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    ARRDC2 arrestin domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 27106, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ARRDC2provided by HGNC
    Official Full Name
    arrestin domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:25225
    See related
    Ensembl:ENSG00000105643 AllianceGenome:HGNC:25225
    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
    PP2703; CLONE24945
    Summary
    Predicted to be involved in protein transport. Located in cytoplasmic vesicle and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in bone marrow (RPKM 25.3), fat (RPKM 16.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19p13.11
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (18001124..18014102)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (18135202..18148181)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18111933..18124911)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14292 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10363 Neighboring gene coiled-coil domain containing 124 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10364 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18062016-18062634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18062635-18063252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18063253-18063870 Neighboring gene MPRA-validated peak3398 silencer Neighboring gene potassium calcium-activated channel subfamily N member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18073163-18073735 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18076903-18077620 Neighboring gene RNA, 5S ribosomal pseudogene 468 Neighboring gene MPRA-validated peak3399 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18095189-18095870 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18098837-18099338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18099339-18099838 Neighboring gene Sharpr-MPRA regulatory region 11250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18107595-18108096 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14293 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18124072-18124572 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14294 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18132997-18133546 Neighboring gene CS pseudogene 3 Neighboring gene NAD(P)HX epimerase pseudogene

    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. Multiple interactions between the ESCRT machinery and arrestin-related proteins: implications for PPXY-dependent budding. Rauch S, et al. J Virol, 2011 Apr. PMID 21191027, Free PMC Article
    2. Mammalian α arrestins link activated seven transmembrane receptors to Nedd4 family e3 ubiquitin ligases and interact with β arrestins. Shea FF, et al. PLoS One, 2012. PMID 23236378, Free PMC Article
    3. Large-scale cDNA transfection screening for genes related to cancer development and progression. Wan D, et al. Proc Natl Acad Sci U S A, 2004 Nov 2. PMID 15498874, Free PMC Article
    4. Large-scale concatenation cDNA sequencing. Yu W, et al. Genome Res, 1997 Apr. PMID 9110174, Free PMC Article
    5. A "double adaptor" method for improved shotgun library construction. Andersson B, et al. Anal Biochem, 1996 Apr 5. PMID 8619474

    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

    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

    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 protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    arrestin 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_001025604.3 → NP_001020775.1  arrestin domain-containing protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001020775.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5'-terminal exon and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC020904, AI420040, AK127940, BG756314
      Consensus CDS
      CCDS32956.1
      UniProtKB/Swiss-Prot
      Q8TBH0
      Related
      ENSP00000368977.1, ENST00000379656.7
      Conserved Domains (2) summary
      smart01017
      Location:176 → 302
      Arrestin_C; Arrestin (or S-antigen), C-terminal domain
      pfam00339
      Location:17 → 153
      Arrestin_N; Arrestin (or S-antigen), N-terminal domain

    2. NM_001286826.2 → NP_001273755.1  arrestin domain-containing protein 2 isoform 3

      See identical proteins and their annotated locations for NP_001273755.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
      Source sequence(s)
      AF193051
      UniProtKB/Swiss-Prot
      Q8TBH0
      Conserved Domains (2) summary
      smart01017
      Location:181 → 307
      Arrestin_C; Arrestin (or S-antigen), C-terminal domain
      pfam00339
      Location:9 → 158
      Arrestin_N; Arrestin (or S-antigen), N-terminal domain

    3. NM_015683.2 → NP_056498.1  arrestin domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_056498.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AF193051
      Consensus CDS
      CCDS12370.1
      UniProtKB/Swiss-Prot
      B2RBG9, O95895, Q6ZRV9, Q8TBH0, Q8WYG6
      Related
      ENSP00000222250.3, ENST00000222250.5
      Conserved Domains (2) summary
      smart01017
      Location:181 → 307
      Arrestin_C; Arrestin (or S-antigen), C-terminal domain
      pfam00339
      Location:9 → 158
      Arrestin_N; Arrestin (or S-antigen), N-terminal domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      18001124..18014102
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      18135202..18148181
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TBH0.2 GenPept UniProtKB/Swiss-Prot:Q8TBH0

    Gene LinkOut

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

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