Details for: AFF3

Gene ID: 3899

Symbol: AFF3

Ensembl ID: ENSG00000144218

Description: ALF transcription elongation factor 3

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 7.51
    Marker Score: 39,398
  • Cell Name: granule cell (CL0000120)
    Fold Change: 7
    Marker Score: 52,781
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 6.81
    Marker Score: 36,557
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 6.11
    Marker Score: 20,502
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 5.65
    Marker Score: 12,992
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 4.35
    Marker Score: 147,028
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 3.88
    Marker Score: 2,251
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 3.78
    Marker Score: 8,306
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 3.76
    Marker Score: 1,809
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 3.4
    Marker Score: 6,549
  • Cell Name: small pre-B-II cell (CL0000954)
    Fold Change: 3.4
    Marker Score: 4,083
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 3.28
    Marker Score: 15,181
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 3.23
    Marker Score: 1,812
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 3.1
    Marker Score: 983
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 2.88
    Marker Score: 8,214
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 2.82
    Marker Score: 4,728
  • Cell Name: IgG-negative class switched memory B cell (CL0002117)
    Fold Change: 2.77
    Marker Score: 2,730
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.73
    Marker Score: 40,837
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.71
    Marker Score: 53,990
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.63
    Marker Score: 20,189
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.61
    Marker Score: 10,800
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.6
    Marker Score: 98,927
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 2.6
    Marker Score: 999
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 2.59
    Marker Score: 758
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 2.55
    Marker Score: 3,174
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 2.51
    Marker Score: 4,747
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 2.47
    Marker Score: 2,840
  • Cell Name: CD38-negative naive B cell (CL0002102)
    Fold Change: 2.44
    Marker Score: 5,125
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 2.44
    Marker Score: 5,841
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.37
    Marker Score: 87,545
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 2.37
    Marker Score: 9,906
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 2.36
    Marker Score: 990
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.33
    Marker Score: 9,008
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 2.26
    Marker Score: 3,185
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 2.16
    Marker Score: 7,683
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.15
    Marker Score: 20,192
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 2.1
    Marker Score: 5,707
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.08
    Marker Score: 127,638
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 2.04
    Marker Score: 1,009
  • Cell Name: immature B cell (CL0000816)
    Fold Change: 2.01
    Marker Score: 1,330
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 2.01
    Marker Score: 20,715
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 2
    Marker Score: 1,601
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.97
    Marker Score: 8,040
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.93
    Marker Score: 1,155
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.93
    Marker Score: 18,295
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.91
    Marker Score: 30,669
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.87
    Marker Score: 16,099
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 1.87
    Marker Score: 662
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.83
    Marker Score: 499
  • Cell Name: centroblast (CL0009112)
    Fold Change: 1.79
    Marker Score: 882
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.77
    Marker Score: 1,684
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 1.73
    Marker Score: 546
  • Cell Name: naive B cell (CL0000788)
    Fold Change: 1.69
    Marker Score: 1,511
  • Cell Name: pre-B-I cell (CL0000956)
    Fold Change: 1.69
    Marker Score: 432
  • Cell Name: late pro-B cell (CL0002048)
    Fold Change: 1.66
    Marker Score: 1,959
  • Cell Name: IgG memory B cell (CL0000979)
    Fold Change: 1.65
    Marker Score: 995
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.64
    Marker Score: 2,525
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 1.62
    Marker Score: 493
  • Cell Name: B-1b B cell (CL0000821)
    Fold Change: 1.6
    Marker Score: 369
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: 1.59
    Marker Score: 1,499
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.58
    Marker Score: 1,146
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 1.54
    Marker Score: 2,680
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 1.53
    Marker Score: 1,599
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.52
    Marker Score: 1,877
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: 1.52
    Marker Score: 1,631
  • Cell Name: NKp44-positive group 3 innate lymphoid cell, human (CL0001079)
    Fold Change: 1.5
    Marker Score: 339
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167,587
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.46
    Marker Score: 5,629
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 1.45
    Marker Score: 383
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.43
    Marker Score: 835
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.4
    Marker Score: 2,483
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.4
    Marker Score: 781
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.37
    Marker Score: 30,702
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.37
    Marker Score: 5,702
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 1.36
    Marker Score: 794
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 1.34
    Marker Score: 915
  • Cell Name: follicular B cell (CL0000843)
    Fold Change: 1.34
    Marker Score: 1,449
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.33
    Marker Score: 8,644
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.32
    Marker Score: 20,724
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 1.32
    Marker Score: 1,924
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.32
    Marker Score: 869
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 1.3
    Marker Score: 1,528
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.3
    Marker Score: 1,750
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: 1.27
    Marker Score: 743
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.26
    Marker Score: 321
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.24
    Marker Score: 837
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 1.22
    Marker Score: 663
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 1.22
    Marker Score: 1,467
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.21
    Marker Score: 1,470
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.2
    Marker Score: 1,205
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.19
    Marker Score: 3,535
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.17
    Marker Score: 4,859
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 1.16
    Marker Score: 587
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.16
    Marker Score: 3,793
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.14
    Marker Score: 4,768
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.14
    Marker Score: 683
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.13
    Marker Score: 1,983
  • Cell Name: memory B cell (CL0000787)
    Fold Change: 1.12
    Marker Score: 850
  • Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
    Fold Change: 1.1
    Marker Score: 1,594
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 1.08
    Marker Score: 6,472

