ALPP (alkaline phosphatase, placental) - Rat Genome Database

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Gene: ALPP (alkaline phosphatase, placental) Homo sapiens
Analyze
Symbol: ALPP
Name: alkaline phosphatase, placental
RGD ID: 1314395
HGNC Page HGNC
Description: Enables alkaline phosphatase activity. Predicted to be involved in dephosphorylation. Predicted to act upstream of or within neural tube development; neurogenesis; and post-anal tail morphogenesis. Located in cell surface and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alkaline phosphatase Regan isozyme; alkaline phosphatase, placental (Regan isozyme); alkaline phosphatase, placental type; alkaline phosphomonoesterase; ALP; ALPI; FLJ61142; glycerophosphatase; IAP; Intestinal alkaline phosphatase; Intestinal-type alkaline phosphatase; PALP; placental alkaline phosphatase 1; PLAP; PLAP-1; Regan isozyme
RGD Orthologs
Rat
Bonobo
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Is Marker For: Strains:   F344-Tg(ROSA26-ALPP)EpsRrrc   ACI-Tg(ROSA26-ALPP)Rrrc  
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382232,378,751 - 232,382,889 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2232,378,724 - 232,382,889 (+)EnsemblGRCh38hg38GRCh38
GRCh372233,243,461 - 233,247,599 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362232,951,592 - 232,955,843 (+)NCBINCBI36hg18NCBI36
Build 342233,068,964 - 233,073,097NCBI
Celera2227,007,506 - 227,011,757 (+)NCBI
Cytogenetic Map2q37.1NCBI
HuRef2225,094,117 - 225,098,368 (+)NCBIHuRef
CHM1_12233,249,521 - 233,253,772 (+)NCBICHM1_1
T2T-CHM13v2.02232,865,486 - 232,869,624 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3',5'-cyclic AMP  (EXP)
4-nitrophenyl phosphate  (EXP)
5-aza-2'-deoxycytidine  (EXP)
acetophenone  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
alternariol  (EXP)
amphetamine  (EXP)
arsenous acid  (EXP)
atazanavir sulfate  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP)
calcium atom  (EXP)
calcium(0)  (EXP)
carbon nanotube  (EXP)
chenodeoxycholic acid  (EXP)
chloropicrin  (EXP)
chlorpromazine  (EXP)
clozapine  (EXP)
colforsin daropate hydrochloride  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
deoxycholic acid  (EXP)
desipramine  (EXP)
diarsenic trioxide  (EXP)
endosulfan  (EXP)
epitestosterone  (EXP)
estrone  (EXP)
etoposide  (EXP)
formaldehyde  (EXP)
genistein  (EXP)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
graphite  (EXP)
hydrogen peroxide  (EXP)
ICI 118551  (EXP)
isoprenaline  (EXP)
lithium chloride  (EXP)
methotrexate  (EXP)
N-nitrosodiethylamine  (ISO)
nefazodone  (EXP)
Norfluoxetine  (EXP)
paracetamol  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
phenobarbital  (EXP)
potassium chromate  (EXP)
progesterone  (EXP)
resveratrol  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
strontium dichloride  (EXP)
sulforaphane  (EXP)
Sunset Yellow FCF  (EXP)
testosterone  (EXP)
thapsigargin  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:533715   PMID:1065870   PMID:1321014   PMID:1730777   PMID:1939159   PMID:2017684   PMID:2133555   PMID:2153284   PMID:2891112   PMID:3001717   PMID:3042787   PMID:3422741  
PMID:3443302   PMID:3459156   PMID:3461452   PMID:3512548   PMID:3687940   PMID:4460867   PMID:4812951   PMID:4955840   PMID:6072617   PMID:6186142   PMID:6651840   PMID:7072721  
PMID:7748466   PMID:8244974   PMID:11124260   PMID:11278620   PMID:11352565   PMID:11857742   PMID:11937510   PMID:11938765   PMID:12081485   PMID:12372831   PMID:12477932   PMID:12493773  
PMID:12616539   PMID:12851398   PMID:14595869   PMID:15489334   PMID:15715171   PMID:15815621   PMID:15907827   PMID:15946677   PMID:16303743   PMID:16344560   PMID:16431676   PMID:16815919  
PMID:16893177   PMID:17787764   PMID:18416535   PMID:18752324   PMID:18775313   PMID:18802949   PMID:19450995   PMID:19570815   PMID:19574883   PMID:19595020   PMID:20299338   PMID:20360068  
PMID:20655896   PMID:20663553   PMID:20693656   PMID:21516013   PMID:21692598   PMID:21868091   PMID:21873635   PMID:21910833   PMID:21939286   PMID:22190034   PMID:22268729   PMID:22333159  
PMID:22641346   PMID:24019514   PMID:24043717   PMID:24247025   PMID:24296104   PMID:24332808   PMID:24856042   PMID:25409280   PMID:25416956   PMID:25464930   PMID:25906119   PMID:26988336  
PMID:27342126   PMID:28049764   PMID:28514442   PMID:29117863   PMID:29970708   PMID:30097533   PMID:30413534   PMID:30417313   PMID:30833792   PMID:31586073   PMID:32296183   PMID:32472757  
PMID:32728117   PMID:32906115   PMID:32918806   PMID:32934082   PMID:33144569   PMID:33545068   PMID:33961781   PMID:34363325   PMID:34428361   PMID:34831233  


