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PRIM2 DNA primase subunit 2 [ Homo sapiens (human) ]

Gene ID: 5558, updated on 19-Dec-2019

Summary

Official Symbol
PRIM2provided by HGNC
Official Full Name
DNA primase subunit 2provided by HGNC
Primary source
HGNC:HGNC:9370
See related
Ensembl:ENSG00000146143 MIM:176636
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
p58; PRIM2A
Summary
This gene encodes the 58 kilodalton subunit of DNA primase, an enzyme that plays a key role in the replication of DNA. The encoded protein forms a heterodimer with a 49 kilodalton subunit. This heterodimer functions as a DNA-directed RNA polymerase to synthesize small RNA primers that are used to create Okazaki fragments on the lagging strand of the DNA. Alternative splicing of this gene results in multiple transcript variants. This gene has a related pseudogene, which is also present on chromosome 6. [provided by RefSeq, Apr 2014]
Expression
Broad expression in prostate (RPKM 6.3), lymph node (RPKM 1.3) and 21 other tissues See more
Orthologs

Genomic context

See PRIM2 in Genome Data Viewer
Location:
6p11.2
Exon count:
19
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (57314805..57646852)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene BAG cochaperone 2 Neighboring gene RAB23, member RAS oncogene family Neighboring gene uncharacterized LOC100506188 Neighboring gene microRNA 548u Neighboring gene uncharacterized LOC105375103 Neighboring gene tRNA-Ile (anticodon AAT) 1-1

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC75142

Gene Ontology Provided by GOA

Function Evidence Code Pubs
4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
DNA binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to DNA primase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA replication initiation TAS
Traceable Author Statement
more info
 
DNA replication, synthesis of RNA primer IEA
Inferred from Electronic Annotation
more info
 
G1/S transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
telomere maintenance via semi-conservative replication TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
alpha DNA polymerase:primase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
DNA primase large subunit
Names
DNA primase 58 kDa subunit
primase (DNA) subunit 2
primase, DNA, polypeptide 2 (58kDa)
NP_000938.2
NP_001269416.1
NP_001269417.1
XP_011513033.1
XP_016866493.1
XP_016866494.1
XP_016866495.1
XP_024302251.1

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.

Genomic

  1. NG_034261.1 RefSeqGene

    Range
    7826..337046
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000947.5NP_000938.2  DNA primase large subunit isoform a

    See identical proteins and their annotated locations for NP_000938.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    BC017833, BC064931
    Consensus CDS
    CCDS75476.1
    UniProtKB/Swiss-Prot
    P49643
    Related
    ENSP00000484105.1, ENST00000615550.5
    Conserved Domains (2) summary
    cd07322
    Location:28451
    PriL_PriS_Eukaryotic; Eukaryotic core primase: Large subunit, PriL
    COG2219
    Location:26413
    PRI2; Eukaryotic-type DNA primase, large subunit [Replication, recombination and repair]
  2. NM_001282487.2NP_001269416.1  DNA primase large subunit isoform b

    See identical proteins and their annotated locations for NP_001269416.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks multiple 3' coding exons and its 3' terminal exon extends past a splice site used in variant 1, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) is shorter and has a distinct C-terminus, compared to isoform a. Variants 2 and 3 encode the same isoform (b).
    Source sequence(s)
    AL121975, BC017833
    Consensus CDS
    CCDS75477.1
    UniProtKB/Swiss-Prot
    P49643
    UniProtKB/TrEMBL
    A0A024RD43
    Related
    ENSP00000485304.1, ENST00000274891.10
    Conserved Domains (1) summary
    cl11970
    Location:28155
    PriL; Archaeal/eukaryotic core primase: Large subunit, PriL
  3. NM_001282488.1NP_001269417.1  DNA primase large subunit isoform b

    See identical proteins and their annotated locations for NP_001269417.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks multiple 3' coding exons, and its 3' terminal exon extends past a splice site used in variant 1, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) is shorter and has a distinct C-terminus, compared to isoform a. Variants 2 and 3 encode the same isoform (b).
    Source sequence(s)
    BC017833, BI547222
    Consensus CDS
    CCDS75477.1
    UniProtKB/Swiss-Prot
    P49643
    UniProtKB/TrEMBL
    A0A024RD43
    Related
    ENSP00000483201.1, ENST00000370687.6
    Conserved Domains (1) summary
    cl11970
    Location:28155
    PriL; Archaeal/eukaryotic core primase: Large subunit, PriL

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    57314805..57646852
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011004.2XP_016866493.1  DNA primase large subunit isoform X1

  2. XM_017011005.2XP_016866494.1  DNA primase large subunit isoform X2

  3. XM_017011006.2XP_016866495.1  DNA primase large subunit isoform X3

  4. XM_024446483.1XP_024302251.1  DNA primase large subunit isoform X5

    Conserved Domains (1) summary
    cd07322
    Location:12209
    PriL_PriS_Eukaryotic; Eukaryotic core primase: Large subunit, PriL
  5. XM_011514731.3XP_011513033.1  DNA primase large subunit isoform X4

    Conserved Domains (1) summary
    cd07322
    Location:17236
    PriL_PriS_Eukaryotic; Eukaryotic core primase: Large subunit, PriL
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