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Aliases for MSANTD3 Gene

Aliases for MSANTD3 Gene

  • Myb/SANT DNA Binding Domain Containing 3 2 3 5
  • Myb/SANT-Like DNA-Binding Domain Containing 3 2 3
  • C9orf30 3 4
  • Myb/SANT-Like DNA-Binding Domain-Containing Protein 3 3
  • Chromosome 9 Open Reading Frame 30 2
  • UPF0439 Protein C9orf30 3
  • L8 3

External Ids for MSANTD3 Gene

Previous HGNC Symbols for MSANTD3 Gene

  • C9orf30

Previous GeneCards Identifiers for MSANTD3 Gene

  • GC09P103190

Summaries for MSANTD3 Gene

GeneCards Summary for MSANTD3 Gene

MSANTD3 (Myb/SANT DNA Binding Domain Containing 3) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include identical protein binding.

Additional gene information for MSANTD3 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MSANTD3 Gene

Genomics for MSANTD3 Gene

GeneHancer (GH) Regulatory Elements for MSANTD3 Gene

Promoters and enhancers for MSANTD3 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
GH09I100425 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 554.3 +1.2 1176 5.4 PKNOX1 SMAD1 FOXA2 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 FOS MSANTD3 TMEFF1 MSANTD3-TMEFF1
GH09I099818 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.3 -605.4 -605415 6.7 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 MEF2D NR4A3 GC09M099818 LOC101928438 MSANTD3 ERP44
GH09I100472 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 11.7 +46.8 46756 2.8 ZSCAN4 ARID4B KLF17 SIN3A ZNF335 TCF12 GLIS2 EGR2 REST ZNF217 TMEFF1 MSANTD3-TMEFF1 MSANTD3 PLPPR1 CAVIN4
GH09I100411 Enhancer 1.1 Ensembl ENCODE 8.3 -15.4 -15398 1.3 ARID4B SIN3A DMAP1 YY1 ZNF143 SP3 NFYC MXD4 ZNF518A KAT8 TMEFF1 TEX10 MSANTD3-TMEFF1 MSANTD3 LOC105376177
GH09I100209 Enhancer 0.9 Ensembl ENCODE 9.8 -216.9 -216892 1 CTCF HDAC1 MEIS2 IRF2 PKNOX1 ATF1 NFATC3 ARNT BATF MTA3 INVS STX17 RN7SL75P ERP44 NR4A3 LOC101928438 MSANTD3 MSANTD3-TMEFF1 TMEFF1 GC09P100176
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MSANTD3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for MSANTD3 Gene

Genomic Locations for MSANTD3 Gene
chr9:100,427,156-100,451,734
(GRCh38/hg38)
Size:
24,579 bases
Orientation:
Plus strand
chr9:103,189,438-103,214,016
(GRCh37/hg19)

Genomic View for MSANTD3 Gene

Genes around MSANTD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MSANTD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MSANTD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MSANTD3 Gene

Proteins for MSANTD3 Gene

  • Protein details for MSANTD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96H12-MSD3_HUMAN
    Recommended name:
    Myb/SANT-like DNA-binding domain-containing protein 3
    Protein Accession:
    Q96H12
    Secondary Accessions:
    • B2RC35
    • Q5T726
    • Q5T727
    • Q5T728

    Protein attributes for MSANTD3 Gene

    Size:
    275 amino acids
    Molecular mass:
    32363 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAI12539.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI12540.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for MSANTD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MSANTD3 Gene

Post-translational modifications for MSANTD3 Gene

No Post-translational modifications

No data available for DME Specific Peptides for MSANTD3 Gene

Domains & Families for MSANTD3 Gene

Gene Families for MSANTD3 Gene

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

Protein Domains for MSANTD3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MSANTD3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96H12

UniProtKB/Swiss-Prot:

MSD3_HUMAN :
  • Belongs to the MSANTD3 family.
Family:
  • Belongs to the MSANTD3 family.
genes like me logo Genes that share domains with MSANTD3: view

Function for MSANTD3 Gene

Phenotypes From GWAS Catalog for MSANTD3 Gene

Gene Ontology (GO) - Molecular Function for MSANTD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042802 identical protein binding IEA --
genes like me logo Genes that share ontologies with MSANTD3: view

