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    PIH1D2 PIH1 domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 120379, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PIH1D2provided by HGNC
    Official Full Name
    PIH1 domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:25210
    See related
    Ensembl:ENSG00000150773 AllianceGenome:HGNC:25210
    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
    DNAAF15
    Summary
    Enables small GTPase binding activity. Predicted to be involved in box C/D snoRNP assembly and rRNA processing. Part of protein folding chaperone complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 17.4), heart (RPKM 9.8) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PIH1D2 in Genome Data Viewer
    Location:
    11q23.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (112052485..112074017, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (112061915..112084486, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111934747..111944741, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene dihydrolipoamide S-acetyltransferase Neighboring gene RNA, U6 small nuclear 893, pseudogene Neighboring gene peptidylprolyl isomerase H pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5531 Neighboring gene NKAP domain containing 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:111958561-111959094 Neighboring gene translocase of inner mitochondrial membrane 8 homolog B Neighboring gene succinate dehydrogenase complex subunit D

    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. The RPAP3-Cterminal domain identifies R2TP-like quaternary chaperones. Maurizy C, et al. Nat Commun, 2018 May 29. PMID 29844425, Free PMC Article
    2. The deubiquitylase USP33 discriminates between RALB functions in autophagy and innate immune response. Simicek M, et al. Nat Cell Biol, 2013 Oct. PMID 24056301
    3. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. Corominas R, et al. Nat Commun, 2014 Apr 11. PMID 24722188, Free PMC Article
    4. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. Wang AG, et al. Biochem Biophys Res Commun, 2006 Jul 7. PMID 16712791
    5. Next-generation sequencing to generate interactome datasets. Yu H, et al. Nat Methods, 2011 Jun. PMID 21516116, Free PMC Article

    See all (14) 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)

    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 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in box C/D snoRNP assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein stabilization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in rRNA processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of R2TP complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of protein folding chaperone complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of ribonucleoprotein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    PIH1 domain-containing protein 2
    Names
    dynein axonemal assembly factor 15

    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_001082619.2 → NP_001076088.1  PIH1 domain-containing protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001076088.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 3'-terminal exon, compared to variant 1, which results in a protein (isoform 2) with a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AP000907, CA312666, CB159963
      Consensus CDS
      CCDS44730.1
      UniProtKB/Swiss-Prot
      Q8WWB5
      Related
      ENSP00000388209.1, ENST00000431456.6
      Conserved Domains (1) summary
      cl00175
      Location:25 → 271
      alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.

    2. NM_138789.4 → NP_620144.1  PIH1 domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_620144.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AI339257, BC019238, CB159963
      Consensus CDS
      CCDS8355.1
      UniProtKB/Swiss-Prot
      B4DU48, E9PD82, Q8WWB5
      Related
      ENSP00000280350.4, ENST00000280350.10
      Conserved Domains (1) summary
      cl00175
      Location:25 → 313
      alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      112052485..112074017 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017205.3 → XP_016872694.1  PIH1 domain-containing protein 2 isoform X5

      UniProtKB/TrEMBL
      H0YCC0
      Conserved Domains (1) summary
      cl00175
      Location:25 → 271
      alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.

    2. XM_047426368.1 → XP_047282324.1  PIH1 domain-containing protein 2 isoform X5

      UniProtKB/TrEMBL
      H0YCC0

    3. XM_017017204.3 → XP_016872693.1  PIH1 domain-containing protein 2 isoform X6

      UniProtKB/TrEMBL
      H0YCC0

    4. XM_017017203.3 → XP_016872692.1  PIH1 domain-containing protein 2 isoform X3

      UniProtKB/TrEMBL
      H0YCC0
      Conserved Domains (1) summary
      cl00175
      Location:25 → 276
      alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.

    5. XM_024448350.2 → XP_024304118.1  PIH1 domain-containing protein 2 isoform X4

      Related
      ENSP00000434275.1, ENST00000528775.6
      Conserved Domains (1) summary
      cl00175
      Location:25 → 271
      alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.

    6. XM_017017201.3 → XP_016872690.1  PIH1 domain-containing protein 2 isoform X1

    7. XM_047426366.1 → XP_047282322.1  PIH1 domain-containing protein 2 isoform X1

    8. XM_024448349.2 → XP_024304117.1  PIH1 domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      B4DU48, E9PD82, Q8WWB5
      Related
      ENSP00000431841.1, ENST00000532211.5
      Conserved Domains (1) summary
      cl00175
      Location:25 → 313
      alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.

    9. XM_047426369.1 → XP_047282325.1  PIH1 domain-containing protein 2 isoform X7

      UniProtKB/TrEMBL
      H0YCC0
      Related
      ENSP00000431147.1, ENST00000530641.5

    RNA

    1. XR_007062450.1 RNA Sequence

    2. XR_007062449.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      112061915..112084486 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367669.1 → XP_054223644.1  PIH1 domain-containing protein 2 isoform X5

      UniProtKB/TrEMBL
      H0YCC0

    2. XM_054367670.1 → XP_054223645.1  PIH1 domain-containing protein 2 isoform X5

      UniProtKB/TrEMBL
      H0YCC0

    3. XM_054367671.1 → XP_054223646.1  PIH1 domain-containing protein 2 isoform X6

      UniProtKB/TrEMBL
      H0YCC0

    4. XM_054367666.1 → XP_054223641.1  PIH1 domain-containing protein 2 isoform X8

    5. XM_054367667.1 → XP_054223642.1  PIH1 domain-containing protein 2 isoform X3

      UniProtKB/TrEMBL
      H0YCC0

    6. XM_054367668.1 → XP_054223643.1  PIH1 domain-containing protein 2 isoform X4

    7. XM_054367663.1 → XP_054223638.1  PIH1 domain-containing protein 2 isoform X1

    8. XM_054367664.1 → XP_054223639.1  PIH1 domain-containing protein 2 isoform X1

    9. XM_054367665.1 → XP_054223640.1  PIH1 domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      B4DU48, E9PD82, Q8WWB5

    10. XM_054367672.1 → XP_054223647.1  PIH1 domain-containing protein 2 isoform X7

      UniProtKB/TrEMBL
      H0YCC0

    RNA

    1. XR_008488341.1 RNA Sequence

    2. XR_008488339.1 RNA Sequence

    3. XR_008488340.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WWB5.1 GenPept UniProtKB/Swiss-Prot:Q8WWB5

    Gene LinkOut

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

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