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Aliases for SAMD4B Gene

Aliases for SAMD4B Gene

  • Sterile Alpha Motif Domain Containing 4B 2 3 5
  • Sterile Alpha Motif Domain-Containing Protein 4B 3 4
  • SAM Domain-Containing Protein 4B 3 4
  • Smaug 2 3 4
  • Smaug2 3 4
  • Smaug Homolog B (Drosophila) 2
  • Protein Smaug Homolog 2 3
  • Smaug Homolog B 3
  • HSmaug2 4
  • SMGB 3

External Ids for SAMD4B Gene

Previous GeneCards Identifiers for SAMD4B Gene

  • GC19P044525
  • GC19P039833
  • GC19P036279

Summaries for SAMD4B Gene

GeneCards Summary for SAMD4B Gene

SAMD4B (Sterile Alpha Motif Domain Containing 4B) is a Protein Coding gene. An important paralog of this gene is SAMD4A.

UniProtKB/Swiss-Prot for SAMD4B Gene

  • Has transcriptional repressor activity. Overexpression inhibits the transcriptional activities of AP-1, p53/TP53 and CDKN1A.

Additional gene information for SAMD4B Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SAMD4B Gene

Genomics for SAMD4B Gene

GeneHancer (GH) Regulatory Elements for SAMD4B Gene

Promoters and enhancers for SAMD4B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I039340 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 563.6 -0.2 -160 3.2 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZC3H11A SSRP1 ZNF610 SAMD4B ENSG00000269246 GMFG GC19P039341 HNRNPL FBL PSMC4 AKT2 RN7SL566P ENSG00000269688
GH19I039351 Promoter/Enhancer 1.5 EPDnew ENCODE dbSUPER 556.2 +10.0 10004 2.4 HDGF HDAC1 PKNOX1 ATF1 ARNT BATF IRF4 RFX5 SCRT2 ATF7 SAMD4B RPS16 SUPT5H ZFP36 PLEKHG2 PAK4 IFNL1 EID2B GMFG GC19P039349
GH19I039427 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.2 +89.8 89750 9.7 MLX ZFP64 DMAP1 IRF4 YY1 E2F8 ZNF416 ZNF143 SP3 NFYC RPS16 HNRNPL FBL ZNF780B AKT2 PLEKHG2 RN7SL566P SUPT5H ENSG00000269688 EID2B
GH19I039995 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 19.8 +654.9 654904 2.9 HDGF PKNOX1 SMAD1 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF546 GC19M039992 CYP2G1P SNRPA FBL ZNF780B SUPT5H FCGBP ENSG00000269843 PAK4
GH19I039397 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 15.1 +64.7 64679 20 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 ZFP36 PLEKHG2 HNRNPL ZNF780B FBL ZNF780A SUPT5H AKT2 RN7SL566P RPS16
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SAMD4B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SAMD4B gene promoter:

Genomic Locations for SAMD4B Gene

Genomic Locations for SAMD4B Gene
chr19:39,342,396-39,390,760
(GRCh38/hg38)
Size:
48,365 bases
Orientation:
Plus strand
chr19:39,833,036-39,876,350
(GRCh37/hg19)

Genomic View for SAMD4B Gene

Genes around SAMD4B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SAMD4B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SAMD4B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SAMD4B Gene

Proteins for SAMD4B Gene

  • Protein details for SAMD4B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5PRF9-SMAG2_HUMAN
    Recommended name:
    Protein Smaug homolog 2
    Protein Accession:
    Q5PRF9
    Secondary Accessions:
    • A5Z0M6
    • Q6P194

    Protein attributes for SAMD4B Gene

    Size:
    694 amino acids
    Molecular mass:
    75483 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SAMD4B Gene

Post-translational modifications for SAMD4B Gene

No Post-translational modifications

No data available for DME Specific Peptides for SAMD4B Gene

Domains & Families for SAMD4B Gene

Gene Families for SAMD4B Gene

Protein Domains for SAMD4B Gene

Graphical View of Domain Structure for InterPro Entry

Q5PRF9

UniProtKB/Swiss-Prot:

SMAG2_HUMAN :
  • Belongs to the SMAUG family.
Family:
  • Belongs to the SMAUG family.
genes like me logo Genes that share domains with SAMD4B: view

Function for SAMD4B Gene

Molecular function for SAMD4B Gene

UniProtKB/Swiss-Prot Function:
Has transcriptional repressor activity. Overexpression inhibits the transcriptional activities of AP-1, p53/TP53 and CDKN1A.

