RAD54L2 RAD54 like 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAD54L2provided by HGNC
Official Full Name: RAD54 like 2provided by HGNC
Primary source: HGNC:HGNC:29123
See related: Ensembl:ENSG00000164080 MIM:620006; AllianceGenome:HGNC:29123
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
Also known as: ARIP4; HSPC325; SRISNF2L
Summary: Predicted to enable protein kinase binding activity and transcription coregulator activity. Predicted to be involved in chromatin remodeling. Predicted to act upstream of or within positive regulation of transcription by RNA polymerase II. Predicted to be located in nuclear speck. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 3.3), spleen (RPKM 2.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p21.2

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (51538719..51668660)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (51569157..51700178)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (51572735..51702676)

Chromosome 3 - NC_000003.12 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 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?

CircRAD54L2 promotes triple-negative breast cancer progression by regulating the miR-888 family/PDK1 axis.
Title: CircRAD54L2 promotes triple-negative breast cancer progression by regulating the miR-888 family/PDK1 axis.
Impact of GTF2H1 and RAD54L2 polymorphisms on the risk of lung cancer in the Chinese Han population.
Title: Impact of GTF2H1 and RAD54L2 polymorphisms on the risk of lung cancer in the Chinese Han population.
p62 is a novel binding partner for ARIP4, and that its binding regulates the cellular protein level of ARIP4 under conditions of metabolic stress.
Title: Selective autophagic receptor p62 regulates the abundance of transcriptional coregulator ARIP4 during nutrient starvation.
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.
The ATPase activity of ARIP4 was stimulated in the presence of sumoylated Ad4BP/SF-1 and the Ad4BP/SF-1-binding site containing double-stranded DNA.
Title: Transcriptional Suppression by Transient Recruitment of ARIP4 to Sumoylated nuclear receptor Ad4BP/SF-1.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH119150 (e-PCR)
- UniSTS:139042

G63686 (e-PCR)
- UniSTS:140648

SRISNF2L__5314.2 (e-PCR)
- UniSTS:468143

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 ATP-dependent chromatin remodeler activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATP-dependent chromatin remodeler activity	IEA Inferred from Electronic Annotation more info
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables helicase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coregulator activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in chromatin organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: helicase ARIP4

Names: AR interacting protein 4; RAD54-like protein 2; androgen receptor-interacting protein 4

NP_001309182.1

EC 3.6.4.12

NP_001309185.1

EC 3.6.4.12

NP_001374795.1

EC 3.6.4.12

NP_001374796.1

EC 3.6.4.12

NP_001374798.1

EC 3.6.4.12

NP_055921.2

EC 3.6.4.12

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)

NM_001322253.2 → NP_001309182.1 helicase ARIP4 isoform a

Status: VALIDATED

Source sequence(s)

AC092037, AC099050, AC113933

Consensus CDS

CCDS33765.2

UniProtKB/Swiss-Prot

Q8TB57, Q9BV54, Q9Y4B4

UniProtKB/TrEMBL

H0Y760

Conserved Domains (3) summary

PHA03247
Location:1106 → 1414

PHA03247; large tegument protein UL36; Provisional

COG0553
Location:134 → 907

HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]

cd18069
Location:271 → 547

DEXHc_ARIP4; DEXH-box helicase domain of ARIP4
NM_001322256.2 → NP_001309185.1 helicase ARIP4 isoform a

Status: VALIDATED

Source sequence(s)

AC092037, AC099050, AC113933

Consensus CDS

CCDS33765.2

UniProtKB/Swiss-Prot

Q8TB57, Q9BV54, Q9Y4B4

UniProtKB/TrEMBL

H0Y760

Conserved Domains (3) summary

PHA03247
Location:1106 → 1414

PHA03247; large tegument protein UL36; Provisional

COG0553
Location:134 → 907

HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]

cd18069
Location:271 → 547

DEXHc_ARIP4; DEXH-box helicase domain of ARIP4
NM_001387866.1 → NP_001374795.1 helicase ARIP4 isoform c

Status: VALIDATED

Source sequence(s)

AC092037, AC099050, AC113933

UniProtKB/TrEMBL

H0Y760

Conserved Domains (3) summary

PHA03247
Location:1104 → 1412

PHA03247; large tegument protein UL36; Provisional

COG0553
Location:134 → 905

HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]

cd18069
Location:271 → 547

DEXHc_ARIP4; DEXH-box helicase domain of ARIP4
NM_001387867.1 → NP_001374796.1 helicase ARIP4 isoform d

Status: VALIDATED

Source sequence(s)

AC092037, AC099050, AC113933

UniProtKB/TrEMBL

H0Y760

Conserved Domains (3) summary

PHA03247
Location:1101 → 1409

PHA03247; large tegument protein UL36; Provisional

COG0553
Location:134 → 902

HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]

cd18069
Location:271 → 542

DEXHc_ARIP4; DEXH-box helicase domain of ARIP4
NM_001387869.1 → NP_001374798.1 helicase ARIP4 isoform e

Status: VALIDATED

Source sequence(s)

AC092037, AC099050, AC113933

UniProtKB/TrEMBL

H0Y760

Related

ENSP00000410283.1, ENST00000432863.1

Conserved Domains (3) summary

PHA03247
Location:1054 → 1362

PHA03247; large tegument protein UL36; Provisional

COG0553
Location:82 → 855

HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]

cd18069
Location:219 → 495

DEXHc_ARIP4; DEXH-box helicase domain of ARIP4
NM_015106.4 → NP_055921.2 helicase ARIP4 isoform a

See identical proteins and their annotated locations for NP_055921.2

Status: VALIDATED

Source sequence(s)

AC092037, AC099050, AC113933

Consensus CDS

CCDS33765.2

UniProtKB/Swiss-Prot

Q8TB57, Q9BV54, Q9Y4B4

UniProtKB/TrEMBL

H0Y760

Related

ENSP00000507587.1, ENST00000684192.1

Conserved Domains (3) summary

PHA03247
Location:1106 → 1414

PHA03247; large tegument protein UL36; Provisional

COG0553
Location:134 → 907

HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]

cd18069
Location:271 → 547

DEXHc_ARIP4; DEXH-box helicase domain of ARIP4

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_000003.12 Reference GRCh38.p14 Primary Assembly

Range

51538719..51668660

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

51569157..51700178

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001322257.1: Suppressed sequence

Description

NM_001322257.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.