AFF2 - ALF transcription elongation factor 2 Gene

Also Known as FMR2; MRX2; OX19; FMR2P; FRAXE; XLID109

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2334

About AFF2

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:148,500,617-149,000,663 (from NCBI)

This gene has 7 transcripts (splice variants), 209 orthologues, 3 paralogues and is associated with 3 phenotypes. Biased expression in placenta (RPKM 3.7), bone marrow (RPKM 2.5) and 8 other tissues.

Summary

This gene encodes a putative transcriptional activator that is a member of the AF4\FMR2 gene family. This gene is associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polymorphism in the fragile X E locus results in silencing of this gene causing Fragile X E syndrome. Fragile X E syndrome is a form of nonsyndromic X-linked cognitive disability. In addition, this gene contains 6-25 GCC repeats that are expanded to >200 repeats in the disease state. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jul 2016]

AFF2 Products (6)

mRNA	Protein	Name
NM_001169122.2	NP_001162593.1	AF4/FMR2 family member 2 isoform 2
NM_001169123.2	NP_001162594.1	AF4/FMR2 family member 2 isoform 3
NM_001169124.2	NP_001162595.1	AF4/FMR2 family member 2 isoform 4
NM_001169125.2	NP_001162596.1	AF4/FMR2 family member 2 isoform 5
NM_001170628.1	NP_001164099.1	AF4/FMR2 family member 2 isoform 6
NM_002025.4	NP_002016.2	AF4/FMR2 family member 2 isoform 1

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within nuclear speck organization	IMP IMP: Inferred from mutant phenotype	23562910	GOA
involved in regulation of RNA splicing	IMP IMP: Inferred from mutant phenotype	19136466	GOA
acts upstream of or within regulation of gene expression	IMP IMP: Inferred from mutant phenotype	23562910	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nuclear speck	IDA IDA: Inferred from direct assay	19136466	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AFF2 Protein Structure

AF-4

0
300
600
900
1200
1311 a.a.

