FXR2 FMR1 autosomal homolog 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FXR2provided by HGNC
Official Full Name: FMR1 autosomal homolog 2provided by HGNC
Primary source: HGNC:HGNC:4024
See related: Ensembl:ENSG00000129245 MIM:605339; AllianceGenome:HGNC:4024
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: FXR2P; FMR1L2
Summary: The protein encoded by this gene is a RNA binding protein containing two KH domains and one RCG box, which is similar to FMRP and FXR1. It associates with polyribosomes, predominantly with 60S large ribosomal subunits. This encoded protein may self-associate or interact with FMRP and FXR1. It may have a role in the development of fragile X cognitive disability syndrome. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in heart (RPKM 19.4), testis (RPKM 17.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.1

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (7591230..7614897, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (7495481..7519118, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (7494548..7518215, complement)

Chromosome 17 - NC_000017.11 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?

LLPS of FXR proteins drives replication organelle clustering for beta-coronaviral proliferation.
Title: LLPS of FXR proteins drives replication organelle clustering for β-coronaviral proliferation.
Spatial control of nucleoporin condensation by fragile X-related proteins.
Title: Spatial control of nucleoporin condensation by fragile X-related proteins.
Fragile X-related protein family: a double-edged sword in neurodevelopmental disorders and cancer.
Title: Fragile X-related protein family: a double-edged sword in neurodevelopmental disorders and cancer.
Inhibition of the remaining family member FXR1 selectively blocks cell proliferation in human cancer cells containing homozygous deletion of both TP53 and FXR2 in a collateral lethality manner.
Title: FXR1 regulates transcription and is required for growth of human cancer cells with TP53/FXR2 homozygous deletion.
An accumulation of 8 SNPs in the fragile gene family (FMR1, FXR1 and FXR2)were found associated with autistic traits in a sample of male patients.
Title: Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes.
Data show that the nuclear localization signals of the FXR1 and FXR2 comprise tandem Tudor domain architectures.
Title: Structural studies of the tandem Tudor domains of fragile X mental retardation related proteins FXR1 and FXR2.
These results indicate that FMR1 gene function is evolutionarily conserved in neural mechanisms and cannot be compensated by either FXR1 or FXR2, but that all three proteins can substitute for each other in non-neuronal requirements.
Title: Fragile X mental retardation protein has a unique, evolutionarily conserved neuronal function not shared with FXR1P or FXR2P.
FXR1P and FXR2P KH2 domains bind G-quadruplex and kissing complex RNA with the same affinity as the FMRP KH2 domain.
Title: Discrimination of common and unique RNA-binding activities among Fragile X mental retardation protein paralogs.

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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

EBI GWAS Catalog

Description
Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide scan identifies variant in TNFSF13 associated with serum IgM in a healthy Chinese male population. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Fragile X mental retardation, autosomal homolog 2 (FXR2) is identified to interact with HIV-1 Tat mutant Nullbasic in HeLa cells by LC MS/MS	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

RH76489 (e-PCR)
- UniSTS:92423

STS-N93513 (e-PCR)
- UniSTS:1840

A009W19 (e-PCR)
- UniSTS:82815

D17S812E (e-PCR)
- UniSTS:147328

G32913 (e-PCR)
- UniSTS:117492

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables mRNA 3'-UTR binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables translation regulator activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in animal organ development	IBA Inferred from Biological aspect of Ancestor more info
involved_in dentate gyrus development	ISS Inferred from Sequence or Structural Similarity more info
involved_in mRNA destabilization	ISS Inferred from Sequence or Structural Similarity more info
involved_in mRNA transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of long-term neuronal synaptic plasticity	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of translation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of mRNA stability	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of translation at presynapse, modulating synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasmic stress granule	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasmic stress granule	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in membrane	HDA more info	PubMed
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: RNA-binding protein FXR2

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_028105.1 RefSeqGene

Range

5001..28668

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_285

mRNA and Protein(s)

NM_004860.4 → NP_004851.2 RNA-binding protein FXR2

See identical proteins and their annotated locations for NP_004851.2

Status: REVIEWED

Source sequence(s)

AA593676, BC020090, DA114906

Consensus CDS

CCDS45604.1

UniProtKB/Swiss-Prot

B2R9M2, D3DTQ1, P51116, Q86V09, Q8WUM2

UniProtKB/TrEMBL

A0A994J7P9

Related

ENSP00000250113.7, ENST00000250113.12

Conserved Domains (5) summary

smart00322
Location:230 → 290

KH; K homology RNA-binding domain

pfam00013
Location:295 → 362

KH_1; KH domain

pfam05641
Location:72 → 127

Agenet; Agenet domain

pfam12235
Location:364 → 473

FXMRP1_C_core; Fragile X-related 1 protein core C terminal

pfam16096
Location:510 → 577

FXR_C1; Fragile X-related 1 protein C-terminal region 2