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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
  • Armadillo Repeat-Containing Protein 9 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 and Joubert Syndrome 1. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for ARMC9 Gene

Promoters and enhancers for ARMC9 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
GH02J231197 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 670.5 +0.5 499 2.6 ATF1 SMAD1 ARID4B SIN3A DMAP1 IRF4 ZNF48 GLIS2 ZNF207 ZNF143 ARMC9 RPL28P2 DIS3L2 HTR2B NCL GC02P231258 GC02P231267 GC02P231269
GH02J231219 Enhancer 1.2 Ensembl ENCODE dbSUPER 30.5 +23.6 23644 4.6 PKNOX1 CLOCK SMAD1 ARNT STAT5A BMI1 BATF KLF5 ZBTB40 ZNF121 ARMC9 HTR2B ENSG00000233538 SNORD20 SNORA75 PSMD1 RNU2-22P GC02P231267 GC02P231269 GC02P231258
GH02J231189 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 24.7 -7.1 -7072 3.9 CTCF PKNOX1 SAP130 ARID4B ERF CEBPG DMAP1 ZNF48 RBPJ ZSCAN9 HTR2B ARMC9 ENSG00000233538 SNORA75 SNORD20 RNU2-22P RNU1-93P
GH02J231226 Enhancer 1.3 Ensembl ENCODE dbSUPER 17.9 +29.9 29910 3 PKNOX1 ARID4B SIN3A ZNF2 IRF4 ZNF143 ATF7 RUNX3 RXRA SP5 HTR2B ARMC9 ENSG00000233538 SNORA75 SNORD20 NCL RNU2-22P GC02P231269 GC02P231267 GC02P231258
GH02J231407 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12 +212.9 212903 9.3 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 ZNF280A GLIS2 B3GNT7 ARMC9 ENSG00000233538 SNORA75 SNORD20 HTR2B NCL RNU2-22P PSMD1 ENSG00000224376
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ARMC9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ARMC9 gene promoter:

Genomic Locations for ARMC9 Gene

Genomic Locations for ARMC9 Gene
chr2:231,198,546-231,394,991
(GRCh38/hg38)
Size:
196,446 bases
Orientation:
Plus strand
chr2:232,063,260-232,239,548
(GRCh37/hg19)

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:
    • A0A087X1I8
    • Q53TI3
    • Q6P162
    • Q7L594
    • Q86WG2
    • Q96JF9
    • Q9H9R8

    Protein attributes for ARMC9 Gene

    Size:
    818 amino acids
    Molecular mass:
    91819 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB14153.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; 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

Gene Ontology (GO) - Molecular Function for ARMC9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with ARMC9: view
genes like me logo Genes that share phenotypes with ARMC9: view

Human Phenotype Ontology for ARMC9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARMC9

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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 HDA 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARMC9

Clone 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

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 34 33
  • 99.19 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ARMC9 34 33
  • 89.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ARMC9 34 33
  • 87.04 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Armc9 16 34 33
  • 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 34 33
  • 71.81 (n)
OneToOne
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
Cin.13954 33
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)
Aminode:
Evolutionary constrained regions (ECRs) for ARMC9: view image

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 Variation AA Info Type
rs372770167 pathogenic, ARMC9-related Joubert syndrome, JOUBERT SYNDROME 30 231,214,912(+) C/A/T coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, stop_gained, synonymous_variant
rs750247691 pathogenic, ARMC9-related Joubert syndrome, JOUBERT SYNDROME 30 231,214,858(+) G/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs753432312 pathogenic, ARMC9-related Joubert syndrome, JOUBERT SYNDROME 30 231,276,637(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs759799287 pathogenic, ARMC9-related Joubert syndrome, JOUBERT SYNDROME 30 231,262,306(+) C/A/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs780265931 pathogenic, ARMC9-related Joubert syndrome, JOUBERT SYNDROME 30 231,276,775(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_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)

Additional Variant Information for ARMC9 Gene

Human Gene Mutation Database (HGMD)
ARMC9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARMC9

SNP Genotyping and Copy Number Assay Products

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

Disorders for ARMC9 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ARMC9 Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
joubert syndrome 30
  • jbts30
joubert syndrome 1
  • jbts1
vogt-koyanagi-harada disease
  • harada's disease
mucopolysaccharidosis iii
  • sanfilippo syndrome a
- elite association - COSMIC cancer census association via MalaCards
Search ARMC9 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ARMC9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 44 58
  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 44 58
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58
  5. 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

Products for ARMC9 Gene

Sources for ARMC9 Gene

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