Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
171024
Gene name Gene Name - the full gene name approved by the HGNC.
Synaptopodin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SYNPO2
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q26
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016748 hsa-miR-335-5p Microarray 18185580
MIRT437627 hsa-miR-150-5p Microarray, qRT-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 assay, Immunoprecipitaion (IP) 35592920
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IEA
GO:0001725 Component Stress fiber IBA 21873635
GO:0001725 Component Stress fiber IDA 20554076, 23434281
GO:0003779 Function Actin binding IBA 21873635
GO:0005515 Function Protein binding IPI 21643011, 23434281
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
620941 17732 ENSG00000172403
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Ovarian cancer Epithelial ovarian cancer rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828
View all (31 more)
25581431
Unknown
Disease term Disease name Evidence References Source
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Carcinogenesis Associate 19360353
Carcinoma Ovarian Epithelial Associate 28231729
Colorectal Neoplasms Associate 22252522
Death Associate 27592258
Inflammation Associate 37605453
Kidney Neoplasms Associate 27592258
Lung Neoplasms Associate 30177858
Muscular Atrophy Associate 38201288
Myopathies Nemaline Associate 38201288
Nasopharyngeal Carcinoma Associate 37505159