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ALF transcription elongation factor 2

Summary

Gene Symbol

AFF2

Organism

Homo sapiens (human)

External Links

NCBI Gene

2334

PubChem

2334

Alliance of Genome Resources

HGNC:3776

Annotation

Keyword

Alternative splicing
Intellectual disability
Nucleus
Phosphoprotein
RNA-binding
Reference proteome
Triplet repeat expansion
mRNA splicing

Proteins

Displaying 1 entry
UniProt	Protein Name
P51816	Protein FMR-2 Protein Ox19

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 8 in total

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GO Term	Evidence Code	PMID
RNA splicing	IEA
brain development	TAS	8673086
regulation of gene expression	IMP	23562910
negative regulation of gene expression	IEA
mRNA processing	IEA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing [inference]

mRNA metabolic process [inference]

mRNA processing

cellular metabolic process [inference]

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing [inference]

mRNA metabolic process [inference]

mRNA processing

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing [inference]

mRNA metabolic process [inference]

mRNA processing

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing [inference]

mRNA metabolic process [inference]

mRNA processing

primary metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing [inference]

mRNA metabolic process [inference]

mRNA processing

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing [inference]

mRNA metabolic process [inference]

mRNA processing

organic cyclic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing [inference]

mRNA metabolic process [inference]

mRNA processing

cellular process [inference]

cellular metabolic process [inference]

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing [inference]

mRNA metabolic process [inference]

mRNA processing

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing [inference]

mRNA metabolic process [inference]

mRNA processing

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing [inference]

mRNA metabolic process [inference]

mRNA processing

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

nucleus organization [inference]

nuclear body organization [inference]

nuclear speck organization

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

cognition [inference]

learning or memory

behavior [inference]

learning or memory

developmental process [inference]

anatomical structure development [inference]

animal organ development [inference]

brain development

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

regulation of cellular metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of RNA metabolic process [inference]

regulation of RNA splicing

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

regulation of nitrogen compound metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of RNA metabolic process [inference]

regulation of RNA splicing

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

regulation of RNA metabolic process [inference]

regulation of RNA splicing

regulation of primary metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of RNA metabolic process [inference]

regulation of RNA splicing

negative regulation of biological process [inference]

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of cellular process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

regulation of cellular process [inference]

regulation of cellular metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of RNA metabolic process [inference]

regulation of RNA splicing

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

negative regulation of cellular process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression

Displaying **all 2** entries
GO Term	Evidence Code	PMID
nuclear speck	IBA IDA	19136466
super elongation complex	IBA

GO Hierarchy

cellular component

protein-containing complex [inference]

nuclear protein-containing complex [inference]

transcription elongation factor complex [inference]

super elongation complex

cellular anatomical entity [inference]

nuclear body [inference]

nuclear speck

Displaying 1 entry
GO Term	Evidence Code	PMID
G-quadruplex RNA binding	IBA ISS

GO Hierarchy

molecular function

binding [inference]

organic cyclic compound binding [inference]

nucleic acid binding [inference]

RNA binding [inference]

G-quadruplex RNA binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

AF4/FMR2 family member

Functional Category

E: Amino acid transport and metabolism
K: Transcription
T: Signal transduction mechanisms

Displaying 1 entry
Gene Ontology
regulation of gene expression

Displaying **all 2** entries
InterPro
AF4/FMR2 family
AF4/FMR2, C-terminal homology domain

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0080984	X-linked intellectual developmental disorder 109	Alliance of Genome Resources
DOID:9352	type 2 diabetes mellitus	Alliance of Genome Resources

Ortholog

Displaying entries **1 - 10** of 69 in total

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Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Mus musculus	14266		MGI:1202294	MOUSE66124
Drosophila melanogaster	33496		FB:FBgn0041111
Rattus norvegicus	293922		RGD:1565592	RATNO45848
Pan troglodytes	450122	9598_0:0058ba		PANTR46969
Canis lupus familiaris	492193			CANLF20226
Bos taurus	522215			BOVIN36404
Macaca mulatta	700758			MACMU48498
Monodelphis domestica	100025041			MONDO36124
Equus caballus	100055437			HORSE43915
Taeniopygia guttata	100218859			TAEGU22624

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024