Gene Gene information from NCBI Gene database.
Entrez ID 389072
Gene name Pleckstrin homology domain containing M3
Gene symbol PLEKHM3
Synonyms (NCBI Gene)
DAPRPLEKHM1L
Chromosome 2
Chromosome location 2q33.3
miRNA miRNA information provided by mirtarbase database.
675
miRTarBase ID miRNA Experiments Reference
MIRT050484 hsa-miR-20a-5p CLASH 23622248
MIRT045219 hsa-miR-186-5p CLASH 23622248
MIRT543651 hsa-miR-1277-5p HITS-CLIP 21572407
MIRT300272 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT543654 hsa-miR-511-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm ISS
GO:0005794 Component Golgi apparatus IEA
GO:0005794 Component Golgi apparatus ISS
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619186 34006 ENSG00000178385
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ZWE6
Protein name Pleckstrin homology domain-containing family M member 3 (PH domain-containing family M member 3) (Differentiation associated protein)
Protein function Involved in skeletal muscle differentiation. May act as a scaffold protein for AKT1 during muscle differentiation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 362 456 PH domain Domain
PF13901 zf-RING_9 529 730 Putative zinc-RING and/or ribbon Domain
Sequence
MEALEVDDISPALEVTEEFFSTLDSNLEKAVQQAEVYGIQEVPELVGHEVLSNITDNGAM
RNVTSLGKGGMIWDHCKSRLLETKAQNVFPAKEQFMVQRGTTPDNLSWMEQKEASTFNFF
NICQRRRDRPRSVNDLLDETSTFKPGHARSRSDITQVDWRVVLKTTPLQQQQQQQPLLQG
PHVTRPSFLLPSPNKIEDAQGNTEHKQTFPNILKKGYLEIRKDHDSYWQSCYAELSPYNL
YFYSLDSSGNQNLYATYQLSHFQSISVLGNLEARMVDTVLYDNTQLQLKAESPWEALDWG
QKLWEVVHAAVPGYMGRQNELTISPGLGHHDDYTQNHSFQKKTSGLLPPSPVLDSSKQYQ
NILKSGTLYRLTVQNNWKAFTFVLSRAYLMAFQPGKLDEDPLLSYNVDVCLAVQMDNLDG
CDSCFQVIFPQDVLRLRAETRQRAQEWMEALKIAAN
VARSSEQNLQVTLRNKPKDQMGGH
ELRKNKRQSVTTSFLSILTTLSLERGLTAQSFKCAGCQRSIGLSNGKAKVCNYSGWYYCS
SCHVDDSFLIPARIVHNWDTSKYKVSKQAKEFLEYVYEEPLIDIQQENAMLYHHAEPLAA
VLRLRQRLKSLRAYLFSCRAAVAEDLRRRIFPREYLLQQIHLYSLADLQQVIEGKLAPFL
GKVIKFATSHVYSCSLCSQKGFICEICNNGEILYPFEDISTSRCESCGAVFHSECKEKSV
PCPRCVRREL
QKKQKSFWQRLNMDESLEEACTMFELSYQNT
Sequence length 761
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
ENDOMETRIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID 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
Breast Neoplasms Breast neoplasm Pubtator 32526247 Associate
★☆☆☆☆
Found in Text Mining only
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease BEFREE 30669311
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease BEFREE 29725345
★☆☆☆☆
Found in Text Mining only
Lung Diseases, Interstitial Lung Diseases BEFREE 29237090, 30461626
★☆☆☆☆
Found in Text Mining only
melanoma Melanoma BEFREE 17278711, 31058016
★☆☆☆☆
Found in Text Mining only
Myasthenias Myasthenia Gravis BEFREE 30461626
★☆☆☆☆
Found in Text Mining only