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Aliases for ARMC9 Gene

Aliases for ARMC9 Gene

  • Armadillo Repeat Containing 9 2 3 5
  • Melanoma/Melanocyte-Specific Tumor Antigen KU-MEL-1 3 4
  • NS21 3 4
  • Melanoma/Melanocyte Specific Protein KU-MEL-1 3
  • LisH Domain-Containing Protein ARMC9 3
  • Armadillo/Beta-Catenin-Like Repeats 3
  • KU-MEL-1 3
  • KIAA1868 4
  • JBTS30 3
  • ARM 3

External Ids for ARMC9 Gene

Previous GeneCards Identifiers for ARMC9 Gene

  • GC02P231889
  • GC02P231771
  • GC02P232064
  • GC02P223905

Summaries for ARMC9 Gene

GeneCards Summary for ARMC9 Gene

ARMC9 (Armadillo Repeat Containing 9) is a Protein Coding gene. Diseases associated with ARMC9 include Joubert Syndrome 30. GO annotations related to this gene include binding.

Gene Wiki entry for ARMC9 Gene

Additional gene information for ARMC9 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARMC9 Gene

Genomics for ARMC9 Gene

Regulatory Elements for ARMC9 Gene

Enhancers for ARMC9 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
GH02H231219 1.4 Ensembl ENCODE dbSUPER 30.5 +23.6 23645 4 PKNOX1 TBL1XR1 ARNT BMI1 BATF ZBTB40 ZNF121 ATF7 ETV6 RUNX3 ARMC9 HTR2B ENSG00000233538 SNORD20 SNORA75 PSMD1 RNU2-22P GC02P231267 GC02P231265 GC02P231258
GH02H231189 1.6 FANTOM5 Ensembl ENCODE dbSUPER 24.7 -7.1 -7073 3 CTCF PKNOX1 SAP130 ARID4B CEBPG DMAP1 ZSCAN9 RAD21 CTBP1 POLR2A HTR2B ARMC9 ENSG00000233538 SNORA75 SNORD20 RNU2-22P RNU1-93P
GH02H231197 1.3 ENCODE dbSUPER 20.5 +0.5 500 2 ATF1 ARID4B SIN3A DMAP1 ETS1 GLIS2 ZNF143 ZNF207 FOS RUNX3 ARMC9 HTR2B RPL28P2 GC02P231258 GC02P231265 GC02P231267
GH02H231226 1.4 Ensembl ENCODE dbSUPER 17.9 +29.9 29911 3 ELF3 PKNOX1 RB1 ARID4B BMI1 BATF ZNF2 ZSCAN9 RAD21 ZNF143 HTR2B ARMC9 ENSG00000233538 SNORA75 SNORD20 NCL RNU2-22P GC02P231267 GC02P231265 GC02P231258
GH02H231407 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12 +212.9 212903 9 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 GLIS2 CBX5 ZNF143 RUNX3 B3GNT7 ARMC9 ENSG00000233538 SNORA75 SNORD20 HTR2B NCL RNU2-22P PSMD1 ENSG00000224376
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ARMC9 on UCSC Golden Path with GeneCards custom track

Promoters for ARMC9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000131789 154 1401 ARID4B SIN3A DMAP1 ETS1 ZNF143 ZNF207 FOS RUNX3 ZHX2 MXD4

Genomic Location for ARMC9 Gene

Chromosome:
2
Start:
231,198,546 bp from pter
End:
231,394,991 bp from pter
Size:
196,446 bases
Orientation:
Plus strand

Genomic View for ARMC9 Gene

Genes around ARMC9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARMC9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARMC9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARMC9 Gene

Proteins for ARMC9 Gene

  • Protein details for ARMC9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z3E5-ARMC9_HUMAN
    Recommended name:
    LisH domain-containing protein ARMC9
    Protein Accession:
    Q7Z3E5
    Secondary Accessions:
    • Q53TI3
    • Q6P162
    • Q7L594
    • Q86WG2
    • Q96JF9
    • Q9H9R8

    Protein attributes for ARMC9 Gene

    Size:
    817 amino acids
    Molecular mass:
    91762 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB14153.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ARMC9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARMC9 Gene

Post-translational modifications for ARMC9 Gene

  • Ubiquitination at posLast=441441
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ARMC9 Gene

Domains & Families for ARMC9 Gene

Gene Families for ARMC9 Gene

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

Protein Domains for ARMC9 Gene

Suggested Antigen Peptide Sequences for ARMC9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ARMC9: view

No data available for UniProtKB/Swiss-Prot for ARMC9 Gene

Function for ARMC9 Gene

Phenotypes From GWAS Catalog for ARMC9 Gene

Phenotypes for ARMC9 Gene

genes like me logo Genes that share phenotypes with ARMC9: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ARMC9 Gene

