Gene Gene information from NCBI Gene database.
Entrez ID 171024
Gene name Synaptopodin 2
Gene symbol SYNPO2
Synonyms (NCBI Gene)
-
Chromosome 4
Chromosome location 4q26
miRNA miRNA information provided by mirtarbase database.
373
miRTarBase ID miRNA Experiments Reference
MIRT016748 hsa-miR-335-5p Microarray 18185580
MIRT437627 hsa-miR-150-5p MicroarrayqRT-PCR 22815788
MIRT449307 hsa-miR-144-5p PAR-CLIP 22100165
MIRT449307 hsa-miR-144-5p PAR-CLIP 22100165
MIRT756056 hsa-miR-103a-3p Luciferase reporter assayImmunoprecipitaion (IP) 35592920
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0001725 Component Stress fiber IBA
GO:0001725 Component Stress fiber IDA 20554076, 23434281
GO:0003779 Function Actin binding IBA
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 21643011, 23434281
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620941 17732 ENSG00000172403
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UMS6
Protein name Synaptopodin-2 (Genethonin-2) (Myopodin)
Protein function Has an actin-binding and actin-bundling activity. Can induce the formation of F-actin networks in an isoform-specific manner (PubMed:23225103, PubMed:24005909). At the sarcomeric Z lines is proposed to act as adapter protein that links nascent m
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 7 85 PDZ domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in heart muscle. Isoform 5 is specifically expressed in skeletal muscle. {ECO:0000269|PubMed:11297942, ECO:0000269|PubMed:20554076}.
Sequence
MGTGDFICISMTGGAPWGFRLQGGKEQKQPLQVAKIRNQSKASGSGLCEGDEVVSINGNP
CADLTYPEVIKLMESITDSLQMLIK
RPSSGISEALISENENKNLEHLTHGGYVESTTLQI
RPATKTQCTEFFLAPVKTEVPLAENQRSGPDCAGSLKEETGPSYQRAPQMPDSQRGRVAE
ELILREKVEAVQPGPVVELQLSLSQERHKGASGPLVALPGAEKSKSPDPDPNLSHDRIVH
INSIPTNEKADPFLRSSKIIQISSGRELRVIQESEAGDAGLPRVEVILDCSDRQKTEGCR
LQAGKECVDSPVEGGQSEAPPSLVSFAVSSEGTEQGEDPRSEKDHSRPHKHRARHARLRR
SESLSEKQVKEAKSKCKSIALLLTDAPNPNSKGVLMFKKRRRRARKYTLVSYGTGELERE
ADEEEEGDKEDTCEVAFLGASESEVDEELLSDVDDNTQVVNFDWDSGLVDIEKKLNRGDK
MEMLPDTTGKGALMFAKRRERMDQITAQKEEDKVGGTPSREQDAAQTDGLRTTTSYQRKE
EESVRTQSSVSKSYIEVSHGLGHVPQQNGFSGTSETANIQRMVPMNRTAKPFPGSVNQPA
TPFSPTRNMTSPIADFPAPPPYSAVTPPPDAFSRGVSSPIAGPAQPPPWPQPAPWSQPAF
YDSSERIASRDERISVPAKRTGILQEAKRRSTTKPMFTFKEPKVSPNPELLSLLQNSEGK
RGTGAGGDSGPEEDYLSLGAEACNFMQSSSAKQKTPPPVAPKPAVKSSSSQPVTPVSPVW
SPGVAPTQPPAFPTSNPSKGTVVSSIKIAQPSYPPARPASTLNVAGPFKGPQAAVASQNY
TPKPTVSTPTVNAVQPGAVGPSNELPGMSGRGAQLFAKRQSRMEKYVVDSDTVQAHAARA
QSPTPSLPASWKYSSNVRAPPPVAYNPIHSPSYPLAALKSQPSAAQPSKMGKKKGKKPLN
ALDVMKHQPYQLNASLFTFQPPDAKDGLPQKSSVKVNSALAMKQALPPRPVNAASPTNVQ
ASSVYSVPAYTSPPSFFAEASSPVSASPVPVGIPTSPKQESASSSYFVAPRPKFSAKKSG
VTIQVWKPSVVEE
Sequence length 1093
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Cytoskeleton in muscle cells  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, OVARIAN EPITHELIAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA 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
Asthma Asthma BEFREE 23967269
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28991374, 30038517
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 19360353 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 30177858
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 28231729 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 25581431, 28231729
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma CTD_human_DG 25581431
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases Cardiovascular Diseases BEFREE 27470516
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 22252522 Associate
★☆☆☆☆
Found in Text Mining only
Epithelial ovarian cancer Ovarian cancer BEFREE 25581431, 28231729
★☆☆☆☆
Found in Text Mining only