Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ARMC5 Gene

Aliases for ARMC5 Gene

  • Armadillo Repeat Containing 5 2 3 5
  • AIMAH2 3

External Ids for ARMC5 Gene

Previous GeneCards Identifiers for ARMC5 Gene

  • GC16P031507
  • GC16P031377
  • GC16P029030

Summaries for ARMC5 Gene

Entrez Gene Summary for ARMC5 Gene

  • This gene encodes a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is implicated in mediating protein-protein interactions. The encoded protein contains seven ARM repeats. Mutations in this gene are associated with primary bilateral macronodular adrenal hyperplasia, which is also known as ACTH-independent macronodular adrenal hyperplasia 2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]

GeneCards Summary for ARMC5 Gene

ARMC5 (Armadillo Repeat Containing 5) is a Protein Coding gene. Diseases associated with ARMC5 include acth-independent macronodular adrenal hyperplasia 2 and cushing syndrome due to macronodular adrenal hyperplasia. GO annotations related to this gene include binding.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARMC5 Gene

Genomics for ARMC5 Gene

Regulatory Elements for ARMC5 Gene

Promoters for ARMC5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ARMC5 on UCSC Golden Path with GeneCards custom track

Genomic Location for ARMC5 Gene

Chromosome:
16
Start:
31,458,080 bp from pter
End:
31,467,167 bp from pter
Size:
9,088 bases
Orientation:
Plus strand

Genomic View for ARMC5 Gene

Genes around ARMC5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARMC5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARMC5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARMC5 Gene

Proteins for ARMC5 Gene

  • Protein details for ARMC5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96C12-ARMC5_HUMAN
    Recommended name:
    Armadillo repeat-containing protein 5
    Protein Accession:
    Q96C12
    Secondary Accessions:
    • Q86WM9
    • Q9H7P8
    • Q9H925

    Protein attributes for ARMC5 Gene

    Size:
    935 amino acids
    Molecular mass:
    97682 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB15720.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ARMC5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARMC5 Gene

Proteomics data for ARMC5 Gene at MOPED

Post-translational modifications for ARMC5 Gene

  • Ubiquitination at Lys 166 and Lys 294
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ARMC5 Gene

Domains & Families for ARMC5 Gene

Gene Families for ARMC5 Gene

Protein Domains for ARMC5 Gene

Suggested Antigen Peptide Sequences for ARMC5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96C12

UniProtKB/Swiss-Prot:

ARMC5_HUMAN :
  • Contains 1 BTB (POZ) domain.
  • Contains 7 ARM repeats.
Domain:
  • Contains 1 BTB (POZ) domain.
Similarity:
  • Contains 7 ARM repeats.
genes like me logo Genes that share domains with ARMC5: view

Function for ARMC5 Gene

Phenotypes for ARMC5 Gene

genes like me logo Genes that share phenotypes with ARMC5: view

Human Phenotype Ontology for ARMC5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ARMC5 Gene

Localization for ARMC5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARMC5 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ARMC5 Gene COMPARTMENTS Subcellular localization image for ARMC5 gene
Compartment Confidence
cytosol 2
nucleus 2
extracellular 1
lysosome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for ARMC5 Gene

Pathways & Interactions for ARMC5 Gene

SuperPathways for ARMC5 Gene

No Data Available

Interacting Proteins for ARMC5 Gene

Gene Ontology (GO) - Biological Process for ARMC5 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ARMC5 Gene

Drugs & Compounds for ARMC5 Gene

No Compound Related Data Available

Transcripts for ARMC5 Gene

Unigene Clusters for ARMC5 Gene

Armadillo repeat containing 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ARMC5 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c
SP1: - -
SP2: -
SP3: - -
SP4:
SP5:

Relevant External Links for ARMC5 Gene

GeneLoc Exon Structure for
ARMC5
ECgene alternative splicing isoforms for
ARMC5

Expression for ARMC5 Gene

mRNA expression in normal human tissues for ARMC5 Gene

Protein differential expression in normal tissues from HIPED for ARMC5 Gene

This gene is overexpressed in Esophagus (25.0), Lung (15.7), and Placenta (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ARMC5 Gene



