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

Gene ID: 84071, updated on 3-Apr-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, Apr 2022]
Expression
Broad expression in testis (RPKM 4.1), lung (RPKM 0.7) and 22 other tissues See more
Orthologs
mouse all
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (108848422..109053040)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (110025813..110236991)
105.20220307 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 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. 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
  4. 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
  5. Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. Soler Artigas M, et al. Nat Genet, 2011 Sep 25. PMID 21946350, Free PMC Article

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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
Compare labs

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)

Genotypes

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 cilium organization IBA
Inferred from Biological aspect of Ancestor
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_2023_10

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

  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

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

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

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

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

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

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

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

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

  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

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

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

  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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