Free for academic non-profit institutions. Other users need a Commercial license

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
  • RP11-1415C14.3 5
  • B55C20.2 3
  • SMA3 3

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.

No data available for Entrez Gene Summary , CIViC 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

Regulatory Elements for SMA4 Gene

Enhancers for SMA4 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
GH05G070287 0.2 Ensembl 0.7 +0.4 418 4.1 SMA4 GC05M070232
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SMA4 on UCSC Golden Path with GeneCards custom track

Genomic Location for SMA4 Gene

Chromosome:
5
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

Genes around SMA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 & Families 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

genes like me logo Genes that share phenotypes with SMA4: 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 SMA4 Gene

Localization for SMA4 Gene

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

Pathways & Interactions 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 and SIGNOR curated interactions for SMA4 Gene

Drugs & Compounds for SMA4 Gene

No Compound Related Data Available

Transcripts for SMA4 Gene

mRNA/cDNA for SMA4 Gene

(2) REFSEQ mRNAs :
(18) Additional mRNA sequences :
(148) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for SMA4 Gene

SOURCE GeneReport for Unigene cluster for SMA4 Gene:

Hs.582500
genes like me logo Genes that share expression patterns with SMA4: 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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
rs1002161201 -- 70,129,375(+) GGTTG(C/G)AGTGA intron-variant
rs1044302510 -- 70,129,325(+) AGCTA(C/T)TTGGG intron-variant
rs1052996312 -- 70,127,460(+) AACTT(A/T)ACCCC downstream-variant-500B
rs1057136214 -- 70,161,734(+) AACCT(C/T)CTTCT intron-variant
rs111565168 -- 70,219,633(+) TAAGA(C/T)AAGTA intron-variant, downstream-variant-500B, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv3310e59 CNV duplication 20981092
dgv3311e59 CNV duplication 20981092
dgv3312e59 CNV duplication 20981092
dgv3313e59 CNV duplication 20981092
dgv3314e59 CNV duplication 20981092
dgv5695n100 CNV gain 25217958
dgv5696n100 CNV loss 25217958
dgv5697n100 CNV gain+loss 25217958
dgv61n82 CNV duplication 23825009
dgv62n82 CNV duplication 23825009
dgv63n82 CNV duplication 23825009
dgv64n82 CNV duplication 23825009
dgv9838n54 CNV loss 21841781
dgv9841n54 CNV loss 21841781
dgv9842n54 CNV loss 21841781
dgv9843n54 CNV loss 21841781
dgv9844n54 CNV loss 21841781
dgv9845n54 CNV loss 21841781
dgv9846n54 CNV loss 21841781
esv22113 CNV gain+loss 19812545
esv2759348 CNV gain+loss 17122850
esv32787 CNV gain+loss 17666407
esv32846 CNV loss 17666407
esv3331906 CNV duplication 20981092
esv3374507 CNV duplication 20981092
esv3387243 CNV duplication 20981092
esv3388365 CNV duplication 20981092
esv3392589 CNV duplication 20981092
esv3393687 CNV duplication 20981092
esv3416115 CNV duplication 20981092
esv3423162 CNV duplication 20981092
esv3436941 CNV duplication 20981092
esv3444594 CNV duplication 20981092
esv3570183 CNV loss 25503493
esv3890639 CNV gain 25118596
esv3894209 CNV loss 25118596
nsv10707 CNV gain+loss 18304495
nsv1073889 CNV deletion 25765185
nsv1074838 CNV deletion 25765185
nsv1076582 CNV duplication 25765185
nsv1076583 CNV duplication 25765185
nsv1076585 CNV duplication 25765185
nsv1077457 CNV duplication 25765185
nsv1077458 CNV duplication 25765185
nsv1077459 CNV duplication 25765185
nsv1077460 CNV duplication 25765185
nsv1110443 CNV duplication 24896259
