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

Gene ID: 84071, updated on 5-Aug-2022

Summary

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
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Try the new Transcript table

Genomic context

See ARMC2 in Genome Data Viewer
Location:
6q21
Exon count:
28
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (108848422..109053040)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (110025833..110151892)
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 ZPR1 pseudogene 1 Neighboring gene ribosomal protein L37a pseudogene 3 Neighboring gene guanine nucleotide exchange factor subunit RIC1-like Neighboring gene ribosomal protein S12 pseudogene 13 Neighboring gene ATP synthase subunit f, mitochondrial-like Neighboring gene ARMC2 antisense RNA 1 Neighboring gene ATP synthase membrane subunit f pseudogene 2 Neighboring gene sestrin 1 Neighboring gene Sharpr-MPRA regulatory region 5156 Neighboring gene RNA, U6 small nuclear 653, pseudogene Neighboring gene centrosomal protein 57 like 1 Neighboring gene coiled-coil domain containing 162, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
involved_in sperm axoneme assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in sperm axoneme assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
armadillo repeat-containing protein 2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001286609.2NP_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/Swiss-Prot
    Q8NEN0
    Related
    ENSP00000357968.3, ENST00000368972.7
    Conserved Domains (1) summary
    sd00043
    Location:504540
    ARM; armadillo repeat [structural motif]
  2. NM_032131.6NP_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
    Q8NEN0, Q9H0K9
    Related
    ENSP00000376417.4, ENST00000392644.9
    Conserved Domains (2) summary
    cd00020
    Location:673790
    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:669705
    ARM; armadillo repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_047419396.1XP_047275352.1  armadillo repeat-containing protein 2 isoform X2

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

    See identical proteins and their annotated locations for XP_011534470.1

    Conserved Domains (2) summary
    cd00020
    Location:673790
    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:669705
    ARM; armadillo repeat [structural motif]
  3. XM_005267154.5XP_005267211.1  armadillo repeat-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005267211.1

    UniProtKB/Swiss-Prot
    Q8NEN0, Q9H0K9
    Conserved Domains (2) summary
    cd00020
    Location:673790
    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:669705
    ARM; armadillo repeat [structural motif]
  4. XM_005267155.3XP_005267212.1  armadillo repeat-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005267212.1

    UniProtKB/Swiss-Prot
    Q8NEN0, Q9H0K9
    Conserved Domains (2) summary
    cd00020
    Location:673790
    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:669705
    ARM; armadillo repeat [structural motif]
  5. XM_006715573.3XP_006715636.1  armadillo repeat-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_006715636.1

    UniProtKB/Swiss-Prot
    Q8NEN0, Q9H0K9
    Conserved Domains (2) summary
    cd00020
    Location:673790
    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:669705
    ARM; armadillo repeat [structural motif]
  6. XM_011536170.3XP_011534472.1  armadillo repeat-containing protein 2 isoform X5

    Conserved Domains (2) summary
    cd00020
    Location:673762
    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:669705
    ARM; armadillo repeat [structural motif]
  7. XM_011536167.2XP_011534469.1  armadillo repeat-containing protein 2 isoform X3

    Conserved Domains (2) summary
    cd00020
    Location:634751
    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:631666
    ARM; armadillo repeat [structural motif]
  8. XM_011536176.3XP_011534478.1  armadillo repeat-containing protein 2 isoform X9

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

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

    See identical proteins and their annotated locations for XP_011534468.1

    UniProtKB/Swiss-Prot
    Q8NEN0, Q9H0K9
    Conserved Domains (2) summary
    cd00020
    Location:673790
    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:669705
    ARM; armadillo repeat [structural motif]
  11. XM_011536172.3XP_011534474.1  armadillo repeat-containing protein 2 isoform X6

    See identical proteins and their annotated locations for XP_011534474.1

    UniProtKB/Swiss-Prot
    Q8NEN0
    Conserved Domains (1) summary
    sd00043
    Location:504540
    ARM; armadillo repeat [structural motif]
  12. XM_006715574.3XP_006715637.1  armadillo repeat-containing protein 2 isoform X6

    See identical proteins and their annotated locations for XP_006715637.1

    UniProtKB/Swiss-Prot
    Q8NEN0
    Conserved Domains (1) summary
    sd00043
    Location:504540
    ARM; armadillo repeat [structural motif]
  13. XM_047419397.1XP_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
    110025833..110151892
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)