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    PRELID2 PRELI domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 153768, updated on 3-Apr-2024

    Summary

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    Official Symbol
    PRELID2provided by HGNC
    Official Full Name
    PRELI domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:28306
    See related
    Ensembl:ENSG00000186314 MIM:620750; AllianceGenome:HGNC:28306
    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
    Summary
    Predicted to enable phosphatidic acid transfer activity. Predicted to be involved in phospholipid transport. Predicted to be active in mitochondrial intermembrane space. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in small intestine (RPKM 2.0), colon (RPKM 1.4) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    5q32
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (145228985..145835342, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (145764055..146369665, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (145135907..145214905, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:143949549-143950050 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:143950051-143950550 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:143978403-143978903 Neighboring gene RN7SK pseudogene 246 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:144157357-144158556 Neighboring gene nicotinamide phosphoribosyltransferase pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:144555436-144555639 Neighboring gene NANOG hESC enhancer GRCh37_chr5:144613102-144613603 Neighboring gene argininosuccinate synthetase 1 pseudogene 10 Neighboring gene uncharacterized LOC105378211 Neighboring gene NANOG hESC enhancer GRCh37_chr5:144851246-144851794 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:144858933-144859433 Neighboring gene MPRA-validated peak5512 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:144966712-144967911 Neighboring gene MPRA-validated peak5513 silencer Neighboring gene TRPC6 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16487 Neighboring gene CRISPRi-validated cis-regulatory element chr5.3602 Neighboring gene uncharacterized LOC107986458 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:145315879-145316456 Neighboring gene MPRA-validated peak5514 silencer Neighboring gene Sharpr-MPRA regulatory region 2549 Neighboring gene glutaredoxin and cysteine rich domain containing 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80964 Neighboring gene apolipoprotein O like pseudogene Neighboring gene SH3 domain containing ring finger 2

    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. Conserved expression of the PRELI domain containing 2 gene (Prelid2) during mid-later-gestation mouse embryogenesis. Gao M, et al. J Mol Histol, 2009 Jun. PMID 19847657
    2. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. Hendrickson SL, et al. PLoS One, 2010 Sep 21. PMID 20877624, Free PMC Article
    4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ38376, MGC21644

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidic acid transfer activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in intermembrane lipid transfer IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phospholipid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrial intermembrane space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    PRELI domain-containing protein 2
    Names
    CTC-806A22.1

    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_138492.6 → NP_612501.3  PRELI domain-containing protein 2 isoform c

      See identical proteins and their annotated locations for NP_612501.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in its 5' UTR, initiates translation at a downstream start codon, and lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (c) is shorter, compared to isoform a.
      Source sequence(s)
      AC011355, BC012033, DB266840
      Consensus CDS
      CCDS43377.1
      UniProtKB/Swiss-Prot
      Q8N945
      Related
      ENSP00000377965.2, ENST00000394450.6
      Conserved Domains (1) summary
      pfam04707
      Location:1 → 144
      PRELI; PRELI-like family

    2. NM_182960.4 → NP_892005.1  PRELI domain-containing protein 2 isoform a

      See identical proteins and their annotated locations for NP_892005.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC011355, AK095695, DB266840
      Consensus CDS
      CCDS34262.1
      UniProtKB/Swiss-Prot
      G5EA01, Q8N945, Q96EQ3
      UniProtKB/TrEMBL
      D6RAB6
      Related
      ENSP00000335675.4, ENST00000334744.8
      Conserved Domains (1) summary
      pfam04707
      Location:16 → 185
      PRELI; PRELI-like family

    3. NM_205846.3 → NP_995318.1  PRELI domain-containing protein 2 isoform b

      See identical proteins and their annotated locations for NP_995318.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (b) is shorter, compared to isoform a.
      Source sequence(s)
      AC011355, BQ645893, DB266840
      Consensus CDS
      CCDS34261.1
      UniProtKB/TrEMBL
      D6RAB6
      Related
      ENSP00000506938.1, ENST00000683046.1
      Conserved Domains (1) summary
      pfam04707
      Location:16 → 173
      PRELI; PRELI-like family

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      145228985..145835342 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416830.1 → XP_047272786.1  PRELI domain-containing protein 2 isoform X5

