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Aliases for SAMD9L Gene

Aliases for SAMD9L Gene

  • Sterile Alpha Motif Domain Containing 9 Like 2 3 5
  • SAM Domain-Containing Protein 9-Like 3 4
  • C7orf6 3 4
  • DRIF2 3 4
  • Sterile Alpha Motif Domain-Containing Protein 9-Like 3
  • Sterile Alpha Motif Domain Containing 9-Like 2
  • Chromosome 7 Open Reading Frame 6 2
  • KIAA2005 4
  • ATXPC 3
  • UEF1 3
  • UEF 4

External Ids for SAMD9L Gene

Previous HGNC Symbols for SAMD9L Gene

  • C7orf6

Previous GeneCards Identifiers for SAMD9L Gene

  • GC07M092405
  • GC07M092597
  • GC07M092759
  • GC07M087368

Summaries for SAMD9L Gene

GeneCards Summary for SAMD9L Gene

SAMD9L (Sterile Alpha Motif Domain Containing 9 Like) is a Protein Coding gene. Diseases associated with SAMD9L include Myelocerebellar Disorder and Leukemia, Acute Myelomonocytic, Somatic, Somatic. An important paralog of this gene is SAMD9.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SAMD9L Gene

Genomics for SAMD9L Gene

Regulatory Elements for SAMD9L Gene

Enhancers for SAMD9L 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
GH07F093145 0.9 ENCODE 25.8 +1.1 1124 3.6 TBP PKNOX1 ATF1 PTRF YY1 ZBTB11 CREB3 TFDP1 MEF2D ZNF589 SAMD9L FAM133B VPS50 GC07P093141
GH07F093231 1.1 ENCODE 20.8 -83.7 -83679 2.0 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A ZNF2 YY1 ZNF207 ZNF143 SAMD9L LOC105375403 FAM133B GATAD1 RPS27P17 VPS50 HEPACAM2
GH07F093326 0.6 ENCODE 23.8 -178.8 -178768 1.3 JUND CEBPB ZNF407 FOS ZNF7 SAMD9L GC07M093315 VPS50
GH07F092653 0.5 FANTOM5 27.1 +495.2 495206 0.4 SCRT1 SAMD9L KRIT1 GATAD1 SAMD9 LRRD1 GC07M092611 GC07M092702 RNU6-10P
GH07F093228 1 Ensembl ENCODE 11.6 -80.2 -80182 0.5 CTCF ZNF2 RAD21 FOXK2 SCRT2 ZNF143 SMC3 GATAD2A ZNF654 FOXA3 SAMD9L VPS50 HEPACAM2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SAMD9L on UCSC Golden Path with GeneCards custom track

Promoters for SAMD9L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000630342 593 2001 TBP PKNOX1 ZNF146 ETV1 ZNF175 PTRF BACH1 EBF1 ZNF644 RELA

Genomic Location for SAMD9L Gene

93,130,054 bp from pter
93,148,393 bp from pter
18,340 bases
Minus strand

Genomic View for SAMD9L Gene

Genes around SAMD9L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SAMD9L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SAMD9L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SAMD9L Gene

Proteins for SAMD9L Gene

  • Protein details for SAMD9L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Sterile alpha motif domain-containing protein 9-like
    Protein Accession:
    Secondary Accessions:
    • A0JP23
    • A0JP24
    • A0PJG8
    • A4D1G8
    • D6W5Q6
    • Q2TV71
    • Q2TV75
    • Q2UZV8
    • Q8IWI4
    • Q8N3L9
    • Q8N875

    Protein attributes for SAMD9L Gene

    1584 amino acids
    Molecular mass:
    184533 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAI27118.1; Type=Frameshift; Positions=1259; Evidence={ECO:0000305}; Sequence=AAI27119.1; Type=Frameshift; Positions=1516; Evidence={ECO:0000305}; Sequence=BAC04975.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC23102.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAD38910.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SAMD9L Gene


neXtProt entry for SAMD9L Gene

Post-translational modifications for SAMD9L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SAMD9L Gene

Domains & Families for SAMD9L Gene

Gene Families for SAMD9L Gene

Protein Domains for SAMD9L Gene

Suggested Antigen Peptide Sequences for SAMD9L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 SAM (sterile alpha motif) domain.
  • Contains 1 SAM (sterile alpha motif) domain.
genes like me logo Genes that share domains with SAMD9L: view

Function for SAMD9L Gene

genes like me logo Genes that share phenotypes with SAMD9L: view

Animal Models for SAMD9L Gene

MGI Knock Outs for SAMD9L:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SAMD9L Gene

Localization for SAMD9L Gene

Subcellular locations from

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 SAMD9L gene
Compartment Confidence
cytosol 3
endosome 3
nucleus 2
plasma membrane 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SAMD9L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005769 early endosome IBA --
genes like me logo Genes that share ontologies with SAMD9L: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for SAMD9L Gene

