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Gene : AFF1 Homo sapiens

Name  ? AF4/FMR2 family member 1 Cytological Location  4q21.3-q22.1
Brief Description  AF4/FMR2 family member 1
Description  This gene encodes a member of the AF4/ lymphoid nuclear protein related to the Fragile X E syndrome (FRAXE) family of proteins, which have been implicated in human childhood lymphoblastic leukemia, fragile chromosome X intellectual disability, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein domain, and a C-terminal homology domain. The protein functions as a regulator of RNA polymerase II-mediated transcription through elongation and chromatin remodeling functions. Through RNA interference screens, this gene has been shown to promote the expression of CD133, a plasma membrane glycoprotein required for leukemia cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]
  • synonyms:
  • HGNC:7135,
  • OTTHUMG00000130603,
  • AF4/FMR2 family, member 1,
  • AF4,
  • AF-4,
  • NM_005935,
  • PBM1,
  • uc003hqj.5,
  • AF4,
  • PBM1,
  • L22179,
  • MLLT2,
  • pre-B-cell monocytic leukemia partner 1,
  • MLLT2,
  • myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2,
  • AFF1
  • identifiers:
  • 4299,
  • ENSG00000172493,
  • AFF1

Genome feature

Region: gene ? Length: 206449  
Location: 4:86934606-87141054 Cyto location: 4q21.3-q22.1

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



0 Pathways

3753 SN Ps

5 Cross References

16 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results