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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. Among its related pathways are Aldosterone synthesis and secretion. Gene Ontology (GO) annotations related to this gene include binding.

UniProtKB/Swiss-Prot for ARMC5 Gene

  • Involved in fetal development, T-cell function and adrenal gland growth homeostasis (By similarity). Negatively regulates adrenal cells survival. Plays a role in steroidogenesis, modulates steroidogenic enzymes expression and cortisol production (PubMed:24283224, PubMed:28676429).

Additional gene information for ARMC5 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARMC5 Gene

Genomics for ARMC5 Gene

GeneHancer (GH) Regulatory Elements for ARMC5 Gene

Promoters and enhancers for ARMC5 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
GH16J031456 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 672.3 +0.7 749 4.9 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 ARMC5 ENSG00000260267 GC16M031449 GC16M031458 PIR46378 SETD1A FUS SRCAP ZNF720 ZNF785
GH16J030566 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10 -888.2 -888206 6 ZFP64 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 SP3 ZNF688 SETD1A SRCAP ENSG00000260267 NPIPB13 INO80E ZNF764 ZNF747 SMG1P5 SMG1P2
GH16J031873 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.1 +418.2 418206 6.5 HDGF PKNOX1 FOXA2 SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF267 PIR46248 ARMC5 CLUHP3 GC16M031894
GH16J030533 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.9 -923.1 -923137 3.7 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ENSG00000235560 ZNF747 ENSG00000261459 INO80E FUS SETD1A SRCAP ENSG00000260267 FBRS SMG1P5
GH16J031071 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.9 -384.4 -384440 5 CLOCK MLX ZFP64 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF646 ZNF668 PIR38332 PIR37153 SETD1A SRCAP ZNF785 KAT8 RNF40 FBRS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARMC5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ARMC5 gene promoter:
  • HNF-4alpha2
  • HNF-4alpha1
  • COUP-TF1
  • COUP-TF
  • COUP

Genomic Locations for ARMC5 Gene

Genomic Locations for ARMC5 Gene
chr16:31,458,080-31,467,167
(GRCh38/hg38)
Size:
9,088 bases
Orientation:
Plus strand
chr16:31,469,401-31,478,488
(GRCh37/hg19)
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 Lys294 and posLast=166166
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ARMC5 Gene

Domains & Families for ARMC5 Gene

Gene Families for ARMC5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

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

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

No data available for UniProtKB/Swiss-Prot for ARMC5 Gene

Function for ARMC5 Gene

Molecular function for ARMC5 Gene

UniProtKB/Swiss-Prot Function:
Involved in fetal development, T-cell function and adrenal gland growth homeostasis (By similarity). Negatively regulates adrenal cells survival. Plays a role in steroidogenesis, modulates steroidogenic enzymes expression and cortisol production (PubMed:24283224, PubMed:28676429).

Phenotypes From GWAS Catalog for ARMC5 Gene

Gene Ontology (GO) - Molecular Function for ARMC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with ARMC5: view
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
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 ARMC5 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Focal adhesion sites (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARMC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IMP 24283224
GO:0005829 cytosol IDA --
GO:0005925 focal adhesion IDA --
genes like me logo Genes that share ontologies with ARMC5: view

Pathways & Interactions for ARMC5 Gene

SuperPathways for ARMC5 Gene

SuperPathway Contained pathways
1 Aldosterone synthesis and secretion
genes like me logo Genes that share pathways with ARMC5: view

Pathways by source for ARMC5 Gene

1 KEGG pathway for ARMC5 Gene

Interacting Proteins for ARMC5 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000268314%0d%0a9606.ENSP00000337759%0d%0a9606.ENSP00000355205%0d%0a
Selected Interacting proteins: Q96C12-ARMC5_HUMAN ENSP00000268314 for ARMC5 Gene via IID STRING

Gene Ontology (GO) - Biological Process for ARMC5 Gene

None

No data available for 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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for ARMC5 Gene

  • Nervous system(4.5)
  • Skin(4.4)
  • Spleen(4.1)
  • Lung(2.8)
  • Adrenal gland(2.6)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ARMC5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • kidney
  • pancreas
Pelvis:
  • ovary
  • pelvis
  • penis
  • ureter
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with ARMC5: view

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 34
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ARMC5 34 33
  • 85.5 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ARMC5 34 33
  • 85.39 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Armc5 16 34 33
  • 83.12 (n)
rat
(Rattus norvegicus)
Mammalia Armc5 33
  • 82.94 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ARMC5 34
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARMC5 34
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARMC5 34
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia armc5 33
  • 52.93 (n)
zebrafish
(Danio rerio)
Actinopterygii armc5 34 33
  • 49.75 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for ARMC5: view image

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 Variation AA Info Type
rs114930262 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] 31,459,990(+) C/G/T coding_sequence_variant, missense_variant
rs200951744 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] 31,466,273(+) C/G 3_prime_UTR_variant, coding_sequence_variant, missense_variant
rs35461188 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] 31,462,515(+) G/C coding_sequence_variant, missense_variant
rs369721476 pathogenic, Acth-independent macronodular adrenal hyperplasia 2 31,462,346(+) C/T coding_sequence_variant, stop_gained
rs370836071 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] 31,465,913(+) C/T 3_prime_UTR_variant, coding_sequence_variant, missense_variant

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)

Additional Variant Information for ARMC5 Gene

Human Gene Mutation Database (HGMD)
ARMC5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARMC5

SNP Genotyping and Copy Number Assay Products

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

Disorders for ARMC5 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ARMC5 Gene - From: HGMD, OMIM, ClinVar, GTR, 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
  • aimah1
adrenal cortex disease
  • adrenal cortex diseases
adrenal gland disease
  • abnormality of the adrenal glands
- 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:24708098, ECO:0000269 PubMed:24905064, ECO:0000269 PubMed:25822102, ECO:0000269 PubMed:25853793, ECO:0000269 PubMed:26604299, ECO:0000269 PubMed:27094308, ECO:0000269 PubMed:28458897, ECO:0000269 PubMed:28676429}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for 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. A multicenter experience on the prevalence of ARMC5 mutations in patients with primary bilateral macronodular adrenal hyperplasia: from genetic characterization to clinical phenotype. (PMID: 27094308) Albiger NM … Scaroni C (Endocrine 2017) 3 4 58
  2. ARMC5 mutation analysis in patients with primary aldosteronism and bilateral adrenal lesions. (PMID: 26446392) Mulatero P … Fallo F (Journal of human hypertension 2016) 3 4 58
  3. ARMC5 mutations in a large French-Canadian family with cortisol-secreting β-adrenergic/vasopressin responsive bilateral macronodular adrenal hyperplasia. (PMID: 26604299) Bourdeau I … Lacroix A (European journal of endocrinology 2016) 3 4 58
  4. Primary Aldosteronism and ARMC5 Variants. (PMID: 25822102) Zilbermint M … Stratakis CA (The Journal of clinical endocrinology and metabolism 2015) 3 4 58
  5. ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences. (PMID: 25853793) Espiard S … Bertherat J (The Journal of clinical endocrinology and metabolism 2015) 3 4 58

Products for ARMC5 Gene

Sources for ARMC5 Gene

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