Pathways & Interactions for SAMD9L Gene

SuperPathways for SAMD9L Gene

No Data Available

Interacting Proteins for SAMD9L Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: ENSP00000326247 Q8IVG5-SAM9L_HUMAN for SAMD9L Gene via STRING IID

Gene Ontology (GO) - Biological Process for SAMD9L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034058 endosomal vesicle fusion IBA --
genes like me logo Genes that share ontologies with SAMD9L: view

No data available for Pathways by source and SIGNOR curated interactions for SAMD9L Gene

Transcripts for SAMD9L Gene

Unigene Clusters for SAMD9L Gene

Sterile alpha motif domain containing 9-like:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SAMD9L Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6
SP2: - -
SP3: - -

Relevant External Links for SAMD9L Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SAMD9L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SAMD9L Gene

mRNA differential expression in normal tissues according to GTEx for SAMD9L Gene

This gene is overexpressed in Whole Blood (x4.3).

Protein differential expression in normal tissues from HIPED for SAMD9L Gene

This gene is overexpressed in Lymph node (17.1), Lung (9.5), Spleen (8.3), Peripheral blood mononuclear cells (6.4), and Plasma (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SAMD9L Gene

Protein tissue co-expression partners for SAMD9L Gene

NURSA nuclear receptor signaling pathways regulating expression of SAMD9L Gene:


SOURCE GeneReport for Unigene cluster for SAMD9L Gene:


mRNA Expression by UniProt/SwissProt for SAMD9L Gene:

Tissue specificity: Widely expressed in adult and fetal tissues. Variable expression in tumors. Down-regulated in breast cancer.
genes like me logo Genes that share expression patterns with SAMD9L: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SAMD9L Gene

Orthologs for SAMD9L Gene

This gene was present in the common ancestor of chordates.

Orthologs for SAMD9L Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SAMD9L 34 35
  • 99.49 (n)
(Canis familiaris)
Mammalia SAMD9L 34 35
  • 86.03 (n)
(Mus musculus)
Mammalia Samd9l 34 16 35
  • 79.69 (n)
(Monodelphis domestica)
Mammalia -- 35
  • 53 (a)
(Gallus gallus)
Aves SAMD9L 34
  • 62.16 (n)
-- 35
  • 51 (a)
(Anolis carolinensis)
Reptilia -- 35
  • 55 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia samd9l 34
  • 60.87 (n)
(Danio rerio)
Actinopterygii si:ch211-141h20.6 35
  • 37 (a)
si:ch211-113e8.9 35
  • 34 (a)
Species where no ortholog for SAMD9L 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)
  • cow (Bos Taurus)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SAMD9L Gene

Gene Tree for SAMD9L (if available)
Gene Tree for SAMD9L (if available)

Paralogs for SAMD9L Gene

Paralogs for SAMD9L Gene

(1) SIMAP similar genes for SAMD9L Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SAMD9L: view

Variants for SAMD9L Gene

Sequence variations from dbSNP and Humsavar for SAMD9L Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_077034 Ataxia-pancytopenia syndrome (ATXPC) [MIM:159550]
rs878855336 Pathogenic 93,133,332(-) CAGCA(A/C)AAGAA reference, missense
rs878855337 Pathogenic 93,132,385(-) AGCTT(C/G)TTTCT reference, missense
rs10235368 -- 93,141,256(+) ttgac(A/G)tgcct intron-variant
rs10236444 -- 93,130,756(+) CACAT(A/G)AGTTT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SAMD9L Gene

Variant ID Type Subtype PubMed ID
esv3614155 CNV loss 21293372

Variation tolerance for SAMD9L Gene

Residual Variation Intolerance Score: 6.07% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.15; 69.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SAMD9L Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SAMD9L Gene

Disorders for SAMD9L Gene

MalaCards: The human disease database

(2) MalaCards diseases for SAMD9L Gene - From: ClinVar, Orphanet, Swiss-Prot, and DISEASES

Disorder Aliases PubMed IDs
myelocerebellar disorder
  • ataxia-pancytopenia syndrome
leukemia, acute myelomonocytic, somatic, somatic
  • leukemia, juvenile myelomonocytic, somatic
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SAMD9L

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SAMD9L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SAMD9L Gene

Publications for SAMD9L Gene

  1. Human sterile alpha motif domain 9, a novel gene identified as down- regulated in aggressive fibromatosis, is absent in the mouse. (PMID: 17407603) Li C.F. … Alman B.A. (BMC Genomics 2007) 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4 64
  4. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp J.J. … Guthrie C. (Nat. Struct. Mol. Biol. 2015) 3 64
  5. SAMD9L inactivation promotes cell proliferation via facilitating G1-S transition in hepatitis B virus-associated hepatocellular carcinoma. (PMID: 25076857) Wang Q. … Han Z.G. (Int. J. Biol. Sci. 2014) 3 64

Products for SAMD9L Gene

Sources for SAMD9L Gene

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