Localization for ARMC9 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 ARMC9 gene
Compartment Confidence
extracellular 5
cytoskeleton 3
nucleus 3
cytosol 3
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARMC9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with ARMC9: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ARMC9 Gene

Pathways & Interactions for ARMC9 Gene

SuperPathways for ARMC9 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ARMC9 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ARMC9 Gene

Drugs & Compounds for ARMC9 Gene

No Compound Related Data Available

Transcripts for ARMC9 Gene

Unigene Clusters for ARMC9 Gene

Armadillo repeat containing 9:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARMC9 Gene

No ASD Table

Relevant External Links for ARMC9 Gene

GeneLoc Exon Structure for
ARMC9
ECgene alternative splicing isoforms for
ARMC9

Expression for ARMC9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ARMC9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ARMC9 Gene

This gene is overexpressed in Esophagus - Muscularis (x4.8).

Protein differential expression in normal tissues from HIPED for ARMC9 Gene

This gene is overexpressed in Bone (65.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARMC9 Gene



NURSA nuclear receptor signaling pathways regulating expression of ARMC9 Gene:

ARMC9

SOURCE GeneReport for Unigene cluster for ARMC9 Gene:

Hs.471610

mRNA Expression by UniProt/SwissProt for ARMC9 Gene:

Q7Z3E5-ARMC9_HUMAN
Tissue specificity: Strongly expressed in most melanomas and melanocytes. Weakly expressed in the testis.

Evidence on tissue expression from TISSUES for ARMC9 Gene

  • Nervous system(4.4)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with ARMC9: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARMC9 Gene

Orthologs for ARMC9 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARMC9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARMC9 33 34
  • 99.19 (n)
cow
(Bos Taurus)
Mammalia ARMC9 33 34
  • 89.51 (n)
dog
(Canis familiaris)
Mammalia ARMC9 33 34
  • 87.04 (n)
mouse
(Mus musculus)
Mammalia Armc9 33 16 34
  • 84.4 (n)
rat
(Rattus norvegicus)
Mammalia Armc9 33
  • 83.97 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 82 (a)
OneToMany
-- 34
  • 78 (a)
OneToMany
-- 34
  • 69 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ARMC9 34
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARMC9 33 34
  • 71.81 (n)
lizard
(Anolis carolinensis)
Reptilia ARMC9 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia armc9 33
  • 63.02 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100334308 33
  • 62.3 (n)
armc9 34
  • 50 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F59G1.4 34
  • 17 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 53 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13954 33
Species where no ortholog for ARMC9 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)
  • 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)

Evolution for ARMC9 Gene

ENSEMBL:
Gene Tree for ARMC9 (if available)
TreeFam:
Gene Tree for ARMC9 (if available)

Paralogs for ARMC9 Gene

No data available for Paralogs for ARMC9 Gene

Variants for ARMC9 Gene

Sequence variations from dbSNP and Humsavar for ARMC9 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000010498 -- 231,204,948(+) GAGGG(C/T)GCTGG intron-variant, upstream-variant-2KB
rs1000046006 -- 231,245,659(+) ACTTT(C/T)ACTTG intron-variant
rs1000047487 -- 231,326,607(+) GACTA(C/T)GTGGT intron-variant
rs1000050270 -- 231,375,087(+) TTAAA(C/T)CAACA intron-variant, downstream-variant-500B, utr-variant-3-prime
rs1000059971 -- 231,279,067(+) CACCT(A/G)CCCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ARMC9 Gene

Variant ID Type Subtype PubMed ID
esv2277694 CNV deletion 18987734
esv2721611 CNV deletion 23290073
esv2721612 CNV deletion 23290073
nsv214398 CNV insertion 16902084
nsv475109 CNV novel sequence insertion 20440878
nsv512788 CNV insertion 21212237
nsv518307 CNV loss 19592680
nsv834566 CNV loss 17160897
nsv834567 CNV gain 17160897

Variation tolerance for ARMC9 Gene

Residual Variation Intolerance Score: 49.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.73; 57.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARMC9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARMC9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARMC9 Gene

Disorders for ARMC9 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ARMC9 Gene - From: OMIM

Disorder Aliases PubMed IDs
joubert syndrome 30
- elite association - COSMIC cancer census association via MalaCards
Search ARMC9 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ARMC9

Genetic Association Database (GAD)
ARMC9
Human Genome Epidemiology (HuGE) Navigator
ARMC9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARMC9
genes like me logo Genes that share disorders with ARMC9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARMC9 Gene

Publications for ARMC9 Gene

  1. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 60
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for ARMC9 Gene

Sources for ARMC9 Gene

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