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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

Entrez Gene Summary for SAMD9L Gene

  • This gene encodes a cytoplasmic protein that acts as a tumor suppressor but also plays a key role in cell proliferation and the innate immune response to viral infection. The encoded protein contains an N-terminal sterile alpha motif domain. Naturally occurring mutations in this gene are associated with myeloid disorders such as juvenile myelomonocytic leukemia, acute myeloid leukemia, and myelodysplastic syndrome. Naturally occurring mutations are also associated with hepatitis-B related hepatocellular carcinoma, normophosphatemic familial tumoral calcinosis, and ataxia-pancytopenia syndrome. [provided by RefSeq, Apr 2017]

GeneCards Summary for SAMD9L Gene

SAMD9L (Sterile Alpha Motif Domain Containing 9 Like) is a Protein Coding gene. Diseases associated with SAMD9L include Ataxia-Pancytopenia Syndrome and Pancytopenia. An important paralog of this gene is SAMD9.

UniProtKB/Swiss-Prot for SAMD9L Gene

  • May be involved in endosome fusion. Mediates down-regulation of growth factor signaling via internalization of growth factor receptors.

Additional gene information for SAMD9L Gene

No data available for CIViC summary , 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
GH07H093145 0.9 ENCODE 25.8 +1.1 1124 3 TBP PKNOX1 ATF1 ZNF766 ELK1 RUNX3 CAVIN1 ZBTB11 ZNF592 MEF2D KRIT1 ENSG00000243107 PEX1 GATAD1 FAM133B SAMD9L LOC105375403 BET1 VPS50 GC07P093141
GH07H093231 1.1 ENCODE 20.8 -83.7 -83679 1 PKNOX1 FOXA2 ARNT ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF207 ZNF143 KRIT1 LOC105375403 PEX1 SAMD9L GATAD1 FAM133B BET1 VPS50 HEPACAM2
GH07H092653 0.6 FANTOM5 dbSUPER 27.1 +495.2 495206 0 SAMD9L KRIT1 GATAD1 SAMD9 LRRD1 GC07M092611 RNU6-10P GC07M092702
GH07H093326 0.5 ENCODE 23.8 -178.8 -178768 1 JUND POLR2A CEBPB FOS SAMD9L GC07M093315 VPS50
GH07H093228 0.8 ENCODE 11.6 -80.0 -80030 0 CTCF FOXA2 CEBPG ZNF2 RAD21 FOXK2 SCRT2 SMC3 ZNF143 SCRT1 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
ENSR00000215166 593 1601 TBP PKNOX1 BACH1 EBF1 IRF9 ZNF316 POLR2A STAT2 NFE2 ZNF584

Genomic Location for SAMD9L Gene

Chromosome:
7
Start:
93,130,054 bp from pter
End:
93,148,393 bp from pter
Size:
18,340 bases
Orientation:
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:
    Q8IVG5-SAM9L_HUMAN
    Recommended name:
    Sterile alpha motif domain-containing protein 9-like
    Protein Accession:
    Q8IVG5
    Secondary Accessions:
    • A0JP23
    • A0JP24
    • A0PJG8
    • A4D1G8
    • D6W5Q6
    • Q2TV71
    • Q2TV75
    • Q2UZV8
    • Q8IWI4
    • Q8N3L9
    • Q8N875

    Protein attributes for SAMD9L Gene

    Size:
    1584 amino acids
    Molecular mass:
    184533 Da
    Quaternary structure:
    • Interacts with EEA1.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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

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

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

Function for SAMD9L Gene

Molecular function for SAMD9L Gene

UniProtKB/Swiss-Prot Function:
May be involved in endosome fusion. Mediates down-regulation of growth factor signaling via internalization of growth factor receptors.

