ALPG alkaline phosphatase, germ cell [Homo sapiens (human)] - Gene

Summary

Official Symbol: ALPGprovided by HGNC
Official Full Name: alkaline phosphatase, germ cellprovided by HGNC
Primary source: HGNC:HGNC:441
See related: Ensembl:ENSG00000163286 MIM:171810; AllianceGenome:HGNC:441
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GCAP; ALPPL; ALPPL2
Summary: There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The product of this gene is a membrane bound glycosylated enzyme, localized to testis, thymus and certain germ cell tumors, that is closely related to both the placental and intestinal forms of alkaline phosphatase. [provided by RefSeq, Jul 2008]
Expression: Biased expression in placenta (RPKM 6.1), lung (RPKM 0.8) and 1 other tissue See more
Orthologs: all
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Genomic context

Location:: 2q37.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (232406844..232410714)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (232893640..232897508)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (233271554..233275424)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of ALPPL2 as a Naive Pluripotent State-Specific Surface Protein Essential for Human Naive Pluripotency Regulation.
Title: Identification of ALPPL2 as a Naive Pluripotent State-Specific Surface Protein Essential for Human Naive Pluripotency Regulation.
ALPPL2 Is a Highly Specific and Targetable Tumor Cell Surface Antigen.
Title: ALPPL2 Is a Highly Specific and Targetable Tumor Cell Surface Antigen.
GWAS identified a novel gene encoding an anastrozole transporter, SLC38A7, as well as epistatic interaction between SNPs in that gene and SNPs near ALPPL2 that influenced both the expression of the transporter and anastrozole plasma concentrations
Title: Anastrozole Aromatase Inhibitor Plasma Drug Concentration Genome-Wide Association Study: Functional Epistatic Interaction Between SLC38A7 and ALPPL2.
Our results indicated that the expression of ALPPL2 was significantly increased in gastric adenocarcinoma and was an independent factor that could provide reliable prognostic information on gastric adenocarcinoma patients
Title: High expression of ALPPL2 is associated with poor prognosis in gastric cancer.
aptamer-mediated identification of ALPPL-2 on the cell surface and cell secretions of pancreatic cancer cells supports its potential use in the serum- and membrane-based diagnosis of PDAC
Title: Alkaline phosphatase ALPPL-2 is a novel pancreatic carcinoma-associated protein.
the structural differences in human AP isoforms are demonstrated through models
Title: Structural evidence of functional divergence in human alkaline phosphatases.
Premature induction of hypertrophy-related molecules (type X collagen and matrix metalloproteinase 13) occurred before production of type II collagen and was followed by up-regulation of alkaline phosphatase activity.
Title: Premature induction of hypertrophy during in vitro chondrogenesis of human mesenchymal stem cells correlates with calcification and vascular invasion after ectopic transplantation in SCID mice.
These results indicate that IAP is strongly involved in chylomicron formation and fatty acid metabolism might change among ABO blood type.
Title: Involvement of intestinal alkaline phosphatase in serum apolipoprotein B-48 level and its association with ABO and secretor blood group types.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2S2633 (e-PCR)
- UniSTS:16134

GDB:181234 (e-PCR)
- UniSTS:155202

GDB:180439 (e-PCR)
- UniSTS:155103

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alkaline phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables alkaline phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables alkaline phosphatase activity	NAS Non-traceable Author Statement more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in side of membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: alkaline phosphatase, germ cell type

Names: ALP-1; Nagao isozyme; alkaline phosphatase Nagao isozyme; alkaline phosphatase, placental like 2; alkaline phosphatase, placental-like; germ cell alkaline phosphatase; placental-like alkaline phosphatase; testicular and thymus alkaline phosphatase

NP_112603.2

EC 3.1.3.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

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