U2AF2 U2 small nuclear RNA auxiliary factor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: U2AF2provided by HGNC
Official Full Name: U2 small nuclear RNA auxiliary factor 2provided by HGNC
Primary source: HGNC:HGNC:23156
See related: Ensembl:ENSG00000063244 MIM:191318; AllianceGenome:HGNC:23156
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: DEVDFB; U2AF65
Summary: U2 auxiliary factor (U2AF), comprised of a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the U2AF large subunit which contains a sequence-specific RNA-binding region with 3 RNA recognition motifs and an Arg/Ser-rich domain necessary for splicing. The large subunit binds to the polypyrimidine tract of introns early during spliceosome assembly. Multiple transcript variants have been detected for this gene, but the full-length natures of only two have been determined to date. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in spleen (RPKM 33.5), appendix (RPKM 33.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.42

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (55655035..55674716)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (58750963..58771692)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (56166401..56186082)

Chromosome 19 - NC_000019.10 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?

The U2AF65/circNCAPG/RREB1 feedback loop promotes malignant phenotypes of glioma stem cells through activating the TGF-beta pathway.
Title: The U2AF65/circNCAPG/RREB1 feedback loop promotes malignant phenotypes of glioma stem cells through activating the TGF-β pathway.
All-Atom Simulations Elucidate the Impact of U2AF2 Cancer-Associated Mutations on Pre-mRNA Recognition.
Title: All-Atom Simulations Elucidate the Impact of U2AF2 Cancer-Associated Mutations on Pre-mRNA Recognition.
A UHM-ULM interface with unusual structural features contributes to U2AF2 and SF3B1 association for pre-mRNA splicing.
Title: A UHM-ULM interface with unusual structural features contributes to U2AF2 and SF3B1 association for pre-mRNA splicing.
LncRNA NEAT1 stabilized Wnt3a via U2AF2 and activated Wnt/beta-catenin pathway to alleviate ischemia stroke induced injury.
Title: LncRNA NEAT1 stabilized Wnt3a via U2AF2 and activated Wnt/β-catenin pathway to alleviate ischemia stroke induced injury.
Pre-mRNA splicing factor U2AF2 recognizes distinct conformations of nucleotide variants at the center of the pre-mRNA splice site signal.
Title: Pre-mRNA splicing factor U2AF2 recognizes distinct conformations of nucleotide variants at the center of the pre-mRNA splice site signal.
U2 small nuclear RNA auxiliary factor 2, transcriptionally activated by the transcription factor Dp-1/E2F transcription factor 1 complex, enhances the growth and aerobic glycolysis of leiomyosarcoma cells.
Title: U2 small nuclear RNA auxiliary factor 2, transcriptionally activated by the transcription factor Dp-1/E2F transcription factor 1 complex, enhances the growth and aerobic glycolysis of leiomyosarcoma cells.
Circular RNA FOXP1 Induced by ZNF263 Upregulates U2AF2 Expression to Accelerate Renal Cell Carcinoma Tumorigenesis and Warburg Effect through Sponging miR-423-5p.
Title: Circular RNA FOXP1 Induced by ZNF263 Upregulates U2AF2 Expression to Accelerate Renal Cell Carcinoma Tumorigenesis and Warburg Effect through Sponging miR-423-5p.
Identification of long non-coding RNAs in advanced prostate cancer associated with androgen receptor splicing factors.
Title: Identification of long non-coding RNAs in advanced prostate cancer associated with androgen receptor splicing factors.
Representative cancer-associated U2AF2 mutations alter RNA interactions and splicing.
Title: Representative cancer-associated U2AF2 mutations alter RNA interactions and splicing.
Influenza virus natural sequence heterogeneity in segment 8 affects interactions with cellular RNA-binding proteins and splicing efficiency.
Title: Influenza virus natural sequence heterogeneity in segment 8 affects interactions with cellular RNA-binding proteins and splicing efficiency.

