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Aliases for SAMD12 Gene

Aliases for SAMD12 Gene

  • Sterile Alpha Motif Domain Containing 12 2 3 5
  • SAM Domain-Containing Protein 12 4

External Ids for SAMD12 Gene

Previous GeneCards Identifiers for SAMD12 Gene

  • GC08M119459
  • GC08M119270
  • GC08M114528
  • GC08M118190

Summaries for SAMD12 Gene

GeneCards Summary for SAMD12 Gene

SAMD12 (Sterile Alpha Motif Domain Containing 12) is a Protein Coding gene. GO annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is SAMD10.

Additional gene information for SAMD12 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 SAMD12 Gene

Genomics for SAMD12 Gene

Regulatory Elements for SAMD12 Gene

Enhancers for SAMD12 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
GH08H118621 0.9 ENCODE 22.9 +0.4 425 2.3 HDGF PKNOX1 SIN3A ZNF76 ZBTB40 ZNF143 ATF7 RUNX3 IKZF2 CREM SAMD12 SAMD12-AS1
GH08H118438 1.2 Ensembl ENCODE 13.8 +182.2 182162 2.9 PKNOX1 ARNT FEZF1 ZNF143 FOS RUNX3 JUNB TSHZ1 ZNF518A MAFF SAMD12 LOC105375724 GC08M118561 GC08M118294
GH08H118633 0.5 ENCODE 21.8 -13.2 -13165 2.4 IKZF1 FOS SPI1 SAMD12 RPS26P35
GH08H118614 0.7 FANTOM5 ENCODE 14 +6.9 6856 1.6 PKNOX1 NFE2 SAMD12 SAMD12-AS1 GC08M118561
GH08H118562 0.8 ENCODE 12.1 +57.1 57106 3.8 PKNOX1 TBL1XR1 RB1 BMI1 ATF7 RUNX3 IKZF2 CREM ZNF592 ZNF217 SAMD12 GC08M118561 SAMD12-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SAMD12 on UCSC Golden Path with GeneCards custom track

Promoters for SAMD12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000229304 195 1601 HDGF PKNOX1 SIN3A ZNF76 ZNF143 ATF7 RUNX3 IKZF2 CREM THAP11

Genomic Locations for SAMD12 Gene

Genomic Locations for SAMD12 Gene
chr8:118,131,828-118,621,995
(GRCh38/hg38)
Size:
490,168 bases
Orientation:
Minus strand
chr8:119,201,694-119,634,234
(GRCh37/hg19)

Genomic View for SAMD12 Gene

Genes around SAMD12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SAMD12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SAMD12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SAMD12 Gene

Proteins for SAMD12 Gene

  • Protein details for SAMD12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N8I0-SAM12_HUMAN
    Recommended name:
    Sterile alpha motif domain-containing protein 12
    Protein Accession:
    Q8N8I0
    Secondary Accessions:
    • Q0P502

    Protein attributes for SAMD12 Gene

    Size:
    201 amino acids
    Molecular mass:
    22907 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SAMD12 Gene

Post-translational modifications for SAMD12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SAMD12 Gene

Domains & Families for SAMD12 Gene

Gene Families for SAMD12 Gene

Protein Domains for SAMD12 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SAMD12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SAMD12: view

No data available for UniProtKB/Swiss-Prot for SAMD12 Gene

Function for SAMD12 Gene

Phenotypes From GWAS Catalog for SAMD12 Gene

Phenotypes for SAMD12 Gene

GenomeRNAi human phenotypes for SAMD12:
genes like me logo Genes that share phenotypes with SAMD12: view

miRNA for SAMD12 Gene

miRTarBase miRNAs that target SAMD12

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SAMD12 Gene

Localization for SAMD12 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 SAMD12 gene
Compartment Confidence
cytosol 4
nucleus 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for SAMD12 Gene

Pathways & Interactions for SAMD12 Gene

SuperPathways for SAMD12 Gene

No Data Available

Interacting Proteins for SAMD12 Gene

Gene Ontology (GO) - Biological Process for SAMD12 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SAMD12 Gene

Drugs & Compounds for SAMD12 Gene

No Compound Related Data Available

Transcripts for SAMD12 Gene

mRNA/cDNA for SAMD12 Gene

Unigene Clusters for SAMD12 Gene

Sterile alpha motif domain containing 12:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SAMD12 Gene

No ASD Table

Relevant External Links for SAMD12 Gene

GeneLoc Exon Structure for
SAMD12
ECgene alternative splicing isoforms for
SAMD12

Expression for SAMD12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SAMD12 Gene

mRNA differential expression in normal tissues according to GTEx for SAMD12 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.1).

Protein differential expression in normal tissues from HIPED for SAMD12 Gene

This gene is overexpressed in Plasma (49.5), Fetal Brain (13.0), and Frontal cortex (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SAMD12 Gene



Protein tissue co-expression partners for SAMD12 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SAMD12 Gene:

SAMD12

SOURCE GeneReport for Unigene cluster for SAMD12 Gene:

Hs.359393

Evidence on tissue expression from TISSUES for SAMD12 Gene

  • Nervous system(3.6)
  • Lung(2.8)
genes like me logo Genes that share expression patterns with SAMD12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SAMD12 Gene

Orthologs for SAMD12 Gene

This gene was present in the common ancestor of animals.

