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Aliases for SAMD7 Gene

Aliases for SAMD7 Gene

  • Sterile Alpha Motif Domain Containing 7 2 3 5
  • SAM Domain-Containing Protein 7 4

External Ids for SAMD7 Gene

Previous GeneCards Identifiers for SAMD7 Gene

  • GC03P170950
  • GC03P171112
  • GC03P169629
  • GC03P166999

Summaries for SAMD7 Gene

GeneCards Summary for SAMD7 Gene

SAMD7 (Sterile Alpha Motif Domain Containing 7) is a Protein Coding gene. Diseases associated with SAMD7 include Retinitis Pigmentosa. An important paralog of this gene is SAMD11.

UniProtKB/Swiss-Prot for SAMD7 Gene

  • Involved in the regulation of gene expression in the retina. It functions as a negative regulator of CRX-controlled genes.

Additional gene information for SAMD7 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SAMD7 Gene

Genomics for SAMD7 Gene

GeneHancer (GH) Regulatory Elements for SAMD7 Gene

Promoters and enhancers for SAMD7 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
GH03I169911 Promoter 0.5 EPDnew 550.4 +6.4 6447 0.1 SAMD7 LOC100421510
GH03I169944 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.5 +40.4 40437 2.3 PKNOX1 ATF1 ARNT IRF4 ZNF143 ATF7 RUNX3 JUNB ZNF592 ATF4 ENSG00000244193 LOC100128164 SEC62 LRRC31 GPR160 SAMD7 LRRC34 LRRIQ4 GC03P169939
GH03I169938 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.3 +35.6 35560 4.2 PKNOX1 SMAD1 BMI1 BATF TCF12 GATA2 ATF7 ETV6 BCLAF1 IKZF2 GC03P169939 LOC100128164 SEC62 LRRC31 SAMD7 GPR160 LRRC34 LRRIQ4 ENSG00000244193
GH03I170006 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.8 +102.1 102060 0.9 ELF3 MCM3 ETV1 CEBPB ELF1 CEBPG ZNF644 ATF2 GABPA ATF4 PHC3 GPR160 MYNN LOC100128164 RNU4-38P RPL22P1 SAMD7 LRRIQ4 LRRC34 SEC62
GH03I169953 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.5 +49.2 49202 1.9 BATF ZNF644 IRF4 RELA ZNF766 POLR2A VEZF1 ATF7 ETV6 IKZF2 LOC100128164 LRRC31 SAMD7 LRRC34 LRRIQ4 GPR160 ENSG00000244193 SEC62
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SAMD7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SAMD7 gene promoter:

Genomic Locations for SAMD7 Gene

Genomic Locations for SAMD7 Gene
chr3:169,905,106-169,939,175
(GRCh38/hg38)
Size:
34,070 bases
Orientation:
Plus strand
chr3:169,629,360-169,656,963
(GRCh37/hg19)

Genomic View for SAMD7 Gene

Genes around SAMD7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SAMD7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SAMD7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SAMD7 Gene

Proteins for SAMD7 Gene

  • Protein details for SAMD7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z3H4-SAMD7_HUMAN
    Recommended name:
    Sterile alpha motif domain-containing protein 7
    Protein Accession:
    Q7Z3H4

    Protein attributes for SAMD7 Gene

    Size:
    446 amino acids
    Molecular mass:
    49112 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SAMD7 Gene

Post-translational modifications for SAMD7 Gene

No Post-translational modifications

Other Protein References for SAMD7 Gene

No data available for DME Specific Peptides for SAMD7 Gene

Domains & Families for SAMD7 Gene

Gene Families for SAMD7 Gene

Protein Domains for SAMD7 Gene

Suggested Antigen Peptide Sequences for SAMD7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SAMD7: view

No data available for UniProtKB/Swiss-Prot for SAMD7 Gene

Function for SAMD7 Gene

Molecular function for SAMD7 Gene

UniProtKB/Swiss-Prot Function:
Involved in the regulation of gene expression in the retina. It functions as a negative regulator of CRX-controlled genes.
genes like me logo Genes that share phenotypes with SAMD7: view

Animal Model Products

Clone Products

  • Addgene plasmids for SAMD7

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SAMD7 Gene

Localization for SAMD7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SAMD7 Gene

Nucleus. Cytoplasm.

