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TOR2A torsin family 2 member A [ Homo sapiens (human) ]

Gene ID: 27433, updated on 1-Jun-2020

Summary

Official Symbol
TOR2Aprovided by HGNC
Official Full Name
torsin family 2 member Aprovided by HGNC
Primary source
HGNC:HGNC:11996
See related
Ensembl:ENSG00000160404 MIM:608052
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
TORP1
Summary
This gene encodes a member of the AAA family of adenosine triphosphatases with similarity to Clp proteases and heat shock proteins. Alternative splicing at this locus results in the translation of multiple isoforms of the encoded protein, some of which contain salusin peptides in the C-terminal region. These peptides may play roles in hypotension, myocardial growth and the induction of mitogenesis, and may also be involved in the pathogenesis of atherosclerosis. The antimicrobial peptide salusin-beta has antibacterial activity. [provided by RefSeq, Nov 2014]
Expression
Ubiquitous expression in bone marrow (RPKM 7.4), testis (RPKM 5.3) and 25 other tissues See more
Orthologs

Genomic context

See TOR2A in Genome Data Viewer
Location:
9q34.11
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (127731524..127735328, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (130493803..130497628, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene syntaxin binding protein 1 Neighboring gene microRNA 3911 Neighboring gene peptidyl-tRNA hydrolase 1 homolog Neighboring gene cilia and flagella associated protein 157 Neighboring gene tetratricopeptide repeat domain 16 Neighboring gene Sharpr-MPRA regulatory region 4083 Neighboring gene SH2 domain containing 3C Neighboring gene uncharacterized LOC107987132

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?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of torsin family 2, member A (TOR2A) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14771, MGC99558

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
chaperone cofactor-dependent protein refolding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum lumen IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum lumen IDA
Inferred from Direct Assay
more info
PubMed 
nuclear envelope IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
prosalusin
Names
salusin-beta
torsin-2A
torsin-related protein 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_030463.1 RefSeqGene

    Range
    5001..8826
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001085347.3NP_001078816.2  prosalusin isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AL162426
    Consensus CDS
    CCDS43879.1
    Related
    ENSP00000362381.5, ENST00000373284.10
    Conserved Domains (2) summary
    cl21455
    Location:35160
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    cl26527
    Location:44279
    ClpB_D2-small; C-terminal, D2-small domain, of ClpB protein
  2. NM_001134430.3NP_001127902.1  prosalusin isoform c precursor

    See identical proteins and their annotated locations for NP_001127902.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (c) is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AK075520, AY358180, CN263138
    Consensus CDS
    CCDS48024.1
    UniProtKB/Swiss-Prot
    Q5JU69, Q8N2E6
    Related
    ENSP00000338317.6, ENST00000336067.10
    Conserved Domains (1) summary
    cl21455
    Location:35160
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  3. NM_001134431.3NP_001127903.1  prosalusin isoform d precursor

    See identical proteins and their annotated locations for NP_001127903.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an exon in the 5' coding region and two splice sites in the 3' region, resulting in a frameshift and longer 3' UTR, compared to variant 1. The encoded isoform (d) is significantly shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AL162426
    Consensus CDS
    CCDS48025.1
    UniProtKB/Swiss-Prot
    Q5JU69
    Related
    ENSP00000485268.1, ENST00000463577.2
  4. NM_001252018.2NP_001238947.2  prosalusin isoform f

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an exon and uses a downstream, in-frame start codon, compared to variant 1. Variants 6 and 7 encode the same isoform (f), which has a shorter N-terminus compared to isoform a.
    Source sequence(s)
    AL162426
  5. NM_001252021.2NP_001238950.2  prosalusin isoform f

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) uses an alternate splice site, lacks an exon and uses a downstream, in-frame start codon, compared to variant 1. Variants 6 and 7 encode the same isoform (f), which has a shorter N-terminus compared to isoform a.
    Source sequence(s)
    AL162426
  6. NM_001252023.2NP_001238952.1  prosalusin isoform e

    See identical proteins and their annotated locations for NP_001238952.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two exons and uses a downstream, in-frame start codon, compared to variant 1. The encoded isoform (e) is significantly shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AY358180, BM695589, CN263138
    UniProtKB/Swiss-Prot
    Q5JU69
  7. NM_130459.4NP_569726.2  prosalusin isoform b precursor

    See identical proteins and their annotated locations for NP_569726.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two splice sites in the 3' region, resulting in a frameshift and longer 3' UTR, compared to variant 1. The encoded isoform (b) is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AL162426
    Consensus CDS
    CCDS6876.1
    UniProtKB/Swiss-Prot
    Q5JU69
    Related
    ENSP00000362378.5, ENST00000373281.8
    Conserved Domains (1) summary
    cl21455
    Location:35160
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    127731524..127735328 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518554.2XP_011516856.1  prosalusin isoform X1

    Conserved Domains (2) summary
    smart00382
    Location:85226
    AAA; ATPases associated with a variety of cellular activities
    cl21455
    Location:35159
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RNA

  1. XR_001746275.1 RNA Sequence

  2. XR_001746274.2 RNA Sequence

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