RHOXF2 Rhox homeobox family member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RHOXF2provided by HGNC
Official Full Name: Rhox homeobox family member 2provided by HGNC
Primary source: HGNC:HGNC:30011
See related: Ensembl:ENSG00000131721 MIM:300447; AllianceGenome:HGNC:30011
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: THG1; CT107; PEPP2; PEPP-2
Summary: This gene, which encodes a transcriptional repressor, is one of two paralogous X-linked homeobox-containing genes and is highly expressed in a variety of cancers. In addition, the encoded protein associates with the cell membrane and with microtubules, and is concentrated at the leading edge of migratory cells. [provided by RefSeq, Dec 2015]
Expression: Restricted expression toward testis (RPKM 22.1) See more
Orthologs: all
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Genomic context

Location:: Xq24

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (120158613..120165630)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (118533725..118540742)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (119292519..119299536)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Human Thg1, two critical tRNA-interacting residues, His-152 and Lys-187, alanine-substituted variants maintain a similar overall interaction with the anticodon region, arguing against the sufficiency of this interaction for driving catalysis. Instead, conservative mutagenesis revealed a new direct function for these residues in recognition of a non-Watson-Crick G-1:A73 bp
Title: Chemical footprinting and kinetic assays reveal dual functions for highly conserved eukaryotic tRNA(His) guanylyltransferase residues.
PEPP2 has a role in regulating function of membrane and microtubules
Title: A likely role for a novel PH-domain containing protein, PEPP2, in connecting membrane and cytoskeleton.
In striking contrast to non-human primates, humans appear to have homogenized their two RHOXF2 copies by the endogenous retrovirus -mediated non-allelic recombination mechanism.
Title: Rapid evolution and copy number variation of primate RHOXF2, an X-linked homeobox gene involved in male reproduction and possibly brain function.
RHOXF2 is highly expressed in some leukemia cell lines and a variety of human cancers. Results indicate that RHOXF2 is involved in carcinogenesis.
Title: Identification of RHOXF2 (PEPP2) as a cancer-promoting gene by expression cloning.

Submit: New GeneRIF Correction

Phenotypes

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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

SHGC-171749 (e-PCR)
- UniSTS:185123

PEPP-2__5666 (e-PCR)
- UniSTS:463791

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: rhox homeobox family member 2

Names: PEPP subfamily gene 2; cancer/testis antigen 107; homeobox protein from AL590526; paired-like homeobox protein PEPP-2; testis homeobox gene 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.