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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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around SMA5 on UCSC Golden Path with GeneCards custom track

Genomic Location for SMA5 Gene

Chromosome:
5
Start:
70,481,043 bp from pter
End:
70,585,722 bp from pter
Size:
104,680 bases
Orientation:
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

Animal Model Products

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

None

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
SMA5

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 , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
rs390599 -- 70,525,758(-) AATGG(G/T)ATAAT intron-variant
rs28726322 -- 70,493,168(+) AGGCC(C/G)GGCGC intron-variant
rs28782014 -- 70,549,437(+) AAGGG(C/T)TAATA intron-variant
rs28857541 -- 70,548,990(+) AATGG(A/G)ACAGA intron-variant
rs2568369 -- 70,550,641(-) ATATA(C/T)ACACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMA5 Gene

Variant ID Type Subtype PubMed ID
dgv3315e59 CNV duplication 20981092
dgv3316e59 CNV duplication 20981092
dgv3317e59 CNV duplication 20981092
dgv3318e59 CNV duplication 20981092
dgv3319e59 CNV duplication 20981092
dgv3320e59 CNV duplication 20981092
dgv3321e59 CNV duplication 20981092
dgv5695n100 CNV gain 25217958
dgv5696n100 CNV loss 25217958
dgv5697n100 CNV gain+loss 25217958
dgv9838n54 CNV loss 21841781
dgv9844n54 CNV loss 21841781
dgv9845n54 CNV loss 21841781
dgv9854n54 CNV loss 21841781
esv22113 CNV gain+loss 19812545
esv2759348 CNV gain+loss 17122850
esv32787 CNV gain+loss 17666407
esv3362037 CNV duplication 20981092
esv3362856 CNV duplication 20981092
esv3401324 CNV duplication 20981092
esv3406682 CNV duplication 20981092
esv3410968 CNV duplication 20981092
esv3411587 CNV duplication 20981092
esv3451936 CNV duplication 20981092
esv3570183 CNV loss 25503493
esv3890643 CNV loss 25118596
nsv10707 CNV gain+loss 18304495
nsv1073465 CNV deletion 25765185
nsv1076586 CNV duplication 25765185
nsv1077991 CNV duplication 25765185
nsv1078555 CNV duplication 25765185
nsv1110446 CNV duplication 24896259
nsv1115693 CNV duplication 24896259
nsv1115694 CNV duplication 24896259
nsv1115695 CNV duplication 24896259
nsv1124916 CNV duplication 24896259
nsv1124917 CNV duplication 24896259
nsv1137528 CNV deletion 24896259
nsv428117 CNV gain+loss 18775914
nsv433371 CNV gain 18776910
nsv471489 CNV gain 19718026
nsv508367 CNV deletion 20534489
nsv511106 OTHER inversion 20534489
nsv511297 CNV gain 21212237
nsv598462 CNV gain 21841781
nsv598523 CNV loss 21841781
nsv598533 CNV loss 21841781
nsv598534 CNV gain 21841781
nsv598535 CNV loss 21841781
nsv598536 CNV gain 21841781
nsv598539 CNV loss 21841781
nsv598541 CNV gain 21841781
nsv598542 CNV loss 21841781
nsv7371 OTHER inversion 18451855
nsv820942 CNV deletion 20802225
nsv821643 CNV loss 15273396
nsv830336 CNV gain 17160897
nsv964878 CNV duplication 23825009
nsv964879 CNV duplication 23825009
nsv964880 CNV duplication 23825009
nsv964882 CNV duplication 23825009
nsv964883 CNV duplication 23825009
nsv965032 CNV duplication 23825009
nsv965033 CNV duplication 23825009
nsv965034 CNV duplication 23825009
nsv965035 CNV duplication 23825009
nsv968199 CNV duplication 23825009
nsv968201 CNV duplication 23825009
nsv968203 CNV duplication 23825009
nsv968325 CNV duplication 23825009
nsv968326 CNV duplication 23825009
nsv968328 CNV duplication 23825009
nsv968932 CNV duplication 23825009
nsv968933 CNV duplication 23825009
nsv968934 CNV duplication 23825009
nsv968935 CNV duplication 23825009
nsv968936 CNV duplication 23825009
nsv969071 CNV duplication 23825009
nsv969073 CNV duplication 23825009
nsv980670 CNV duplication 23825009
nsv980671 CNV duplication 23825009
nsv980672 CNV duplication 23825009
nsv980810 CNV duplication 23825009

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 65
  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 65
  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 65
  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 65
  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 65

Products for SMA5 Gene

Sources for SMA5 Gene

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