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    ANGEL2 angel homolog 2 [ Homo sapiens (human) ]

    Gene ID: 90806, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ANGEL2provided by HGNC
    Official Full Name
    angel homolog 2provided by HGNC
    Primary source
    HGNC:HGNC:30534
    See related
    Ensembl:ENSG00000174606 MIM:619001; AllianceGenome:HGNC:30534
    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
    Ccr4d; KIAA0759L
    Summary
    Enables mRNA 3'-UTR binding activity. Involved in 3'-UTR-mediated mRNA stabilization and negative regulation of mitotic cell cycle. Located in Cajal body and cytoplasm. Is active in mitochondrial matrix. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 5.6), lymph node (RPKM 5.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANGEL2 in Genome Data Viewer
    Location:
    1q32.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (212992182..213015867, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (212235291..212258971, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (213165524..213189209, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904507 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213090085-213090684 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:213093647-213094446 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213101650-213102592 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213102593-213103534 Neighboring gene MPRA-validated peak689 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2521 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2522 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213131647-213132304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213132964-213133621 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:213133682-213134182 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213141040-213141685 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2524 Neighboring gene Sharpr-MPRA regulatory region 1741 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2526 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213188046-213188634 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213188635-213189222 Neighboring gene CRISPRi-validated cis-regulatory element chr1.11646 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1809 Neighboring gene vasohibin 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:213231113-213231272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2528 Neighboring gene ribosomal protein S6 kinase C1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:213325631-213326306 Neighboring gene NANOG hESC enhancer GRCh37_chr1:213349583-213350260 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:213393895-213394085 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:213404976-213405900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2529 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:213454938-213455452 Neighboring gene VISTA enhancer hs1324 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213545088-213545614 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213545615-213546139 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:213572574-213573110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:213573111-213573646 Neighboring gene MPRA-validated peak692 silencer Neighboring gene VISTA enhancer hs204 Neighboring gene ribosomal protein L31 pseudogene 13 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:213680906-213681904 Neighboring gene NANOG hESC enhancer GRCh37_chr1:213685550-213686112 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_3904 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:213843687-213844216 Neighboring gene PROX1 antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 538

    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. ANGEL2 is a member of the CCR4 family of deadenylases with 2',3'-cyclic phosphatase activity. Pinto PH, et al. Science, 2020 Jul 31. PMID 32732418
    2. Genomic structure and evolutionary context of the human feline leukemia virus subgroup C receptor (hFLVCR) gene: evidence for block duplications and de novo gene formation within duplicons of the hFLVCR locus. Lipovich L, et al. Gene, 2002 Mar 20. PMID 11943475
    3. An unconventional human Ccr4-Caf1 deadenylase complex in nuclear cajal bodies. Wagner E, et al. Mol Cell Biol, 2007 Mar. PMID 17178830, Free PMC Article
    4. RNA processing and modification protein, carbon catabolite repression 4 (Ccr4), arrests the cell cycle through p21-dependent and p53-independent pathway. Yi X, et al. J Biol Chem, 2012 Jun 15. PMID 22547059, Free PMC Article
    5. ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processing. Clemente P, et al. Nat Commun, 2022 Sep 30. PMID 36180430, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ANGEL2 is a member of the CCR4 family of deadenylases with 2',3'-cyclic phosphatase activity.
      Title: ANGEL2 is a member of the CCR4 family of deadenylases with 2',3'-cyclic phosphatase activity.
    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

    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

    • FLJ12793

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables catalytic activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables mRNA 3'-UTR binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables mRNA 3'-UTR binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in 3'-UTR-mediated mRNA stabilization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in 3'-UTR-mediated mRNA stabilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial mRNA 3'-end processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Cajal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    protein angel homolog 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_001300753.2 → NP_001287682.1  protein angel homolog 2 isoform b

      See identical proteins and their annotated locations for NP_001287682.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a. Variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      AF510741, AI658922, AK022855, AK294479, BX103687, DC395916
      UniProtKB/TrEMBL
      B7Z297
      Conserved Domains (1) summary
      cl00490
      Location:43 → 416
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    2. NM_001300755.2 → NP_001287684.1  protein angel homolog 2 isoform b

