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Aliases for SMA5 Gene

Aliases for SMA5 Gene

  • Glucuronidase, Beta Pseudogene 3

External Ids for SMA5 Gene

Previous GeneCards Identifiers for SMA5 Gene

  • GC05U990087
  • GC05M069848
  • GC05M069812
  • GC05M069776

Summaries for SMA5 Gene

GeneCards Summary for SMA5 Gene

SMA5 (Glucuronidase, Beta Pseudogene) is a Pseudogene.

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 SMA5 Gene

Genomics for SMA5 Gene

Regulatory Elements for SMA5 Gene

Enhancers for SMA5 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SMA5 on UCSC Golden Path with GeneCards custom track

Genomic Location for SMA5 Gene

70,481,043 bp from pter
70,585,722 bp from pter
104,680 bases
Minus strand

Genomic View for SMA5 Gene

Genes around SMA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMA5 Gene

Proteins for SMA5 Gene

Post-translational modifications for SMA5 Gene

No Post-translational modifications

No data available for DME Specific Peptides for SMA5 Gene

Domains & Families for SMA5 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 SMA5 Gene

Function for SMA5 Gene

genes like me logo Genes that share phenotypes with SMA5: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SMA5 Gene

Localization for SMA5 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for SMA5 Gene

Pathways & Interactions for SMA5 Gene

SuperPathways for SMA5 Gene

No Data Available

Interacting Proteins for SMA5 Gene

Gene Ontology (GO) - Biological Process for SMA5 Gene


No data available for Pathways by source and SIGNOR curated interactions for SMA5 Gene

Drugs & Compounds for SMA5 Gene

No Compound Related Data Available

Transcripts for SMA5 Gene

mRNA/cDNA for SMA5 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :

Unigene Clusters for SMA5 Gene

Glucuronidase, beta pseudogene:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SMA5 Gene

No ASD Table

Relevant External Links for SMA5 Gene

GeneLoc Exon Structure for

Expression for SMA5 Gene

mRNA expression in normal human tissues for SMA5 Gene

SOURCE GeneReport for Unigene cluster for SMA5 Gene Hs.529793

genes like me logo Genes that share expression patterns with SMA5: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for SMA5 Gene

Orthologs for SMA5 Gene

No data available for Orthologs and Evolution for SMA5 Gene

Paralogs for SMA5 Gene

No data available for Paralogs for SMA5 Gene

Variants for SMA5 Gene

Sequence variations from dbSNP and Humsavar for SMA5 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs2666665 -- 70,549,665(-) tcctg(A/G)ctttt intron-variant
rs1133279 -- 70,500,887(-) TACCA(G/T)ATCTC nc-transcript-variant
rs1169540 -- 70,546,797(-) ACTAA(A/C)AGGTT intron-variant
rs1169544 -- 70,545,207(-) GAAGA(A/G)TGAAG intron-variant
rs390599 -- 70,525,758(-) AATGG(G/T)ATAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMA5 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
esv22113 CNV Gain+Loss 19812545
nsv433371 CNV Gain 18776910
dgv1805e1 CNV Complex 17122850
dgv1806e1 CNV Complex 17122850
nsv508367 CNV Loss 20534489
esv32787 CNV Gain+Loss 17666407
nsv471489 CNV Duplication 19718026
nsv881907 CNV Gain 21882294
dgv1807e1 CNV Complex 17122850
nsv881916 CNV Gain 21882294
dgv6129n71 CNV Loss 21882294
nsv511106 OTHER Inversion 20534489
nsv7371 OTHER Inversion 18451855
nsv483061 CNV Complex 15286789
nsv881982 CNV Gain 21882294
nsv820942 CNV Deletion 20802225
dgv6131n71 CNV Loss 21882294
dgv6132n71 CNV Loss 21882294
nsv881986 CNV Gain 21882294
nsv511297 CNV Gain 21212237
nsv830336 CNV Gain 17160897
dgv6133n71 CNV Loss 21882294
nsv881989 CNV Loss 21882294

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Relevant External Links for SMA5 Gene

Disorders for SMA5 Gene

No disorders were found for SMA5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for SMA5 Gene

Publications for SMA5 Gene

  1. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PMID: 15146197) Brandenberger R. … Stanton L.W. (Nat. Biotechnol. 2004) 3 67
  2. 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
  3. Localization by fluorescence in situ hybridization of the human functional beta-glucuronidase gene (GUSB) to 7q11.21 --> q11.22 and two pseudogenes to 5p13 and 5q13. (PMID: 8565635) Speleman F. … Lissens W. (Cytogenet. Cell Genet. 1996) 3
  4. 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
  5. Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes. (PMID: 7680524) Shipley J.M. … Sly W.S. (Am. J. Hum. Genet. 1993) 3

Products for SMA5 Gene

Sources for SMA5 Gene