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    ARMC2 armadillo repeat containing 2 [ Homo sapiens (human) ]

    Gene ID: 84071, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ARMC2provided by HGNC
    Official Full Name
    armadillo repeat containing 2provided by HGNC
    Primary source
    HGNC:HGNC:23045
    See related
    Ensembl:ENSG00000118690 MIM:618424; AllianceGenome:HGNC:23045
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPGF38; bA787I22.1
    Summary
    Involved in sperm axoneme assembly. Implicated in spermatogenic failure 38. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 4.1), lung (RPKM 0.7) and 22 other tissues See more
    Orthologs
    mouse all
    NEW
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    Genomic context

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    See ARMC2 in Genome Data Viewer
    Location:
    6q21
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (108848422..109053040)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (110025813..110236991)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (109169625..109295679)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:109126969-109128168 Neighboring gene ZPR1 pseudogene 1 Neighboring gene ribosomal protein L37a pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17455 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24917 Neighboring gene guanine nucleotide exchange factor subunit RIC1-like Neighboring gene ribosomal protein S12 pseudogene 13 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:109218189-109219388 Neighboring gene ATP synthase subunit f, mitochondrial-like Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:109241738-109242648 Neighboring gene ARMC2 antisense RNA 1 Neighboring gene ATP synthase membrane subunit f pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:109266564-109267120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:109272427-109272928 Neighboring gene MPRA-validated peak6016 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24919 Neighboring gene sestrin 1 Neighboring gene Sharpr-MPRA regulatory region 5156 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:109367051-109367618 Neighboring gene RNA, U6 small nuclear 653, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24920 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24921 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:109422661-109423052 Neighboring gene centrosomal protein 57 like 1 Neighboring gene coiled-coil domain containing 162, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Chlamydomonas ARMC2/PF27 is an obligate cargo adapter for intraflagellar transport of radial spokes. Lechtreck KF, et al. Elife, 2022 Jan 4. PMID 34982025, Free PMC Article
    2. A novel stop-gain mutation in ARMC2 is associated with multiple morphological abnormalities of the sperm flagella. Khan I, et al. Reprod Biomed Online, 2021 Nov. PMID 34493464
    3. Identification of novel homozygous asthenoteratospermia-causing ARMC2 mutations associated with multiple morphological abnormalities of the sperm flagella. Zhao S, et al. J Assist Reprod Genet, 2024 May. PMID 38492154,
    4. Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice. Coutton C, et al. Am J Hum Genet, 2019 Feb 7. PMID 30686508, Free PMC Article
    5. Promyelocytic leukemia protein interacts with the apoptosis-associated speck-like protein to limit inflammasome activation. Dowling JK, et al. J Biol Chem, 2014 Mar 7. PMID 24407287, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of novel homozygous asthenoteratospermia-causing ARMC2 mutations associated with multiple morphological abnormalities of the sperm flagella.
      Title: Identification of novel homozygous asthenoteratospermia-causing ARMC2 mutations associated with multiple morphological abnormalities of the sperm flagella.
    2. A novel stop-gain mutation in ARMC2 is associated with multiple morphological abnormalities of the sperm flagella.
      Title: A novel stop-gain mutation in ARMC2 is associated with multiple morphological abnormalities of the sperm flagella.
    3. bi-allelic mutations in ARMC2 cause male infertility in humans and mice by inducing a typical "multiple morphological abnormalities of the flagella" phenotype, indicating that this gene is necessary for sperm flagellum structure and assembly
      Title: Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Spermatogenic failure 38
    MedGen: C5193095 OMIM: 618433 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
    EBI GWAS Catalog
    Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
    EBI GWAS Catalog
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ18267, FLJ99854, DKFZp434P0714

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nucleus organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sperm axoneme assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sperm axoneme assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    armadillo repeat-containing protein 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001286609.2 → NP_001273538.1  armadillo repeat-containing protein 2 isoform b