Protein Preferred Names	Protein Names
AF4/FMR2 family member 2	protein FMR-2

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, X-Linked 109	Fraxe Syndrome Fragile Xe Syndrome Mental Retardation, X-Linked, Fraxe Type XLID109 Mrx109 Mental Retardation, X-Linked, Associated With Fragile Site Fraxe Fraxe Mental Retardation Syndrome X-Linked Intellectual Developmental Disorder 109 Fraxe Intellectual Disability Fraxe Mental Retardation, X-Linked 109 Fragile Site On Chromosome Xq28 Fragile Site, Folic Acid Type X-Linked Intellectual Disability Associated With Fragile Site Fraxe Fraxe Intellectual Deficit Intellectual Disability Associated With Fragile Site Fraxe
Epidemic Typhus	Typhus Typhus Fever Epidemic Louse-Borne Typhus Fever Due To Rickettsia Prowazekii Murine Typhus Classical Typhus Endemic Flea-Borne Typhus Endemic Typhus Fever Epidemic Louse-Borne Typhus Famine Fever Flea-Borne Typhus Jail Fever Louse-Borne Typhus Mexican Typhus Shop Typhus Urban Typhus Brill-Zinsser Disease Endemic Typhus Sylvatic Typhus Epidemic Typhus European Typhus Exanthematic Typhus Fever Exanthematous Typhus Flea Typhus Flea-Borne Rickettsiosis Hospital Fever Louse-Borne [Epidemic] Typhus Louse-Borne Rickettsiosis Moscow Typhus Murine [Endemic] Typhus Petechial Fever Prison Fever Rat Flea Typhus Ship Fever Typhus Exanthematique Typhus, Endemic Flea-Borne Typhus, Epidemic Louse-Borne Typhus Group Rickettsial Disease Relapsing Fever Typhus Fever Nos Typhus Nos Epidemic Typhus Fever Louse-Borne Typhus Fever Classical Typhus Fever Louse-Borne Tabardillo Epidemic Typhus Fever Due To Rickettsia Prowazekii Endemic Murine Typhus Flea-Borne Typhus Fever Murine Endemic Flea Typhus Rat Typhus Typhus Due To Rickettsia Typhi Flea-Borne Tabardillo Rickettsia Typhi Rickettsiosis Mexican Fever Murine Flea-Borne Typhus Mooser Bodies Tsutsugamushi Fever Kedani Fever Mite-Borne Typhus Mite-Borne Typhus Due To Rickettsia Tsutsugamushi Scrub Typhus Tsutsugamushi Tsutsugamushi Disease Scrub Mite-Borne Typhus Sumatran Mite Fever Japanese River Fever Kedani Typhus Rickettsia Tsutsugamushi Rickettsiosis Sumatran Mite Typhus Tropical Typhus Japanese Typhus
Fragile X Syndrome	FXS Martin-Bell Syndrome Fraxa Syndrome Marker X Syndrome X-Linked Mental Retardation And Macroorchidism Fragile X Mental Retardation Syndrome Fra Syndrome Mental Retardation, X-Linked, Associated With Marxq28 X-Linked Intellectual Disability And Macroorchidism Frax Syndrome Symptomatic Form Of Fragile X Syndrome In Female Carriers Fragile-X Syndrome Fraxe Syndrome
Indian Tick Typhus
Endemic Typhus	Murine Typhus Cat Flea Rickettsiosis Fleaborne Typhus Rat-Flea Typhus Rickettsia Felis Spotted Fever Shop Typhus Toulon Typhus Urban Typhus Urban Typhus Of Malaya Flea-Borne Typhus Endemic Flea-Borne Typhus
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Brill-Zinsser Disease	Recrudescent Typhus Brill Disease Brill Zinsser Disease Brill'S Disease Latent Typhus Sporadic Typhus Typhus, Epidemic Louse-Borne Recrudescent Typhus Due To Rickettsia Prowazekii Recrudescent Typhus Fever Recrudescent Brill-Zinsser Typhus Due To Rickettsia Prowazekii Recrudescent Brill Disease Recrudescent Typhus Fever Due To Rickettsia Prowazekii
Japanese Spotted Fever	Oriental Spotted Fever Rickettsia Japonica Spotted Fever
Pediculus Humanus Corporis Infestation	Body Louse Infestation Pediculus Corporis Pediculus Humanus Infestation
Schneiderian Carcinoma	Cylindrical Cell Carcinoma
Rocky Mountain Spotted Fever	Brazillian Spotted Choix Exanthematic Typhus Of Sao Paulo Fiebre Maculosa Fiebre Manchada Sao Paulo Typhus So Paulo Fever Tick Typhus Tobia Fever Rmsf Typhus, Tick
Non-Syndromic X-Linked Intellectual Disability 72	Mrx72
Non-Syndromic X-Linked Intellectual Disability 41	Mrx41 Mrx48 X-Linked Mental Retardation 48
Spotted Fever	Spotted Fevers Spotted Fever Group Rickettsial Disease Tick-Borne Rickettsioses Tick-Borne Typhus Nos Rocky Mountain Spotted Fever Sao Paulo Fever Sao Paulo Typhus Lone Star Spotted Fever Colombian Spotted Fever American Spotted Fever Tick Typhus Due To Rickettsia Rickettsii Rocky Mountain Tick Fever Boutonneuse Fever Mediterranean Tick Fever Fièvre Boutonneuse Mediterranean Spotted Fever Tick Typhus Due To Rickettsia Conorii African Tick Typhus Indian Tick Typhus Kenya Tick Typhus North Asian Tick Fever Siberian Tick Typhus Tick Typhus Due To Rickettsia Siberica North Asian Spotted Fever Queensland Tick Typhus Queensland Fever
