Gene Gene information from NCBI Gene database.
Entrez ID 79674
Gene name Ventricular zone expressed PH domain containing 1
Gene symbol VEPH1
Synonyms (NCBI Gene)
MELTVEPH
Chromosome 3
Chromosome location 3q25.31-q25.32
miRNA miRNA information provided by mirtarbase database.
63
miRTarBase ID miRNA Experiments Reference
MIRT755792 hsa-miR-23b-3p Luciferase reporter assayWestern blottingMicroarrayqRT-PCRELISA 34903122
MIRT1483936 hsa-miR-204 CLIP-seq
MIRT1483937 hsa-miR-211 CLIP-seq
MIRT1483938 hsa-miR-3164 CLIP-seq
MIRT1483939 hsa-miR-3177-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 30126976
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0009966 Process Regulation of signal transduction IBA
GO:0010314 Function Phosphatidylinositol-5-phosphate binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609594 25735 ENSG00000197415
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14D04
Protein name Ventricular zone-expressed PH domain-containing protein homolog 1 (Protein melted)
Protein function Interacts with TGF-beta receptor type-1 (TGFBR1) and inhibits dissociation of activated SMAD2 from TGFBR1, impeding its nuclear accumulation and resulting in impaired TGF-beta signaling. May also affect FOXO, Hippo and Wnt signaling. {ECO:000026
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 717 819 PH domain Domain
Sequence
MHQLFRLVLGQKDLSRAGDLFSLDDSEIEDSLTEALEQIKIISSSSDYQTNNNDQAVVEI
CITRITTAIRETESIEKHAKALVGLWDSCLEHNLRPFGKDEDTPHAKIASDIMSCILQNY
NRPPVMALAIPIAVKFLHRGNKELCRNMSNYLSLAAITKADLLADHTEVIVKSILQGNTM
LLRVLPAVYEKQPQPINRHLTELLALMSQLEQPEQYHLLRLLHVAAKKKQLEVVQKCIPF
LIGHLKDSTHNDIILNILIEIAVYEPVALNSFLPMLKEIGERFPYLTGQMARIYGAVGHV
DEERARSCLTYLVSQLANMEHSFHHILLLEIKSITDTFSSILGPQSRDIFRMSNSFTAIA
KLLTRQLENTKAGSGRRKISTEIEFPEKLEETKLIVTENEDHEKLQVKIQAFEDKINAGS
NTPGSIRRYSLGQVSKEERKNIRFNRSKSLAFHTMLTKGVGSDDGEDENRGDIPASISLS
EIDPLGQGNDKLPFKTDTERSQLGESSVSYPNIIHIDSENLSETVKENSQEETPETTASP
IEYQDKLYLHLKKNLSKVKAYAMEIGKKIPVPDQCTIEDTVRSCVAKLFFTCSLKGHYCL
YSKSSFILISQEPQPWIQIMFLFQQSLFPEPLSIQSHSVQFLRALWEKTQAGGAHSFETA
MMESTFPQQKDLDQVQLHLEEVRFFDVFGFSETAGAWQCFMCNNPEKATVVNQDGQPLIE
GKLKEKQVRWKFIKRWKTRYFTLAGNQLLFQKGKSKDDPDDCPIELSKVQSVKAVAKKRR
DRSLPRAFEIFTDNKTYVFKAKDEKNAEEWLQCINVAVA
QAKERESREVTTYL
Sequence length 833
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
FAMILIAL LONG QT SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION GWAS catalog
★★☆☆☆
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
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37997542 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 28301874
★☆☆☆☆
Found in Text Mining only
Cutaneous Melanoma Melanoma BEFREE 31599708
★☆☆☆☆
Found in Text Mining only
Diabetic Nephropathies Diabetic neuropathy Pubtator 28119515 Associate
★☆☆☆☆
Found in Text Mining only
Dyslexia Dyslexia Pubtator 33057169 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 39684661 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of ovary Ovarian cancer BEFREE 28301874
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 28301874, 31500637
★☆☆☆☆
Found in Text Mining only
melanoma Melanoma BEFREE 31599708
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 28301874
★☆☆☆☆
Found in Text Mining only