Gene Gene information from NCBI Gene database.
Entrez ID 9050
Gene name Proline-serine-threonine phosphatase interacting protein 2
Gene symbol PSTPIP2
Synonyms (NCBI Gene)
MAYP
Chromosome 18
Chromosome location 18q21.1|tdb7990
miRNA miRNA information provided by mirtarbase database.
498
miRTarBase ID miRNA Experiments Reference
MIRT029008 hsa-miR-26b-5p Microarray 19088304
MIRT030448 hsa-miR-24-3p Microarray 19748357
MIRT1271231 hsa-miR-10a CLIP-seq
MIRT1271232 hsa-miR-10b CLIP-seq
MIRT1271233 hsa-miR-1827 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IEA
GO:0005856 Component Cytoskeleton IEA
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616046 9581 ENSG00000152229
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H939
Protein name Proline-serine-threonine phosphatase-interacting protein 2 (PEST phosphatase-interacting protein 2)
Protein function Binds to F-actin. May be involved in regulation of the actin cytoskeleton (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00611 FCH 20 93 Fes/CIP4, and EFC/F-BAR homology domain Family
Sequence
MTRSLFKGNFWSADILSTIGYDNIIQHLNNGRKNCKEFEDFLKERAAIEERYGKDLLNLS
RKKPCGQSEINTLKRALEVFKQQVDNVAQCHIQ
LAQSLREEARKMEEFREKQKLQRKKTE
LIMDAIHKQKSLQFKKTMDAKKNYEQKCRDKDEAEQAVSRSANLVNPKQQEKLFVKLATS
KTAVEDSDKAYMLHIGTLDKVREEWQSEHIKACEAFEAQECERINFFRNALWLHVNQLSQ
QCVTSDEMYEQVRKSLEMCSIQRDIEYFVNQRKTGQIPPAPIMYENFYSSQKNAVPAGKA
TGPNLARRGPLPIPKSSPDDPNYSLVDDYSLLYQ
Sequence length 334
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
SYNOVITIS, ACNE, PUSTULOSIS, HYPEROSTOSIS, AND OSTEITIS SYNDROME Disgenet
★★☆☆☆
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
Arteriosclerosis Arteriosclerosis BEFREE 27573188
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 31325437
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 27573188
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 27573188 Associate
★☆☆☆☆
Found in Text Mining only
Cherubism Cherubism BEFREE 17762617
★☆☆☆☆
Found in Text Mining only
Fibrosis, Liver Liver Fibrosis BEFREE 29993036
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 37864090 Associate
★☆☆☆☆
Found in Text Mining only
Majeed syndrome Majeed Syndrome BEFREE 17762617, 20032092
★☆☆☆☆
Found in Text Mining only
Osteomyelitis Osteomyelitis BEFREE 27148834, 29912021
★☆☆☆☆
Found in Text Mining only
Osteopenia Osteopenia BEFREE 31325437
★☆☆☆☆
Found in Text Mining only