Genomics

Comparative Map Data
ALPP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382232,378,751 - 232,382,889 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2232,378,724 - 232,382,889 (+)EnsemblGRCh38hg38GRCh38
GRCh372233,243,461 - 233,247,599 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362232,951,592 - 232,955,843 (+)NCBINCBI36hg18NCBI36
Build 342233,068,964 - 233,073,097NCBI
Celera2227,007,506 - 227,011,757 (+)NCBI
Cytogenetic Map2q37.1NCBI
HuRef2225,094,117 - 225,098,368 (+)NCBIHuRef
CHM1_12233,249,521 - 233,253,772 (+)NCBICHM1_1
T2T-CHM13v2.02232,865,486 - 232,869,624 (+)NCBI
Alpp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2987,765,846 - 87,768,606 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl987,765,860 - 87,768,606 (-)Ensembl
Rnor_6.0994,189,961 - 94,193,054 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl994,190,067 - 94,192,813 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0993,915,268 - 93,918,014 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4985,885,336 - 85,888,082 (-)NCBIRGSC3.4rn4RGSC3.4
Celera985,179,458 - 85,182,551 (-)NCBICelera
Cytogenetic Map9q35NCBI
LOC100991867
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B238,383,768 - 238,566,258 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B238,383,768 - 238,388,105 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B119,594,655 - 119,600,138 (+)NCBIMhudiblu_PPA_v0panPan3
LOC100522404
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.115132,974,852 - 132,979,361 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215146,984,304 - 146,988,599 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103218079
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110118,388,987 - 118,393,022 (+)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604081,107,840 - 81,112,706 (-)NCBIVero_WHO_p1.0

Position Markers
GDB:176648  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,245,804 - 233,246,206UniSTSGRCh37
Build 362232,954,048 - 232,954,450RGDNCBI36
Celera2227,009,962 - 227,010,364RGD
Cytogenetic Map2q37UniSTS
HuRef2225,096,573 - 225,096,975UniSTS
GDB:181234  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,273,642 - 233,273,920UniSTSGRCh37
GRCh372233,245,561 - 233,245,839UniSTSGRCh37
Build 362232,953,805 - 232,954,083RGDNCBI36
Celera2227,037,850 - 227,038,128UniSTS
Celera2227,009,719 - 227,009,997RGD
Cytogenetic Map2q37UniSTS
HuRef2225,096,330 - 225,096,608UniSTS
HuRef2225,124,404 - 225,124,682UniSTS
GDB:216786  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,243,486 - 233,243,754UniSTSGRCh37
Build 362232,951,730 - 232,951,998RGDNCBI36
Celera2227,007,644 - 227,007,912RGD
Cytogenetic Map2q37UniSTS
HuRef2225,094,255 - 225,094,523UniSTS
ALPP_38  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,246,778 - 233,247,671UniSTSGRCh37
Build 362232,955,022 - 232,955,915RGDNCBI36
Celera2227,010,936 - 227,011,829RGD
HuRef2225,097,547 - 225,098,440UniSTS
A002R47  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,247,303 - 233,247,409UniSTSGRCh37
Build 362232,955,547 - 232,955,653RGDNCBI36
Celera2227,011,461 - 227,011,567RGD
Cytogenetic Map2q37UniSTS
HuRef2225,098,072 - 225,098,178UniSTS
GeneMap99-GB4 RH Map2720.07UniSTS
GDB:180439  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2q37UniSTS


