1. Gene
  2. AFF4 - ALF transcription elongation factor 4 Gene

AFF4 - ALF transcription elongation factor 4 Gene

Homo sapiens

Also known as MCEF; CHOPS; AF5Q31

Gene ID: 27125 | Gene type: protein coding

About AFF4

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:132,875,395-132,963,634 (from NCBI)

This gene has 9 transcripts (splice variants), 212 orthologues, 3 paralogues and is associated with 77 phenotypes. Ubiquitous expression in thyroid (RPKM 21.2), adrenal (RPKM 17.6) and 25 other tissues.

Summary

The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011]

AFF4 Products(1)

mRNA Protein Name
NM_014423.4 NP_055238.1 AF4/FMR2 family member 4

AFF4 Protein Structure

AF-4

AF-4: AF-4 proto-oncoprotein (2 - 1160)

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  • 1163 a.a.
Protein Preferred Names Protein Names

AF4/FMR2 family member 4

ALL1-fused gene from chromosome 5q31 protein

Related Diseases

Diseases Alias
Chops Syndrome

CHOPS

Cognitive Impairment, Coarse Facies, Heart Defects, Obesity, Pulmonary Involvement, Short Stature, And Skeletal Dysplasia

Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome

Cognitive Impairment - Coarse Facies - Heart Defects - Obesity - Pulmonary Involvement - Short Stature - Skeletal Dysplasia Syndrome

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

Cataract 11, Multiple Types

Cataract, Posterior Polar, 4

Ctpp4

Cpp4

Cataract 11 Multiple Types

CTRCT11

Cataract 11, Syndromic, Autosomal Recessive

Cataract 11 With Microphthalmia And Neurodevelopmental Abnormalities

Posterior Polar Cataract 4

Posterior Polar Cataract, 4

Cataract Posterior Polar 4

Syndromic Cataract 11

Cataract, Type 11, Multiple Types

Kbg Syndrome

KBGS

Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies

Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies

Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies

Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome

Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome

Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

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
Macaca mulatta AFF4 VGNC VGNC:69629
Rattus norvegicus AFF4 RGD RGD:1311694
Mus musculus AFF4 MGD MGI:2136171
Bos taurus AFF4 VGNC VGNC:25712
Canis familiaris AFF4 VGNC VGNC:37688
Felis catus AFF4 VGNC VGNC:59669