Gene Gene information from NCBI Gene database.
Entrez ID 9659
Gene name Phosphodiesterase 4D interacting protein
Gene symbol PDE4DIP
Synonyms (NCBI Gene)
CMYA2MMGL
Chromosome 1
Chromosome location 1q21.2
Summary The protein encoded by this gene serves to anchor phosphodiesterase 4D to the Golgi/centrosome region of the cell. Defects in this gene may be a cause of myeloproliferative disorder (MBD) associated with eosinophilia. Several transcript variants encoding
miRNA miRNA information provided by mirtarbase database.
156
miRTarBase ID miRNA Experiments Reference
MIRT052625 hsa-let-7a-5p CLASH 23622248
MIRT049067 hsa-miR-92a-3p CLASH 23622248
MIRT041047 hsa-miR-505-3p CLASH 23622248
MIRT717486 hsa-miR-3614-3p HITS-CLIP 19536157
MIRT717485 hsa-miR-1245a HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17923693, 21569246, 21900206, 25416956, 25910212, 26496610, 26871637, 27666745, 29162697, 29961565, 30021884, 31413325, 31515488, 32296183, 32353859, 32814053, 33060197, 33961781, 35271311, 36217030
GO:0005634 Component Nucleus IDA 11374908
GO:0005737 Component Cytoplasm IDA 11374908
GO:0005737 Component Cytoplasm IEA
GO:0005794 Component Golgi apparatus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608117 15580 ENSG00000178104
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VU43
Protein name Myomegalin (Cardiomyopathy-associated protein 2) (Phosphodiesterase 4D-interacting protein)
Protein function Functions as an anchor sequestering components of the cAMP-dependent pathway to Golgi and/or centrosomes (By similarity). ; [Isoform 13]: Participates in microtubule dynamics, promoting microtubule assemb
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07989 Cnn_1N 5 76 Centrosomin N-terminal motif 1 Coiled-coil
PF06758 Olduvai 1556 1623 Olduvai domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in adult and fetal heart, in skeletal muscle and, to a lower extent, in brain and placenta. {ECO:0000269|PubMed:11374908}.
Sequence
MSNGYRTLSQHLNDLKKENFSLKLRIYFLEERMQQKYEASREDIYKRNIELKVEVESLKR
ELQDKKQHLDKTWADV
ENLNSQNEAELRRQFEERQQETEHVYELLENKIQLLQEESRLAK
NEAARMAALVEAEKECNLELSEKLKGVTKNWEDVPGDQVKPDQYTEALAQRDKRIEELNQ
SLAAQERLVEQLSREKQQLLHLLEEPTSMEVQPMTEELLKQQKLNSHETTITQQSVSDSH
LAELQEKIQQTEATNKILQEKLNEMSYELKCAQESSQKQDGTIQNLKETLKSRERETEEL
YQVIEGQNDTMAKLREMLHQSQLGQLHSSEGTSPAQQQVALLDLQSALFCSQLEIQKLQR
VVRQKERQLADAKQCVQFVEAAAHESEQQKEASWKHNQELRKALQQLQEELQNKSQQLRA
WEAEKYNEIRTQEQNIQHLNHSLSHKEQLLQEFRELLQYRDNSDKTLEANEMLLEKLRQR
IHDKAVALERAIDEKFSALEEKEKELRQLRLAVRERDHDLERLRDVLSSNEATMQSMESL
LRAKGLEVEQLSTTCQNLQWLKEEMETKFSRWQKEQESIIQQLQTSLHDRNKEVEDLSAT
LLCKLGPGQSEIAEELCQRLQRKERMLQDLLSDRNKQVLEHEMEIQGLLQSVSTREQESQ