Related Rat Strains
The following Strains have been annotated to ALPP

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1516
Count of miRNA genes:664
Interacting mature miRNAs:739
Transcripts:ENST00000392027, ENST00000474529, ENST00000485563
Prediction methods:Microtar, Miranda, Rnahybrid
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 1 3 1
Medium 40 5 5 9 3 1 1 6 77 175 5 4
Low 51 3 14 7 52 7 149 7 13 18 203 520 2 1 2 1
Below cutoff 723 585 517 114 746 80 873 383 1159 83 886 460 35 211 530

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC068134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF217992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA851165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC006778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M12551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M14169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M14170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M19159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M19161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M19889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000392027   ⟹   ENSP00000375881
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2232,378,751 - 232,382,889 (+)Ensembl
RefSeq Acc Id: ENST00000474529
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2232,378,724 - 232,379,784 (+)Ensembl
RefSeq Acc Id: ENST00000485563
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2232,381,239 - 232,382,609 (+)Ensembl
RefSeq Acc Id: NM_001632   ⟹   NP_001623
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382232,378,751 - 232,382,889 (+)NCBI
GRCh372233,243,348 - 233,247,599 (+)ENTREZGENE
GRCh372233,243,348 - 233,247,599 (+)NCBI
Build 362232,951,592 - 232,955,843 (+)NCBI Archive
HuRef2225,094,117 - 225,098,368 (+)ENTREZGENE
CHM1_12233,249,417 - 233,253,772 (+)NCBI
T2T-CHM13v2.02232,865,486 - 232,869,624 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001623   ⟸   NM_001632
- Peptide Label: preproprotein
- UniProtKB: P05187 (UniProtKB/Swiss-Prot),   B2R7C7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000375881   ⟸   ENST00000392027

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P05187-F1-model_v2 AlphaFold P05187 1-535 view protein structure

