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    ADAD2 adenosine deaminase domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 161931, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ADAD2provided by HGNC
    Official Full Name
    adenosine deaminase domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:30714
    See related
    Ensembl:ENSG00000140955 MIM:619532; AllianceGenome:HGNC:30714
    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
    TENRL
    Summary
    Predicted to enable double-stranded RNA adenosine deaminase activity; double-stranded RNA binding activity; and tRNA-specific adenosine deaminase activity. Predicted to be involved in RNA processing; adenosine to inosine editing; and spermatid development. Predicted to be located in nucleus. Predicted to be active in cytoplasm and nucleolus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 19.3) See more
    Orthologs
    mouse all
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    Genomic context

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    See ADAD2 in Genome Data Viewer
    Location:
    16q24.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (84191157..84197166)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (90257231..90263239)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (84224763..84230772)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84169151-84169748 Neighboring gene hydroxysteroid dehydrogenase like 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84170943-84171538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7779 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7780 Neighboring gene dynein axonemal assembly factor 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:84220503-84221003 Neighboring gene Sharpr-MPRA regulatory region 3417 Neighboring gene TATA-box binding protein associated factor, RNA polymerase I subunit C Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:84227912-84229111 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84229267-84229889 Neighboring gene splicing factor proline/glutamine-rich Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84247937-84248438 Neighboring gene potassium voltage-gated channel modifier subfamily G member 4 Neighboring gene RNA, 5S ribosomal pseudogene 433

    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 RNA-binding protein ADAD2 cause spermiogenic failure and non-obstructive azoospermia in humans. Shi B, et al. Hum Reprod Open, 2023. PMID 37325547, Free PMC Article
    2. ADAD2 regulates heterochromatin in meiotic and post-meiotic male germ cells via translation of MDC1. Chukrallah LG, et al. J Cell Sci, 2022 Feb 15. PMID 35191498, Free PMC Article
    3. Two RNA binding proteins, ADAD2 and RNF17, interact to form a heterogeneous population of novel meiotic germ cell granules with developmentally dependent organelle association. Chukrallah LG, et al. PLoS Genet, 2023 Jul. PMID 37428816, Free PMC Article
    4. ADAD1 and ADAD2, testis-specific adenosine deaminase domain-containing proteins, are required for male fertility. Snyder E, et al. Sci Rep, 2020 Jul 14. PMID 32665638, Free PMC Article
    5. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. Fox CS, et al. PLoS Genet, 2012. PMID 22589738, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    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

    • FLJ00337

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables adenosine deaminase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables double-stranded RNA adenosine deaminase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables double-stranded RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables tRNA-specific adenosine deaminase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in RNA processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in adenosine to inosine editing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatid development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    adenosine deaminase domain-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_001145400.2 → NP_001138872.1  adenosine deaminase domain-containing protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001138872.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon and uses an alternate splice site in the coding region compared to variant 1. The resulting isoform (2) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AF447586, BU731201, DB036324
      Consensus CDS
      CCDS45536.1
      UniProtKB/Swiss-Prot
      B2RCL6, Q8NA94, Q8NCV1
      Related
      ENSP00000325153.6, ENST00000315906.10
      Conserved Domains (2) summary
      pfam00035
      Location:116 → 179
      dsrm; Double-stranded RNA binding motif
      pfam02137
      Location:261 → 576
      A_deamin; Adenosine-deaminase (editase) domain

    2. NM_139174.4 → NP_631913.3  adenosine deaminase domain-containing protein 2 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF447586, AK093046, BU731201, DB036324
      Consensus CDS
      CCDS10944.1
      UniProtKB/Swiss-Prot
      Q8NCV1
      Related
      ENSP00000268624.3, ENST00000268624.7
      Conserved Domains (2) summary
      pfam02137
      Location:343 → 658
      A_deamin; Adenosine-deaminase (editase) domain
      cl00054
      Location:112 → 251
      DSRM_SF; double-stranded RNA binding motif (DSRM) superfamily

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      84191157..84197166
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      90257231..90263239
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NCV1.1 GenPept UniProtKB/Swiss-Prot:Q8NCV1

    Gene LinkOut

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

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