ALPG (alkaline phosphatase, germ cell)

Gene

• Entrez ID: 251
• Gene name: Alkaline phosphatase, germ cell
• Gene symbol: ALPG
• Synonyms (NCBI Gene): ALPPL, ALPPL2, GCAP
• Chromosome: 2
• Chromosome location: 2q37.1
• 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 certa

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004035	Function	Alkaline phosphatase activity	IBA
GO:0004035	Function	Alkaline phosphatase activity	IDA	1939159
GO:0004035	Function	Alkaline phosphatase activity	IEA
GO:0004035	Function	Alkaline phosphatase activity	NAS	2162249
GO:0005576	Component	Extracellular region	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016791	Function	Phosphatase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0098552	Component	Side of membrane	IEA

Other IDs

• MIM: 171810
• HGNC: 441
• e!Ensembl: ENSG00000163286

Protein

• UniProt ID: P10696
• Protein name: Alkaline phosphatase, germ cell type (EC 3.1.3.1) (ALP-1) (Alkaline phosphatase Nagao isozyme) (Alkaline phosphatase, placental-like) (Germ cell alkaline phosphatase) (GCAP) (Placental alkaline phosphatase-like) (PLAP-like)
• Protein function: Alkaline phosphatase that can hydrolyze various phosphate compounds.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00245	Alk_phosphatase	52 → 487	Alkaline phosphatase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Trace amounts in the testis and thymus, and in elevated amounts in germ cell tumors.
• Sequence:

  MQGPWVLLLLGLRLQLSLGIIPVEEENPDFWNRQAAEALGAAKKLQPAQTAAKNLIIFLG
  DGMGVSTVTAARILKGQKKDKLGPETFLAMDRFPYVALSKTYSVDKHVPDSGATATAYLC
  GVKGNFQTIGLSAAARFNQCNTTRGNEVISVMNRAKKAGKSVGVVTTTRVQHASPAGAYA
  HTVNRNWYSDADVPASARQEGCQDIATQLISNMDIDVILGGGRKYMFPMGTPDPEYPDDY
  SQGGTRLDGKNLVQEWLAKHQGARYVWNRTELLQASLDPSVTHLMGLFEPGDMKYEIHRD
  STLDPSLMEMTEAALLLLSRNPRGFFLFVEGGRIDHGHHESRAYRALTETIMFDDAIERA
  GQLTSEEDTLSLVTADHSHVFSFGGYPLRGSSIFGLAPGKARDRKAYTVLLYGNGPGYVL
  KDGARPDVTESESGSPEYRQQSAVPLDGETHAGEDVAVFARGPQAHLVHGVQEQTFIAHV
  MAFAACLEPYTACDLAPRAGTTDAAHPGPSVVPALLPLLAGTLLLLGTATAP

• Sequence length: 532

Pathways

KEGG:

Thiamine metabolism
Folate biosynthesis
Metabolic pathways
Biosynthesis of cofactors

Reactome:

Post-translational modification: synthesis of GPI-anchored proteins

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
NEPHROTIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Choriocarcinoma	Choriocarcinoma	BEFREE	2009524, 2745460, 8314767, 8703954		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30879693		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	2297757		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36160034	Associate	★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	10430891		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	27606906		★☆☆☆☆ Found in Text Mining only
Embryonal Neoplasm	Embryonal Neoplasm	BEFREE	16115909		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	30496798		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	17521702, 26306513		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	30655881		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31687420		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30496798		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	2297757		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	CTD_human_DG	18539642		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	1596896, 30496798, 3325192, 7748466		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	26242403	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	1871513	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31687420		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31687420		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	16115909, 21683984, 2834730, 8386657		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	1871513	Stimulate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30496798		★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	26306513		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	26242403	Associate	★☆☆☆☆ Found in Text Mining only