Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID	93650
Gene name	Acid phosphatase 4
Gene symbol	ACP4
Synonyms (NCBI Gene)	ACPTAI1J
Chromosome	19
Chromosome location	19q13.33
Summary	Acid phosphatases are enzymes capable of hydrolyzing orthophosphoric acid esters in an acid medium. This gene is up-regulated by androgens and is down-regulated by estrogens in the prostate cancer cell line. This gene exhibits a lower level of expression

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003993	Function	Acid phosphatase activity	IBA
GO:0003993	Function	Acid phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	IBA
GO:0004725	Function	Protein tyrosine phosphatase activity	IDA	15219672
GO:0005764	Component	Lysosome	IBA
GO:0010955	Process	Negative regulation of protein processing	IMP	15219672
GO:0010977	Process	Negative regulation of neuron projection development	IDA	15219672
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030971	Function	Receptor tyrosine kinase binding	IBA
GO:0030971	Function	Receptor tyrosine kinase binding	IDA	15219672
GO:0042476	Process	Odontogenesis	IMP	27843125
GO:0045211	Component	Postsynaptic membrane	IBA
GO:0048168	Process	Regulation of neuronal synaptic plasticity	IBA
GO:0048168	Process	Regulation of neuronal synaptic plasticity	IDA	15219672
GO:0097060	Component	Synaptic membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0120154	Process	Negative regulation of ERBB4 signaling pathway	IBA
GO:0120154	Process	Negative regulation of ERBB4 signaling pathway	IDA	15219672
GO:1990264	Process	Peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity	IDA	15219672

MIM	HGNC	e!Ensembl
606362	14376	ENSG00000142513

Q9BZG2

Protein name

Testicular acid phosphatase (EC 3.1.3.2) (Acid phosphatase 4)

Protein function

May dephosphorylate receptor tyrosine-protein kinase ERBB4 and inhibits its ligand-induced proteolytic cleavage (PubMed:15219672). May play a role in odontogenesis (PubMed:27843125).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00328	His_Phos_2	31 → 321	Histidine phosphatase superfamily (branch 2)	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed mainly in the testis. Also expressed in the brain where they are enriched at the postsynaptic sites. Expressed at lower levels in the trachea, prostate, bone marrow, spinal cord, colon, fetal brain, heart, thymus, fetal liver

Sequence

MAGLGFWGHPAGPLLLLLLLVLPPRALPEGPLVFVALVFRHGDRAPLASYPMDPHKEVAS
TLWPRGLGQLTTEGVRQQLELGRFLRSRYEAFLSPEYRREEVYIRSTDFDRTLESAQANL
AGLFPEAAPGSPEARWRPIPVHTVPVAEDKLLRFPMRSCPRYHELLREATEAAEYQEALE
GWTGFLSRLENFTGLSLVGEPLRRAWKVLDTLMCQQAHGLPLPAWASPDVLRTLAQISAL
DIGAHVGPPRAAEKAQLTGGILLNAILANFSRVQRLGLPLKMVMYSAHDSTLLALQGALG
LYDGHTPPYAACLGFEFRKHLGNPAKDGGNVTVSLFYRNDSAHLPLPLSLPGCPAPCPLG
RFYQLTAPARPPAHGVSCHGPYEAAIPPAPVVPLLAGAVAVLVALSLGLGLLAWRPGCLR
ALGGPV

Sequence length

426

Interactions

View interactions

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Amelogenesis imperfecta, type 1J	Likely pathogenic; Pathogenic	rs1212633515, rs756274541, rs202073531, rs1057519277, rs767907487, rs779823931, rs1085307111, rs546603773	RCV003154840 RCV003154841 RCV000415543 RCV000415588 RCV000415614 RCV000415549 RCV000489871 RCV000489568 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ACP4-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis imperfecta	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AMELOGENESIS IMPERFECTA LOCAL HYPOPLASTIC FORM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis imperfecta type 1	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AMELOGENESIS IMPERFECTA, TYPE IJ	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (16)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amelogenesis Imperfecta	Amelogenesis imperfecta	Pubtator	27843125, 34036831	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amelogenesis Imperfecta	Amelogenesis imperfecta	CLINVAR_DG	28513613		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	30877375		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amelogenesis Imperfecta	Amelogenesis imperfecta	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amelogenesis imperfecta local hypoplastic form	Amelogenesis Imperfecta	ORPHANET_DG	27843125		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis imperfecta local hypoplastic form	Amelogenesis imperfecta	Pubtator	27843125, 28513613, 34036831	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis imperfecta local hypoplastic form	Amelogenesis Imperfecta	BEFREE	28513613		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE IJ	Amelogenesis imperfecta	UNIPROT_DG	27843125		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE IJ	Amelogenesis imperfecta	GENOMICS_ENGLAND_DG	27843125		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE IJ	Amelogenesis imperfecta	CLINVAR_DG	28513613		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE IJ	Amelogenesis imperfecta	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Infarction	Brain Infarction	BEFREE	29438731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplastic amelogenesis imperfecta	Hypoplastic Amelogenesis Imperfecta	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11414767		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11414767		★★★★★ ★☆☆☆☆ Found in Text Mining only

ACP4 (acid phosphatase 4)