1. Gene
  2. AFF2 - ALF transcription elongation factor 2 Gene

AFF2 - ALF transcription elongation factor 2 Gene

Homo sapiens

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

Gene ID: 2334 | Gene type: protein coding

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

AFF2 Protein Structure

AF-4

AF-4: AF-4 proto-oncoprotein (18 - 1309)

  • 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

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