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 SAMD7 gene
Compartment Confidence
nucleus 4
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for SAMD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with SAMD7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SAMD7 Gene

Pathways & Interactions for SAMD7 Gene

SuperPathways for SAMD7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SAMD7 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SAMD7 Gene

Drugs & Compounds for SAMD7 Gene

No Compound Related Data Available

Transcripts for SAMD7 Gene

mRNA/cDNA for SAMD7 Gene

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SAMD7 Gene

Sterile alpha motif domain containing 7:
Representative Sequences:

Clone Products

  • Addgene plasmids for SAMD7

Alternative Splicing Database (ASD) splice patterns (SP) for SAMD7 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: -
SP2:

Relevant External Links for SAMD7 Gene

GeneLoc Exon Structure for
SAMD7
ECgene alternative splicing isoforms for
SAMD7

Expression for SAMD7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SAMD7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SAMD7 Gene

This gene is overexpressed in Testis (x11.7) and Spleen (x5.0).

Protein differential expression in normal tissues from HIPED for SAMD7 Gene

This gene is overexpressed in Heart (37.2) and Retina (31.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SAMD7 Gene



Protein tissue co-expression partners for SAMD7 Gene

NURSA nuclear receptor signaling pathways regulating expression of SAMD7 Gene:

SAMD7

SOURCE GeneReport for Unigene cluster for SAMD7 Gene:

Hs.439922

mRNA Expression by UniProt/SwissProt for SAMD7 Gene:

Q7Z3H4-SAMD7_HUMAN
Tissue specificity: Expressed in the retina (at protein level).

Evidence on tissue expression from TISSUES for SAMD7 Gene

  • Eye(4.3)
genes like me logo Genes that share expression patterns with SAMD7: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SAMD7 Gene

Orthologs for SAMD7 Gene

This gene was present in the common ancestor of animals.

Orthologs for SAMD7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SAMD7 33 34
  • 98.95 (n)
dog
(Canis familiaris)
Mammalia SAMD7 33 34
  • 85.72 (n)
cow
(Bos Taurus)
Mammalia SAMD7 33 34
  • 82.74 (n)
mouse
(Mus musculus)
Mammalia Samd7 33 16 34
  • 77.55 (n)
rat
(Rattus norvegicus)
Mammalia Samd7 33
  • 76.03 (n)
oppossum
(Monodelphis domestica)
Mammalia SAMD7 34
  • 40 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SAMD7 34
  • 37 (a)
OneToOne
chicken
(Gallus gallus)
Aves SAMD7 34
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SAMD7 34
  • 44 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii samd7 34
  • 29 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Samuel 34
  • 8 (a)
OneToMany
Species where no ortholog for SAMD7 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SAMD7 Gene

ENSEMBL:
Gene Tree for SAMD7 (if available)
TreeFam:
Gene Tree for SAMD7 (if available)

Paralogs for SAMD7 Gene

Paralogs for SAMD7 Gene

genes like me logo Genes that share paralogs with SAMD7: view

Variants for SAMD7 Gene

Sequence variations from dbSNP and Humsavar for SAMD7 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000096728 -- 169,915,429(+) G/A 5_prime_UTR_variant, non_coding_transcript_variant
rs1000147407 -- 169,915,697(+) G/C intron_variant
rs1000210595 -- 169,920,392(+) T/A intron_variant
rs1000242824 -- 169,929,599(+) T/C intron_variant
rs1000526160 -- 169,928,207(+) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SAMD7 Gene

Variant ID Type Subtype PubMed ID
esv2663940 CNV deletion 23128226
esv2726188 CNV deletion 23290073
esv3598608 CNV gain 21293372
esv3598614 CNV gain 21293372
esv3598615 CNV loss 21293372
nsv460987 CNV loss 19166990
nsv592505 CNV loss 21841781
nsv7356 OTHER inversion 18451855

Variation tolerance for SAMD7 Gene

Residual Variation Intolerance Score: 58.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.42; 77.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SAMD7 Gene

Human Gene Mutation Database (HGMD)
SAMD7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SAMD7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SAMD7 Gene

Disorders for SAMD7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SAMD7 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa
  • rp
- elite association - COSMIC cancer census association via MalaCards
Search SAMD7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SAMD7

genes like me logo Genes that share disorders with SAMD7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SAMD7 Gene

Publications for SAMD7 Gene

  1. Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7. (PMID: 26887858) Van Schil K … De Baere E (Scientific reports 2016) 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. Sterile alpha motif containing 7 (samd7) is a novel crx-regulated transcriptional repressor in the retina. (PMID: 23565263) Hlawatsch J … Langmann T (PloS one 2013) 3 58

Products for SAMD7 Gene

  • Addgene plasmids for SAMD7

Sources for SAMD7 Gene

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