Phenotypes From GWAS Catalog for SAMD9L Gene

Gene Ontology (GO) - Molecular Function for SAMD9L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24029230
genes like me logo Genes that share ontologies with SAMD9L: view
genes like me logo Genes that share phenotypes with SAMD9L: view

Human Phenotype Ontology for SAMD9L Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SAMD9L Gene

MGI Knock Outs for SAMD9L:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SAMD9L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SAMD9L Gene

Localization for SAMD9L Gene

Subcellular locations from UniProtKB/Swiss-Prot for SAMD9L Gene

Early endosome.

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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SAMD9L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005769 early endosome IBA --
genes like me logo Genes that share ontologies with SAMD9L: view

Pathways & Interactions for SAMD9L Gene

SuperPathways for SAMD9L Gene

No Data Available

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

Drugs & Compounds for SAMD9L Gene

No Compound Related Data Available

Transcripts for SAMD9L Gene

Unigene Clusters for SAMD9L Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SAMD9L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6
SP1:
SP2: - -
SP3: - -

Relevant External Links for SAMD9L Gene

GeneLoc Exon Structure for
SAMD9L
ECgene alternative splicing isoforms for
SAMD9L

Expression for SAMD9L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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:

SAMD9L

SOURCE GeneReport for Unigene cluster for SAMD9L Gene:

Hs.489118

mRNA Expression by UniProt/SwissProt for SAMD9L Gene:

Q8IVG5-SAM9L_HUMAN
Tissue specificity: Widely expressed in adult and fetal tissues. Variable expression in tumors. Down-regulated in breast cancer.

Evidence on tissue expression from TISSUES for SAMD9L Gene

  • Spleen(4.3)
  • Nervous system(4.2)
  • Skin(4.1)
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 and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia SAMD9L 33 34
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia SAMD9L 33 34
  • 86.03 (n)
mouse
(Mus musculus)
Mammalia Samd9l 33 16 34
  • 79.69 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 53 (a)
ManyToMany
chicken
(Gallus gallus)
Aves SAMD9L 33
  • 62.16 (n)
-- 34
  • 51 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 55 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia samd9l 33
  • 60.87 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-141h20.6 34
  • 37 (a)
ManyToMany
si:ch211-113e8.9 34
  • 34 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for SAMD9L (if available)
TreeFam:
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
rs878855336 Pathogenic, Ataxia-pancytopenia syndrome (ATXPC) [MIM:159550] 93,133,332(-) CAGCA(A/C/T)AAGAA reference, synonymous-codon, missense
rs878855337 Pathogenic, Ataxia-pancytopenia syndrome (ATXPC) [MIM:159550] 93,132,385(-) AGCTT(C/G)TTTCT reference, missense
rs1000141316 -- 93,132,467(+) AGTTT(G/T)CCTTT reference, missense
rs1000357874 -- 93,139,841(+) AAACA(C/G)TAGTA intron-variant
rs1000381782 -- 93,144,335(+) ATTTG(-/AA)AAAAA intron-variant

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)
SAMD9L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SAMD9L

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

Disorders for SAMD9L Gene

MalaCards: The human disease database

(8) MalaCards diseases for SAMD9L Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ataxia-pancytopenia syndrome
  • myelocerebellar disorder
pancytopenia
tumoral calcinosis, familial, normophosphatemic
  • normophosphatemic familial tumoral calcinosis
familial tumoral calcinosis
calcinosis
  • pathologic calcification
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SAM9L_HUMAN
  • Ataxia-pancytopenia syndrome (ATXPC) [MIM:159550]: An autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia. {ECO:0000269 PubMed:27259050}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SAMD9L

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

No data available for Genatlas for SAMD9L Gene

Publications for SAMD9L Gene

  1. Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. (PMID: 27259050) Chen DH … Raskind WH (American journal of human genetics 2016) 3 4 60
  2. Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7. (PMID: 24029230) Nagamachi A … Inaba T (Cancer cell 2013) 3 4 60
  3. Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse. (PMID: 17407603) Li CF … Alman BA (BMC genomics 2007) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 60

Products for SAMD9L Gene

Sources for SAMD9L Gene

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