AAAEKLVQALMERNSELQALRQYLGGRDSLMSQAPISNQQAEVTPTGRLGKQTDQGSMQI
PSRDDSTSLTAKEDVSIPRSTLGDLDTVAGLEKELSNAKEELELMAKKERESQMELSALQ
SMMAVQEEELQVQAADMESLTRNIQIKEDLIKDLQMQLVDPEDIPAMERLTQEVLLLREK
VASVESQGQEISGNRRQQLLLMLEGLVDERSRLNEALQAERQLYSSLVKFHAHPESSERD
RTLQVELEGAQVLRSRLEEVLGRSLERLNRLETLAAIGGAAAGDDTEDTSTEFTDSIEEE
AAHHSHQQLVKVALEKSLATVETQNPSFSPPSPMGGDSNRCLQEEMLHLRAEFHQHLEEK
RKAEEELKELKAQIEEAGFSSVSHIRNTMLSLCLENAELKEQMGEAMSDGWEIEEDKEKG
EVMVETVVTKEGLSESSLQAEFRKLQGKLKNAHNIINLLKEQLVLSSKEGNSKLTPELLV
HLTSTIERINTELVGSPGKHQHQEEGNVTVRPFPRPQSLDLGATFTVDAHQLDNQSQPRD
PGPQSAFSLPGSTQHLRSQLSQCKQRYQDLQEKLLLSEATVFAQANELEKYRVMLTGESL
VKQDSKQIQVDLQDLGYETCGRSENEAEREETTSPECEEHNSLKEMVLMEGLCSEQGRRG
STLASSSERKPLENQLGKQEEFRVYGKSENILVLRKDIKDLKAQLQNANKVIQNLKSRVR
SLSVTSDYSSSLERPRKLRAVGTLEGSSPHSVPDEDEGWLSDGTGAFYSPGLQAKKDLES
LIQRVSQLEAQLPKNGLEEKLAEELRSASWPGKYDSLIQDQARELSYLRQKIREGRGICY
LITRHAKDTVKSFEDLLRSNDIDYYLGQSFREQLAQGSQLTERLTSKLSTKDHKSEKDQA
GLEPLALRLSRELQEKEKVIEVLQAKLDARSLTPSSSHALSDSHRSPSSTSFLSDELEAC
SDM
DIVSEYTHYEEKKASPSHSDSIHHSSHSAVLSSKPSSTSASQGAKAESNSNPISLPT
PQNTPKEANQAHSGFHFHSIPKLASLPQAPLPSAPSSFLPFSPTGPLLLGCCETPVVSLA
EAQQELQMLQKQLGESASTVPPASTATLLSNDLEADSSYYLNSAQPHSPPRGTIELGRIL
EPGYLGSSGKWDVMRPQKGSVSGDLSSGSSVYQLNSKPTGADLLEEHLGEIRNLRQRLEE
SICINDRLREQLEHRLTSTARGRGSTSNFYSQGLESIPQLCNENRVLREDNRRLQAQLSH
VSREHSQETESLREALLSSRSHLQELEKELEHQKVERQQLLEDLREKQQEVLHFREERLS
LQENDSRLQHKLVLLQQQCEEKQQLFESLQSELQIYEALYGNSKKGLKAYSLDACHQIPL
SSDLSHLVAEVRALRGQLEQSIQGNNCLRLQLQQQLESGAGKASLSPSSINQNFPASTDP
GNKQLLLQDSAVSPPVRDVGMNSPALVFPSSASSTPGSETPIINRANGLGLDTSPVMKTP
PKLEGDATDGSFANKHGRHVIGHIDDYSALRQQIAEGKLLVKKIVSLVRSACSFPGLEAQ
GTEVLGSKGIHELRSSTSALHHALEESASLLTMFWRAALPSTHIPVLPGKVGESTERELL
ELRTKVSKQERLLQSTTEHLKNANQQKESMEQFIVSQLTRTHDVLKKARTNLEVKSLRAL
PCTPAL
Sequence length 2346
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
CUTANEOUS MASTOCYTOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MACROVASCULAR COMPLICATIONS OF DIABETES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MASTOCYTOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma Associate 27513329
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of Lung Associate 27513329
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Associate 32471155
★☆☆☆☆
Found in Text Mining only
Arrhythmias Cardiac Associate 34289528
★☆☆☆☆
Found in Text Mining only
Asthma Associate 23046476
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Associate 34289528
★☆☆☆☆
Found in Text Mining only
Carcinoma Adenosquamous Associate 31958074
★☆☆☆☆
Found in Text Mining only
Carcinoma Basal Cell Associate 33928395
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 35602894
★☆☆☆☆
Found in Text Mining only
Carcinoma Merkel Cell Associate 25531179
★☆☆☆☆
Found in Text Mining only