1. Gene
  2. RAD54L2 - RAD54 like 2 Gene

RAD54L2 - RAD54 like 2 Gene

Homo sapiens

Also known as ARIP4; HSPC325; SRISNF2L

Gene ID: 23132 | Gene type: protein coding

About RAD54L2

Cytogenetic location: 3p21.2 Genomic coordinates (GRCh38): 3:51,538,719-51,668,660 (from NCBI)

This gene has 7 transcripts (splice variants), 260 orthologues and 30 paralogues. Ubiquitous expression in testis (RPKM 3.3), spleen (RPKM 2.8) and 25 other tissues.

Summary

Predicted to enable ATP hydrolysis activity; protein kinase binding activity; and transcription coregulator activity. Predicted to be involved in DNA duplex unwinding. 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, Apr 2022]

RAD54L2 Products(6)

mRNA Protein Name
NM_001322253.2 NP_001309182.1 helicase ARIP4 isoform a
NM_001322256.2 NP_001309185.1 helicase ARIP4 isoform a
NM_001387866.1 NP_001374795.1 helicase ARIP4 isoform c
NM_001387867.1 NP_001374796.1 helicase ARIP4 isoform d
NM_001387869.1 NP_001374798.1 helicase ARIP4 isoform e
NM_015106.4 NP_055921.2 helicase ARIP4 isoform a

RAD54L2 Protein Structure

SNF2_N

SNF2_N: SNF2 family N-terminal domain (274 - 597)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (778 - 854)

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  • 1467 a.a.
Protein Preferred Names Protein Names

helicase ARIP4

AR interacting protein 4

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, Autosomal Dominant 7

MRD7

Mental Retardation, Autosomal Dominant 7

Autosomal Dominant Non-Syndromic Intellectual Disability 7

Dyrk1a Syndrome

Autosomal Dominant Intellectual Developmental Disorder 7

Autosomal Dominant Mental Retardation 7

Mental Retardation, Autosomal Dominant, Type 7

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus RAD54L2 VGNC VGNC:49152
Canis familiaris RAD54L2 VGNC VGNC:49612
Macaca mulatta RAD54L2 VGNC VGNC:108150
Mus musculus RAD54L2 MGD MGI:1933196
Felis catus RAD54L2 VGNC VGNC:64479
Rattus norvegicus RAD54L2 RGD RGD:1561889