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Aliases for SMA4 Gene

Aliases for SMA4 Gene

  • Glucuronidase, Beta Pseudogene 3
  • Putative Beta-Glucuronidase-Like Protein MGC156142 3
  • Beta-Glucuronidase-Like Protein SMA4 3
  • B55C20.2 3
  • PPSC9 6
  • SMA3 3
  • HC9 6

External Ids for SMA4 Gene

Previous GeneCards Identifiers for SMA4 Gene

  • GC05U990086
  • GC05P069421
  • GC05M069258
  • GC05M069550
  • GC05M069470
  • GC05M069504

Summaries for SMA4 Gene

GeneCards Summary for SMA4 Gene

SMA4 (Glucuronidase, Beta Pseudogene) is a Pseudogene. Diseases associated with SMA4 include spinal muscular atrophy-1 and spinal muscular atrophy-2.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMA4 Gene

Genomics for SMA4 Gene

Genomic Location for SMA4 Gene

Start:
70,127,462 bp from pter
End:
70,290,177 bp from pter
Size:
162,716 bases
Orientation:
Minus strand

Genomic View for SMA4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SMA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMA4 Gene

No data available for Regulatory Elements for SMA4 Gene

Proteins for SMA4 Gene

Post-translational modifications for SMA4 Gene

No Post-translational modifications

No data available for DME Specific Peptides for SMA4 Gene

Domains for SMA4 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for SMA4 Gene

Function for SMA4 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for SMA4 Gene

Localization for SMA4 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMA4 Gene COMPARTMENTS Subcellular localization image for SMA4 gene
Compartment Confidence
extracellular 3
lysosome 3
cytosol 1
nucleus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for SMA4 Gene

Pathways for SMA4 Gene

SuperPathways for SMA4 Gene

No Data Available

Interacting Proteins for SMA4 Gene

Gene Ontology (GO) - Biological Process for SMA4 Gene

None

No data available for Pathways by source for SMA4 Gene

Transcripts for SMA4 Gene

mRNA/cDNA for SMA4 Gene

Unigene Clusters for SMA4 Gene

Glucuronidase, beta pseudogene:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SMA4 Gene

No ASD Table

Relevant External Links for SMA4 Gene

GeneLoc Exon Structure for
SMA4

Expression for SMA4 Gene

mRNA expression in normal human tissues for SMA4 Gene

SOURCE GeneReport for Unigene cluster for SMA4 Gene Hs.582500

genes like me logo Genes that share expressions with SMA4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein expression and mRNA Expression by UniProt/SwissProt for SMA4 Gene

Orthologs for SMA4 Gene

Evolution for SMA4 Gene

ENSEMBL:
Gene Tree for SMA4 (if available)
TreeFam:
Gene Tree for SMA4 (if available)

No data available for Orthologs for SMA4 Gene

Paralogs for SMA4 Gene

No data available for Paralogs for SMA4 Gene

Variants for SMA4 Gene

Sequence variations from dbSNP and Humsavar for SMA4 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs33571 -- 70,166,162(+) GGAAG(C/T)TAGAT intron-variant
rs1650377 -- 70,163,576(+) CTTCT(C/G)TCCTA intron-variant
rs2528427 -- 70,134,975(+) gccag(C/T)catgt intron-variant
rs2576883 -- 70,181,897(+) AGCAT(G/T)TCAAG intron-variant
rs3872907 -- 70,220,791(+) ttttt(C/T)cgctt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMA4 Gene

Variant ID Type Subtype PubMed ID
nsv821643 CNV Loss 15273396
nsv881768 CNV Loss 21882294
nsv428117 CNV Gain+Loss 18775914
dgv6086n71 CNV Gain 21882294
nsv10707 CNV Gain+Loss 18304495
esv32846 CNV Loss 17666407
esv22113 CNV Gain+Loss 19812545
nsv433371 CNV Gain 18776910
dgv6087n71 CNV Loss 21882294
nsv881779 CNV Loss 21882294
dgv6090n71 CNV Loss 21882294
dgv1804e1 CNV Complex 17122850
dgv1805e1 CNV Complex 17122850
dgv1806e1 CNV Complex 17122850
dgv6092n71 CNV Gain 21882294
dgv6093n71 CNV Loss 21882294
nsv508367 CNV Loss 20534489
dgv6094n71 CNV Loss 21882294
dgv6095n71 CNV Gain 21882294
dgv6100n71 CNV Gain 21882294
dgv6101n71 CNV Loss 21882294
dgv6102n71 CNV Loss 21882294
dgv6106n71 CNV Loss 21882294
esv32787 CNV Gain+Loss 17666407
nsv881890 CNV Loss 21882294
nsv881899 CNV Gain 21882294
nsv511308 CNV Gain 21212237
nsv881904 CNV Loss 21882294
nsv471489 CNV Duplication 19718026
nsv511105 CNV Complex 20534489
dgv6112n71 CNV Loss 21882294
nsv881906 CNV Gain 21882294
nsv881907 CNV Gain 21882294
dgv1807e1 CNV Complex 17122850
dgv6113n71 CNV Loss 21882294
nsv433372 CNV Gain 18776910
nsv881911 CNV Loss 21882294
dgv6114n71 CNV Loss 21882294
nsv515024 CNV Complex 21397061
nsv881916 CNV Gain 21882294
nsv511294 CNV Gain 21212237
dgv6115n71 CNV Loss 21882294
dgv6116n71 CNV Gain+Loss 21882294
dgv6117n71 CNV Loss 21882294
nsv881924 CNV Gain+Loss 21882294
dgv6118n71 CNV Gain 21882294

Relevant External Links for SMA4 Gene

HapMap Linkage Disequilibrium report
SMA4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMA4 Gene

Disorders for SMA4 Gene

genes like me logo Genes that share disorders with SMA4: view

No data available for UniProtKB/Swiss-Prot for SMA4 Gene

Publications for SMA4 Gene

  1. A rearrangement on chromosome 5 of an expressed human beta-glucuronidase pseudogene. (PMID: 7894161) Sargent C.A. … Affara N.A. (Mamm. Genome 1994) 3
  2. Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atropy gene in 5q13. (PMID: 7977382) Theodosiou A.M. … Davies K.E. (Am. J. Hum. Genet. 1994) 3
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  5. The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J. … Rubin E.M. (Nature 2004) 3

Products for SMA4 Gene

Sources for SMA4 Gene

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