Human Gene SYNPO (ENST00000307662.5_6) from GENCODE V47lift37
  Description: synaptopodin, transcript variant 1 (from RefSeq NM_007286.6)
Gencode Transcript: ENST00000307662.5_6
Gencode Gene: ENSG00000171992.13_9
Transcript (Including UTRs)
   Position: hg19 chr5:150,020,222-150,038,769 Size: 18,548 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr5:150,027,838-150,036,649 Size: 8,812 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:150,020,222-150,038,769)mRNA (may differ from genome)Protein (903 aa)
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-  Comments and Description Text from UniProtKB
  ID: SYNPO_HUMAN
DESCRIPTION: RecName: Full=Synaptopodin;
FUNCTION: Actin-associated protein that may play a role in modulating actin-based shape and motility of dendritic spines and renal podocyte foot processes. Seems to be essential for the formation of spine apparatuses in spines of telencephalic neurons, which is involved in synaptic plasticity (By similarity).
SUBUNIT: Interacts with BAIAP1. Interacts with actin (By similarity). Interacts (via PPxY motifs) with WWC1 (via WW domains).
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (By similarity). Cell junction, tight junction (By similarity). Perikaryon (By similarity). Cell projection, dendritic spine (By similarity). Cell junction, synapse, postsynaptic cell membrane, postsynaptic density (By similarity). Cell junction, synapse (By similarity). Note=Localized at the tight junction of cells. In brain, localized to the postsynaptic densities and in the perikarya. Associated with dendritic spines of a subset of synapses (By similarity).
TISSUE SPECIFICITY: Expressed in cerebral cortex.
PTM: O-glycosylated (By similarity).
PTM: Isoform 2 is phosphorylated on Ser-826, Thr-836, Ser-840 and Ser-871.
SIMILARITY: Belongs to the synaptopodin family.
SEQUENCE CAUTION: Sequence=BAA82981.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SYNPO
Diseases sorted by gene-association score: focal segmental glomerulosclerosis (13), nephrosclerosis (11), galloway-mowat syndrome (10), crescentic glomerulonephritis (10), pauci-immune glomerulonephritis (8), wilms tumor susceptibility-5 (7), lipoid nephrosis (5), nephrotic syndrome (5), acute proliferative glomerulonephritis (4), urinary system disease (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 169.74 RPKM in Muscle - Skeletal
Total median expression: 1428.62 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -220.30527-0.418 Picture PostScript Text
3' UTR -783.902120-0.370 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  ModBase Predicted Comparative 3D Structure on Q8N3V7
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005515 protein binding

Biological Process:
GO:0008542 visual learning
GO:0032233 positive regulation of actin filament bundle assembly
GO:0048169 regulation of long-term neuronal synaptic plasticity
GO:0051492 regulation of stress fiber assembly
GO:0098886 modification of dendritic spine
GO:1905355 spine apparatus assembly

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005923 bicellular tight junction
GO:0014069 postsynaptic density
GO:0015629 actin cytoskeleton
GO:0016020 membrane
GO:0030018 Z disc
GO:0030054 cell junction
GO:0042995 cell projection
GO:0043197 dendritic spine
GO:0043204 perikaryon
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:0097444 spine apparatus


