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

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; AllianceGenome:HGNC:11996
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: mouse all
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Genomic context

Location:: 9q34.11

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (127731524..127735294, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (139938968..139942738, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (130493803..130497573, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Salusin-alpha alleviates lipid metabolism disorders via regulation of the downstream lipogenesis genes through the LKB1/AMPK pathway.
Title: Salusin‑α alleviates lipid metabolism disorders via regulation of the downstream lipogenesis genes through the LKB1/AMPK pathway.
Use of salusin beta for predicting atherosclerosis and components of the metabolic syndrome.
Title: Use of salusin β for predicting atherosclerosis and components of the metabolic syndrome.
Overexpression of salusin-beta downregulates adipoR1 expression to prevent fatty acid oxidation in HepG2 cells.
Title: Overexpression of salusin‑β downregulates adipoR1 expression to prevent fatty acid oxidation in HepG2 cells.
TOR2A Variants in Blepharospasm.
Title: TOR2A Variants in Blepharospasm.
Downregulation of Salusin-beta protects renal tubular epithelial cells against high glucose-induced inflammation, oxidative stress, apoptosis and lipid accumulation via suppressing miR-155-5p.
Title: Downregulation of Salusin-β protects renal tubular epithelial cells against high glucose-induced inflammation, oxidative stress, apoptosis and lipid accumulation via suppressing miR-155-5p.
Evaluation of salusin-alpha and salusin-beta levels in patients with type 2 diabetes mellitus and determination of the impact of severity of hyperglycemia on salusin levels.
Title: Evaluation of salusin-α and salusin-β levels in patients with type 2 diabetes mellitus and determination of the impact of severity of hyperglycemia on salusin levels.
Serum salusin-beta in relation to atherosclerosis and ventricular dysfunction in patients with type 2 diabetes mellitus.
Title: Serum salusin-β in relation to atherosclerosis and ventricular dysfunction in patients with type 2 diabetes mellitus.
The importance of circulating levels of salusin-alpha, salusin-beta, and heregulin-beta1 in atherosclerotic coronary arterial disease.
Title: The importance of circulating levels of salusin-α, salusin-β, and heregulin-β1 in atherosclerotic coronary arterial disease.
Assessment of salusin alpha and salusin beta levels in patients with newly diagnosed dipper and non-dipper hypertension.
Title: Assessment of salusin alpha and salusin beta levels in patients with newly diagnosed dipper and non-dipper hypertension.
Salusin-beta mediates tubular cell apoptosis in acute kidney injury: Involvement of the PKC/ROS signaling pathway.
Title: Salusin-β mediates tubular cell apoptosis in acute kidney injury: Involvement of the PKC/ROS signaling pathway.

Submit: New GeneRIF Correction See all GeneRIFs (35)

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)

HIV-1 interactions

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SH2D3C_9032 (e-PCR)
- UniSTS:468687

WI-15876 (e-PCR)
- UniSTS:63203

NoName (e-PCR)
- UniSTS:484095

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables hormone activity	IDA Inferred from Direct Assay more info	PubMed
enables hormone activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	IC Inferred by Curator more info	PubMed
involved_in cell-cell signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in chaperone cofactor-dependent protein refolding	IEA Inferred from Electronic Annotation more info
involved_in killing of cells of another organism	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cAMP-mediated signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of calcium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info
involved_in vasopressin secretion	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in endomembrane system	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum lumen	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum lumen	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IEA Inferred from Electronic Annotation more info
is_active_in nuclear envelope	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: prosalusin

Names: salusin-beta; torsin-2A; torsin-related protein 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.

Genomic

NG_030463.2 RefSeqGene

Range

5000..8770

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001085347.3 → NP_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

UniProtKB/Swiss-Prot

A4FU12, A4FU13, Q3ZCN9, Q3ZCP0, Q5JU68, Q5JU69, Q66K87, Q6UXW6, Q8NAN5, Q96SL7

Related

ENSP00000362381.5, ENST00000373284.10

Conserved Domains (2) summary

cl21455
Location:35 → 160

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

cl26527
Location:44 → 279

ClpB_D2-small; C-terminal, D2-small domain, of ClpB protein
NM_001134430.3 → NP_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

Q8N2E6

Related

ENSP00000338317.6, ENST00000336067.10

Conserved Domains (1) summary

cl21455
Location:35 → 160

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_001134431.3 → NP_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
NM_001252018.2 → NP_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

Conserved Domains (1) summary

COG0542
Location:25 → 117

ClpA; ATP-dependent Clp protease ATP-binding subunit ClpA [Posttranslational modification, protein turnover, chaperones]
NM_001252021.2 → NP_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

Conserved Domains (1) summary

COG0542
Location:25 → 117

ClpA; ATP-dependent Clp protease ATP-binding subunit ClpA [Posttranslational modification, protein turnover, chaperones]
NM_001252023.2 → NP_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
NM_130459.4 → NP_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:35 → 160

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

127731524..127735294 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047423237.1 → XP_047279193.1 prosalusin isoform X2
XM_011518554.3 → XP_011516856.1 prosalusin isoform X1

Conserved Domains (2) summary

smart00382
Location:85 → 226

AAA; ATPases associated with a variety of cellular activities

cl21455
Location:35 → 159

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_047423238.1 → XP_047279194.1 prosalusin isoform X3