Promoters
RGD ID:6863082
Promoter ID:EPDNEW_H4706
Type:initiation region
Name:ALPP_1
Description:alkaline phosphatase, placental
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
GRCh382232,378,751 - 232,378,811EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001632.3(ALPP):c.74C= (p.Pro25=) single nucleotide variant ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-1 POLYMORPHISM [RCV000014644] Chr2:232378876 [GRCh38]
Chr2:233243586 [GRCh37]
Chr2:2q37.1
pathogenic|benign
NM_001632.3(ALPP):c.74C>T (p.Pro25Leu) single nucleotide variant ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-3 POLYMORPHISM [RCV000014646] Chr2:232378876 [GRCh38]
Chr2:233243586 [GRCh37]
Chr2:2q37.1
pathogenic|benign
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000050304] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|See cases [RCV000052639] Chr2:231375505..242065208 [GRCh38]
Chr2:232240216..243007359 [GRCh37]
Chr2:231948460..242656032 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1 copy number loss See cases [RCV000052637] Chr2:226978129..236886599 [GRCh38]
Chr2:227842845..237795242 [GRCh37]
Chr2:227551089..237459981 [NCBI36]
Chr2:2q36.3-37.3
pathogenic
GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1 copy number loss See cases [RCV000052638] Chr2:227343278..235339168 [GRCh38]
Chr2:228207994..236247812 [GRCh37]
Chr2:227916238..235912551 [NCBI36]
Chr2:2q36.3-37.2
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3
pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3 copy number gain See cases [RCV000052973] Chr2:227803148..242086301 [GRCh38]
Chr2:228667864..243028452 [GRCh37]
Chr2:228376108..242677125 [NCBI36]
Chr2:2q36.3-37.3
pathogenic
GRCh38/hg38 2q37.1(chr2:231892041-232652305)x1 copy number loss See cases [RCV000133712] Chr2:231892041..232652305 [GRCh38]
Chr2:232756751..233517015 [GRCh37]
Chr2:232464995..233225259 [NCBI36]
Chr2:2q37.1
pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3 copy number gain See cases [RCV000134169] Chr2:228723579..241404867 [GRCh38]
Chr2:229588295..242344282 [GRCh37]
Chr2:229296539..241992955 [NCBI36]
Chr2:2q36.3-37.3
pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3
pathogenic
GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3 copy number gain See cases [RCV000136967] Chr2:228014149..234976424 [GRCh38]
Chr2:228878865..235885068 [GRCh37]
Chr2:228587109..235549807 [NCBI36]
Chr2:2q36.3-37.2
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q37.1(chr2:232376206-232542668)x3 copy number gain See cases [RCV000142606] Chr2:232376206..232542668 [GRCh38]
Chr2:233240916..233407378 [GRCh37]
Chr2:232949160..233115622 [NCBI36]
Chr2:2q37.1
benign
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000148260] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1(chr2:232379030-232526243)x1 copy number loss Ductal breast carcinoma [RCV000207090] Chr2:232379030..232526243 [GRCh38]
Chr2:233243739..233390952 [GRCh37]
Chr2:2q37.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.1(chr2:233055165-233763272)x3 copy number gain See cases [RCV000447269] Chr2:233055165..233763272 [GRCh37]
Chr2:2q37.1
uncertain significance
GRCh37/hg19 2q37.1(chr2:232215111-235593473)x1 copy number loss See cases [RCV000446723] Chr2:232215111..235593473 [GRCh37]
Chr2:2q37.1
likely pathogenic
GRCh37/hg19 2q37.1(chr2:233181492-233325849) copy number gain Abnormal esophagus morphology [RCV000416920] Chr2:233181492..233325849 [GRCh37]
Chr2:2q37.1
likely benign
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 copy number gain See cases [RCV000448049] Chr2:219966808..237815985 [GRCh37]
Chr2:2q35-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3 copy number gain See cases [RCV000511816] Chr2:222077224..239394441 [GRCh37]
Chr2:2q36.1-37.3
pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.1(chr2:233184683-233303133)x3 copy number gain not provided [RCV000740950] Chr2:233184683..233303133 [GRCh37]
Chr2:2q37.1
benign
GRCh37/hg19 2q37.1(chr2:233201328-233310149)x1 copy number loss not provided [RCV000740951] Chr2:233201328..233310149 [GRCh37]
Chr2:2q37.1
benign
GRCh37/hg19 2q37.1(chr2:233201328-233315308)x3 copy number gain not provided [RCV000740952] Chr2:233201328..233315308 [GRCh37]
Chr2:2q37.1
benign
GRCh37/hg19 2q37.1(chr2:233204359-233310149)x3 copy number gain not provided [RCV000740953] Chr2:233204359..233310149 [GRCh37]
Chr2:2q37.1
benign
GRCh37/hg19 2q37.1(chr2:233227833-233310149)x3 copy number gain not provided [RCV000740954] Chr2:233227833..233310149 [GRCh37]
Chr2:2q37.1
benign
GRCh37/hg19 2q37.1(chr2:233242964-233294252)x3 copy number gain not provided [RCV000740955] Chr2:233242964..233294252 [GRCh37]
Chr2:2q37.1
benign
NM_001632.5(ALPP):c.528C>A (p.Ala176=) single nucleotide variant not provided [RCV000950388] Chr2:232379807 [GRCh38]
Chr2:233244517 [GRCh37]
Chr2:2q37.1
benign
NM_001632.5(ALPP):c.189C>G (p.Gly63=) single nucleotide variant not provided [RCV000884494] Chr2:232379083 [GRCh38]
