Gene Gene information from NCBI Gene database.
Entrez ID 79990
Gene name Pleckstrin homology, MyTH4 and FERM domain containing H3
Gene symbol PLEKHH3
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17q21.2
miRNA miRNA information provided by mirtarbase database.
16
miRTarBase ID miRNA Experiments Reference
MIRT018704 hsa-miR-335-5p Microarray 18185580
MIRT049030 hsa-miR-92a-3p CLASH 23622248
MIRT1242352 hsa-miR-3647-3p CLIP-seq
MIRT1242353 hsa-miR-3653 CLIP-seq
MIRT1242354 hsa-miR-3658 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
GO ID Ontology Definition Evidence Reference
GO:0005615 Component Extracellular space HDA 22664934
GO:0005856 Component Cytoskeleton IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z736
Protein name Pleckstrin homology domain-containing family H member 3 (PH domain-containing family H member 3)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00784 MyTH4 285 398 MyTH4 domain Family
PF00788 RA 406 493 Ras association (RalGDS/AF-6) domain Domain
PF00373 FERM_M 506 664 FERM central domain Domain
Sequence
MPLPGGLWWLLCCRRGFTLLHRDYGDGELSGDGDEDEDEETFELRTPSPAGGGRGPLEVT
LTQPVRSGPVSNRLQSWEETWSLIPEKGLPEDDPDIVVKGWLYREPRGGGARPWLPPRRA
WFVLTRDSLDQFSSSGKGARRLGSLVLTSLCSVTGPERRRKETGLWSVTVSGRKHSVRLC
SPRQAEAERWGVALREVIASKAPLETPTQLLLRDIQESCGDPEAVALIYLRNPILRHTSG
ALYAPLLPLPYGVSAPGPGYAPLREEAVRLFLALQALEGARRPGPLMQGVLQTCRDLPAL
RDELFLQLAKQTSGPAGPPGLPATQDPAALRYWQLLTCMSCTFRPGGAVRGHLLGHLERT
EQALPDSELAEYARFIRKALGRTRGRELVPSLAEISAL
SQRQELLCTVHCPGAGACAVAI
DSHTTAGEVARELVGRLGLARSRNAFALYEQRGAQERALAGGTLVADVLTRFENLAAEEA
GLEDSPDSGWRLC
LRLHGPLHPEGLSPDGHELPFLFEQAHALLLRGRPPPPDDTLRALAA
LRLQSLQRDFSPRVPLPRLDRLLPPPAPPREDPPRPTPRPPPSAALLAGALWSPGLAKRR
AERARRGGAGRTAGSIAREGGGGAGTAAAVLGGWKRLRGMGRAEAMAAYLALAAQCPGFG
AARY
DVLELSTEPGRGAPQKLCLGLGAKAMSLSRPGETEPIHSVSYGHVAACQLMGPHTL
ALRVGESQLLLQSPQVEEIMQLVNAYLANPSPERPCSSSSPPCQDLPDTSPPSQRPGLDE
PQGQSGCLGQLQD
Sequence length 793
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
CATARACT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TONSILLITIS 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
Malignant neoplasm of prostate Prostate cancer BEFREE 26585945
★☆☆☆☆
Found in Text Mining only
Prostate carcinoma Prostate cancer BEFREE 26585945
★☆☆☆☆
Found in Text Mining only
Sleep Apnea Obstructive Sleep apnea Pubtator 28520763 Associate
★☆☆☆☆
Found in Text Mining only