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

Gene ID: 120379, updated on 11-Sep-2019

Summary

Official Symbol
PIH1D2provided by HGNC
Official Full Name
PIH1 domain containing 2provided by HGNC
Primary source
HGNC:HGNC:25210
See related
Ensembl:ENSG00000150773
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
Expression
Broad expression in testis (RPKM 17.4), heart (RPKM 9.8) and 20 other tissues See more
Orthologs

Genomic context

See PIH1D2 in Genome Data Viewer
Location:
11q23.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (112052161..112074171, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111934734..111944895, 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 NKAP domain containing 1 Neighboring gene translocase of inner mitochondrial membrane 8 homolog B Neighboring gene succinate dehydrogenase complex subunit D

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Ral GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
box C/D snoRNP assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
rRNA processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
R2TP complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
PIH1 domain-containing protein 2

NCBI Reference Sequences (RefSeq)

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_001082619.1NP_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, ENST00000431456.5
    Conserved Domains (1) summary
    cl00175
    Location:25271
    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_138789.3NP_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
    Q8WWB5
    Related
    ENSP00000280350.4, ENST00000280350.8
    Conserved Domains (1) summary
    cl00175
    Location:25313
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    112052161..112074171 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017205.2XP_016872694.1  PIH1 domain-containing protein 2 isoform X7

    Conserved Domains (1) summary
    cl00175
    Location:25271
    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_017017202.2XP_016872691.1  PIH1 domain-containing protein 2 isoform X3

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

  4. XM_017017203.2XP_016872692.1  PIH1 domain-containing protein 2 isoform X4

    Conserved Domains (1) summary
    cl00175
    Location:25276
    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_017017201.2XP_016872690.1  PIH1 domain-containing protein 2 isoform X1

  6. XM_024448350.1XP_024304118.1  PIH1 domain-containing protein 2 isoform X5

    Conserved Domains (1) summary
    cl00175
    Location:25271
    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.
  7. XM_024448349.1XP_024304117.1  PIH1 domain-containing protein 2 isoform X2

    Related
    ENSP00000431841.1, ENST00000532211.5
    Conserved Domains (1) summary
    cl00175
    Location:25313
    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.
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