Chr2:233243793 [GRCh37]
Chr2:2q37.1
likely benign
NM_001632.5(ALPP):c.657C>T (p.Asp219=) single nucleotide variant not provided [RCV000881109] Chr2:232379936 [GRCh38]
Chr2:233244646 [GRCh37]
Chr2:2q37.1
benign
NM_001632.5(ALPP):c.77-9C>T single nucleotide variant not provided [RCV000970607] Chr2:232378962 [GRCh38]
Chr2:233243672 [GRCh37]
Chr2:2q37.1
likely benign
NM_001632.5(ALPP):c.865+8C>T single nucleotide variant not provided [RCV000946696] Chr2:232380500 [GRCh38]
Chr2:233245210 [GRCh37]
Chr2:2q37.1
likely benign
NM_001632.5(ALPP):c.699A>G (p.Gly233=) single nucleotide variant not provided [RCV000946694] Chr2:232380227 [GRCh38]
Chr2:233244937 [GRCh37]
Chr2:2q37.1
likely benign
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3
pathogenic
NM_001632.5(ALPP):c.108C>T (p.Arg36=) single nucleotide variant not provided [RCV000958627] Chr2:232379002 [GRCh38]
Chr2:233243712 [GRCh37]
Chr2:2q37.1
benign
NM_001632.5(ALPP):c.993C>T (p.Phe331=) single nucleotide variant not provided [RCV000958628] Chr2:232380750 [GRCh38]
Chr2:233245460 [GRCh37]
Chr2:2q37.1
benign
NM_001632.5(ALPP):c.730A>G (p.Ser244Gly) single nucleotide variant not provided [RCV000883698] Chr2:232380258 [GRCh38]
Chr2:233244968 [GRCh37]
Chr2:2q37.1
benign
NM_001632.5(ALPP):c.575C>G (p.Ser192Trp) single nucleotide variant not provided [RCV000886161] Chr2:232379854 [GRCh38]
Chr2:233244564 [GRCh37]
Chr2:2q37.1
likely benign
NM_001632.5(ALPP):c.692G>C (p.Arg231Pro) single nucleotide variant not provided [RCV000946693] Chr2:232380220 [GRCh38]
Chr2:233244930 [GRCh37]
Chr2:2q37.1
benign
NM_001632.5(ALPP):c.804T>C (p.Tyr268=) single nucleotide variant not provided [RCV000946695] Chr2:232380431 [GRCh38]
Chr2:233245141 [GRCh37]
Chr2:2q37.1
likely benign
NM_001632.5(ALPP):c.109G>C (p.Glu37Gln) single nucleotide variant not provided [RCV000953451] Chr2:232379003 [GRCh38]
Chr2:233243713 [GRCh37]
Chr2:2q37.1
benign
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1 copy number loss Chromosome 2q37 deletion syndrome [RCV001263221] Chr2:233110452..243028452 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3 copy number gain not provided [RCV001007519] Chr2:230814690..242783384 [GRCh37]
Chr2:2q36.3-37.3
pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic
GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892) copy number loss not specified [RCV002053291] Chr2:228807574..235475892 [GRCh37]
Chr2:2q36.3-37.1
pathogenic
GRCh37/hg19 2q37.1(chr2:232215111-235593473) copy number loss not specified [RCV002053294] Chr2:232215111..235593473 [GRCh37]
Chr2:2q37.1
likely pathogenic
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) copy number loss not specified [RCV002053285] Chr2:219606537..239217703 [GRCh37]
Chr2:2q35-37.3
pathogenic
NC_000002.11:g.(?_233164730)_(234250992_?)dup duplication not provided [RCV001989941] Chr2:233164730..234250992 [GRCh37]
Chr2:2q37.1
uncertain significance
NC_000002.11:g.(?_231033840)_(234978657_?)dup duplication Joubert syndrome 22 [RCV001877690]|Perlman syndrome [RCV001877689] Chr2:231033840..234978657 [GRCh37]
Chr2:2q37.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:439 AgrOrtholog
COSMIC ALPP COSMIC
Ensembl Genes ENSG00000163283 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000375881 ENTREZGENE
  ENSP00000375881.2 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000392027 ENTREZGENE
  ENST00000392027.3 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.720.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000163283 GTEx
HGNC ID HGNC:439 ENTREZGENE
Human Proteome Map ALPP Human Proteome Map
InterPro Alkaline_phosphatase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Alkaline_phosphatase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Alkaline_phosphatase_core_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:250 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 250 ENTREZGENE
OMIM 171800 OMIM
PANTHER PTHR11596 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Alk_phosphatase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24730 PharmGKB
PRINTS ALKPHPHTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ALKALINE_PHOSPHATASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART alkPPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53649 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R7C7 ENTREZGENE, UniProtKB/TrEMBL
  P05187 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary P05188 UniProtKB/Swiss-Prot
  P06861 UniProtKB/Swiss-Prot
  Q53S78 UniProtKB/Swiss-Prot
  Q96DB7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-08-16 ALPP  alkaline phosphatase, placental  ALPP  alkaline phosphatase, placental  Symbol and/or name change 5135510 APPROVED
2011-07-27 ALPP  alkaline phosphatase, placental  ALPP  alkaline phosphatase, placental (Regan isozyme)  Symbol and/or name change 5135510 APPROVED