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Aliases for ARMC4 Gene

Aliases for ARMC4 Gene

  • Armadillo Repeat Containing 4 2 3 5
  • Testis Tissue Sperm-Binding Protein Li 74n 3
  • Armadillo Repeat-Containing Protein 4 3
  • CILD23 3

External Ids for ARMC4 Gene

Previous GeneCards Identifiers for ARMC4 Gene

  • GC10M028105
  • GC10M028141
  • GC10M028064

Summaries for ARMC4 Gene

Entrez Gene Summary for ARMC4 Gene

  • The protein encoded by this gene contains ten Armadillo repeat motifs (ARMs) and one HEAT repeat, and is thought to be involved in ciliary and flagellar movement. This protein has been shown to localize to the ciliary axonemes and at the ciliary base of respiratory cells. Studies indicate that mutations in this gene cause partial outer dynein arm (ODA) defects in respiratory cilia. The cilia of cells with mutations in this gene displayed either reduced ciliary beat frequency and amplitude, or, complete immotility. Some individuals with primary ciliary dyskensia (PCD) have been shown to have mutations in this gene. PCD is characterized by chronic airway disease and left/right body asymmetry defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

GeneCards Summary for ARMC4 Gene

ARMC4 (Armadillo Repeat Containing 4) is a Protein Coding gene. Diseases associated with ARMC4 include Ciliary Dyskinesia, Primary, 23 and Kartagener Syndrome. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is ARMC3.

UniProtKB/Swiss-Prot for ARMC4 Gene

  • Ciliary protein that may be involved in a late step of axonemal outer dynein arm assembly.

Additional gene information for ARMC4 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARMC4 Gene

Genomics for ARMC4 Gene

GeneHancer (GH) Regulatory Elements for ARMC4 Gene

Promoters and enhancers for ARMC4 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
GH10I027997 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 561 +0.5 470 1.6 SIN3A GLI4 ZNF2 ZNF121 GLIS2 ZNF213 ZNF214 ZNF202 SP3 MCM5 ARMC4 ENSG00000233472 MASTL ANKRD26 GC10P027944
GH10I027558 Enhancer 0.7 ENCODE 10.3 +440.4 440360 0.2 CTCF TFAP4 ESRRA MAX ZIC2 RAD21 RARA CC2D1A GATA3 ZNF143 ANKRD26 ARMC4 LOC105376463 GC10P027538 GC10P027539
GH10I027820 Enhancer 0.7 Ensembl ENCODE 8 +178.7 178696 0.3 NFIL3 JUND NFYB CEBPB FOS MKX MKX-AS1 ARMC4 GC10P027838 RN7SKP132
GH10I027714 Enhancer 0.5 FANTOM5 10.7 +285.0 284984 0.2 ZNF362 ZNF341 SCRT2 RFX5 MKX ARMC4 GC10M027690 MKX-AS1
GH10I028077 Enhancer 0.8 FANTOM5 ENCODE dbSUPER 2.6 -78.9 -78909 1.5 JUND SP7 ARMC4 MRPS21P5 MIR8086 MPP7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ARMC4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ARMC4 gene promoter:

Genomic Locations for ARMC4 Gene

Genomic Locations for ARMC4 Gene
chr10:27,812,164-27,999,067
(GRCh38/hg38)
Size:
186,904 bases
Orientation:
Minus strand
chr10:28,064,115-28,287,977
(GRCh37/hg19)

Genomic View for ARMC4 Gene

Genes around ARMC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARMC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARMC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARMC4 Gene

Proteins for ARMC4 Gene

  • Protein details for ARMC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T2S8-ARMC4_HUMAN
    Recommended name:
    Armadillo repeat-containing protein 4
    Protein Accession:
    Q5T2S8
    Secondary Accessions:
    • A8K906
    • B7Z7I1
    • Q9H0C0

    Protein attributes for ARMC4 Gene

    Size:
    1044 amino acids
    Molecular mass:
    115679 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ARMC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARMC4 Gene

Post-translational modifications for ARMC4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ARMC4 Gene

Domains & Families for ARMC4 Gene

Gene Families for ARMC4 Gene

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

Protein Domains for ARMC4 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ARMC4: view

No data available for UniProtKB/Swiss-Prot for ARMC4 Gene

Function for ARMC4 Gene

Molecular function for ARMC4 Gene

UniProtKB/Swiss-Prot Function:
Ciliary protein that may be involved in a late step of axonemal outer dynein arm assembly.

Phenotypes From GWAS Catalog for ARMC4 Gene

genes like me logo Genes that share phenotypes with ARMC4: view

Human Phenotype Ontology for ARMC4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ARMC4 Gene

Localization for ARMC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARMC4 Gene

Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body.

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 ARMC4 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for ARMC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IBA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
GO:0005930 axoneme IDA 23849778
genes like me logo Genes that share ontologies with ARMC4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ARMC4 Gene

Pathways & Interactions for ARMC4 Gene

SuperPathways for ARMC4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ARMC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003341 cilium movement IMP 23849778
GO:0003356 regulation of cilium beat frequency IMP 24203976
GO:0007368 determination of left/right symmetry IMP,IEA 23849778
GO:0007507 heart development IEA --
GO:0021591 ventricular system development IEA --
genes like me logo Genes that share ontologies with ARMC4: view

No data available for Pathways by source and SIGNOR curated interactions for ARMC4 Gene

Drugs & Compounds for ARMC4 Gene

No Compound Related Data Available

Transcripts for ARMC4 Gene

Unigene Clusters for ARMC4 Gene

Armadillo repeat containing 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARMC4 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b
SP1: - - -
SP2:
SP3:

Relevant External Links for ARMC4 Gene

GeneLoc Exon Structure for
ARMC4
ECgene alternative splicing isoforms for
ARMC4

Expression for ARMC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ARMC4 Gene

mRNA differential expression in normal tissues according to GTEx for ARMC4 Gene

This gene is overexpressed in Testis (x19.7) and Pituitary (x4.5).

