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

Gene ID: 161931, updated on 5-Mar-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 and adenosine to inosine editing. Predicted to be active in cytoplasm and nucleolus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 19.3) See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (84191157..84197166)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (90257231..90263239)
105.20220307 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. 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
  2. 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
  3. 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
  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)

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

  • FLJ00337

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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_2023_10

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

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