Aliases for ARMC2 Gene

Aliases for ARMC2 Gene

  • Armadillo Repeat Containing 2 2 3 5
  • Armadillo Repeat-Containing Protein 2 3 4
  • BA787I22.1 2 3
  • DKFZp434P0714 2
  • SPGF38 3
  • ARMC2 5

External Ids for ARMC2 Gene

Previous GeneCards Identifiers for ARMC2 Gene

  • GC06P109215
  • GC06P109276
  • GC06P106736
  • GC06P109169

Summaries for ARMC2 Gene

GeneCards Summary for ARMC2 Gene

ARMC2 (Armadillo Repeat Containing 2) is a Protein Coding gene. Diseases associated with ARMC2 include Spermatogenic Failure 38 and Male Infertility With Teratozoospermia Due To Single Gene Mutation. Gene Ontology (GO) annotations related to this gene include binding.

UniProtKB/Swiss-Prot Summary for ARMC2 Gene

  • Required for sperm flagellum axoneme organization and function (By similarity). Involved in axonemal central pair complex assembly and/or stability (By similarity).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARMC2 Gene

Genomics for ARMC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARMC2 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
GH06J108847 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 615.4 +1.1 1105 3.8 GATAD2A HNRNPL PRDM10 ZNF629 TFE3 RFX1 NFKBIZ ZNF692 ZIC2 RBFOX2 ARMC2 ENSG00000271730 RPS12P13 lnc-SESN1-2 SESN1
GH06J108895 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 26.6 +48.1 48060 2.7 PRDM10 ZNF629 REST RFX1 ZNF692 PATZ1 ZNF341 FOXJ2 KLF9 KLF7 ARMC2 RNU6-653P ARMC2-AS1 OSTM1-AS1 FOXO3 CD164 L13713-205 ATP5MFP2 SESN1
GH06J108871 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 26.6 +25.3 25296 4.1 TEAD4 JUND ZIC2 IKZF2 RCOR1 TRIM22 ARID3A DPF2 RELB CEBPB ARMC2 RNU6-653P ARMC2-AS1 ZBTB24 SESN1 piR-50444-404 lnc-FOXO3-5 L13713-205
GH06J108903 Enhancer 1 ENCODE dbSUPER 24.8 +56.9 56928 3.2 GATAD2A LEF1 SOX13 TCF12 IKZF2 RCOR1 TRIM22 PKNOX1 ARID3A TCF7 ARMC2 RNU6-653P ATP5MFP2 L13713-205 SESN1
GH06J108884 Enhancer 1 FANTOM5 Ensembl dbSUPER 24.8 +35.6 35591 2 TEAD4 IKZF2 ARID3A RUNX3 JUNB IRF4 BATF STAT5A ATF2 NFATC1 ARMC2 ARMC2-AS1 L13713-205 piR-50444-404 SESN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARMC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARMC2

Top Transcription factor binding sites by QIAGEN in the ARMC2 gene promoter:
  • GATA-3
  • GR
  • GR-alpha
  • MZF-1
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • NRSF form 1
  • NRSF form 2
  • Pax-5

Genomic Locations for ARMC2 Gene

Genomic Locations for ARMC2 Gene
chr6:108,848,410-108,989,090
(GRCh38/hg38)
Size:
140,681 bases
Orientation:
Plus strand
chr6:109,169,619-109,295,352
(GRCh37/hg19)
Size:
125,734 bases
Orientation:
Plus strand

Genomic View for ARMC2 Gene

Genes around ARMC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARMC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARMC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARMC2 Gene

Proteins for ARMC2 Gene

  • Protein details for ARMC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEN0-ARMC2_HUMAN
    Recommended name:
    Armadillo repeat-containing protein 2
    Protein Accession:
    Q8NEN0
    Secondary Accessions:
    • A8K8Y4
    • B4DGF5
    • G5E993
    • Q5VVY8
    • Q9H0K9

    Protein attributes for ARMC2 Gene

    Size:
    867 amino acids
    Molecular mass:
    96867 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH30603.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAF85188.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ARMC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARMC2 Gene

Post-translational modifications for ARMC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ARMC2 Gene

Domains & Families for ARMC2 Gene

Gene Families for ARMC2 Gene

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

Protein Domains for ARMC2 Gene

Suggested Antigen Peptide Sequences for ARMC2 Gene

GenScript: Design optimal peptide antigens:
  • Armadillo repeat-containing protein 2 (ARMC2_HUMAN)
  • Armadillo repeat containing 2 (B0QZC2_HUMAN)
genes like me logo Genes that share domains with ARMC2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ARMC2 Gene

Function for ARMC2 Gene

Molecular function for ARMC2 Gene

UniProtKB/Swiss-Prot Function:
Required for sperm flagellum axoneme organization and function (By similarity). Involved in axonemal central pair complex assembly and/or stability (By similarity).

