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Aliases for SAMD3 Gene

Aliases for SAMD3 Gene

  • Sterile Alpha Motif Domain Containing 3 2 3 5
  • SAM Domain-Containing Protein 3 4

External Ids for SAMD3 Gene

Previous GeneCards Identifiers for SAMD3 Gene

  • GC06M130446
  • GC06M130507
  • GC06M130465
  • GC06M128046

Summaries for SAMD3 Gene

GeneCards Summary for SAMD3 Gene

SAMD3 (Sterile Alpha Motif Domain Containing 3) is a Protein Coding gene.

Additional gene information for SAMD3 Gene

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 SAMD3 Gene

Genomics for SAMD3 Gene

GeneHancer (GH) Regulatory Elements for SAMD3 Gene

Promoters and enhancers for SAMD3 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
GH06I130364 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 560.2 -2.2 -2189 6.3 RB1 ARID4B KLF17 SIN3A RAD21 ZNF335 GLIS2 SCRT2 ZNF143 FOS SAMD3 TMEM200A LOC105378159 GC06M130284
GH06I130221 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 555.9 +142.3 142305 2.9 CTCF KLF1 JUNB EBF1 DPF2 BATF ZIC2 IRF4 IKZF1 ETV6 SAMD3 TMEM200A ENSG00000227678
GH06I130214 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 555.3 +149.5 149462 2 TCF12 IKZF1 HMBOX1 IKZF2 SAMD3 ENSG00000227678
GH06I130453 Enhancer 0.8 FANTOM5 ENCODE 25 -88.0 -88004 0.3 SRF JUND POLR2A JUNB FOS RUNX3 SAMD3 TMEM200A GC06M130284 GC06M130560
GH06I130600 Enhancer 1.2 FANTOM5 Ensembl ENCODE 14.9 -237.4 -237405 5.5 PKNOX1 JUN INSM2 FEZF1 BCL11B HIC1 ZNF366 POLR2A ZSCAN5C PRDM10 TMEM200A SAMD3 GC06P130596 ENSG00000229923
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SAMD3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SAMD3 gene promoter:

Genomic Locations for SAMD3 Gene

Genomic Locations for SAMD3 Gene
chr6:130,133,203-130,365,425
(GRCh38/hg38)
Size:
232,223 bases
Orientation:
Minus strand
chr6:130,465,460-130,686,570
(GRCh37/hg19)

Genomic View for SAMD3 Gene

Genes around SAMD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SAMD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SAMD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SAMD3 Gene

Proteins for SAMD3 Gene

  • Protein details for SAMD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N6K7-SAMD3_HUMAN
    Recommended name:
    Sterile alpha motif domain-containing protein 3
    Protein Accession:
    Q8N6K7
    Secondary Accessions:
    • B4DY20
    • E1P576
    • J3KQK4
    • Q4VXD8
    • Q8NAY1
    • Q8NB96

    Protein attributes for SAMD3 Gene

    Size:
    520 amino acids
    Molecular mass:
    61237 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SAMD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SAMD3 Gene

Post-translational modifications for SAMD3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SAMD3 Gene

Domains & Families for SAMD3 Gene

Gene Families for SAMD3 Gene

Protein Domains for SAMD3 Gene

Suggested Antigen Peptide Sequences for SAMD3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SAMD3: view

No data available for UniProtKB/Swiss-Prot for SAMD3 Gene

Function for SAMD3 Gene

Phenotypes From GWAS Catalog for SAMD3 Gene

Gene Ontology (GO) - Molecular Function for SAMD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23455924
genes like me logo Genes that share ontologies with SAMD3: view
genes like me logo Genes that share phenotypes with SAMD3: view

Animal Model Products

miRNA for SAMD3 Gene

miRTarBase miRNAs that target SAMD3

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SAMD3 Gene

Localization for SAMD3 Gene

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 SAMD3 gene
Compartment Confidence
mitochondrion 2
nucleus 2
cytosol 2
extracellular 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for SAMD3 Gene