SOURCE GeneReport for Unigene cluster for ARMC5 Gene Hs.732945

genes like me logo Genes that share expression patterns with ARMC5: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for ARMC5 Gene

Orthologs for ARMC5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ARMC5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ARMC5 35
  • 85.5 (n)
  • 88.85 (a)
ARMC5 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARMC5 35
  • 85.39 (n)
  • 89.15 (a)
ARMC5 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Armc5 35
  • 83.12 (n)
  • 86.8 (a)
Armc5 16
Armc5 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Armc5 35
  • 82.94 (n)
  • 85.82 (a)
oppossum
(Monodelphis domestica)
Mammalia ARMC5 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARMC5 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ARMC5 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARMC5 36
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia armc5 35
  • 52.93 (n)
  • 46.77 (a)
zebrafish
(Danio rerio)
Actinopterygii armc5 35
  • 49.75 (n)
  • 44.15 (a)
armc5 36
  • 26 (a)
OneToOne
Species with no ortholog for ARMC5:
  • 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)
  • chicken (Gallus gallus)
  • 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 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 ARMC5 Gene

ENSEMBL:
Gene Tree for ARMC5 (if available)
TreeFam:
Gene Tree for ARMC5 (if available)

Paralogs for ARMC5 Gene

No data available for Paralogs for ARMC5 Gene

Variants for ARMC5 Gene

Sequence variations from dbSNP and Humsavar for ARMC5 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs35923277 - 31,461,954(-) CTGGA(C/T)GCTGT reference, missense
VAR_072352 -
VAR_072353 -
VAR_072354 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2)
VAR_072355 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2)

Structural Variations from Database of Genomic Variants (DGV) for ARMC5 Gene

Variant ID Type Subtype PubMed ID
nsv833194 CNV Loss 17160897
nsv905747 CNV Gain 21882294
dgv2673n71 CNV Loss 21882294
nsv905751 CNV Loss 21882294

Variation tolerance for ARMC5 Gene

Residual Variation Intolerance Score: 62.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.25; 70.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARMC5 Gene

HapMap Linkage Disequilibrium report
ARMC5
Human Gene Mutation Database (HGMD)
ARMC5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARMC5 Gene

Disorders for ARMC5 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ARMC5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
acth-independent macronodular adrenal hyperplasia 2
  • acth-independent macronodular adrenal hyperplasia
cushing syndrome due to macronodular adrenal hyperplasia
  • primary bilateral macronodular adrenal hyperplasia
acth-independent macronodular adrenal hyperplasia
  • acth-independent macronodular adrenal hyperplasia 2
cushing's syndrome
  • cushing syndrome
adrenal cortex disease
  • disorder of adrenal cortex
- elite association - COSMIC cancer census association via MalaCards
Search ARMC5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ARMC5_HUMAN
  • ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]: A form of macronodular adrenal hyperplasia characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. {ECO:0000269 PubMed:24283224, ECO:0000269 PubMed:24601692, ECO:0000269 PubMed:24905064}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ARMC5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARMC5
genes like me logo Genes that share disorders with ARMC5: view

No data available for Genatlas for ARMC5 Gene

Publications for ARMC5 Gene

  1. Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation. (PMID: 24601692) Faucz F.R. … Stratakis C.A. (J. Clin. Endocrinol. Metab. 2014) 3 4 67
  2. Primary Aldosteronism and ARMC5 Variants. (PMID: 25822102) Zilbermint M. … Stratakis C.A. (J. Clin. Endocrinol. Metab. 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences. (PMID: 25853793) Espiard S. … Bertherat J. (J. Clin. Endocrinol. Metab. 2015) 3
  5. ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia. (PMID: 24905064) Gagliardi L. … Scott H.S. (J. Clin. Endocrinol. Metab. 2014) 3

Products for ARMC5 Gene

Sources for ARMC5 Gene

Back to Top

Content