Phenotypes From GWAS Catalog for ARMC2 Gene

Gene Ontology (GO) - Molecular Function for ARMC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24407287
genes like me logo Genes that share ontologies with ARMC2: view
genes like me logo Genes that share phenotypes with ARMC2: view

Human Phenotype Ontology for ARMC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ARMC2 Gene

MGI Knock Outs for ARMC2:
  • Armc2 Armc2<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARMC2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ARMC2 Gene

Localization for ARMC2 Gene

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 ARMC2 gene
Compartment Confidence
nucleus 2
extracellular 1
cytoskeleton 1
cytosol 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ARMC2 Gene

Pathways & Interactions for ARMC2 Gene

PathCards logo

SuperPathways for ARMC2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ARMC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis IEA --
GO:0007288 sperm axoneme assembly IMP 30686508
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with ARMC2: view

No data available for Pathways by source and SIGNOR curated interactions for ARMC2 Gene

Drugs & Compounds for ARMC2 Gene

No Compound Related Data Available

Transcripts for ARMC2 Gene

mRNA/cDNA for ARMC2 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARMC2

Alternative Splicing Database (ASD) splice patterns (SP) for ARMC2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^
SP1: - - - - -
SP2: - - - - -
SP3: -
SP4: - - -
SP5: - - -
SP6: - - - - - - -
SP7: - - - - - -
SP8:

ExUns: 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for ARMC2 Gene

GeneLoc Exon Structure for
ARMC2

Expression for ARMC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARMC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ARMC2 Gene

This gene is overexpressed in Testis (x5.4).

Protein differential expression in normal tissues from HIPED for ARMC2 Gene

This gene is overexpressed in Plasma (46.9) and Serum (20.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ARMC2 Gene



Protein tissue co-expression partners for ARMC2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARMC2

SOURCE GeneReport for Unigene cluster for ARMC2 Gene:

Hs.645481

mRNA Expression by UniProt/SwissProt for ARMC2 Gene:

Q8NEN0-ARMC2_HUMAN
Tissue specificity: Expressed at higher level in testis.

Evidence on tissue expression from TISSUES for ARMC2 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with ARMC2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ARMC2 Gene

Orthologs for ARMC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARMC2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ARMC2 30 31
  • 99.46 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ARMC2 30 31
  • 88.47 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ARMC2 30 31
  • 87.17 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Armc2 30 17 31
  • 77.4 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Armc2 30
  • 76.92 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 76 (a)
OneToMany
-- 31
  • 76 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia ARMC2 31
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ARMC2 30 31
  • 65.93 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ARMC2 31
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia armc2 30
  • 60.55 (n)
Zebrafish
(Danio rerio)
Actinopterygii armc2 30 31
  • 53.07 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG32668 31
  • 24 (a)
OneToOne
Species where no ortholog for ARMC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (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 ARMC2 Gene

ENSEMBL:
Gene Tree for ARMC2 (if available)
TreeFam:
Gene Tree for ARMC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARMC2: view image

Paralogs for ARMC2 Gene

No data available for Paralogs for ARMC2 Gene

Variants for ARMC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARMC2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs1562332833 Pathogenic: Male infertility with teratozoospermia due to single gene mutation; SPERMATOGENIC FAILURE 38 108,868,953(+) C/T NONSENSE,FIVE_PRIME_UTR_VARIANT
rs1562372417 Pathogenic: Sperm tail anomaly; Male infertility with teratozoospermia due to single gene mutation; SPERMATOGENIC FAILURE 38 108,904,406(+) G/A SPLICE_DONOR_VARIANT
rs1562381747 Pathogenic: Male infertility with teratozoospermia due to single gene mutation; SPERMATOGENIC FAILURE 38 108,912,488(+) TAAAAC/T FRAMESHIFT_VARIANT
rs1562435988 Pathogenic: Male infertility with teratozoospermia due to single gene mutation; SPERMATOGENIC FAILURE 38 108,964,306(+) T/A MISSENSE_VARIANT
rs1562436860 Pathogenic: Male infertility with teratozoospermia due to single gene mutation; SPERMATOGENIC FAILURE 38 108,965,045(+) CTT/C FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for ARMC2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ARMC2 Gene

Variant ID Type Subtype PubMed ID
esv2656715 CNV deletion 23128226
esv2673947 CNV deletion 23128226
esv3610328 CNV loss 21293372
esv3610329 CNV loss 21293372
esv3610330 CNV loss 21293372
esv3610331 CNV loss 21293372
esv3610332 CNV loss 21293372
nsv604483 CNV gain 21841781
nsv830768 CNV gain 17160897

Variation tolerance for ARMC2 Gene

Residual Variation Intolerance Score: 56.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.96; 49.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARMC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARMC2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARMC2 Gene

Disorders for ARMC2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ARMC2 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ARMC2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ARMC2_HUMAN
  • Spermatogenic failure 38 (SPGF38) [MIM:618433]: An autosomal recessive infertility disorder characterized by asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic abnormalities including short, absent, coiled, bent, or irregular-caliber flagella. {ECO:0000269 PubMed:30686508}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ARMC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ARMC2: view

No data available for Genatlas for ARMC2 Gene

Publications for ARMC2 Gene

  1. Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice. (PMID: 30686508) Coutton C … Ray PF (American journal of human genetics 2019) 3 4
  2. Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. (PMID: 21946350) Soler Artigas M … Tobin MD (Nature genetics 2011) 3 41
  3. Inherited genetic variant predisposes to aggressive but not indolent prostate cancer. (PMID: 20080650) Xu J … Isaacs WB (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 41
  4. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira AR … Marazita ML (Genetics in medicine : official journal of the American College of Medical Genetics 2008) 3 41
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for ARMC2 Gene

Sources for ARMC2 Gene