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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

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