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AFF3 AF4/FMR2 family member 3 [ Homo sapiens (human) ]

Gene ID: 3899, updated on 12-Oct-2019

Summary

Official Symbol
AFF3provided by HGNC
Official Full Name
AF4/FMR2 family member 3provided by HGNC
Primary source
HGNC:HGNC:6473
See related
Ensembl:ENSG00000144218 MIM:601464
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LAF4; MLLT2-like
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]
Expression
Broad expression in prostate (RPKM 4.8), lymph node (RPKM 3.7) and 23 other tissues See more
Orthologs

Genomic context

See AFF3 in Genome Data Viewer
Location:
2q11.2
Exon count:
33
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (99545419..100142590, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (100162326..100759037, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985923 Neighboring gene thioredoxin domain containing 9 Neighboring gene eukaryotic translation initiation factor 5B Neighboring gene REV1 DNA directed polymerase Neighboring gene uncharacterized LOC105373504 Neighboring gene uncharacterized LOC112268421 Neighboring gene FRA2A repeat instability region Neighboring gene long intergenic non-protein coding RNA 1104 Neighboring gene LON peptidase N-terminal domain and ring finger 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
NHGRI GWA Catalog
Genome wide association study identifies a novel putative mammographic density locus at 1q12-q21.
NHGRI GWA Catalog
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
NHGRI GWA Catalog
New susceptibility loci associated with kidney disease in type 1 diabetes.
NHGRI GWA Catalog
Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.
NHGRI GWA Catalog
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
double-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
embryonic hindlimb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
response to tumor necrosis factor IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
ELL-EAF complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcription elongation factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
AF4/FMR2 family member 3
Names
MLLT2-related protein
lymphoid nuclear protein 4
lymphoid nuclear protein related to AF4
protein LAF-4

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_052835.1 RefSeqGene

    Range
    4994..602165
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001025108.2NP_001020279.1  AF4/FMR2 family member 3 isoform 2

    See identical proteins and their annotated locations for NP_001020279.1

    Status: REVIEWED

    Source sequence(s)
    AC010736, AC018690, AC073118, AC092667, AC093373, KF456685
    Consensus CDS
    CCDS33258.1
    UniProtKB/Swiss-Prot
    P51826
    UniProtKB/TrEMBL
    Q8NAP7
    Conserved Domains (1) summary
    pfam05110
    Location:481245
    AF-4; AF-4 proto-oncoprotein
  2. NM_002285.3NP_002276.2  AF4/FMR2 family member 3 isoform 1

    See identical proteins and their annotated locations for NP_002276.2

    Status: REVIEWED

    Source sequence(s)
    AC010736, AC018690, AC073118, AC092667, AC093373, KF456685
    Consensus CDS
    CCDS42723.1
    UniProtKB/Swiss-Prot
    P51826
    Related
    ENSP00000317421.4, ENST00000317233.8
    Conserved Domains (1) summary
    pfam05110
    Location:231220
    AF-4; AF-4 proto-oncoprotein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    99545419..100142590 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511171.3XP_011509473.2  AF4/FMR2 family member 3 isoform X3

    Conserved Domains (1) summary
    pfam05110
    Location:1771358
    AF-4; AF-4 proto-oncoprotein
  2. XM_024452883.1XP_024308651.1  AF4/FMR2 family member 3 isoform X1

    Conserved Domains (1) summary
    pfam05110
    Location:1771374
    AF-4; AF-4 proto-oncoprotein
  3. XM_011511170.2XP_011509472.1  AF4/FMR2 family member 3 isoform X4

    Conserved Domains (1) summary
    pfam05110
    Location:1001297
    AF-4; AF-4 proto-oncoprotein
  4. XM_011511177.3XP_011509479.1  AF4/FMR2 family member 3 isoform X6

    See identical proteins and their annotated locations for XP_011509479.1

    UniProtKB/Swiss-Prot
    P51826
    Conserved Domains (1) summary
    pfam05110
    Location:231220
    AF-4; AF-4 proto-oncoprotein
  5. XM_011511175.3XP_011509477.1  AF4/FMR2 family member 3 isoform X6

    See identical proteins and their annotated locations for XP_011509477.1

    UniProtKB/Swiss-Prot
    P51826
    Related
    ENSP00000500419.1, ENST00000672756.1
    Conserved Domains (1) summary
    pfam05110
    Location:231220
    AF-4; AF-4 proto-oncoprotein
  6. XM_011511169.3XP_011509471.2  AF4/FMR2 family member 3 isoform X2

    Conserved Domains (1) summary
    pfam05110
    Location:1771373
    AF-4; AF-4 proto-oncoprotein
  7. XM_011511176.3XP_011509478.1  AF4/FMR2 family member 3 isoform X6

    See identical proteins and their annotated locations for XP_011509478.1

    UniProtKB/Swiss-Prot
    P51826
    Conserved Domains (1) summary
    pfam05110
    Location:231220
    AF-4; AF-4 proto-oncoprotein
  8. XM_011511173.3XP_011509475.1  AF4/FMR2 family member 3 isoform X5

    See identical proteins and their annotated locations for XP_011509475.1

    UniProtKB/Swiss-Prot
    P51826
    Conserved Domains (1) summary
    pfam05110
    Location:481245
    AF-4; AF-4 proto-oncoprotein
  9. XM_005263943.4XP_005264000.2  AF4/FMR2 family member 3 isoform X6

    See identical proteins and their annotated locations for XP_005264000.2

    UniProtKB/Swiss-Prot
    P51826
    Related
    ENSP00000387207.1, ENST00000409236.6
    Conserved Domains (1) summary
    pfam05110
    Location:231220
    AF-4; AF-4 proto-oncoprotein
  10. XM_011511174.3XP_011509476.1  AF4/FMR2 family member 3 isoform X5

    See identical proteins and their annotated locations for XP_011509476.1

    UniProtKB/Swiss-Prot
    P51826
    Related
    ENSP00000386834.1, ENST00000409579.5
    Conserved Domains (1) summary
    pfam05110
    Location:481245
    AF-4; AF-4 proto-oncoprotein
  11. XM_017004085.2XP_016859574.1  AF4/FMR2 family member 3 isoform X8

  12. XM_005263945.4XP_005264002.1  AF4/FMR2 family member 3 isoform X7

    Conserved Domains (1) summary
    pfam05110
    Location:24889
    AF-4; AF-4 proto-oncoprotein
  13. XM_017004087.2XP_016859576.1  AF4/FMR2 family member 3 isoform X12

  14. XM_017004086.2XP_016859575.1  AF4/FMR2 family member 3 isoform X11

  15. XM_011511179.3XP_011509481.1  AF4/FMR2 family member 3 isoform X10

    Conserved Domains (1) summary
    pfam05110
    Location:88858
    AF-4; AF-4 proto-oncoprotein
  16. XM_011511178.3XP_011509480.1  AF4/FMR2 family member 3 isoform X9

    Conserved Domains (1) summary
    pfam05110
    Location:89859
    AF-4; AF-4 proto-oncoprotein
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