      See identical proteins and their annotated locations for NP_001273538.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region, which results in translation initiation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AK294574, AL390208, AW195322, BC030603
      Consensus CDS
      CCDS69168.1
      UniProtKB/TrEMBL
      B3KT98
      Related
      ENSP00000357968.3, ENST00000368972.7
      Conserved Domains (1) summary
      sd00043
      Location:504 → 540
      ARM; armadillo repeat [structural motif]

    2. NM_032131.6 → NP_115507.4  armadillo repeat-containing protein 2 isoform a

      See identical proteins and their annotated locations for NP_115507.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AK292499, AL390208, AW195322, BC030603, DA196834
      Consensus CDS
      CCDS5069.2
      UniProtKB/Swiss-Prot
      A8K8Y4, B4DGF5, G5E993, Q5VVY8, Q8NEN0, Q9H0K9
      UniProtKB/TrEMBL
      B3KT98
      Related
      ENSP00000376417.4, ENST00000392644.9
      Conserved Domains (2) summary
      cd00020
      Location:673 → 790
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00043
      Location:669 → 705
      ARM; armadillo repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      108848422..109053040
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419396.1 → XP_047275352.1  armadillo repeat-containing protein 2 isoform X2

      UniProtKB/TrEMBL
      B3KT98

    2. XM_011536168.4 → XP_011534470.1  armadillo repeat-containing protein 2 isoform X4

      See identical proteins and their annotated locations for XP_011534470.1

      UniProtKB/TrEMBL
      B3KT98
      Conserved Domains (2) summary
      cd00020
      Location:673 → 790
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00043
      Location:669 → 705
      ARM; armadillo repeat [structural motif]

    3. XM_005267154.5 → XP_005267211.1  armadillo repeat-containing protein 2 isoform X1

      See identical proteins and their annotated locations for XP_005267211.1

      UniProtKB/Swiss-Prot
      A8K8Y4, B4DGF5, G5E993, Q5VVY8, Q8NEN0, Q9H0K9
      UniProtKB/TrEMBL
      B3KT98
      Conserved Domains (2) summary
      cd00020
      Location:673 → 790
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00043
      Location:669 → 705
      ARM; armadillo repeat [structural motif]

    4. XM_005267155.3 → XP_005267212.1  armadillo repeat-containing protein 2 isoform X1

      See identical proteins and their annotated locations for XP_005267212.1

      UniProtKB/Swiss-Prot
      A8K8Y4, B4DGF5, G5E993, Q5VVY8, Q8NEN0, Q9H0K9
      UniProtKB/TrEMBL
      B3KT98
      Conserved Domains (2) summary
      cd00020
      Location:673 → 790
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00043
      Location:669 → 705
      ARM; armadillo repeat [structural motif]

    5. XM_006715573.3 → XP_006715636.1  armadillo repeat-containing protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006715636.1

      UniProtKB/Swiss-Prot
      A8K8Y4, B4DGF5, G5E993, Q5VVY8, Q8NEN0, Q9H0K9
      UniProtKB/TrEMBL
      B3KT98
      Conserved Domains (2) summary
      cd00020
      Location:673 → 790
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00043
      Location:669 → 705
      ARM; armadillo repeat [structural motif]

    6. XM_011536170.3 → XP_011534472.1  armadillo repeat-containing protein 2 isoform X5

      UniProtKB/TrEMBL
      B3KT98
      Conserved Domains (2) summary
      cd00020
      Location:673 → 762
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00043
      Location:669 → 705
      ARM; armadillo repeat [structural motif]

    7. XM_011536167.2 → XP_011534469.1  armadillo repeat-containing protein 2 isoform X3

      UniProtKB/TrEMBL
      B3KT98
      Conserved Domains (2) summary
      cd00020
      Location:634 → 751
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00043
      Location:631 → 666
      ARM; armadillo repeat [structural motif]

    8. XM_011536176.3 → XP_011534478.1  armadillo repeat-containing protein 2 isoform X9

    9. XM_017011351.2 → XP_016866840.1  armadillo repeat-containing protein 2 isoform X8

    10. XM_011536166.2 → XP_011534468.1  armadillo repeat-containing protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011534468.1