Phenotypes From GWAS Catalog for SAMD4B Gene

Gene Ontology (GO) - Molecular Function for SAMD4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,IEA 22681889
GO:0003729 mRNA binding IBA --
GO:0030371 translation repressor activity IBA --
genes like me logo Genes that share ontologies with SAMD4B: view
genes like me logo Genes that share phenotypes with SAMD4B: view

Animal Model Products

CRISPR Products

miRNA for SAMD4B Gene

miRTarBase miRNAs that target SAMD4B

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SAMD4B Gene

Localization for SAMD4B Gene

Subcellular locations from UniProtKB/Swiss-Prot for SAMD4B Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SAMD4B gene
Compartment Confidence
cytosol 5
nucleus 4
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SAMD4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000932 P-body IBA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with SAMD4B: view

Pathways & Interactions for SAMD4B Gene

SuperPathways for SAMD4B Gene

No Data Available

Gene Ontology (GO) - Biological Process for SAMD4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000289 nuclear-transcribed mRNA poly(A) tail shortening IBA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0017148 negative regulation of translation IBA --
GO:0043488 regulation of mRNA stability IBA --
genes like me logo Genes that share ontologies with SAMD4B: view

No data available for Pathways by source and SIGNOR curated interactions for SAMD4B Gene

Drugs & Compounds for SAMD4B Gene

No Compound Related Data Available

Transcripts for SAMD4B Gene

Unigene Clusters for SAMD4B Gene

Sterile alpha motif domain containing 4B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SAMD4B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b
SP1: -
SP2: - -
SP3:
SP4: -

Relevant External Links for SAMD4B Gene

GeneLoc Exon Structure for
SAMD4B
ECgene alternative splicing isoforms for
SAMD4B

Expression for SAMD4B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SAMD4B Gene

Protein differential expression in normal tissues from HIPED for SAMD4B Gene

This gene is overexpressed in Breast (16.8), Lung (14.8), and Bone marrow stromal cell (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SAMD4B Gene



NURSA nuclear receptor signaling pathways regulating expression of SAMD4B Gene:

SAMD4B

SOURCE GeneReport for Unigene cluster for SAMD4B Gene:

Hs.707137

mRNA Expression by UniProt/SwissProt for SAMD4B Gene:

Q5PRF9-SMAG2_HUMAN
Tissue specificity: Widely expressed in embryonic and adult tissues.

Evidence on tissue expression from TISSUES for SAMD4B Gene

  • Liver(4.4)
  • Heart(4.3)
  • Lung(4)
  • Nervous system(3.9)
  • Pancreas(3.7)
  • Kidney(2.9)
  • Eye(2.7)
  • Intestine(2.3)
  • Skin(2.3)
  • Stomach(2.2)
  • Muscle(2)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with SAMD4B: 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 tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SAMD4B Gene

Orthologs for SAMD4B Gene

This gene was present in the common ancestor of animals.

Orthologs for SAMD4B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SAMD4B 33 34
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia SAMD4B 33 34
  • 94.43 (n)
cow
(Bos Taurus)
Mammalia SAMD4B 33 34
  • 93.32 (n)
mouse
(Mus musculus)
Mammalia Samd4b 33 16 34
  • 92.92 (n)
rat
(Rattus norvegicus)
Mammalia Samd4b 33
  • 92.82 (n)
oppossum
(Monodelphis domestica)
Mammalia SAMD4B 34
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 50 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia SAMD4B 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia samd4b 33
  • 69.71 (n)
zebrafish
(Danio rerio)
Actinopterygii samd4b 33
  • 71.88 (n)
fruit fly
(Drosophila melanogaster)
Insecta smg 34
  • 12 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZC190.4 34
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7136 34
  • 49 (a)
OneToMany
Species where no ortholog for SAMD4B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SAMD4B Gene

ENSEMBL:
Gene Tree for SAMD4B (if available)
TreeFam:
Gene Tree for SAMD4B (if available)

Paralogs for SAMD4B Gene

Paralogs for SAMD4B Gene

genes like me logo Genes that share paralogs with SAMD4B: view

Variants for SAMD4B Gene

Sequence variations from dbSNP and Humsavar for SAMD4B Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000004715 -- 39,387,518(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000143167 -- 39,352,860(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000161518 -- 39,351,359(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant
rs1000213780 -- 39,375,509(+) G/T intron_variant
rs1000288087 -- 39,368,780(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SAMD4B Gene

Variant ID Type Subtype PubMed ID
nsv833830 CNV loss 17160897
nsv2480 CNV insertion 18451855
nsv1126522 CNV deletion 24896259
esv3583388 CNV loss 25503493
esv25791 CNV gain 19812545
dgv202n21 CNV loss 19592680

Variation tolerance for SAMD4B Gene

Residual Variation Intolerance Score: 4.71% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.71; 32.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SAMD4B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SAMD4B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SAMD4B Gene

Disorders for SAMD4B Gene

Additional Disease Information for SAMD4B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SAMD4B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SAMD4B Gene

Publications for SAMD4B Gene

  1. Mammalian Smaug is a translational repressor that forms cytoplasmic foci similar to stress granules. (PMID: 16221671) Baez MV … Boccaccio GL (The Journal of biological chemistry 2005) 2 3 4 58
  2. SAMD4B, a novel SAM-containing protein, inhibits AP-1-, p53- and p21-mediated transcriptional activity. (PMID: 20510020) Luo N … Wu X (BMB reports 2010) 3 4 58
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for SAMD4B Gene

Sources for SAMD4B Gene

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