PRAF2 PRA1 domain family member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRAF2provided by HGNC
Official Full Name: PRA1 domain family member 2provided by HGNC
Primary source: HGNC:HGNC:28911
See related: Ensembl:ENSG00000243279 MIM:300840; AllianceGenome:HGNC:28911
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: JM4; Yip6a
Summary: Predicted to be involved in L-glutamate transmembrane transport. Predicted to be located in endosome membrane. Predicted to be active in several cellular components, including GABA-ergic synapse; glutamatergic synapse; and postsynapse. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in brain (RPKM 27.2), testis (RPKM 14.5) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp11.23

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (49071161..49074002, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (48482886..48485729, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (48928818..48931661, complement)

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?

Control of CCR5 Cell-Surface Targeting by the PRAF2 Gatekeeper.
Title: Control of CCR5 Cell-Surface Targeting by the PRAF2 Gatekeeper.
PRAF2 could be used as a potential prognostic biomarker and represent a potential therapeutic target for ESCC.
Title: PRAF2 overexpression predicts poor prognosis and promotes tumorigenesis in esophageal squamous cell carcinoma.
PRAF2 plays an essential role in neuroblastoma tumorigenesis and metastasis.
Title: PRAF2 stimulates cell proliferation and migration and predicts poor prognosis in neuroblastoma.
Praf2 is a novel Bcl-xL/Bcl-2 interacting protein with the ability to modulate survival of cancer cells
Title: Praf2 is a novel Bcl-xL/Bcl-2 interacting protein with the ability to modulate survival of cancer cells.
PRAF2 expression is elevated in various tumors with exceptionally high expression in malignant gliomas, and may thus presents a candidate molecular target for therapeutic intervention.
Title: Subcellular distribution and expression of prenylated Rab acceptor 1 domain family, member 2 (PRAF2) in malignant glioma: Influence on cell survival and migration.
The expression of PRAF2 in specific regions of the brain including SVs suggest an important physiological function for this novel protein, possibly by participating in multiple aspects of SV maturation, transport, and signal transmission.
Title: Expression profile of PRAF2 in the human brain and enrichment in synaptic vesicles.
PRAF2 has a role in progression of neuroblastoma
Title: Expression of prenylated Rab acceptor 1 domain family, member 2 (PRAF2) in neuroblastoma: correlation with clinical features, cellular localization, and cerulenin-mediated apoptosis regulation.
PRAF2 (JM4) is CCR5-interacting protein, which is suggested to function in trafficking and membrane localisation of the receptor.
Title: JM4 is a four-transmembrane protein binding to the CCR5 receptor.
CCR5-interacting PRAF2 protein is expressed in several human tissues with a possible function in ER/Golgi transport and vesicular traffic.
Title: Genomic organization, expression profile, and characterization of the new protein PRA1 domain family, member 2 (PRAF2).

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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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 interacts with PRAF2; predicted interaction to be within the endoplasmic reticulum to Golgi transport	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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in L-glutamate transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
located_in endosome membrane	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynapse	IEA Inferred from Electronic Annotation more info
located_in presynapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: PRA1 family protein 2

Names: Jena-Muenchen 4

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.