Protein differential expression in normal tissues from HIPED for ARMC4 Gene

This gene is overexpressed in Lung (51.5) and Testis (15.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ARMC4 Gene



Protein tissue co-expression partners for ARMC4 Gene

NURSA nuclear receptor signaling pathways regulating expression of ARMC4 Gene:

ARMC4

SOURCE GeneReport for Unigene cluster for ARMC4 Gene:

Hs.127530

mRNA Expression by UniProt/SwissProt for ARMC4 Gene:

Q5T2S8-ARMC4_HUMAN
Tissue specificity: Expressed in respiratory epithelial cells (at protein level).

Evidence on tissue expression from TISSUES for ARMC4 Gene

  • Nervous system(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ARMC4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • sinus
  • skull
Thorax:
  • bronchus
  • lung
  • trachea
Abdomen:
  • spleen
Pelvis:
  • ovary
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • white blood cell
genes like me logo Genes that share expression patterns with ARMC4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ARMC4 Gene

Orthologs for ARMC4 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARMC4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARMC4 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 34
  • 94 (a)
OneToMany
ARMC4 33
  • 87.1 (n)
-- 34
  • 85 (a)
OneToMany
-- 34
  • 83 (a)
OneToMany
-- 34
  • 80 (a)
OneToMany
-- 34
  • 78 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ARMC4 33 34
  • 85.69 (n)
oppossum
(Monodelphis domestica)
Mammalia ARMC4 34
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Armc4 33 16 34
  • 82.53 (n)
rat
(Rattus norvegicus)
Mammalia Armc4 33
  • 81.69 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ARMC4 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARMC4 33 34
  • 70.7 (n)
lizard
(Anolis carolinensis)
Reptilia ARMC4 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia armc4 33
  • 67.12 (n)
Str.11491 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.23564 33
zebrafish
(Danio rerio)
Actinopterygii armc4 33 34
  • 61.96 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008223 33
  • 55.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5155 33 34
  • 52.37 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 60 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7233 33
Species where no ortholog for ARMC4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for ARMC4 Gene

ENSEMBL:
Gene Tree for ARMC4 (if available)
TreeFam:
Gene Tree for ARMC4 (if available)

Paralogs for ARMC4 Gene

Paralogs for ARMC4 Gene

(4) SIMAP similar genes for ARMC4 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for ARMC4 Gene

genes like me logo Genes that share paralogs with ARMC4: view

Variants for ARMC4 Gene

Sequence variations from dbSNP and Humsavar for ARMC4 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1060503678 uncertain-significance, Primary ciliary dyskinesia 23 27,939,983(-) C/T coding_sequence_variant, missense_variant
rs1060504993 likely-benign, Primary ciliary dyskinesia 23 27,961,676(-) G/A 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant
rs111586634 benign, Primary ciliary dyskinesia 23 27,936,851(-) G/A 3_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs111982349 benign, Primary ciliary dyskinesia 23 27,961,682(-) G/A/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, synonymous_variant
rs117723546 benign, Primary ciliary dyskinesia 23 27,971,233(-) G/A 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for ARMC4 Gene

Variant ID Type Subtype PubMed ID
esv2734606 CNV deletion 23290073
esv2734739 CNV deletion 23290073
esv2734750 CNV deletion 23290073
esv2734761 CNV deletion 23290073
esv3307456 CNV mobile element insertion 20981092
esv3324500 CNV insertion 20981092
esv3437 CNV loss 18987735
esv3546069 CNV deletion 23714750
esv3578743 CNV loss 25503493
esv3622735 CNV loss 21293372
esv3622736 CNV loss 21293372
esv6382 CNV loss 19470904
nsv1052182 CNV gain 25217958
nsv1077318 CNV duplication 25765185
nsv25294 CNV deletion 16902084
nsv550283 CNV loss 21841781
nsv831813 CNV loss 17160897
nsv831815 CNV loss 17160897
nsv947792 CNV duplication 23825009

Variation tolerance for ARMC4 Gene

Residual Variation Intolerance Score: 48.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.67; 82.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARMC4 Gene

Human Gene Mutation Database (HGMD)
ARMC4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARMC4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARMC4 Gene

Disorders for ARMC4 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ARMC4 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 23
  • cild23
kartagener syndrome
  • kartagener's syndrome
ciliary dyskinesia, primary, 1
  • pcd
hypertrophy of breast
  • breasts enlarged
primary ciliary dyskinesia
  • ciliary motility disorder
- elite association - COSMIC cancer census association via MalaCards
Search ARMC4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ARMC4_HUMAN
  • Ciliary dyskinesia, primary, 23 (CILD23) [MIM:615451]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269 PubMed:23849778, ECO:0000269 PubMed:25186273}. Note=The disease is caused by mutations affecting the gene represented in this entry. Contrary to the wild-type protein, disease-causing variant Trp-927 is unable to rescue the phenotype (randomization of heart looping) of the morpholino knockdown of the orthologous protein in zebrafish (PubMed:23849778). {ECO:0000269 PubMed:23849778}.

Additional Disease Information for ARMC4

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 ARMC4: view

No data available for Genatlas for ARMC4 Gene

Publications for ARMC4 Gene

  1. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4 58
  2. Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. (PMID: 25186273) Raidt J … Werner C (The European respiratory journal 2014) 3 4 58
  3. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. (PMID: 23849778) Hjeij R … Omran H (American journal of human genetics 2013) 3 4 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 44 58

Products for ARMC4 Gene

Sources for ARMC4 Gene

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