AFF3 - ALF transcription elongation factor 3 Gene

Also Known as KINS; LAF4; MLLT2-like

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3899

About AFF3

Cytogenetic location: 2q11.2 Genomic coordinates (GRCh38): 2:99,545,419-100,142,590 (from NCBI)

This gene has 28 transcripts (splice variants), 192 orthologues, 3 paralogues and is associated with 89 phenotypes. Broad expression in prostate (RPKM 4.8), lymph node (RPKM 3.7) and 23 other tissues.

Summary

This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 gene family of nuclear transcription factors that may function in lymphoid development and oncogenesis. In some ALL patients, this gene has been found fused to the gene for MLL. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]

AFF3 Products (3)

mRNA Protein Name
NM_001025108.2 NP_001020279.1 AF4/FMR2 family member 3 isoform 2
NM_001386135.1 NP_001373064.1 AF4/FMR2 family member 3 isoform 1
NM_002285.3 NP_002276.2 AF4/FMR2 family member 3 isoform 1

Gene Ontology

  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence References Source
involved in embryonic hindlimb morphogenesis IMP
IMP: Inferred from mutant phenotype
18616733 GOA
involved in response to tumor necrosis factor IMP
IMP: Inferred from mutant phenotype
20444755 GOA
Cellular Component GO Annotation Evidence References Source
located in nucleus IDA
IDA: Inferred from direct assay
8555498 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

AFF3 Protein Structure

AF-4

AF-4: AF-4 proto-oncoprotein (20 - 166)

AF-4

AF-4: AF-4 proto-oncoprotein (164 - 1224)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1226 a.a.
Protein Preferred Names Protein Names

AF4/FMR2 family member 3

  • MLLT2-related protein

Related Diseases

Diseases Alias
Kinsship Syndrome

  • KINS

  • Mesomelic Dysplasia, Steichen-Gersdorf Type

  • Mesomelic Dysplasia, Aff3-Related

  • Aff3-Related Mesomelic Dysplasia

  • Steichen-Gersdorf Type Mesomelic Dysplasia
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
Leukemia, Acute Lymphoblastic

  • Acute Lymphoblastic Leukemia

  • ALL

  • Acute Lymphocytic Leukemia

  • Leukemia, Acute Lymphocytic, Susceptibility To, 1

  • Acute Lymphoblastic Leukaemia

  • Precursor Lymphoblastic Lymphoma/Leukemia

  • Precursor Lymphoid Neoplasm

  • Leukemia, Acute Lymphoblastic, Susceptibility To

  • B-Cell Acute Lymphoblastic Leukemia

  • Leukemia, Acute Lymphocytic 1

  • Acute Lymphocytic Leukaemia

  • Acute Lymphoblastic Leukemia/Lymphoma

  • All1

  • Childhood Acute Lymphoblastic Leukemia

  • Leukemia Acute Lymphoblastic 1

  • Leukemia Acute Lymphoblastic B-Hyperdiploid

  • Leukemia Acute Lymphocytic

  • Leukemia Acute Lymphocytic 1

  • Leukemia B-Cell Acute Lymphoblastic

  • Leukemia T-Cell Acute Lymphoblastic

  • Leukemia, Acute Lymphoblastic, 3

  • ALL3

  • Lymphoblastic Leukemia Acute

  • Leukemia, Acute, Lymphoblastic

  • Precursor Cell Lymphoblastic Leukemia Lymphoma

  • Leukemia, Lymphocytic, Acute, L1

  • Leukemia, Acute Lymphoblastic, Susceptibility To, 3
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
Follicular Lymphoma

  • Lymphoma, Follicular

  • Lymphoma Follicular

  • Brill-Symmers' Disease

  • Large Cell Follicular Non-Hodgkin Lymphoma

  • Diffuse Follicle Centre Lymphoma

  • Diffuse Follicular Lymphoma Nos

  • Follicular Nodular Non-Hodgkin Lymphoma, Unspecified

  • Follicular Large Cell Cleaved Or Noncleaved Lymphoma

  • Large Cell Follicular Noncleaved Lymphoma

  • Follicular Lymphoma With Or Without Diffuse Areas

  • Histiocytic Follicular Lymphoma

  • Histiocytic Nodular Lymphoma

  • Histiocytic Nodular Malignant Lymphoma

  • Large Cell Follicular Lymphoma

  • Large Cell Noncleaved Follicular Lymphoma

  • Large Cell Noncleaved Follicular Malignant Lymphoma

  • Nodular Reticulum Cell Sarcoma

  • Noncleaved Follicular Lymphoma
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 (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS00430 AFF3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22096 Aff3 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28616 Aff3 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus AFF3 RGD RGD:1308527
Felis catus AFF3 VGNC VGNC:68000
Macaca mulatta AFF3 VGNC VGNC:97731
Canis familiaris AFF3 VGNC VGNC:37687
Mus musculus AFF3 MGD MGI:106927
Bos taurus AFF3 VGNC VGNC:59202
Others AFF3 NCBI