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 ci... See more...

Aliases for ARMC4 Gene

Aliases for ARMC4 Gene

  • Armadillo Repeat Containing 4 2 3 5
  • Armadillo Repeat-Containing Protein 4 3 4
  • Testis Tissue Sperm-Binding Protein Li 74n 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 Dyskinesia. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is ARMC3.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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
GH10J027997 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 +0.4 366 2.2 ZNF121 BCL6B SP7 PRDM1 MCM2 ZNF560 KLF14 GLIS2 ZIC2 ZBTB8A ARMC4 ENSG00000233472 MASTL ANKRD26 NONHSAG005473.2
GH10J027998 Enhancer 0.2 Ensembl 750.6 +2.0 1966 0.2 ARMC4 MASTL NONHSAG005473.2
GH10J028675 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.5 -680.5 -680464 7.7 SP1 ZBTB40 CTCF RBPJ SMARCE1 POLR2A USF2 CTBP1 NR2F6 MIXL1 BAMBI WAC-AS1 ARMC4 RNU6-270P LYZL1 WAC piR-50444-041
GH10J027656 Enhancer 1 Ensembl ENCODE 11.6 +342.3 342266 0.8 CTCF ZNF133 CC2D1A RAD21 GTF2F1 SP7 ZSCAN21 ZNF24 ARID2 REST MASTL YME1L1 ARMC4 WAC-AS1 PTCHD3 piR-43676-004 piR-40110-060
GH10J027820 Enhancer 0.6 Ensembl ENCODE 8 +178.7 178743 0.6 CEBPB JUND NFYB NFIL3 FOS MKX MKX-AS1 ARMC4 lnc-ARMC4-2 piR-43105-047
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARMC4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ARMC4 gene promoter:
  • aMEF-2
  • Bach2
  • MEF-2
  • MEF-2A
  • Nkx2-5
  • Nkx6-1
  • Pbx1a
  • POU2F1
  • POU2F1a

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)
Size:
223,863 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

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

Protein Domains for ARMC4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ARMC4 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ75375, highly similar to Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA (A8K906_HUMAN)
  • Armadillo repeat-containing protein 4 (ARMC4_HUMAN)
  • cDNA FLJ52356, highly similar to Armadillo repeat-containing protein 4 (B7Z7I1_HUMAN)
genes like me logo Genes that share domains with ARMC4: view

No data available for Graphical View of Domain Structure and 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

Gene Ontology (GO) - Molecular Function for ARMC4 Gene

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

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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 4
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for ARMC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
GO:0005930 axoneme IDA 23849778
GO:0042995 cell projection IEA --
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

PathCards logo

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:0030030 cell projection organization IEA --
GO:0036158 outer dynein arm assembly IMP 23849778
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

CRISPR Products

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, 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 33
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 33
  • 94 (a)
OneToMany
ARMC4 32
  • 87.1 (n)
-- 33
  • 85 (a)
OneToMany
-- 33
  • 83 (a)
OneToMany
-- 33
  • 80 (a)
OneToMany
-- 33
  • 78 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ARMC4 33 32
  • 85.69 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARMC4 33
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Armc4 17 33 32
  • 82.53 (n)
rat
(Rattus norvegicus)
Mammalia Armc4 32
  • 81.69 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ARMC4 33
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARMC4 33 32
  • 70.7 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARMC4 33
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia armc4 32
  • 67.12 (n)
Str.11491 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.23564 32
zebrafish
(Danio rerio)
Actinopterygii armc4 33 32
  • 61.96 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008223 32
  • 55.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5155 33 32
  • 52.37 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 60 (a)
OneToOne
Cin.7233 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7233 32
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)
Aminode:
Evolutionary constrained regions (ECRs) for ARMC4: view image

Paralogs for ARMC4 Gene

Paralogs for ARMC4 Gene

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

  • ARMC4_HUMAN
  • B7Z7I1_HUMAN
  • E7ESX8_HUMAN
  • F5H5Q9_HUMAN
  • Q5T2S9_HUMAN
  • R4GN11_HUMAN

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

(7) MalaCards diseases for ARMC4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 23
  • cild23
primary ciliary dyskinesia
  • pcd
ciliary dyskinesia, primary, 1
  • pcd
kartagener syndrome
  • kartagener's syndrome
situs inversus
  • situs inversus viscerum
- 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 56
  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 56
  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 56
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56
  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 43 56

Products for ARMC4 Gene

Sources for ARMC4 Gene