Submit: New GeneRIF Correction See all GeneRIFs (61)

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

Associated conditions

Description	Tests
Developmental delay, dysmorphic facies, and brain anomalies MedGen: C5882698 OMIM: 620535 GeneReviews: Not available	not available

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	Expression of HIV-1 Tat upregulates the abundance of U2 small nuclear RNA auxiliary factor 2 (U2AF2) in the nucleoli of Jurkat T-cells	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

U2af2 (e-PCR), detects polymorphism
- UniSTS:479300

RH92186 (e-PCR)
- UniSTS:85406

U2AF2_7999 (e-PCR)
- UniSTS:467966

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables C2H2 zinc finger domain binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables molecular function inhibitor activity	EXP Inferred from Experiment more info	PubMed
enables poly-pyrimidine tract binding	IBA Inferred from Biological aspect of Ancestor more info
enables pre-mRNA 3'-splice site binding	IBA Inferred from Biological aspect of Ancestor more info
enables pre-mRNA 3'-splice site binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mRNA processing	TAS Traceable Author Statement more info	PubMed
involved_in mRNA splicing, via spliceosome	IC Inferred by Curator more info	PubMed
involved_in mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed
involved_in mRNA splicing, via spliceosome	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of RNA splicing	IDA Inferred from Direct Assay more info	PubMed
involved_in spliceosomal complex assembly	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of Prp19 complex	IDA Inferred from Direct Assay more info	PubMed
part_of U2-type prespliceosome	IBA Inferred from Biological aspect of Ancestor more info
part_of U2-type prespliceosome	IDA Inferred from Direct Assay more info	PubMed
part_of U2AF complex	IBA Inferred from Biological aspect of Ancestor more info
part_of U2AF complex	IDA Inferred from Direct Assay more info	PubMed
part_of U2AF complex	IPI Inferred from Physical Interaction more info	PubMed
part_of commitment complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nuclear speck	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
part_of spliceosomal complex	IDA Inferred from Direct Assay more info	PubMed
part_of spliceosomal complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: splicing factor U2AF 65 kDa subunit

Names: U2 (RNU2) small nuclear RNA auxiliary factor 2; U2 auxiliary factor 65 kDa subunit; U2 small nuclear ribonucleoprotein auxiliary factor (65kD); U2 snRNP auxiliary factor large subunit; hU2AF65

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_032904.1 RefSeqGene

Range

5001..25667

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_623

mRNA and Protein(s)

NM_001012478.2 → NP_001012496.1 splicing factor U2AF 65 kDa subunit isoform b

See identical proteins and their annotated locations for NP_001012496.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AC008735, BC008740, BC030574

Consensus CDS

CCDS46197.1

UniProtKB/TrEMBL

B5BU25

Related

ENSP00000388475.1, ENST00000450554.6

Conserved Domains (1) summary

TIGR01642
Location:63 → 470

U2AF_lg; U2 snRNP auxilliary factor, large subunit, splicing factor
NM_007279.3 → NP_009210.1 splicing factor U2AF 65 kDa subunit isoform a

See identical proteins and their annotated locations for NP_009210.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AC008735, BC008740, BC030574, X64044

Consensus CDS

CCDS12933.1

UniProtKB/Swiss-Prot

P26368, Q96HC5

UniProtKB/TrEMBL

B5BU25

Related

ENSP00000307863.3, ENST00000308924.9

Conserved Domains (1) summary

TIGR01642
Location:63 → 474

U2AF_lg; U2 snRNP auxilliary factor, large subunit, splicing factor

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_000019.10 Reference GRCh38.p14 Primary Assembly

Range

55655035..55674716

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011526410.2 → XP_011524712.1 splicing factor U2AF 65 kDa subunit isoform X1

Conserved Domains (1) summary

TIGR01642
Location:1 → 370

U2AF_lg; U2 snRNP auxilliary factor, large subunit, splicing factor
XM_047438120.1 → XP_047294076.1 splicing factor U2AF 65 kDa subunit isoform X2