Orthologs for SAMD12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SAMD12 33 34
  • 98.93 (n)
cow
(Bos Taurus)
Mammalia SAMD12 33 34
  • 92.96 (n)
dog
(Canis familiaris)
Mammalia SAMD12 33 34
  • 92.72 (n)
mouse
(Mus musculus)
Mammalia Samd12 33 16 34
  • 89.86 (n)
rat
(Rattus norvegicus)
Mammalia Samd12 33
  • 87.01 (n)
oppossum
(Monodelphis domestica)
Mammalia SAMD12 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SAMD12 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves SAMD12 33 34
  • 76.25 (n)
lizard
(Anolis carolinensis)
Reptilia SAMD12 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia samd12 33
  • 67.1 (n)
zebrafish
(Danio rerio)
Actinopterygii samd12 33
  • 65.09 (n)
fruit fly
(Drosophila melanogaster)
Insecta ave 34
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 20 (a)
OneToMany
Species where no ortholog for SAMD12 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for SAMD12 Gene

ENSEMBL:
Gene Tree for SAMD12 (if available)
TreeFam:
Gene Tree for SAMD12 (if available)

Paralogs for SAMD12 Gene

Paralogs for SAMD12 Gene

(1) SIMAP similar genes for SAMD12 Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for SAMD12 Gene

genes like me logo Genes that share paralogs with SAMD12: view

Variants for SAMD12 Gene

Sequence variations from dbSNP and Humsavar for SAMD12 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000000142 -- 118,409,638(+) CACAG(A/G)CTTAA intron-variant
rs1000014615 -- 118,232,856(+) TGTGC(A/G)GTGGG intron-variant
rs1000015658 -- 118,367,891(+) AGAAT(C/G)ATGAG intron-variant
rs1000019838 -- 118,462,777(+) GTGTG(C/G)TAGGA intron-variant
rs1000021608 -- 118,535,696(+) CTCAG(A/C/G)CTGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SAMD12 Gene

Variant ID Type Subtype PubMed ID
nsv957691 CNV deletion 24416366
nsv8382 CNV gain 18304495
nsv8381 CNV loss 18304495
nsv8379 CNV gain 18304495
nsv831443 CNV gain 17160897
nsv831442 CNV loss 17160897
nsv831441 CNV gain 17160897
nsv821660 CNV loss 15273396
nsv6362 CNV deletion 18451855
nsv6361 CNV insertion 18451855
nsv612048 CNV loss 21841781
nsv612047 CNV gain 21841781
nsv519793 CNV loss 19592680
nsv516067 CNV loss 19592680
nsv510169 OTHER sequence alteration 20534489
nsv479184 CNV novel sequence insertion 20440878
nsv478141 CNV novel sequence insertion 20440878
nsv465786 CNV loss 19166990
nsv1128448 CNV deletion 24896259
nsv1076108 CNV deletion 25765185
esv8774 OTHER inversion 19470904
esv7068 CNV loss 19470904
esv3891469 CNV loss 25118596
esv3618575 CNV loss 21293372
esv3618573 CNV loss 21293372
esv3618572 CNV loss 21293372
esv3618571 CNV loss 21293372
esv3618570 CNV loss 21293372
esv3544096 CNV deletion 23714750
esv3428703 CNV insertion 20981092
esv3387155 CNV insertion 20981092
esv3379873 CNV insertion 20981092
esv3310005 CNV mobile element insertion 20981092
esv3303696 CNV mobile element insertion 20981092
esv3203 CNV loss 18987735
esv2737482 CNV deletion 23290073
esv2737481 CNV deletion 23290073
esv2661900 CNV deletion 23128226
esv25257 CNV gain 19812545
esv2499592 CNV insertion 19546169
esv2467119 CNV deletion 19546169
esv21710 CNV gain 19812545
esv1943293 CNV deletion 18987734
esv1928288 CNV deletion 18987734
esv1628861 CNV insertion 17803354
esv1337695 CNV deletion 17803354
dgv3892n106 CNV deletion 24896259

Variation tolerance for SAMD12 Gene

Residual Variation Intolerance Score: 71.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.20; 24.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SAMD12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SAMD12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SAMD12 Gene

Disorders for SAMD12 Gene

Relevant External Links for SAMD12

Genetic Association Database (GAD)
SAMD12
Human Genome Epidemiology (HuGE) Navigator
SAMD12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SAMD12

No disorders were found for SAMD12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SAMD12 Gene

Publications for SAMD12 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  2. Induction of IL-17 and nonclassical T-cell activation by HIV-Tat protein. (PMID: 23898208) Johnson TP … Nath A (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 60
  3. A genome-wide association study of brain lesion distribution in multiple sclerosis. (PMID: 23412934) Gourraud PA … Baranzini SE (Brain : a journal of neurology 2013) 3 60
  4. Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness. (PMID: 17903302) Levy D … Mitchell GF (BMC medical genetics 2007) 45 60
  5. Structured RNAs in the ENCODE selected regions of the human genome. (PMID: 17568003) Washietl S … Stadler PF (Genome research 2007) 3 60

Products for SAMD12 Gene

Sources for SAMD12 Gene

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