Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
130271
Gene name Gene Name - the full gene name approved by the HGNC.
Pleckstrin homology, MyTH4 and FERM domain containing H2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PLEKHH2
Synonyms (NCBI Gene) Gene synonyms aliases
PLEKHH1L
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p21
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612723 30506 ENSG00000152527
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alopecia Areata Alopecia areata N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Diabetes Type 2 diabetes mellitus adjusted for BMI or coronary artery disease (pleiotropy) N/A N/A GWAS
Inflammatory Bowel Disease Inflammatory bowel disease (MTAG) N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Non Small Cell Lung Stimulate 36209201
Diabetes Mellitus Insulin Dependent 19 Associate 27670767
Lung Neoplasms Associate 36209201
Lymphatic Metastasis Stimulate 36209201
Schizophrenia Associate 31959813
Venous Thromboembolism Associate 29117201