      UniProtKB/Swiss-Prot
      A8K8Y4, B4DGF5, G5E993, Q5VVY8, Q8NEN0, Q9H0K9
      UniProtKB/TrEMBL
      B3KT98
      Conserved Domains (2) summary
      cd00020
      Location:673 → 790
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00043
      Location:669 → 705
      ARM; armadillo repeat [structural motif]

    11. XM_011536172.3 → XP_011534474.1  armadillo repeat-containing protein 2 isoform X6

      See identical proteins and their annotated locations for XP_011534474.1

      UniProtKB/TrEMBL
      B3KT98
      Conserved Domains (1) summary
      sd00043
      Location:504 → 540
      ARM; armadillo repeat [structural motif]

    12. XM_006715574.3 → XP_006715637.1  armadillo repeat-containing protein 2 isoform X6

      See identical proteins and their annotated locations for XP_006715637.1

      UniProtKB/TrEMBL
      B3KT98
      Conserved Domains (1) summary
      sd00043
      Location:504 → 540
      ARM; armadillo repeat [structural motif]

    13. XM_047419397.1 → XP_047275353.1  armadillo repeat-containing protein 2 isoform X7

    RNA

    1. XR_007059340.1 RNA Sequence

    2. XR_007059341.1 RNA Sequence

    3. XR_942600.1 RNA Sequence

    4. XR_942601.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      110025813..110236991
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356518.1 → XP_054212493.1  armadillo repeat-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A8K8Y4, B4DGF5, G5E993, Q5VVY8, Q8NEN0, Q9H0K9
      UniProtKB/TrEMBL
      B3KT98

    2. XM_054356519.1 → XP_054212494.1  armadillo repeat-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A8K8Y4, B4DGF5, G5E993, Q5VVY8, Q8NEN0, Q9H0K9
      UniProtKB/TrEMBL
      B3KT98

    3. XM_054356521.1 → XP_054212496.1  armadillo repeat-containing protein 2 isoform X2

      UniProtKB/TrEMBL
      B3KT98

    4. XM_054356523.1 → XP_054212498.1  armadillo repeat-containing protein 2 isoform X4

      UniProtKB/TrEMBL
      B3KT98

    5. XM_054356517.1 → XP_054212492.1  armadillo repeat-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A8K8Y4, B4DGF5, G5E993, Q5VVY8, Q8NEN0, Q9H0K9
      UniProtKB/TrEMBL
      B3KT98

    6. XM_054356524.1 → XP_054212499.1  armadillo repeat-containing protein 2 isoform X5

      UniProtKB/TrEMBL
      B3KT98

    7. XM_054356522.1 → XP_054212497.1  armadillo repeat-containing protein 2 isoform X3

      UniProtKB/TrEMBL
      B3KT98

    8. XM_054356529.1 → XP_054212504.1  armadillo repeat-containing protein 2 isoform X9

    9. XM_054356528.1 → XP_054212503.1  armadillo repeat-containing protein 2 isoform X8

    10. XM_054356520.1 → XP_054212495.1  armadillo repeat-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A8K8Y4, B4DGF5, G5E993, Q5VVY8, Q8NEN0, Q9H0K9
      UniProtKB/TrEMBL
      B3KT98

    11. XM_054356525.1 → XP_054212500.1  armadillo repeat-containing protein 2 isoform X6

      UniProtKB/TrEMBL
      B3KT98

    12. XM_054356526.1 → XP_054212501.1  armadillo repeat-containing protein 2 isoform X6

      UniProtKB/TrEMBL
      B3KT98

    13. XM_054356527.1 → XP_054212502.1  armadillo repeat-containing protein 2 isoform X7

    RNA

    1. XR_008487440.1 RNA Sequence

    2. XR_008487441.1 RNA Sequence

    3. XR_008487443.1 RNA Sequence

    4. XR_008487442.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NEN0.4 GenPept UniProtKB/Swiss-Prot:Q8NEN0

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