Gene Gene information from NCBI Gene database.
Entrez ID 130271
Gene name Pleckstrin homology, MyTH4 and FERM domain containing H2
Gene symbol PLEKHH2
Synonyms (NCBI Gene)
PLEKHH1L
Chromosome 2
Chromosome location 2p21
miRNA miRNA information provided by mirtarbase database.
353
miRTarBase ID miRNA Experiments Reference
MIRT018517 hsa-miR-335-5p Microarray 18185580
MIRT023913 hsa-miR-1-3p Microarray 18668037
MIRT045121 hsa-miR-186-5p CLASH 23622248
MIRT719211 hsa-miR-483-3p HITS-CLIP 19536157
MIRT719210 hsa-miR-6777-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IBA
GO:0003779 Function Actin binding IEA
GO:0003779 Function Actin binding ISS
GO:0005515 Function Protein binding IPI 25416956, 28514442, 32296183, 33961781
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612723 30506 ENSG00000152527
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IVE3
Protein name Pleckstrin homology domain-containing family H member 2
Protein function In the kidney glomerulus may play a role in linking podocyte foot processes to the glomerular basement membrane. May be involved in stabilization of F-actin by attenuating its depolymerization. Can recruit TGFB1I1 from focal adhesions to podocyt
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 704 797 PH domain Domain
PF00784 MyTH4 1000 1109 MyTH4 domain Family
PF00373 FERM_M 1226 1354 FERM central domain Domain
Tissue specificity TISSUE SPECIFICITY: Kidney. Reduced expression in patients with focal segmental glomerulosclerosis. {ECO:0000269|PubMed:22832517}.
Sequence
MAELSEPEGPVDWKERCVALESQLMKFRVQASKIRELLAEKMQQLERQVIDAERQAEKAF
QQVQVMEDKLKAANIQTSESETRLYNKCQDLESLIQEKDDVIQNLELQLEEQKQIRIQEA
KIIEEKAAKIKEWVTVKLNELELENQNLRLINQNQTEEIRTMQSKLQEVQGKKSSTVSTL
KLSEGQRLSSLTFGCFLSRARSPPQVVKSEEMSKISSKEPEFTEGKDMEEMEIPEKSVDN
QVLENNRGQRTLHQTPCGSEQNRKTRTSFATDGGISQNSGAPVSDWSSDEEDGSKGRSKS
RCTSTLSSHTSEEGVQCSRMGSEMYLTASDDSSSIFEEETFGIKRPEHKKLYSWQQEAQW
KALNSPLGKGNSELSKKEQDSSSDELNKKFQSQRLDYSSSSSEANTPSPILTPALMPKHP
NSLSGKGTQLVPSSHLPPPKLRIPNVFSISVALAKRHLSQPQLSSDRMFGTNRNAISMIR
PLRPQETDLDLVDGDSTEVLENMDTSCDDGLFSYDSLDSPNSDDQEHCDSAKKVAYSKPP
TPPLHRFPSWESRIYAVAKSGIRMSEAFNMESVNKNSAATLSYTTSGLYTSLIYKNMTTP
VYTTLKGKATQISSSPFLDDSSGSEEEDSSRSSSRTSESDSRSRSGPGSPRAMKRGVSLS
SVASESDYAIPPDAYSTDTEYSQPEQKLPKTCSSSSDNGKNEPLEKSGYLLKMSGKVKSW
KRRWFVLKGGELLYYKSPSDVIRKPQGHIELSASCSILRGDNKQTVQLTTEKHTYYLTAD
SPNILEEWIKVLQNVLR
VQAANPLSLQPEGKPTMKGLLTKVKHGYSKRVWCTLIGKTLYY
FRSQEDKFPLGQIKLWEAKVEEVDRSCDSDEDYEASGRSLLSTHYTIVIHPKDQGPTYLL
IGSKHEKDTWLYHLTVAAGSNNVNVGSEFEQLVCKLLNIDGEPSSQIWRHPTLCHSKEGI
ISPLTTLPSEALQTEAIKLFKTCQLFINAAVDSPAIDYHISLAQSALQICLTHPELQNEI
CCQLIKQTRRRQPQNQPGPLQGWQLLALCVGLFLPHHPFLWLLRLHLKRNADSRTEFGKY
AIYCQRCVERTQQNGDREARPSRMEILST
LLRNPYHHSLPFSIPVHFMNGIYQVVGFDAS
TTVEEFLNTLNQDTGMRKPAQSGFALFTDDPSGRDLEHCLQGNIKICDIISKWEQASKEQ
QPGKCEGTRTVRLTYKNRLYFSVQARGETDREKLLLMYQTNDQIINGLFPLNKDLALEMA
ALLSQVEIGDFERPFSTPAGHVTNQCKVNQTLKQVIEKFYPKRYRDGCSEEQLRQLCQRL
STRWMALRGHSAADCVRIYLTVARKWPFFGAKLF
LAKPITPSSLGSTFLWLAVHEDGLSL
LEYNSMRLIVSYVYKSLMTFGGYQDDFMVVINNTHSKDKPTEKLLFAMAKPKILEITLLI
ASYINNFHQQKAAFHHLSAPALLSAQTRGPQARMMGSQPLLSSSRPTKGPTLL
Sequence length 1493
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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
CHOLELITHIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE 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
Diabetes Diabetes GWASCAT_DG 27670767
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus GWASCAT_DG 27670767
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy Diabetic Nephropathy BEFREE 18752002
★☆☆☆☆
Found in Text Mining only
Diabetic Nephropathy Diabetic Nephropathy LHGDN 18752002
★☆☆☆☆
Found in Text Mining only
Focal glomerulosclerosis Glomerulosclerosis BEFREE 22832517
★☆☆☆☆
Found in Text Mining only
Hypertensive disease Hypertension GWASCAT_DG 27670767
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 36209201 Associate
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Lymphatic metastasis Pubtator 36209201 Stimulate
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia Pubtator 31959813 Associate
★☆☆☆☆
Found in Text Mining only
Venous Thromboembolism Venous thromboembolism Pubtator 29117201 Associate
★☆☆☆☆
Found in Text Mining only