GAPDHS (glyceraldehyde-3-phosphate dehydrogenase, spermatogenic)

Gene

• Entrez ID: 26330
• Gene name: Glyceraldehyde-3-phosphate dehydrogenase, spermatogenic
• Gene symbol: GAPDHS
• Synonyms (NCBI Gene): GAPD2, GAPDH-2, GAPDS, HEL-S-278, HSD-35
• Chromosome: 19
• Chromosome location: 19q13.12
• Summary: This gene encodes a protein belonging to the glyceraldehyde-3-phosphate dehydrogenase family of enzymes that play an important role in carbohydrate metabolism. Like its somatic cell counterpart, this sperm-specific enzyme functions in a nicotinamide adeni

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018010	hsa-miR-335-5p	Microarray	18185580
MIRT1999819	hsa-miR-3667-3p	CLIP-seq
MIRT1999820	hsa-miR-4691-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004365	Function	Glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity	IBA
GO:0004365	Function	Glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity	IEA
GO:0004365	Function	Glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity	TAS	10714828
GO:0005515	Function	Protein binding	IPI	16820410, 28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006006	Process	Glucose metabolic process	IEA
GO:0006096	Process	Glycolytic process	IBA
GO:0006096	Process	Glycolytic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016620	Function	Oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IEA
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0045821	Process	Positive regulation of glycolytic process	TAS	10714828
GO:0050661	Function	NADP binding	IEA
GO:0051287	Function	NAD binding	IEA

Other IDs

• MIM: 609169
• HGNC: 24864
• e!Ensembl: ENSG00000105679

Protein

• UniProt ID: O14556
• Protein name: Glyceraldehyde-3-phosphate dehydrogenase, testis-specific (EC 1.2.1.12) (Spermatogenic cell-specific glyceraldehyde 3-phosphate dehydrogenase 2) (GAPDH-2) (Spermatogenic glyceraldehyde-3-phosphate dehydrogenase)
• Protein function: May play an important role in regulating the switch between different pathways for energy production during spermiogenesis and in the spermatozoon. Required for sperm motility and male fertility (By similarity).
• PDB: 3H9E, 3PFW, 5C7L, 5C7O
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00044	Gp_dh_N	76 → 176	Glyceraldehyde 3-phosphate dehydrogenase, NAD binding domain	Domain
  PF02800	Gp_dh_C	229 → 386	Glyceraldehyde 3-phosphate dehydrogenase, C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Testis specific.
• Sequence:

  MSKRDIVLTNVTVVQLLRQPCPVTRAPPPPEPKAEVEPQPQPEPTPVREEIKPPPPPLPP
  HPATPPPKMVSVARELTVGINGFGRIGRLVLRACMEKGVKVVAVNDPFIDPEYMVYMFKY
  DSTHGRYKGSVEFRNGQLVVDNHEISVYQCKEPKQIPWRAVGSPYVVESTGVYLSIQAAS
  DHISAGAQRVVISAPSPDAPMFVMGVNENDYNPGSMNIVSNASCTTNCLAPLAKVIHERF
  GIVEGLMTTVHSYTATQKTVDGPSRKAWRDGRGAHQNIIPASTGAAKAVTKVIPELKGKL
  TGMAFRVPTPDVSVVDLTCRLAQPAPYSAIKEAVKAAAKGPMAGILAYTEDEVVSTDFLG
  DTHSSIFDAKAGIALNDNFVKLISWYDNEYGYSHRVVDLLRYMFSRDK

• Sequence length: 408

Pathways

KEGG:

Glycolysis / Gluconeogenesis
Metabolic pathways

Reactome:

Glycolysis
Gluconeogenesis

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
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	Pubtator	32321348	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	23675907, 32321348	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26255202		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	34970420	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25308277		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23026046		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35149585	Associate	★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	23675907, 31065688		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only