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    ARMC12 armadillo repeat containing 12 [ Homo sapiens (human) ]

    Gene ID: 221481, updated on 7-Apr-2024

    Summary

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    Official Symbol
    ARMC12provided by HGNC
    Official Full Name
    armadillo repeat containing 12provided by HGNC
    Primary source
    HGNC:HGNC:21099
    See related
    Ensembl:ENSG00000157343 MIM:620377; AllianceGenome:HGNC:21099
    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
    SPGF90; C6orf81
    Summary
    Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis (RPKM 10.0), brain (RPKM 0.6) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    6p21.31
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (35731524..35749079)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (35551853..35569445)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (35704809..35716856)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene FKBP prolyl isomerase 5 Neighboring gene small nucleolar RNA SNORA40 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:35630473-35630974 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:35630975-35631474 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:35639883-35640082 Neighboring gene microRNA 5690 Neighboring gene MPRA-validated peak5774 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24410 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24409 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17096 Neighboring gene MPRA-validated peak5775 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35685276-35685841 Neighboring gene Sharpr-MPRA regulatory region 8621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24411 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:35693619-35693795 Neighboring gene Sharpr-MPRA regulatory region 11861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24412 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17098 Neighboring gene Sharpr-MPRA regulatory region 7900 Neighboring gene uncharacterized LOC285847 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35705089-35705697 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35705698-35706306 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35706915-35707523 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35707524-35708131 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:35715250-35715449 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:35723005-35723594 Neighboring gene MPRA-validated peak5777 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24413 Neighboring gene MPRA-validated peak5778 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17100 Neighboring gene CMPK1 pseudogene 1 Neighboring gene colipase like 2

    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. Biallelic mutations in ARMC12 cause asthenozoospermia and multiple midpiece defects in humans and mice. Liu W, et al. J Med Genet, 2023 Feb. PMID 35534203
    2. ARMC12 regulates spatiotemporal mitochondrial dynamics during spermiogenesis and is required for male fertility. Shimada K, et al. Proc Natl Acad Sci U S A, 2021 Feb 9. PMID 33536340, Free PMC Article
    3. Armadillo repeat containing 12 promotes neuroblastoma progression through interaction with retinoblastoma binding protein 4. Li D, et al. Nat Commun, 2018 Jul 19. PMID 30026490, Free PMC Article
    4. Proteomic characterization of the human sperm nucleus. de Mateo S, et al. Proteomics, 2011 Jul. PMID 21630459
    5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. Olsen JV, et al. Cell, 2006 Nov 3. PMID 17081983

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biallelic mutations in ARMC12 cause asthenozoospermia and multiple midpiece defects in humans and mice.
      Title: Biallelic mutations in ARMC12 cause asthenozoospermia and multiple midpiece defects in humans and mice.
    2. ARMC12 regulates spatiotemporal mitochondrial dynamics during spermiogenesis and is required for male fertility.
      Title: ARMC12 regulates spatiotemporal mitochondrial dynamics during spermiogenesis and is required for male fertility.
    3. ARMC12 promotes neuroblastoma progression through interaction with RBBP4.
      Title: Armadillo repeat containing 12 promotes neuroblastoma progression through interaction with retinoblastoma binding protein 4.
    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 90
    MedGen: CN376944 OMIM: 620744 GeneReviews: Not available
    		not available

    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

    • FLJ25390

    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 flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of cell growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sperm mitochondrial sheath assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial outer membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    armadillo repeat-containing protein 12

    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.

    Genomic

    1. NG_052798.1 RefSeqGene

      Range
      8307..20354
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001286574.2 → NP_001273503.1  armadillo repeat-containing protein 12 isoform b

      See identical proteins and their annotated locations for NP_001273503.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in its 5' terminal exon, resulting in the loss of an in-frame segment in the 5' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AA625684, AL157823, DB070109
      Consensus CDS
      CCDS69093.1
      UniProtKB/Swiss-Prot
      Q5T9G4, Q8NEB2, Q96LL8
      Related
      ENSP00000362973.3, ENST00000373866.4
      Conserved Domains (1) summary
      pfam04826
      Location:66 → 308
      Arm_2; Armadillo-like

    2. NM_001286576.2 → NP_001273505.1  armadillo repeat-containing protein 12 isoform c

      See identical proteins and their annotated locations for NP_001273505.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in both its 5' and 3' terminal exons, resulting in the loss of in-frame segments in the 5' and 3' coding regions, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AA625684, AK058119, AL157823, DB070109
      Consensus CDS
      CCDS69094.1
      UniProtKB/Swiss-Prot
      Q5T9G4
      Related
      ENSP00000362976.3, ENST00000373869.7
      Conserved Domains (1) summary
      pfam04826
      Location:66 → 298
      Arm_2; Armadillo-like

    3. NM_145028.5 → NP_659465.2  armadillo repeat-containing protein 12 isoform a

      See identical proteins and their annotated locations for NP_659465.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AA625684, AL157823, BC033033, DB070109
      Consensus CDS
      CCDS4809.1
      UniProtKB/Swiss-Prot
      Q5T9G4
      Related
      ENSP00000288065.2, ENST00000288065.6
      Conserved Domains (1) summary
      pfam04826
      Location:93 → 335
      Arm_2; Armadillo-like

    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
      35731524..35749079
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418347.1 → XP_047274303.1  armadillo repeat-containing protein 12 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9G4, Q8NEB2, Q96LL8

    2. XM_017010435.3 → XP_016865924.1  armadillo repeat-containing protein 12 isoform X1

      UniProtKB/Swiss-Prot
      Q5T9G4
      Conserved Domains (1) summary
      pfam04826
      Location:93 → 335
      Arm_2; Armadillo-like

    3. XM_047418343.1 → XP_047274299.1  armadillo repeat-containing protein 12 isoform X1

    4. XM_047418344.1 → XP_047274300.1  armadillo repeat-containing protein 12 isoform X1

    5. XM_011514381.3 → XP_011512683.1  armadillo repeat-containing protein 12 isoform X3

      Conserved Domains (1) summary
      pfam04826
      Location:28 → 270
      Arm_2; Armadillo-like

    6. XM_047418345.1 → XP_047274301.1  armadillo repeat-containing protein 12 isoform X1

    7. XM_047418348.1 → XP_047274304.1  armadillo repeat-containing protein 12 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9G4, Q8NEB2, Q96LL8

    8. XM_047418346.1 → XP_047274302.1  armadillo repeat-containing protein 12 isoform X1

    9. XM_011514382.3 → XP_011512684.1  armadillo repeat-containing protein 12 isoform X4

      See identical proteins and their annotated locations for XP_011512684.1

      Conserved Domains (1) summary
      pfam04826
      Location:25 → 221
      Arm_2; Armadillo-like

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      35551853..35569445
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354593.1 → XP_054210568.1  armadillo repeat-containing protein 12 isoform X3

    2. XM_054354592.1 → XP_054210567.1  armadillo repeat-containing protein 12 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9G4, Q8NEB2, Q96LL8

    3. XM_054354591.1 → XP_054210566.1  armadillo repeat-containing protein 12 isoform X1

    4. XM_054354594.1 → XP_054210569.1  armadillo repeat-containing protein 12 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T9G4.1 GenPept UniProtKB/Swiss-Prot:Q5T9G4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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