|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
54
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Acid phosphatase 5, tartrate resistant |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
ACP5 |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
HPAP, TRACP5a, TRACP5b, TRAP, TRAcP, TrATPase |
|
Chromosome
Chromosome number
|
19 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
19p13.2 |
|
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. [provided by Re |
|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Spondyloenchondrodysplasia With Immune Dysregulation |
spondyloenchondrodysplasia with immune dysregulation |
rs387906670, rs781199182, rs781050795, rs879255600, rs878853218, rs1025967277, rs761798208, rs1599634435, rs387906668, rs747619825, rs387906669 |
N/A |
|
|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Lung Cancer |
Lung cancer |
From individual knockout of 55 potential TSGs, we identify five genes, including Utx, Ptip, Acp5, Acacb, and Clu, whose knockout significantly promotes lung tumorigenesis. |
29632194 |
CBGDA |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Autoimmune Diseases |
Associate
|
26346816 |
| Bone Resorption |
Associate
|
21467819, 38139307 |
| Breast Neoplasms |
Associate
|
20416078, 26632898, 28915803, 32521854 |
| Carcinoma Giant Cell |
Associate
|
35697931 |
| Colorectal Neoplasms |
Associate
|
33795653 |
| Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia |
Associate
|
26951490, 37382551 |
| Giant Cell Tumor of Bone |
Associate
|
25193435, 36725001 |
| Growth Disorders |
Associate
|
26789720 |
| Heart Failure |
Associate
|
30557359 |
| Immune System Diseases |
Associate
|
37382551 |
| Immunologic Deficiency Syndromes |
Associate
|
26346816, 26789720 |
| Inflammation |
Associate
|
25778334, 26346816, 26632898 |
| Lupus Erythematosus Systemic |
Associate
|
26951490, 27390188 |
| Lymphatic Metastasis |
Associate
|
32521854 |
| Muscle Spasticity |
Associate
|
26346816 |
| Muscular dystrophy congenital with central nervous system involvement |
Associate
|
37382551 |
| Neoplasm Metastasis |
Associate
|
20416078, 28915803, 32521854 |
| Neoplasms |
Stimulate
|
25778334 |
| Neoplasms |
Associate
|
26632898, 28915803, 32521854, 33316803 |
| Nervous System Diseases |
Associate
|
26346816 |
| Osteitis Deformans |
Associate
|
19925894 |
| Osteopetrosis |
Associate
|
17997709 |
| Osteoporosis |
Associate
|
33715446, 39778696 |
| Pyle disease |
Associate
|
26346816 |
| Renal Insufficiency |
Associate
|
26789720 |
| Renal Insufficiency Chronic |
Associate
|
30557359 |
| Schimke immunoosseous dysplasia |
Associate
|
27390188, 32214327 |
| Schizophrenia |
Inhibit
|
36482464 |
| Sexual Dysfunction Physiological |
Stimulate
|
20499337 |
| Spondyloenchondrodysplasia |
Associate
|
26346816, 26789720, 26951490, 27390188, 30558059, 32214327, 37010587, 37382551 |
| Stomach Neoplasms |
Associate
|
33316803 |
|