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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 Primary Ciliary Dyskinesia23: Armc4-Related Primary Ciliary Dyskinesia. 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.

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

Genomics for ARMC4 Gene

Regulatory Elements for ARMC4 Gene

Enhancers for ARMC4 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
GH10F027713 1 FANTOM5 Ensembl 10.7 +284.7 284707 0.9 ZNF362 SCRT2 ZNF341 RFX5 MKX MKX-AS1 ARMC4 GC10M027690
GH10F027820 1.3 Ensembl ENCODE 8 +178.7 178697 0.3 JUND NFYB CEBPB FOS MKX MKX-AS1 ARMC4 GC10P027838 RN7SKP132
GH10F027618 0.6 Ensembl ENCODE 5.1 +378.5 378454 3.3 GATA3 POLR2A PTCHD3 ARMC4 LOC105376463 GC10M027690
GH10F028077 1 FANTOM5 ENCODE 2.6 -78.9 -78910 1.5 ELF3 SOX13 TFAP4 CEBPG ZIC2 RAD21 YY1 CREM GATAD2A HLF ARMC4 MRPS21P5 MIR8086
GH10F027997 0.5 ENCODE 0.8 +0.5 512 1.5 ZNF76 GLI4 ZNF2 ZNF121 GLIS2 ZNF366 SCRT2 ZNF391 EGR2 ZNF202 ARMC4 GC10P027944
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ARMC4 on UCSC Golden Path with GeneCards custom track

Promoters for ARMC4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000115726 366 1399 ZNF76 GLI4 ZNF2 ZNF121 GLIS2 ZNF366 SCRT2 ZNF391 EGR2 ZNF202

Genomic Location for ARMC4 Gene

Chromosome:
10
Start:
27,812,164 bp from pter
End:
27,999,067 bp from pter
Size:
186,904 bases
Orientation:
Minus strand

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

Protein Domains for ARMC4 Gene

Graphical View of Domain Structure for InterPro Entry

Q5T2S8

UniProtKB/Swiss-Prot:

ARMC4_HUMAN :
  • Contains 10 ARM repeats.
Similarity:
  • Contains 10 ARM repeats.
genes like me logo Genes that share domains with ARMC4: view

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.
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

Animal Model Products

Inhibitory RNA Products

Flow Cytometry 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
Jensen Localization Image for ARMC4 Gene COMPARTMENTS Subcellular localization image for ARMC4 gene
Compartment Confidence
nucleus 5
cytoskeleton 3
cytosol 3

Gene Ontology (GO) - Cellular Components for ARMC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IBA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with ARMC4: view

Pathways & Interactions for ARMC4 Gene

SuperPathways for ARMC4 Gene

No Data Available

Interacting Proteins for ARMC4 Gene

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 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

Transcripts for ARMC4 Gene

Unigene Clusters for ARMC4 Gene

Armadillo repeat containing 4:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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 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).
genes like me logo Genes that share expression patterns with ARMC4: view

Primer Products

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 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 35
  • 94 (a)
OneToMany
ARMC4 34
  • 87.1 (n)
-- 35
  • 85 (a)
OneToMany
-- 35
  • 83 (a)
OneToMany
-- 35
  • 80 (a)
OneToMany
-- 35
  • 78 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ARMC4 34 35
  • 85.69 (n)
oppossum
(Monodelphis domestica)
Mammalia ARMC4 35
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Armc4 34 16 35
  • 82.53 (n)
rat
(Rattus norvegicus)
Mammalia Armc4 34
  • 81.69 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ARMC4 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARMC4 34 35
  • 70.7 (n)
lizard
(Anolis carolinensis)
Reptilia ARMC4 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia armc4 34
  • 67.12 (n)
Str.11491 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.23564 34
zebrafish
(Danio rerio)
Actinopterygii armc4 34 35
  • 61.96 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008223 34
  • 55.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5155 34 35
  • 52.37 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 60 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7233 34
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 Sequence Context AA Info Type
rs587777047 Ciliary dyskinesia, primary, 23 (CILD23) [MIM:615451], Pathogenic 27,862,453(+) TGGAC(A/C)ATAAA reference, missense
rs145742175 Pathogenic 27,944,296(+) AGTCT(A/C/T)GGCTG intron-variant, reference, missense, stop-gained
rs201213030 Pathogenic 27,936,759(+) ATTTC(C/T)ATATA downstream-variant-500B, reference, stop-gained
rs587777048 Pathogenic 27,862,521(+) GTAAT(-/G)GCAGC reference, frameshift-variant
rs587777049 Pathogenic 27,862,558(+) TATCT(G/T)ATTTC reference, stop-gained

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)

Relevant External Links for ARMC4 Gene

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

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

Disorders for ARMC4 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ARMC4 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 23
  • primary ciliary dyskinesia 23
primary ciliary dyskinesia23: armc4-related primary ciliary dyskinesia
  • ciliary dyskinesia, primary, 23
bronchiectasis
  • kartagener syndrome
kartagener syndrome
  • kartagener's syndrome
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}.

Relevant External Links for ARMC4

Genetic Association Database (GAD)
ARMC4
Human Genome Epidemiology (HuGE) Navigator
ARMC4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARMC4
genes like me logo Genes that share disorders with ARMC4: view

No data available for Genatlas for ARMC4 Gene

Publications for ARMC4 Gene

  1. Towards 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 Res. 2001) 2 3 4 64
  2. Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. (PMID: 25186273) Raidt J. … Werner C. (Eur. Respir. J. 2014) 3 4 64
  3. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. (PMID: 23849778) Hjeij R. … Omran H. (Am. J. Hum. Genet. 2013) 3 4 64
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64

Products for ARMC4 Gene

Sources for ARMC4 Gene

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