Prot
  Q8WYA9 UniProtKB/Swiss-Prot
  Q9P0V7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-08 SLC34A2  solute carrier family 34 member 2    solute carrier family 34 (type II sodium/phosphate cotransporter), member 2  Symbol and/or name change 5135510 APPROVED
2014-11-26 SLC34A2  solute carrier family 34 (type II sodium/phosphate cotransporter), member 2    solute carrier family 34 (type II sodium/phosphate contransporter), member 2  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC34A2  solute carrier family 34 (type II sodium/phosphate contransporter), member 2    solute carrier family 34 (sodium phosphate), member 2  Symbol and/or name change 5135510 APPROVED