Pathways & Interactions for SAMD3 Gene

SuperPathways for SAMD3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SAMD3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SAMD3 Gene

Drugs & Compounds for SAMD3 Gene

No Compound Related Data Available

Transcripts for SAMD3 Gene

Unigene Clusters for SAMD3 Gene

Sterile alpha motif domain containing 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SAMD3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - - - -
SP2:
SP3: -
SP4:
SP5:

Relevant External Links for SAMD3 Gene

GeneLoc Exon Structure for
SAMD3
ECgene alternative splicing isoforms for
SAMD3

Expression for SAMD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SAMD3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SAMD3 Gene

This gene is overexpressed in Whole Blood (x16.9) and Spleen (x4.6).

Protein differential expression in normal tissues from HIPED for SAMD3 Gene

This gene is overexpressed in Plasma (64.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SAMD3 Gene



Protein tissue co-expression partners for SAMD3 Gene

NURSA nuclear receptor signaling pathways regulating expression of SAMD3 Gene:

SAMD3

SOURCE GeneReport for Unigene cluster for SAMD3 Gene:

Hs.440508
genes like me logo Genes that share expression patterns with SAMD3: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SAMD3 Gene

Orthologs for SAMD3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SAMD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SAMD3 33 34
  • 99.42 (n)
cow
(Bos Taurus)
Mammalia SAMD3 33
  • 90.78 (n)
BT.47533 34
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SAMD3 33 34
  • 86.07 (n)
mouse
(Mus musculus)
Mammalia Samd3 33 16 34
  • 84.5 (n)
rat
(Rattus norvegicus)
Mammalia Samd3 33
  • 84.37 (n)
oppossum
(Monodelphis domestica)
Mammalia SAMD3 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SAMD3 34
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves SAMD3 33 34
  • 67.23 (n)
Species where no ortholog for SAMD3 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SAMD3 Gene

ENSEMBL:
Gene Tree for SAMD3 (if available)
TreeFam:
Gene Tree for SAMD3 (if available)

Paralogs for SAMD3 Gene

No data available for Paralogs for SAMD3 Gene

Variants for SAMD3 Gene

Sequence variations from dbSNP and Humsavar for SAMD3 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000028960 -- 130,349,550(-) A/T genic_upstream_transcript_variant, intron_variant
rs1000039284 -- 130,146,115(-) A/G coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1000041410 -- 130,175,264(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000045851 -- 130,259,559(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000048647 -- 130,238,127(-) T/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SAMD3 Gene

Variant ID Type Subtype PubMed ID
esv2658333 CNV deletion 23128226
esv2677571 CNV deletion 23128226
esv2803 CNV loss 18987735
esv3370223 CNV insertion 20981092
esv3610781 CNV gain 21293372
esv3610782 CNV loss 21293372
esv3610783 CNV loss 21293372
esv3610786 CNV loss 21293372
esv3610787 CNV loss 21293372
nsv1073589 CNV deletion 25765185
nsv1114870 CNV deletion 24896259
nsv1114871 CNV deletion 24896259
nsv1137150 CNV deletion 24896259
nsv1142018 OTHER inversion 24896259
nsv510050 OTHER sequence alteration 20534489
nsv604663 CNV gain 21841781
nsv955937 CNV deletion 24416366

Variation tolerance for SAMD3 Gene

Residual Variation Intolerance Score: 70% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.39; 42.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SAMD3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SAMD3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SAMD3 Gene

Disorders for SAMD3 Gene

Additional Disease Information for SAMD3

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

No disorders were found for SAMD3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SAMD3 Gene

Publications for SAMD3 Gene

  1. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson DF … Stefansson K (Nature genetics 2008) 3 44 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  4. A Y2H-seq approach defines the human protein methyltransferase interactome. (PMID: 23455924) Weimann M … Stelzl U (Nature methods 2013) 3 58
  5. Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans. (PMID: 23534349) Jeff JM … Crawford DC (Annals of human genetics 2013) 3 58

Products for SAMD3 Gene

Sources for SAMD3 Gene

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