Gene Gene information from NCBI Gene database.
Entrez ID 65979
Gene name Phosphatase and actin regulator 4
Gene symbol PHACTR4
Synonyms (NCBI Gene)
PPP1R124
Chromosome 1
Chromosome location 1p35.3
Summary This gene encodes a member of the phosphatase and actin regulator (PHACTR) family. Other PHACTR family members have been shown to inhibit protein phosphatase 1 (PP1) activity, and the homolog of this gene in the mouse has been shown to interact with actin
miRNA miRNA information provided by mirtarbase database.
1337
miRTarBase ID miRNA Experiments Reference
MIRT020099 hsa-miR-361-5p Sequencing 20371350
MIRT027757 hsa-miR-98-5p Microarray 19088304
MIRT049161 hsa-miR-92a-3p CLASH 23622248
MIRT041759 hsa-miR-484 CLASH 23622248
MIRT041759 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0001755 Process Neural crest cell migration IBA
GO:0001755 Process Neural crest cell migration IEA
GO:0001755 Process Neural crest cell migration ISS
GO:0001843 Process Neural tube closure IEA
GO:0001843 Process Neural tube closure ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608726 25793 ENSG00000204138
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IZ21
Protein name Phosphatase and actin regulator 4
Protein function Regulator of protein phosphatase 1 (PP1) required for neural tube and optic fissure closure, and enteric neural crest cell (ENCCs) migration during development. Acts as an activator of PP1 by interacting with PPP1CA and preventing phosphorylatio
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02755 RPEL 64 87 RPEL repeat Disordered
PF02755 RPEL 584 607 RPEL repeat Disordered
PF02755 RPEL 622 645 RPEL repeat Disordered
Sequence
MEDPFEEADQPTTEPGMVLDSVEAGDTTPPTKRKSKFSGFGKIFKPWKWRKKKSSDKFKE
TSEVLERKISMRKPREELVKRGVLLEDPEQGGEDPGKPSDAMLKNGHTTPIGNARSSSPV
QVEEEPVRLASLRKAIPEEDLKKRLGSTGSQPNSEAESVPENVPKPPLLPPKRPLSSSHE
ASEGQAKDATSSGGTARFIISTSITTAPAATTAATSLAKTVNLSVTPSPAPRTLPAAPAS
TNTTATPSLTHMVPAKQPPIPPPKPAHRNSNPVIAELSQAINSGTLLSKPSPPLPPKRGI
PSTSVPTLESAAAITTKTPSDEREKSTCSMGSELLPMISPRSPSPPLPTHIPPEPPRTPP
FPAKTFQVVPEIEFPPSLDLHQEIPQQEDQKKEVPKRILDQNFGEPHIPSRLPPLPLHIR
IQQALTSPLPMTPILEGSHRAHSLLFENSDSFSEDSSTLGRTRSLPITIEMLKVPDDEEE
EEQTCPSTFSEEMTPTSVIPKLPQCLREEEEKESDSDSEGPIQYRDEEDEDESYQSALAN
KVKRKDTLAMKLNHRPSEPELNLNSWPCKSKEEWNEIRHQIGNTLIRRLSQRPTPEELEQ
RNILQPK
NEADRQAEKREIKRRLTRKLSQRPTVAELLARKILRFNEYVEVTDAQDYDRRA
DKPWTKLTPADKAAIRKELNEFKSSEMEVHEESKHFTRYHRP
Sequence length 702
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Carcinoma Hepatocellular Inhibit 27608898
★☆☆☆☆
Found in Text Mining only
Cleft Palate Associate 40012205
★☆☆☆☆
Found in Text Mining only
Congenital Abnormalities Associate 40012205
★☆☆☆☆
Found in Text Mining only
Diabetic Nephropathies Associate 38043109
★☆☆☆☆
Found in Text Mining only
Fetal Alcohol Spectrum Disorders Associate 40012205
★☆☆☆☆
Found in Text Mining only
Growth Disorders Associate 40012205
★☆☆☆☆
Found in Text Mining only
Hearing Loss Associate 40012205
★☆☆☆☆
Found in Text Mining only
Inflammation Associate 38043109
★☆☆☆☆
Found in Text Mining only
Intrauterine Growth Retardation Metaphyseal Dysplasia Adrenal Hypoplasia Congenita And Genital Anomalies Associate 40012205
★☆☆☆☆
Found in Text Mining only
Kidney Diseases Associate 38043109
★☆☆☆☆
Found in Text Mining only