Flinders Island Spotted Fever	Fisf Thai Tick Typhus
Interstitial Myocarditis
Mucopolysaccharidosis, Type Ii	Hunter Syndrome Iduronate 2-Sulfatase Deficiency Mucopolysaccharidosis Ii Mps Ii Mucopolysaccharidosis Type Ii MPS2 Sulfoiduronate Sulfatase Deficiency Mucopolysaccharidosis, Mps-Ii Ids Deficiency Sids Deficiency I2s Deficiency Mucopolysaccharidosis Type 2 Mucopolysaccharidosis Type 2, Severe Form Deficiency Of Iduronate-2-Sulphatase Hunter'S Syndrome Mps Ii - Hunter Syndrome Iduronate-2-Sulfatase Deficiency Attenuated Mps Mps 2 Severe Mps Ii Mpsii Mucopolysaccharidosis Type 2, Attenuated Form Hunter Syndrome Type B Iduronate 2-Sulfatase Deficiency Type B Mps2b Mpsiib Mucopolysaccharidosis Type 2b Mucopolysaccharidosis Type Ii, Attenuated Form Mucopolysaccharidosis Type Iib Hunter Syndrome Type A Iduronate 2-Sulfatase Deficiency Type A Mps2a Mpsiia Mucopolysaccharidosis Type 2a Mucopolysaccharidosis Type Ii, Severe Form Mucopolysaccharidosis Type Iia Mucopolysaccharidosis 2 Hunters Syndrome Iduronate 2-Sulphatase Deficiency Iduronate Sulfatase Deficiency Iduronate Sulphatase Deficiency Sulfo-Iduronate Sulfatase Deficiency Sulfoiduronidate Sulfatase Deficiency Sulpho-Iduronate Sulphatase Deficiency Sulphoiduronidate Sulphatase Deficiency Mps2 - [Mucopolysaccharidosis 2]
African Tick-Bite Fever	Rickettsia Africae Spotted Fever South African Tick-Bite Fever African Tick Bite Fever
Meier-Gorlin Syndrome 2	MGORS2 Meier-Gorlin Syndrome, Type 2
Epilepsy, Idiopathic Generalized 9	Epilepsy, Idiopathic Generalized, Susceptibility To, 9 EIG9 Epilepsy, Juvenile Myoclonic 6 Idiopathic Generalized Epilepsy 9 Epilepsy, Juvenile Myoclonic, Susceptibility To, 6 Susceptibility To Idiopathic Generalized Epilepsy 9 Juvenile Myoclonic Epilepsy 6 EJM6 Susceptibility To Juvenile Myoclonic Epilepsy 6 Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 9
Partington Syndrome	X-Linked Reticulate Pigmentary Disorder PRTS Partington X-Linked Mental Retardation Syndrome Mrxs1 Mrx36 Intellectual Developmental Disorder, X-Linked, Syndromic 1 Partington Disease Pdr Partington-Mulley Syndrome Russell-Silver Syndrome, X-Linked Mental Retardation, X-Linked, Syndromic 1 Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures Mental Retardation, X-Linked 36 X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations X-Linked Russell-Silver Syndrome Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome Intellectual Disability, X-Linked, Syndromic 1 Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures Partington X-Linked Intellectual Disability Syndrome X-Linked Intellectual Deficit-Dystonia-Dysarthria X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures Familial Cutaneous Amyloidosis X-Linked Cutaneous Amyloidosis Xlpdr X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome Pigmentary Disorder, Reticulate, With Systemic Manifestations
Retinitis Pigmentosa 24	RP24 Retinitis Pigmentosa-24
Boutonneuse Fever	Mediterranean Spotted Fever African Tick Typhus Boutonneuse Disease Conor And Bruch'S Disease Kenya Fever Kenya Tick Typhus Kenyan Tick Typhus Marseilles Fever Mediterranean Tick Fever Rickettsia Conorii Spotted Fever South African Tick-Bite Fever African Tick Bite Fever
Queensland Tick Typhus	Australian Tick Typhus North Queensland Tick Typhus Rickettsia Australis Spotted Fever
Non-Syndromic X-Linked Intellectual Disability 30	Mrx30 Mrx47 X-Linked Mental Retardation 30/47 X-Linked Mental Retardation 47 Mental Retardation, X-Linked, Type 30/47
Syndromic X-Linked Intellectual Disability	X-Linked Syndromic Intellectual Disability
