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PRM2 protamine 2 [ Homo sapiens (human) ]

Gene ID: 5620, updated on 5-Aug-2022

Summary

Official Symbol
PRM2provided by HGNC
Official Full Name
protamine 2provided by HGNC
Primary source
HGNC:HGNC:9448
See related
Ensembl:ENSG00000122304 MIM:182890; AllianceGenome:HGNC:9448
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
CT94.2
Summary
Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis, and are the major DNA-binding proteins in the nucleus of sperm in many vertebrates. They package the sperm DNA into a highly condensed complex in a volume less than 5% of a somatic cell nucleus. Many mammalian species have only one protamine (protamine 1); however, a few species, including human and mouse, have two. This gene encodes protamine 2, which is cleaved to give rise to a family of protamine 2 peptides. Alternatively spliced transcript variants have also been found for this gene. [provided by RefSeq, Sep 2015]
Expression
Restricted expression toward testis (RPKM 2357.8) See more
Orthologs
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Genomic context

See PRM2 in Genome Data Viewer
Location:
16p13.13
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (11275639..11276480, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (11311859..11312700, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (11369496..11370337, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371082 Neighboring gene small nucleolar RNA SNORA48 Neighboring gene protamine 3 Neighboring gene small nucleolar RNA U13 Neighboring gene protamine 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

EBI GWAS Catalog

Description
Genetic variants associated with disordered eating.
EBI GWAS Catalog
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ27447

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables cadmium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in chromosome condensation IEA
Inferred from Electronic Annotation
more info
 
involved_in chromosome organization TAS
Traceable Author Statement
more info
PubMed 
involved_in nucleus organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in spermatid development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in male germ cell nucleus IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
PubMed 
part_of nucleosome IEA
Inferred from Electronic Annotation
more info
 
located_in nucleus HDA PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
protamine-2
Names
cancer/testis antigen family 94, member 2
sperm histone P2
sperm protamine P2
testicular secretory protein Li 40

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_001286356.2NP_001273285.1  protamine-2 isoform 2

    See identical proteins and their annotated locations for NP_001273285.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate acceptor splice site at the last exon that causes a frameshift compared to variant 1. The resulting isoform (2) has a longer and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC009121
    Consensus CDS
    CCDS66944.1
    UniProtKB/Swiss-Prot
    P04554
    Related
    ENSP00000403681.2, ENST00000435245.2
  2. NM_001286357.2NP_001273286.1  protamine-2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses alternate donor and acceptor splice sites at the junction of exons 1 and 2 compared to variant 1. The resulting isoform (3) lacks an internal protein segment and has a shorter C-terminus compared to isoform 1.
    Source sequence(s)
    AC009121
  3. NM_001286358.2NP_001273287.1  protamine-2 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate acceptor splice site at the last exon that causes a frameshift compared to variant 1. The resulting isoform (4) has a longer and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC009121
    UniProtKB/Swiss-Prot
    P04554
  4. NM_001286359.2NP_001273288.1  protamine-2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate donor splice site at the first exon compared to variant 1. The resulting isoform (5) has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC009121
    UniProtKB/Swiss-Prot
    P04554
  5. NM_002762.4NP_002753.2  protamine-2 isoform 1

    See identical proteins and their annotated locations for NP_002753.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes the predominant isoform (1).
    Source sequence(s)
    AC009121
    Consensus CDS
    CCDS42118.1
    UniProtKB/Swiss-Prot
    P04554, Q6ZMM0
    UniProtKB/TrEMBL
    Q1LZN1
    Related
    ENSP00000241808.5, ENST00000241808.9

RNA

  1. NR_104428.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) is alternatively spliced at the 3' end compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC009121

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    11275639..11276480 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    11311859..11312700 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)