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Aliases for ARMC4 Gene

Aliases for ARMC4 Gene

  • Armadillo Repeat Containing 4 2 3
  • CILD23 3 6
  • Armadillo Repeat-Containing Protein 4 3

External Ids for ARMC4 Gene

Summaries for ARMC4 Gene

GeneCards Summary for ARMC4 Gene

ARMC4 (Armadillo Repeat Containing 4) is a Protein Coding gene. Diseases associated with ARMC4 include ciliary dyskinesia, primary, 23. 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 Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARMC4 Gene

Genomics for ARMC4 Gene

Genomic Location for ARMC4 Gene

Start:
27,812,164 bp from pter
End:
27,999,048 bp from pter
Size:
186,885 bases
Orientation:
Minus strand

Genomic View for ARMC4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ARMC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARMC4 Gene

Regulatory Elements 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

Proteomics data for ARMC4 Gene at MOPED

Post-translational modifications for ARMC4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ARMC4 Gene

No data available for DME Specific Peptides for ARMC4 Gene

Domains for ARMC4 Gene

Gene Families for ARMC4 Gene

HGNC:
  • ARMC :Armadillo repeat containing

Protein Domains for ARMC4 Gene

Graphical View of Domain Structure for InterPro Entry

Q5T2S8

UniProtKB/Swiss-Prot:

ARMC4_HUMAN
Similarity:
  • Contains 10 ARM repeats.:
    • Q5T2S8
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.

Gene Ontology (GO) - Molecular Function for ARMC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with ARMC4: view
genes like me logo Genes that share phenotypes with ARMC4: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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
cytosol 3
nucleus 2

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:0005856 cytoskeleton IEA --
GO:0005930 axoneme IDA 23849778
GO:0097546 ciliary base IDA 23849778
genes like me logo Genes that share ontologies with ARMC4: view

Pathways 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 IEA --
GO:0021591 ventricular system development IEA --
GO:0030030 cell projection organization IEA --
GO:0036158 outer dynein arm assembly IEA --
GO:0070986 left/right axis specification IEA --
genes like me logo Genes that share ontologies with ARMC4: view

No data available for Pathways by source for ARMC4 Gene

Transcripts for ARMC4 Gene

Unigene Clusters for ARMC4 Gene

Armadillo repeat containing 4:
Representative Sequences:

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 (19.7) and Pituitary (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for ARMC4 Gene

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 expressions 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 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ARMC4 35
  • 85.69 (n)
  • 86.55 (a)
ARMC4 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 83 (a)
OneToMany
-- 36
  • 85 (a)
OneToMany
-- 36
  • 80 (a)
OneToMany
-- 36
  • 94 (a)
OneToMany
-- 36
  • 78 (a)
OneToMany
ARMC4 35
  • 87.1 (n)
  • 85.91 (a)
mouse
(Mus musculus)
Mammalia Armc4 35
  • 82.53 (n)
  • 85.98 (a)
Armc4 16
Armc4 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARMC4 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARMC4 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Armc4 35
  • 81.69 (n)
  • 85.49 (a)
chicken
(Gallus gallus)
Aves ARMC4 35
  • 70.7 (n)
  • 68.57 (a)
ARMC4 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARMC4 36
  • 69 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.23564 35
tropical clawed frog
(Silurana tropicalis)
Amphibia armc4 35
  • 67.12 (n)
  • 68.56 (a)
Str.11491 35
zebrafish
(Danio rerio)
Actinopterygii armc4 35
  • 61.96 (n)
  • 61.2 (a)
armc4 36
  • 57 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008223 35
  • 55.07 (n)
  • 52.94 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5155 35
  • 52.37 (n)
  • 46.9 (a)
CG5155 36
  • 43 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7233 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 60 (a)
OneToOne
Species with no ortholog for ARMC4:
  • 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

Selected 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 MAF
rs200517 -- 27,872,320(-) aaaga(C/G)gaagt intron-variant
rs200518 -- 27,872,033(-) ctgct(C/T)aagga intron-variant
rs394249 -- 27,872,822(-) aacca(A/T)aaaag intron-variant
rs880706 -- 27,904,958(-) ATTTA(G/T)GTTAA intron-variant
rs880707 -- 27,904,011(+) TACCT(G/T)TTGCC intron-variant

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

Variant ID Type Subtype PubMed ID
esv2734606 CNV Deletion 23290073
nsv831813 CNV Loss 17160897
esv3437 CNV Deletion 18987735
esv2734739 CNV Deletion 23290073
esv6382 CNV Loss 19470904
nsv25294 CNV Loss 16902084
nsv894987 CNV Gain 21882294
esv2734750 CNV Deletion 23290073
esv271730 CNV Insertion 20981092
nsv831815 CNV Loss 17160897
esv2734761 CNV Deletion 23290073

Relevant External Links for ARMC4 Gene

HapMap Linkage Disequilibrium report
ARMC4
Human Gene Mutation Database (HGMD)
ARMC4

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

Disorders for ARMC4 Gene

(1) OMIM Diseases for ARMC4 Gene (615408)

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

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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4
  4. 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 48
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48

Products for ARMC4 Gene

Sources for ARMC4 Gene

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