nsv1110444 CNV duplication 24896259
nsv1110445 CNV duplication 24896259
nsv1112878 CNV deletion 24896259
nsv1118734 CNV duplication 24896259
nsv1122106 CNV deletion 24896259
nsv1122107 CNV deletion 24896259
nsv1124914 CNV duplication 24896259
nsv1124915 CNV duplication 24896259
nsv1139839 CNV duplication 24896259
nsv1139840 CNV duplication 24896259
nsv1141485 CNV duplication 24896259
nsv1141486 CNV duplication 24896259
nsv1141487 CNV duplication 24896259
nsv1141488 CNV duplication 24896259
nsv1141489 CNV duplication 24896259
nsv1144109 CNV deletion 24896259
nsv1145061 CNV deletion 24896259
nsv428117 CNV gain+loss 18775914
nsv433371 CNV gain 18776910
nsv433372 CNV gain 18776910
nsv469703 CNV gain+loss 16826518
nsv471489 CNV gain 19718026
nsv471498 CNV gain 19718026
nsv508367 CNV deletion 20534489
nsv509067 CNV insertion 20534489
nsv511105 OTHER complex 20534489
nsv511274 CNV gain 21212237
nsv511292 CNV gain 21212237
nsv511294 CNV gain 21212237
nsv511308 CNV gain 21212237
nsv515024 CNV gain 21397061
nsv598448 CNV loss 21841781
nsv598462 CNV gain 21841781
nsv598470 CNV loss 21841781
nsv598471 CNV loss 21841781
nsv598473 CNV loss 21841781
nsv598477 CNV loss 21841781
nsv821218 CNV deletion 20802225
nsv821643 CNV loss 15273396
nsv830333 CNV gain 17160897
nsv830334 CNV gain 17160897
nsv830335 CNV gain 17160897
nsv950080 CNV duplication 24416366
nsv950081 CNV deletion 24416366
nsv950082 CNV duplication 24416366
nsv964873 CNV duplication 23825009
nsv964874 CNV duplication 23825009
nsv964875 CNV duplication 23825009
nsv964876 CNV duplication 23825009
nsv965019 CNV duplication 23825009
nsv965021 CNV duplication 23825009
nsv965022 CNV duplication 23825009
nsv965023 CNV duplication 23825009
nsv965024 CNV duplication 23825009
nsv968195 CNV duplication 23825009
nsv968197 CNV duplication 23825009
nsv968198 CNV duplication 23825009
nsv968313 CNV duplication 23825009
nsv968314 CNV duplication 23825009
nsv968321 CNV duplication 23825009
nsv968322 CNV duplication 23825009
nsv968925 CNV duplication 23825009
nsv968926 CNV duplication 23825009
nsv968927 CNV duplication 23825009
nsv968930 CNV duplication 23825009
nsv968931 CNV duplication 23825009
nsv969059 CNV duplication 23825009
nsv969060 CNV duplication 23825009
nsv969061 CNV duplication 23825009
nsv969062 CNV duplication 23825009
nsv969063 CNV duplication 23825009
nsv969065 CNV duplication 23825009
nsv969067 CNV duplication 23825009
nsv980659 CNV duplication 23825009
nsv980663 CNV duplication 23825009
nsv980664 CNV duplication 23825009
nsv980665 CNV duplication 23825009
nsv980667 CNV duplication 23825009
nsv980668 CNV duplication 23825009
nsv980800 CNV duplication 23825009
nsv980801 CNV duplication 23825009
nsv980802 CNV duplication 23825009
nsv980804 CNV duplication 23825009
nsv980805 CNV duplication 23825009

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Relevant External Links for SMA4 Gene

Disorders for SMA4 Gene

Relevant External Links for SMA4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMA4

No disorders were found for SMA4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SMA4 Gene

Publications for SMA4 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 64
  2. The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J. … Rubin E.M. (Nature 2004) 3 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 64
  4. 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 64
  5. Novel transcribed sequences represented in the complex genomic region 5q13. (PMID: 8764824) Morrison K.E. … Brookes A.J. (Biochim. Biophys. Acta 1996) 3 64

Products for SMA4 Gene

Sources for SMA4 Gene

Content
Loading form....