Gene Gene information from NCBI Gene database.
Entrez ID 7262
Gene name Pleckstrin homology like domain family A member 2
Gene symbol PHLDA2
Synonyms (NCBI Gene)
BRW1CBWR1CHLDA2IPLTSSC3
Chromosome 11
Chromosome location 11p15.4
Summary This gene is located in a cluster of imprinted genes on chromosome 11p15.5, which is considered to be an important tumor suppressor gene region. Alterations in this region may be associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarco
miRNA miRNA information provided by mirtarbase database.
100
miRTarBase ID miRNA Experiments Reference
MIRT016330 hsa-miR-193b-3p Microarray 20304954
MIRT028418 hsa-miR-30a-5p Proteomics 18668040
MIRT029073 hsa-miR-26b-5p Microarray 19088304
MIRT031541 hsa-miR-16-5p Proteomics 18668040
MIRT700821 hsa-miR-6819-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0001890 Process Placenta development IBA
GO:0001890 Process Placenta development IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IEA
GO:0006915 Process Apoptotic process TAS 9328465
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602131 12385 ENSG00000181649
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q53GA4
Protein name Pleckstrin homology-like domain family A member 2 (Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene C protein) (Imprinted in placenta and liver protein) (Tumor-suppressing STF cDNA 3 protein) (Tumor-suppressing subchromosomal transferable f
Protein function Plays a role in regulating placenta growth. May act via its PH domain that competes with other PH domain-containing proteins, thereby preventing their binding to membrane lipids (By similarity).
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in placenta and adult prostate gland. In placenta, it is present in all cells of the villous cytotrophoblast. The protein is absent in cells from hydatidiform moles. Hydatidiform mole is a gestation characterized by abnormal
Sequence
MKSPDEVLREGELEKRSDSLFQLWKKKRGVLTSDRLSLFPASPRARPKELRFHSILKVDC
VERTGKYVYFTIVTTDHKEIDFRCAGESCWNAAIALALIDFQNRRALQDFRSRQERTAPA
APAEDAVAAAAAAPSEPSEPSRPSPQPKPRTP
Sequence length 152
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, NON-SMALL-CELL LUNG CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29285217
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 29660218
★☆☆☆☆
Found in Text Mining only
Apraxias Apraxia BEFREE 30282379
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 29157002
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 28619530, 30270514
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 10749982, 15691381
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 39300389 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 30092789 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 32385195 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37474643 Associate
★☆☆☆☆
Found in Text Mining only