    2. XM_047416832.1 → XP_047272788.1  PRELI domain-containing protein 2 isoform X6

    3. XM_047416828.1 → XP_047272784.1  PRELI domain-containing protein 2 isoform X3

      UniProtKB/Swiss-Prot
      G5EA01, Q8N945, Q96EQ3

    4. XM_017009133.2 → XP_016864622.1  PRELI domain-containing protein 2 isoform X6

    5. XM_017009130.2 → XP_016864619.1  PRELI domain-containing protein 2 isoform X3

      UniProtKB/Swiss-Prot
      G5EA01, Q8N945, Q96EQ3
      UniProtKB/TrEMBL
      D6RAB6
      Conserved Domains (1) summary
      pfam04707
      Location:16 → 185
      PRELI; PRELI-like family

    6. XM_047416829.1 → XP_047272785.1  PRELI domain-containing protein 2 isoform X4

      Related
      ENSP00000422789.1, ENST00000511435.1

    7. XM_017009128.2 → XP_016864617.1  PRELI domain-containing protein 2 isoform X2

      UniProtKB/TrEMBL
      D6RAB6

    8. XM_017009135.2 → XP_016864624.1  PRELI domain-containing protein 2 isoform X7

      Conserved Domains (1) summary
      pfam04707
      Location:16 → 123
      PRELI; PRELI-like family

    9. XM_047416831.1 → XP_047272787.1  PRELI domain-containing protein 2 isoform X5

      Related
      ENSP00000424730.1, ENST00000505416.5

    10. XM_017009134.2 → XP_016864623.1  PRELI domain-containing protein 2 isoform X6

    11. XM_017009132.2 → XP_016864621.1  PRELI domain-containing protein 2 isoform X6

    12. XM_017009131.2 → XP_016864620.1  PRELI domain-containing protein 2 isoform X3

      UniProtKB/Swiss-Prot
      G5EA01, Q8N945, Q96EQ3
      UniProtKB/TrEMBL
      D6RAB6
      Conserved Domains (1) summary
      pfam04707
      Location:16 → 185
      PRELI; PRELI-like family

    13. XM_017009127.2 → XP_016864616.1  PRELI domain-containing protein 2 isoform X1

      UniProtKB/TrEMBL
      D6RAB6

    RNA

    1. XR_007058586.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      145764055..146369665 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351843.1 → XP_054207818.1  PRELI domain-containing protein 2 isoform X5

    2. XM_054351846.1 → XP_054207821.1  PRELI domain-containing protein 2 isoform X6

    3. XM_054351841.1 → XP_054207816.1  PRELI domain-containing protein 2 isoform X3

      UniProtKB/Swiss-Prot
      G5EA01, Q8N945, Q96EQ3

    4. XM_054351842.1 → XP_054207817.1  PRELI domain-containing protein 2 isoform X4

    5. XM_054351838.1 → XP_054207813.1  PRELI domain-containing protein 2 isoform X2

    6. XM_054351840.1 → XP_054207815.1  PRELI domain-containing protein 2 isoform X3

      UniProtKB/Swiss-Prot
      G5EA01, Q8N945, Q96EQ3

    7. XM_054351848.1 → XP_054207823.1  PRELI domain-containing protein 2 isoform X7

    8. XM_054351844.1 → XP_054207819.1  PRELI domain-containing protein 2 isoform X5

    9. XM_054351847.1 → XP_054207822.1  PRELI domain-containing protein 2 isoform X6

    10. XM_054351845.1 → XP_054207820.1  PRELI domain-containing protein 2 isoform X6

    11. XM_054351839.1 → XP_054207814.1  PRELI domain-containing protein 2 isoform X3

      UniProtKB/Swiss-Prot
      G5EA01, Q8N945, Q96EQ3

    12. XM_054351837.1 → XP_054207812.1  PRELI domain-containing protein 2 isoform X1

    RNA

    1. XR_008487089.1 RNA Sequence

    2. XR_008487088.1 RNA Sequence

    3. XR_008487090.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N945.1 GenPept UniProtKB/Swiss-Prot:Q8N945

    Gene LinkOut

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

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