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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

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