-  Descriptions from all associated GenBank mRNAs
  AL831818 - Homo sapiens mRNA; cDNA DKFZp451G172 (from clone DKFZp451G172).
AK127049 - Homo sapiens cDNA FLJ45106 fis, clone BRAWH3033293, highly similar to Synaptopodin.
AM392825 - Synthetic construct Homo sapiens clone IMAGE:100002335 for hypothetical protein (SYNPO gene).
AM393443 - Synthetic construct Homo sapiens clone IMAGE:100002334 for hypothetical protein (SYNPO gene).
AK290178 - Homo sapiens cDNA FLJ77489 complete cds, highly similar to Homo sapiens mRNA for synaptopodin.
BC042624 - Homo sapiens synaptopodin, mRNA (cDNA clone IMAGE:5177952), partial cds.
BC146665 - Homo sapiens synaptopodin, mRNA (cDNA clone MGC:164896 IMAGE:40148077), complete cds.
BC152538 - Homo sapiens synaptopodin, mRNA (cDNA clone IMAGE:8862524), partial cds.
AB028952 - Homo sapiens KIAA1029 mRNA for KIAA1029 protein.
BC142683 - Homo sapiens synaptopodin, mRNA (cDNA clone MGC:164973 IMAGE:40148430), complete cds.
AF499137 - Homo sapiens brain synaptopodin mRNA, complete cds.
AF499136 - Homo sapiens kidney synaptopodin mRNA, complete cds.
JD164418 - Sequence 145442 from Patent EP1572962.
JD342685 - Sequence 323709 from Patent EP1572962.
JD384334 - Sequence 365358 from Patent EP1572962.
JD276476 - Sequence 257500 from Patent EP1572962.
JD205683 - Sequence 186707 from Patent EP1572962.
JD457035 - Sequence 438059 from Patent EP1572962.
JD387815 - Sequence 368839 from Patent EP1572962.
JD497589 - Sequence 478613 from Patent EP1572962.
JD107400 - Sequence 88424 from Patent EP1572962.
JD369166 - Sequence 350190 from Patent EP1572962.
JD519987 - Sequence 501011 from Patent EP1572962.
JD107073 - Sequence 88097 from Patent EP1572962.
JD118915 - Sequence 99939 from Patent EP1572962.
JD124015 - Sequence 105039 from Patent EP1572962.
AB384087 - Synthetic construct DNA, clone: pF1KSDA1029, Homo sapiens SYNPO gene for synaptopodin, complete cds, without stop codon, in Flexi system.
Y11072 - Homo sapiens mRNA for synaptopodin.
JD389278 - Sequence 370302 from Patent EP1572962.
JD054325 - Sequence 35349 from Patent EP1572962.
JD121721 - Sequence 102745 from Patent EP1572962.
JD390090 - Sequence 371114 from Patent EP1572962.
JD507192 - Sequence 488216 from Patent EP1572962.
JD173124 - Sequence 154148 from Patent EP1572962.
JD294372 - Sequence 275396 from Patent EP1572962.
JD077622 - Sequence 58646 from Patent EP1572962.
JD457835 - Sequence 438859 from Patent EP1572962.
AL049959 - Homo sapiens mRNA; cDNA DKFZp564K1023 (from clone DKFZp564K1023).
JD195548 - Sequence 176572 from Patent EP1572962.
JD489484 - Sequence 470508 from Patent EP1572962.
JD205526 - Sequence 186550 from Patent EP1572962.
JD103515 - Sequence 84539 from Patent EP1572962.
JD137345 - Sequence 118369 from Patent EP1572962.
JD175109 - Sequence 156133 from Patent EP1572962.
JD041765 - Sequence 22789 from Patent EP1572962.
AL049298 - Homo sapiens mRNA; cDNA DKFZp564P143 (from clone DKFZp564P143).
JD275958 - Sequence 256982 from Patent EP1572962.
JD176353 - Sequence 157377 from Patent EP1572962.
JD258702 - Sequence 239726 from Patent EP1572962.
JD163408 - Sequence 144432 from Patent EP1572962.
JD314275 - Sequence 295299 from Patent EP1572962.
JD165157 - Sequence 146181 from Patent EP1572962.
JD086541 - Sequence 67565 from Patent EP1572962.
JD023249 - Sequence 4273 from Patent EP1572962.
JD264475 - Sequence 245499 from Patent EP1572962.
JD172817 - Sequence 153841 from Patent EP1572962.
JD537231 - Sequence 518255 from Patent EP1572962.
JD027696 - Sequence 8720 from Patent EP1572962.
JD241371 - Sequence 222395 from Patent EP1572962.
JD288016 - Sequence 269040 from Patent EP1572962.
JD468108 - Sequence 449132 from Patent EP1572962.
JD468628 - Sequence 449652 from Patent EP1572962.
JD272673 - Sequence 253697 from Patent EP1572962.
JD379473 - Sequence 360497 from Patent EP1572962.
JD130393 - Sequence 111417 from Patent EP1572962.
JD226799 - Sequence 207823 from Patent EP1572962.
JD469128 - Sequence 450152 from Patent EP1572962.
JD193415 - Sequence 174439 from Patent EP1572962.
JD133198 - Sequence 114222 from Patent EP1572962.
JD093849 - Sequence 74873 from Patent EP1572962.
JD159953 - Sequence 140977 from Patent EP1572962.
JD295764 - Sequence 276788 from Patent EP1572962.
JD546643 - Sequence 527667 from Patent EP1572962.
JD060032 - Sequence 41056 from Patent EP1572962.
JD066649 - Sequence 47673 from Patent EP1572962.
JD136954 - Sequence 117978 from Patent EP1572962.
JD136955 - Sequence 117979 from Patent EP1572962.
JD283747 - Sequence 264771 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A5PKZ8, D3DQG8, ENST00000307662.1, ENST00000307662.2, ENST00000307662.3, ENST00000307662.4, KIAA1029, NM_007286, O15271, Q8N3V7, Q9UPX1, SYNPO_HUMAN, uc317ocy.1, uc317ocy.2
UCSC ID: ENST00000307662.5_6
RefSeq Accession: NM_007286.6
Protein: Q8N3V7 (aka SYNPO_HUMAN or SYPO_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.