Aliases for SAMD12 Gene

Aliases for SAMD12 Gene

  • Sterile Alpha Motif Domain Containing 12 2 3 5
  • Sterile Alpha Motif Domain-Containing Protein 12 3 4
  • SAM Domain-Containing Protein 12 3 4
  • FLJ39458 2
  • SAMD12 5

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. Diseases associated with SAMD12 include Epilepsy, Familial Adult Myoclonic, 1 and Familial Adult Myoclonic Epilepsy. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is SAMD10.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SAMD12 Gene

Genomics for SAMD12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SAMD12 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
GH08J118620 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 622.8 +0.4 410 2.6 CREB1 PRDM10 BACH1 LARP7 ZNF143 PATZ1 ZNF740 IKZF2 RCOR1 GTF2F1 SAMD12 SAMD12-AS1 lnc-EXT1-7 MAL2 EXT1
GH08J118621 Enhancer 0.3 ENCODE 600.7 +1.8 1780 0.1 ZBTB40 SAMD12 SAMD12-AS1 lnc-EXT1-7 lnc-TNFRSF11B-4 EXT1
GH08J118438 Enhancer 1 Ensembl ENCODE 13.8 +182.2 182211 4.2 CREB1 PRDM10 ZNF629 ZNF692 BACH1 PRDM1 ZSCAN4 IKZF2 ATF7 EED SAMD12 MED30 ENSG00000225885 piR-57461-263 piR-61240-287 lnc-EXT1-7 EXT1
GH08J118633 Enhancer 0.6 Ensembl ENCODE 21.8 -13.1 -13060 2.5 FOS SPI1 IKZF1 SAMD12 SAMD12-AS1 lnc-SAMD12-1 TNFRSF11B
GH08J118562 Enhancer 1 Ensembl ENCODE 12.1 +57.2 57222 3.8 BACH1 STAT3 TCF12 IKZF2 RCOR1 TRIM22 PKNOX1 EED MNT ARID3A lnc-TNFRSF11B-4 SAMD12 SAMD12-AS1 lnc-EXT1-7 EXT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SAMD12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SAMD12

Top Transcription factor binding sites by QIAGEN in the SAMD12 gene promoter:
  • AP-1
  • C/EBPbeta
  • CREB
  • deltaCREB
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx6-1
  • Pax-4a

Genomic Locations for SAMD12 Gene

Genomic Locations for SAMD12 Gene
chr8:118,131,825-118,622,112
(GRCh38/hg38)
Size:
490,288 bases
Orientation:
Minus strand
chr8:119,201,694-119,634,234
(GRCh37/hg19)
Size:
432,541 bases
Orientation:
Minus strand

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

Other Protein References for SAMD12 Gene

No data available for DME Specific Peptides for SAMD12 Gene

Domains & Families for SAMD12 Gene

Gene Families for SAMD12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SAMD12 Gene

InterPro:
Blocks:
  • Sterile alpha motif SAM
ProtoNet:

Suggested Antigen Peptide Sequences for SAMD12 Gene

GenScript: Design optimal peptide antigens:
  • Sterile alpha motif domain-containing protein 12 (SAM12_HUMAN)
genes like me logo Genes that share domains with SAMD12: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SAMD12 Gene

Function for SAMD12 Gene

Phenotypes From GWAS Catalog for SAMD12 Gene

Gene Ontology (GO) - Molecular Function for SAMD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with SAMD12: view

Phenotypes for SAMD12 Gene

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

Human Phenotype Ontology for SAMD12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for SAMD12 Gene

miRTarBase miRNAs that target SAMD12

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SAMD12

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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 3
nucleus 2
golgi apparatus 2
cytoskeleton 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for SAMD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with SAMD12: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for SAMD12 Gene

Pathways & Interactions for SAMD12 Gene

PathCards logo

SuperPathways for SAMD12 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SAMD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with SAMD12: view

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

4 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SAMD12

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

No ASD Table

Relevant External Links for SAMD12 Gene

GeneLoc Exon Structure for
SAMD12

Expression for SAMD12 Gene

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



Protein tissue co-expression partners for SAMD12 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SAMD12

SOURCE GeneReport for Unigene cluster for SAMD12 Gene:

Hs.359393

mRNA Expression by UniProt/SwissProt for SAMD12 Gene:

Q8N8I0-SAM12_HUMAN
Tissue specificity: Expressed in the brain.

Evidence on tissue expression from TISSUES for SAMD12 Gene

  • Nervous system(3.9)
  • 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 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 30 31
  • 98.93 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SAMD12 30 31
  • 92.96 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SAMD12 30 31
  • 92.72 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Samd12 30 17 31
  • 89.86 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Samd12 30
  • 87.01 (n)
Oppossum
(Monodelphis domestica)
Mammalia SAMD12 31
  • 84 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SAMD12 31
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SAMD12 30 31
  • 76.25 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SAMD12 31
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia samd12 30
  • 67.1 (n)
Zebrafish
(Danio rerio)
Actinopterygii samd12 30
  • 65.09 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta ave 31
  • 34 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 20 (a)
OneToMany
Species where no ortholog for SAMD12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SAMD12: view image

Paralogs for SAMD12 Gene

Paralogs for SAMD12 Gene

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

  • SAM12_HUMAN
  • B8ZZB7_HUMAN
  • E9PLP5_HUMAN
  • F8VYB8_HUMAN
  • H0Y632_HUMAN
  • H0YDQ2_HUMAN
  • H0YEJ0_HUMAN

Pseudogenes.org Pseudogenes for SAMD12 Gene

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

Variants for SAMD12 Gene

Additional dbSNP identifiers (rs#s) for SAMD12 Gene

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

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

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)

Additional Variant Information for SAMD12 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SAMD12 Gene

Disorders for SAMD12 Gene

MalaCards: The human disease database

(14) MalaCards diseases for SAMD12 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SAM12_HUMAN
  • Epilepsy, familial adult myoclonic, 1 (FAME1) [MIM:601068]: A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME1 inheritance is autosomal dominant. {ECO:0000269 PubMed:29507423, ECO:0000269 PubMed:29939203}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SAMD12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SAMD12: view

No data available for Genatlas for SAMD12 Gene

Publications for SAMD12 Gene

  1. Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. (PMID: 29507423) Ishiura H … Tsuji S (Nature genetics 2018) 3 4
  2. 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 41
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy. (PMID: 30194086) Zeng S … Tang BS (Journal of medical genetics 2019) 3
  5. Intronic (TTTGA)n insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy. (PMID: 31483537) Cen Z … Luo W (Movement disorders : official journal of the Movement Disorder Society 2019) 3

Products for SAMD12 Gene

Sources for SAMD12 Gene