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

Gene ID: 120379, updated on 3-Apr-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. Predicted to be part of R2TP complex and ribonucleoprotein complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 17.4), heart (RPKM 9.8) and 20 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (112052485..112074017, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (112061915..112084486, complement)
105.20220307 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)

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 
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_2023_10

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

  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

    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

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

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

  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

  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

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

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