      See identical proteins and their annotated locations for NP_001287684.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a. Variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      AF510741, AI658922, AK022855, AK299208, BX103687, DA718585
      UniProtKB/TrEMBL
      B7Z297
      Conserved Domains (1) summary
      cl00490
      Location:43 → 416
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    3. NM_001300757.2 → NP_001287686.1  protein angel homolog 2 isoform c

      See identical proteins and their annotated locations for NP_001287686.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus than isoform a. Variants 4 and 5 encode the same isoform (c).
      Source sequence(s)
      AF510741, AI658922, AK022855, BX103687, DC395916
      Consensus CDS
      CCDS73027.1
      UniProtKB/TrEMBL
      B7Z5N3
      Related
      ENSP00000438141.2, ENST00000535388.2
      Conserved Domains (1) summary
      cl00490
      Location:1 → 373
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    4. NM_001300758.2 → NP_001287687.1  protein angel homolog 2 isoform c

      See identical proteins and their annotated locations for NP_001287687.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus than isoform a. Variants 4 and 5 encode the same isoform (c).
      Source sequence(s)
      AI658922, AK022855, AL079275, BC047469, BX103687, DC395916
      Consensus CDS
      CCDS73027.1
      UniProtKB/TrEMBL
      B7Z5N3
      Related
      ENSP00000353696.2, ENST00000360506.6
      Conserved Domains (1) summary
      cl00490
      Location:1 → 373
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    5. NM_144567.5 → NP_653168.2  protein angel homolog 2 isoform a

      See identical proteins and their annotated locations for NP_653168.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AF510741, AI658922, AK022855, AL079275, BC016966, BC047469, BX103687, DC395916
      Consensus CDS
      CCDS1512.1
      UniProtKB/Swiss-Prot
      B7Z2U4, D3DTA3, Q5VTE6, Q86X13, Q8NHH3
      Related
      ENSP00000355929.3, ENST00000366962.8
      Conserved Domains (1) summary
      cl00490
      Location:169 → 542
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    RNA

    1. NR_125333.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF510741, AI658922, AK022855, AK299365, BX103687, DC395916

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      212992182..213015867 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017002774.2 → XP_016858263.1  protein angel homolog 2 isoform X1

      Conserved Domains (1) summary
      cl00490
      Location:147 → 520
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    2. XM_005273346.3 → XP_005273403.1  protein angel homolog 2 isoform X1

      See identical proteins and their annotated locations for XP_005273403.1

      Conserved Domains (1) summary
      cl00490
      Location:147 → 520
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    3. XM_005273347.4 → XP_005273404.1  protein angel homolog 2 isoform X2

      See identical proteins and their annotated locations for XP_005273404.1

      UniProtKB/TrEMBL
      B7Z297
      Conserved Domains (1) summary
      cl00490
      Location:90 → 463
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    4. XM_005273344.2 → XP_005273401.1  protein angel homolog 2 isoform X1

      See identical proteins and their annotated locations for XP_005273401.1

      Conserved Domains (1) summary
      cl00490
      Location:147 → 520
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    5. XM_005273345.2 → XP_005273402.1  protein angel homolog 2 isoform X1

      See identical proteins and their annotated locations for XP_005273402.1

      Conserved Domains (1) summary
      cl00490
      Location:147 → 520
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    6. XM_047433784.1 → XP_047289740.1  protein angel homolog 2 isoform X3

    7. XM_047433785.1 → XP_047289741.1  protein angel homolog 2 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      212235291..212258971 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339520.1 → XP_054195495.1  protein angel homolog 2 isoform X1

    2. XM_054339519.1 → XP_054195494.1  protein angel homolog 2 isoform X1

    3. XM_054339522.1 → XP_054195497.1  protein angel homolog 2 isoform X2

    4. XM_054339525.1 → XP_054195500.1  protein angel homolog 2 isoform X1

    5. XM_054339521.1 → XP_054195496.1  protein angel homolog 2 isoform X1

    6. XM_054339523.1 → XP_054195498.1  protein angel homolog 2 isoform X3

    7. XM_054339524.1 → XP_054195499.1  protein angel homolog 2 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VTE6.1 GenPept UniProtKB/Swiss-Prot:Q5VTE6

    Gene LinkOut

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