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 l... See more...

Aliases for SAMD9L Gene

Aliases for SAMD9L Gene

  • Sterile Alpha Motif Domain Containing 9 Like 2 3 5
  • Sterile Alpha Motif Domain-Containing Protein 9-Like 3 4
  • SAM Domain-Containing Protein 9-Like 3 4
  • C7orf6 3 4
  • DRIF2 3 4
  • 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 Summary 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 , Rfam classification and piRNA Summary for SAMD9L Gene

Genomics for SAMD9L Gene

GeneHancer (GH) Regulatory Elements for SAMD9L Gene

Promoters and enhancers for SAMD9L 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
GH07J093145 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 525.8 +1.1 1123 3.6 TEAD4 ZBTB11 POLR2A HINFP RELA ZNF316 IRF1 ZNF592 MEF2B GTF2A2 SAMD9L lnc-SAMD9L-1 VPS50 piR-35858-010
GH07J093231 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 20.9 -84.0 -83952 2.5 RXRA FOXK2 ZBTB40 ZNF217 EP300 TCF12 SIN3A NRF1 POLR2G USF1 VPS50 HEPACAM2 SAMD9L ENSG00000236861 KRIT1 PEX1 piR-41880-027
GH07J092652 Enhancer 1 FANTOM5 Ensembl ENCODE dbSUPER 27.1 +494.5 494492 3 ZNF217 GATA3 MTA2 FOXA1 SAMD9L KRIT1 GATAD1 SAMD9 LRRD1 ENSG00000286742 lnc-FAM133B-1 RF00017-6432 CDK6
GH07J093228 Enhancer 0.9 Ensembl ENCODE 18.8 -80.2 -80197 0.8 CTCF REST RAD21 TRIM22 SMC3 FOXA2 CEBPG CEBPB NBN ELF1 SAMD9L VPS50 HEPACAM2 piR-56883-178
GH07J093326 Enhancer 0.6 Ensembl ENCODE 23.8 -178.9 -178855 1.5 JUND FOS CEBPB POLR2A MYC SAMD9L piR-55036-094 HSALNG0059572 VPS50
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SAMD9L on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SAMD9L

Top Transcription factor binding sites by QIAGEN in the SAMD9L gene promoter:
  • aMEF-2
  • FOXO4
  • IRF-1
  • IRF-2
  • MEF-2
  • MEF-2A

Genomic Locations for SAMD9L Gene

Genomic Locations for SAMD9L Gene
chr7:93,130,054-93,148,393
(GRCh38/hg38)
Size:
18,340 bases
Orientation:
Minus strand
chr7:92,759,368-92,777,682
(GRCh37/hg19)
Size:
18,315 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.
    Miscellaneous:
    • [Isoform 2]: Dubious isoform produced through aberrant splice sites.
    SequenceCaution:
    • Sequence=AAI27118.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAI27119.1; Type=Frameshift; 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

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

Protein Domains for SAMD9L Gene

Blocks:
  • Sterile alpha motif SAM
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SAMD9L Gene

GenScript: Design optimal peptide antigens:
  • Sterile alpha motif domain-containing protein 9-like (SAM9L_HUMAN)
genes like me logo Genes that share domains with SAMD9L: view

No data available for Graphical View of Domain Structure and 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SAMD9L

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
endosome 4
cytosol 3
plasma membrane 2
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 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:0005737 cytoplasm IBA 21873635
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA --
genes like me logo Genes that share ontologies with SAMD9L: view

Pathways & Interactions for SAMD9L Gene

PathCards logo

SuperPathways for SAMD9L Gene

No Data Available

Gene Ontology (GO) - Biological Process for SAMD9L Gene

None

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

mRNA/cDNA for SAMD9L Gene

9 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
9 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 SAMD9L

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

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, MaxQB, and MOPED for SAMD9L Gene



Protein tissue co-expression partners for SAMD9L Gene

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

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 31 30
  • 99.49 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SAMD9L 31 30
  • 86.03 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Samd9l 17 31 30
  • 79.69 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 53 (a)
ManyToMany
chicken
(Gallus gallus)
Aves SAMD9L 30
  • 62.16 (n)
-- 31
  • 51 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 55 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia samd9l 30
  • 60.87 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-141h20.6 31
  • 37 (a)
ManyToMany
si:ch211-113e8.9 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SAMD9L: view image

Paralogs for SAMD9L Gene

Paralogs for SAMD9L Gene

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

  • SAM9L_HUMAN
genes like me logo Genes that share paralogs with SAMD9L: view

Variants for SAMD9L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SAMD9L Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
691978 Uncertain Significance: Myelocerebellar disorder 93,133,016(-) G/T MISSENSE_VARIANT
rs1554341158 Pathogenic: Myelocerebellar disorder 93,133,016(-) G/A MISSENSE_VARIANT
rs1554341277 Pathogenic: Myelocerebellar disorder 93,133,300(-) A/G MISSENSE_VARIANT
rs1554341671 Uncertain Significance: not provided 93,134,095(-) G/A MISSENSE_VARIANT
rs1562789302 Uncertain Significance: not provided 93,132,619(-) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SAMD9L Gene

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)

Additional Variant Information 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

(11) MalaCards diseases for SAMD9L Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for 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 54
  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 54
  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 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 54

Products for SAMD9L Gene

Sources for SAMD9L Gene