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Aliases for ARMC5 Gene

Aliases for ARMC5 Gene

  • Armadillo Repeat Containing 5 2 3 5
  • Armadillo Repeat-Containing Protein 5 3
  • 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

Enhancers for ARMC5 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
GH16F031868 1.2 FANTOM5 Ensembl ENCODE 15.8 +411.8 411821 3.0 ATF1 PKNOX1 ARNT YBX1 FEZF1 YY1 ZNF766 ZNF143 FOS SP3 CLUHP3 ZNF267 ARMC5 ZNF720 ENSG00000259874 RBM22P13
GH16F031427 0.5 ENCODE 11.8 -28.7 -28671 4.5 HDGF ATF1 CREB3L1 SIN3A DMAP1 ZNF2 ZNF48 YY1 ZNF143 ZNF548 ZNF747 LOC105371171 ZNF785 ENSG00000260267 MIR762HG ENSG00000260304 ZNF720 ARMC5 PYDC1 PRSS8
GH16F031404 1.4 Ensembl ENCODE 11.1 -53.4 -53425 1.3 TBP PKNOX1 ZNF76 KLF17 ZBTB40 ZNF366 ZNF143 EGR2 SP3 NFYA COX6A2 PRSS8 ARMC5 PRSS36 PYCARD STX4 STX1B LOC105371171 ENSG00000260757 ENSG00000277543
GH16F031403 0.6 Ensembl 11.1 -54.4 -54380 0.2 ZNF263 ZNF600 EGR2 COX6A2 PRSS8 ARMC5 PRSS36 PYCARD STX4 STX1B ZNF843 ENSG00000260757 ENSG00000277543
GH16F031399 0.2 Ensembl 11.1 -57.7 -57680 1.2 GATA3 MAX MYC STX4 COX6A2 LOC105371171 PRSS8 ARMC5 PRSS36 PYCARD STX1B ENSG00000260757 GC16P031393
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ARMC5 on UCSC Golden Path with GeneCards custom track

Promoters for ARMC5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000199949 1120 2801 HDGF CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1

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

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

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

Inhibitory RNA Products

Flow Cytometry 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

Gene Ontology (GO) - Cellular Components for ARMC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IMP 24283224
genes like me logo Genes that share ontologies with ARMC5: view

Pathways & Interactions for ARMC5 Gene

SuperPathways for ARMC5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ARMC5 Gene

None

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

Transcripts for ARMC5 Gene

Unigene Clusters for ARMC5 Gene

Armadillo repeat containing 5:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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



NURSA nuclear receptor signaling pathways regulating expression of ARMC5 Gene:

ARMC5

SOURCE GeneReport for Unigene cluster for ARMC5 Gene:

Hs.732945
genes like me logo Genes that share expression patterns with ARMC5: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia ARMC5 35
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ARMC5 34 35
  • 85.5 (n)
dog
(Canis familiaris)
Mammalia ARMC5 34 35
  • 85.39 (n)
mouse
(Mus musculus)
Mammalia Armc5 34 16 35
  • 83.12 (n)
rat
(Rattus norvegicus)
Mammalia Armc5 34
  • 82.94 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ARMC5 35
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARMC5 35
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARMC5 35
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia armc5 34
  • 52.93 (n)
zebrafish
(Danio rerio)
Actinopterygii armc5 34 35
  • 49.75 (n)
Species where no ortholog for ARMC5 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)
  • 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
rs114930262 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] 31,459,990(+) GCATA(C/G/T)TCCCT reference, missense
rs587777659 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954], Pathogenic 31,466,773(+) GGAAG(C/T)GGGGT reference, missense, utr-variant-3-prime
rs587777661 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954], Pathogenic 31,464,666(+) GGCGC(C/T)GTACG reference, missense
rs587777662 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954], Pathogenic 31,464,800(+) TGCTG(C/T)GGGCC reference, missense
VAR_072355 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]

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

Variant ID Type Subtype PubMed ID
esv3570465 CNV gain 25503493
nsv833194 CNV loss 17160897

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

Human Gene Mutation Database (HGMD)
ARMC5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
  • primary macronodular adrenal hyperplasia
cushing syndrome due to macronodular adrenal hyperplasia
  • primary bilateral macronodular adrenal hyperplasia
acth-independent macronodular adrenal hyperplasia
  • acth-independent macronodular adrenocortical hyperplasia
cushing's syndrome
  • adrenal cortical adenoma
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 64
  2. ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia. (PMID: 24905064) Gagliardi L. … Scott H.S. (J. Clin. Endocrinol. Metab. 2014) 3 4 64
  3. ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome. (PMID: 24283224) AssiAc G. … Bertherat J. (N. Engl. J. Med. 2013) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. ARMC5 mutations in a large French-Canadian family with cortisol-secreting I^-adrenergic/vasopressin responsive bilateral macronodular adrenal hyperplasia. (PMID: 26604299) Bourdeau I. … Lacroix A. (Eur. J. Endocrinol. 2016) 3 64

Products for ARMC5 Gene

Sources for ARMC5 Gene

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