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** AFF3 is a transcriptional regulator that belongs to the AF4/FMR2 family, which is characterized by its ability to interact with RNA polymerase II and facilitate transcriptional elongation. AFF3 is composed of three distinct domains: an RNA-binding domain, a helicase domain, and a protein-protein interaction domain. These domains enable AFF3 to regulate transcriptional elongation, interact with other transcription factors, and modulate gene expression in response to various cellular signals. **Pathways and Functions:** AFF3 is involved in several signaling pathways that regulate gene expression and transcriptional elongation, including: 1. **Super elongation complex (SEC)**: AFF3 interacts with the SEC, a complex that regulates transcriptional elongation and chromatin remodeling. 2. **DNA-binding transcription factor activity**: AFF3 binds to double-stranded DNA and regulates transcription factor activity, influencing gene expression in response to cellular signals. 3. **Regulation of DNA-templated transcription**: AFF3 modulates transcriptional elongation and chromatin remodeling, ensuring accurate transcription of DNA-templated genes. 4. **Response to tumor necrosis factor (TNF)**: AFF3 is involved in the regulation of TNF-induced gene expression, which plays a crucial role in immune response and inflammation. **Clinical Significance:** AFF3 has been implicated in various immune-mediated disorders, including: 1. **Autoimmune diseases**: AFF3 dysregulation has been linked to autoimmune diseases, such as rheumatoid arthritis and multiple sclerosis, where aberrant gene expression and transcriptional elongation contribute to disease pathogenesis. 2. **Cancer**: AFF3 expression is often altered in cancer cells, where it can promote tumor growth and metastasis by regulating transcriptional elongation and chromatin remodeling. 3. **Neurological disorders**: AFF3 dysregulation has been implicated in neurological disorders, such as Parkinson's disease and Alzheimer's disease, where it can contribute to neuronal dysfunction and degeneration. In conclusion, AFF3 is a multifunctional protein that plays a critical role in regulating gene expression and transcriptional elongation. Its dysregulation has been implicated in various immune-mediated disorders, including autoimmune diseases, cancer, and neurological disorders. Further research is needed to elucidate the molecular mechanisms underlying AFF3's role in these diseases and to explore its potential as a therapeutic target.

Genular Protein ID: 3318184585

Symbol: AFF3_HUMAN

Name: AF4/FMR2 family member 3

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8555498

Title: LAF-4 encodes a lymphoid nuclear protein with transactivation potential that is homologous to AF-4, the gene fused to MLL in t(4;11) leukemias.

PubMed ID: 8555498

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.m800588-mcp200

PubMed ID: 28397838

Title: Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.

PubMed ID: 28397838

DOI: 10.1038/mp.2017.60

PubMed ID: 31388108

Title: De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation.

PubMed ID: 31388108

DOI: 10.1038/s10038-019-0650-0

PubMed ID: 33961779

Title: Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

PubMed ID: 33961779

DOI: 10.1016/j.ajhg.2021.04.001

Sequence Information:

  • Length: 1226
  • Mass: 133503
  • Checksum: BD2D90358609E156
  • Sequence:
  • MDSFDLALLQ EWDLESLCVY EPDRNALRRK ERERRNQETQ QDDGTFNSSY SLFSEPYKTN 
    KGDELSNRIQ NTLGNYDEMK DFLTDRSNQS HLVGVPKPGV PQTPVNKIDE HFVADSRAQN 
    QPSSICSTTT STPAAVPVQQ SKRGTMGWQK AGHPPSDGQQ RATQQGSLRT LLGDGVGRQQ 
    PRAKQVCNVE VGLQTQERPP AMAAKHSSSG HCVQNFPPSL ASKPSLVQQK PTAYVRPMDG 
    QDQAPDESPK LKSSSETSVH CTSYRGVPAS KPEPARAKAK LSKFSIPKQG EESRSGETNS 
    CVEEIIREMT WLPPLSAIQA PGKVEPTKFP FPNKDSQLVS SGHNNPKKGD AEPESPDNGT 
    SNTSMLEDDL KLSSDEEENE QQAAQRTALR ALSDSAVVQQ PNCRTSVPSS KGSSSSSSSG 
    SSSSSSDSES SSGSDSETES SSSESEGSKP PHFSSPEAEP ASSNKWQLDK WLNKVNPHKP 
    PILIQNESHG SESNQYYNPV KEDVQDCGKV PDVCQPSLRE KEIKSTCKEE QRPRTANKAP 
    GSKGVKQKSP PAAVAVAVSA AAPPPAVPCA PAENAPAPAR RSAGKKPTRR TERTSAGDGA 
    NCHRPEEPAA ADALGTSVVV PPEPTKTRPC GNNRASHRKE LRSSVTCEKR RTRGLSRIVP 
    KSKEFIETES SSSSSSSDSD LESEQEEYPL SKAQTVAASA SSGNDQRLKE AAANGGSGPR 
    APVGSINART TSDIAKELEE QFYTLVPFGR NELLSPLKDS DEIRSLWVKI DLTLLSRIPE 
    HLPQEPGVLS APATKDSESA PPSHTSDTPA EKALPKSKRK RKCDNEDDYR EIKKSQGEKD 
    SSSRLATSTS NTLSANHCNM NINSVAIPIN KNEKMLRSPI SPLSDASKHK YTSEDLTSSS 
    RPNGNSLFTS ASSSKKPKAD SQLQPHGGDL TKAAHNNSEN IPLHKSRPQT KPWSPGSNGH 
    RDCKRQKLVF DDMPRSADYF MQEAKRMKHK ADAMVEKFGK ALNYAEAALS FIECGNAMEQ 
    GPMESKSPYT MYSETVELIR YAMRLKTHSG PNATPEDKQL AALCYRCLAL LYWRMFRLKR 
    DHAVKYSKAL IDYFKNSSKA AQAPSPWGAS GKSTGTPSPM SPNPSPASSV GSQGSLSNAS 
    ALSPSTIVSI PQRIHQMAAN HVSITNSILH SYDYWEMADN LAKENREFFN DLDLLMGPVT 
    LHSSMEHLVQ YSQQGLHWLR NSAHLS

Genular Protein ID: 3301587497

Symbol: Q8NAP7_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

  • Length: 781
  • Mass: 84197
  • Checksum: 4D9EA69FB89D0C01
  • Sequence:
  • MDSFDLALLQ EWDLESLWGE DILNQRNDSL VVEFQSSASR CRSVYEPDRN ALRRKERERR 
    NQETQQDDGT FNSSYSLFSE PYKTNKGDEL SNRIQNTLGN YDEMKDFLTD RSNQSHLVGV 
    PKPGVPQTPV NKIDEHFVAD SRAQNQPSSI CSTTTSTPAA VPVQQSKRGT MGWQKAGHPP 
    SDGQQRATQQ GSLRTLLGDG VGRQQPRAKQ VCNVEVGLQT QERPPAMAAK HSSSGHCVQN 
    FPPSLASKPS LVQQKPTAYV RPMDGQDQAP DESPKLKSSS ETSVHCTSYR GVPASKPEPA 
    RAKAKLSKFS IPKQGEESRS GETNSCVEEI IREMTWLPPL SAIQAPGKVE PTKFPFPNKD 
    SQLVSSGHNN PKKGDAEPES PDNGTSNTSM LEDDLKLSSD EEENEQQAAQ RTALRALSDS 
    AVVQQPNCRT SVPSSKGSSS SSSSGSSSSS SDSESSSGSD SETESSSSES EGSKPPHFSS 
    PEAEPASSNK WQLDKWLNKV NPHKPPILIQ NESHGSESNQ YYNPVKEDVQ DCGKVPDVCQ 
    PSLREKEIKS TCKEEQRPRT ANKAPGSKGV KQKSPPAAVA VAVSAAAPPP AVPCAPAENA 
    PAPARRSAGK KPTRRTERTS AGDGANCHRP EEPAAADALG TSVVVPPEPT KTRPCGNNRA 
    SHRKELRSSV TCEKRRTRGL SRIVPKSKEF IETESSSSSS SSDSDLESEQ EEYPLSKAQT 
    VAASASSGND QRLKEAAANG GSGPRAPVGS INARTTSDIA KELEEQFYTL VPLAGTNFSP 
    L

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.