Premature Ovarian Failure 1	Ovarian Failure, Premature Fmr1-Related Primary Ovarian Insufficiency Fragile X-Associated Primary Ovarian Insufficiency POF1 Pofx Hypergonadotropic Ovarian Failure, X-Linked Pof Primary Ovarian Insufficiency, Fragile X-Associated Primary Ovarian Insufficiency 1 Ovarian Failure Premature Premature Ovarian Failure, X-Linked Fragile X Premature Ovarian Failure Fmr1-Related Premature Ovarian Failure Familial Premature Ovarian Failure Idiopathic Familial Premature Ovarian Failure Fxpoi X-Linked Hypergonadotropic Ovarian Failure Hypergonadotropic Ovarian Failure X-Linked Poi Premature Ovarian Failure X-Linked Primary Ovarian Insufficiency Premature Ovarian Failure-1 Ovarian Failure, Premature, Type 1 Premature Ovarian Failure, Familial Premature Menopause Primary Hypogonadism Turner Syndrome
Jacobsen Syndrome	Chromosome 11q Deletion Syndrome Partial 11q Monosomy Syndrome Jacobsen Distal 11q Deletion Syndrome JBS 11q Partial Monosomy Syndrome Chromosome 11q Deletion 11q Deletion 11q Monosomy Deletion 11q Monosomy 11q Partial Monosomy 11q 11q Deletion Disorder 11q Deletion Syndrome 11q Terminal Deletion Disorder 11q- Deletion Syndrome 11q23 Deletion Disorder Jacobsen Thrombocytopenia 11q Terminal Deletion Syndrome Del(11)(Q23.3) Del(11)(Qter) Distal Deletion 11q Distal Monosomy 11q Monosomy 11qter Telomeric Deletion 11q Paris-Trousseau Thrombocytopenia
X-Linked Hereditary Ataxia
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Kennedy Disease Sbma Spinal And Bulbar Muscular Atrophy Kennedy'S Disease X-Linked Spinal And Bulbar Muscular Atrophy SMAX1 Kd Kennedy Spinal And Bulbar Muscular Atrophy Spinobulbar Muscular Atrophy Bulbospinal Muscular Atrophy, X-Linked Bulbospinal Neuronopathy, X-Linked Recessive Xbsn Spinal And Bulbar Muscular Atrophy Of Kennedy Bulbospinal Muscular Atrophy X-Linked Bulbospinal Amyotrophy Bulbo-Spinal Atrophy, X-Linked Spinal Bulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-Linked Spinal Bulbar Muscular Atrophy X-Linked Bsma X-Linked Bulbospinal Muscular Atrophy Spinal And Bulbar Muscular Atrophy X-Linked 1 Bulbospinal Muscular Atrophy X-Linked Bulbospinal Neuronopathy X-Linked Recessive Kennedy Disease) Kennedy Syndrome Atrophy, Muscular, Spinal And Bulbar, Kennedy Type Atrophy, Muscular, Spinobulbar Bulbospinal Neuronopathy
Fragile X-Associated Tremor/Ataxia Syndrome	Fxtas Syndrome Fragile X Tremor/Ataxia Syndrome Fxtas
Syndromic Intellectual Disability
Familial Adult Myoclonic Epilepsy	Benign Adult Familial Myoclonus Epilepsy Bafme Benign Adult Familial Myoclonic Epilepsy Fame Familial Cortical Myoclonic Tremor And Epilepsy Fcmte Adcme Autosomal Dominant Cortical Myoclonus And Epilepsy Fam Epilepsy, Myoclonic, Familial Adult Epilepsy, Myoclonic, Benign Adult Familial, Type 2
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability
Developmental And Epileptic Encephalopathy 1	Epileptic Encephalopathy, Early Infantile, 1 Infantile Epileptic-Dyskinetic Encephalopathy DEE1 Eiee1 Issx1 Xmesid X-Linked Infantile Spasm Syndrome 1 X-Linked Infantile Spasm Syndrome X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome Developmental And Epileptic Encephalopathy, 1 Infantile Epileptic Dyskinetic Encephalopathy Infantile Spasm Syndrome, X-Linked 1 West Syndrome, X-Linked Ohtahara Syndrome, X-Linked Early Infantile Epileptic Encephalopathy 1 Early Infantile Epileptic Encephalopathy-1 Issx X-Linked Ohtahara Syndrome X-Linked West Syndrome Infantile Spasm Syndrome X-Linked 1 Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity Ohtahara Syndrome X-Linked West Syndrome X-Linked Encephalopathy, Epileptic, Early Infantile, Type 1
Specific Developmental Disorder
Spinocerebellar Ataxia 1	Spinocerebellar Ataxia Type 1 SCA1 Olivopontocerebellar Atrophy I Opca1 Opca4 Menzel Type Opca Schut-Haymaker Type Opca Spinocerebellar Atrophy I Opca I Olivopontocerebellar Atrophy Iv Opca Iv Cerebelloparenchymal Disorder I Cpd1 Olivopontocerebellar Atrophy 1 Cerebelloparenchymal Disorder 1 Olivopontocerebellar Atrophy 4 Spinocerebellar Atrophy 1 Type 1 Spinocerebellar Ataxia Spinocerebellar Ataxia-1 Ataxia, Spinocerebellar, Type 1
Spinocerebellar Ataxia 8	Spinocerebellar Ataxia Type 8 SCA8 Ataxia, Spinocerebellar, Type 8

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00429	AFF2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	AFF2	RGD	RGD:1565592
Macaca mulatta	AFF2	VGNC	VGNC:69773
Felis catus	AFF2	VGNC	VGNC:59668
Mus musculus	AFF2	MGD	MGI:1202294
Canis familiaris	AFF2	VGNC	VGNC:49896
Bos taurus	AFF2	VGNC	VGNC:25711