Phenotypes for MSANTD3 Gene

genes like me logo Genes that share phenotypes with MSANTD3: view

Animal Model Products

miRNA for MSANTD3 Gene

miRTarBase miRNAs that target MSANTD3

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MSANTD3 Gene

Localization for MSANTD3 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 MSANTD3 gene
Compartment Confidence
nucleus 2
cytosol 2
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MSANTD3 Gene

Pathways & Interactions for MSANTD3 Gene

SuperPathways for MSANTD3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MSANTD3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for MSANTD3 Gene

Drugs & Compounds for MSANTD3 Gene

No Compound Related Data Available

Transcripts for MSANTD3 Gene

Unigene Clusters for MSANTD3 Gene

Myb/SANT-like DNA-binding domain containing 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MSANTD3 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1:
SP2: -
SP3: - - - - -
SP4:
SP5: - -

Relevant External Links for MSANTD3 Gene

GeneLoc Exon Structure for
MSANTD3
ECgene alternative splicing isoforms for
MSANTD3

Expression for MSANTD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MSANTD3 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MSANTD3 Gene



NURSA nuclear receptor signaling pathways regulating expression of MSANTD3 Gene:

MSANTD3

SOURCE GeneReport for Unigene cluster for MSANTD3 Gene:

Hs.530272

mRNA Expression by UniProt/SwissProt for MSANTD3 Gene:

Q96H12-MSD3_HUMAN
Tissue specificity: Expressed in brain.

Evidence on tissue expression from TISSUES for MSANTD3 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with MSANTD3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MSANTD3 Gene

Orthologs for MSANTD3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MSANTD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEFF1 34
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MSANTD3 33 34
  • 95.52 (n)
oppossum
(Monodelphis domestica)
Mammalia MSANTD3 34
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MSANTD3 34
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Msantd3 33
  • 87.39 (n)
mouse
(Mus musculus)
Mammalia Msantd3 33 16 34
  • 86.67 (n)
chicken
(Gallus gallus)
Aves C2H9ORF30 33
  • 80.44 (n)
MSANTD3 34
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MSANTD3 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia msantd3 33
  • 73.09 (n)
Str.2438 33
African clawed frog
(Xenopus laevis)
Amphibia mgc17337-prov 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 34 (a)
OneToOne
Species where no ortholog for MSANTD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • dog (Canis familiaris)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • zebrafish (Danio rerio)

Evolution for MSANTD3 Gene

ENSEMBL:
Gene Tree for MSANTD3 (if available)
TreeFam:
Gene Tree for MSANTD3 (if available)

Paralogs for MSANTD3 Gene

Pseudogenes.org Pseudogenes for MSANTD3 Gene

genes like me logo Genes that share paralogs with MSANTD3: view

No data available for Paralogs for MSANTD3 Gene

Variants for MSANTD3 Gene

Sequence variations from dbSNP and Humsavar for MSANTD3 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000193863 -- 100,447,307(+) A/G intron_variant
rs1000303119 -- 100,440,593(+) /G intron_variant
rs1000438601 -- 100,440,929(+) A/G intron_variant
rs1000506854 -- 100,434,694(+) C/G intron_variant
rs1000652341 -- 100,447,599(+) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MSANTD3 Gene

Variant ID Type Subtype PubMed ID
dgv4107n106 CNV deletion 24896259
nsv1075260 CNV deletion 25765185
nsv1137489 CNV deletion 24896259
nsv614955 CNV loss 21841781
nsv825012 CNV gain 20364138

Variation tolerance for MSANTD3 Gene

Residual Variation Intolerance Score: 46.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.27; 52.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MSANTD3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MSANTD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MSANTD3 Gene

Disorders for MSANTD3 Gene

Additional Disease Information for MSANTD3

No disorders were found for MSANTD3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MSANTD3 Gene

Publications for MSANTD3 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. Suppression subtractive hybridization and expression profiling identifies a unique set of genes overexpressed in non-small-cell lung cancer. (PMID: 15334068) Petroziello J … Carter P (Oncogene 2004) 3 4 58
  3. Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation. (PMID: 28112733) Hendriks IA … Nielsen ML (Nature structural & molecular biology 2017) 4 58
  4. Recurrent rearrangements of the Myb/SANT-like DNA-binding domain containing 3 gene (MSANTD3) in salivary gland acinic cell carcinoma. (PMID: 28212443) Barasch N … Pollack JR (PloS one 2017) 3 58
  5. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. (PMID: 24705354) Butland SL … Hayden MR (Human molecular genetics 2014) 3 58

Products for MSANTD3 Gene

Sources for MSANTD3 Gene

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