Details for: AFF2

Gene ID: 2334

Symbol: AFF2

Ensembl ID: ENSG00000155966

Description: ALF transcription elongation factor 2

Associated with

Cells (max top 100)

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

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 80.7827
    Cell Significance Index: -20.4900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 43.2731
    Cell Significance Index: -17.5800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 16.4969
    Cell Significance Index: -20.3400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 4.4747
    Cell Significance Index: 97.9800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 3.3942
    Cell Significance Index: 96.8600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 2.7928
    Cell Significance Index: 47.8600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.8647
    Cell Significance Index: 104.6400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.8323
    Cell Significance Index: 58.6900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 1.6839
    Cell Significance Index: 40.3900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.5591
    Cell Significance Index: 95.8300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.3137
    Cell Significance Index: 82.8000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.1214
    Cell Significance Index: 224.9500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.0513
    Cell Significance Index: 377.0700
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.8312
    Cell Significance Index: 10.3100
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 0.6377
    Cell Significance Index: 8.2700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.6249
    Cell Significance Index: 432.2000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.4263
    Cell Significance Index: 50.2700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.3780
    Cell Significance Index: 25.4200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2389
    Cell Significance Index: 45.4600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1267
    Cell Significance Index: 12.5300
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 0.1078
    Cell Significance Index: 0.6400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0914
    Cell Significance Index: 1.0900
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.0738
    Cell Significance Index: 1.4600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0463
    Cell Significance Index: 2.7800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0083
    Cell Significance Index: 3.6800
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0028
    Cell Significance Index: -0.0600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0050
    Cell Significance Index: -9.4500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0076
    Cell Significance Index: -14.0100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0107
    Cell Significance Index: -16.5000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: -0.0114
    Cell Significance Index: -10.2800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.0134
    Cell Significance Index: -1.4600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0135
    Cell Significance Index: -18.2900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0137
    Cell Significance Index: -7.4900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0150
    Cell Significance Index: -9.5200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0192
    Cell Significance Index: -3.8200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0209
    Cell Significance Index: -15.4800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0280
    Cell Significance Index: -20.5500
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0281
    Cell Significance Index: -1.2200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0285
    Cell Significance Index: -21.5900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0335
    Cell Significance Index: -18.8800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0343
    Cell Significance Index: -21.4100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0399
    Cell Significance Index: -18.0900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0433
    Cell Significance Index: -0.6200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0625
    Cell Significance Index: -1.9900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0682
    Cell Significance Index: -1.3700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0730
    Cell Significance Index: -20.9900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0741
    Cell Significance Index: -9.5000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0755
    Cell Significance Index: -13.6100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0792
    Cell Significance Index: -11.5100
  • Cell Name: intratelencephalic-projecting glutamatergic cortical neuron (CL4023008)
    Fold Change: -0.0846
    Cell Significance Index: -0.8700
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0870
    Cell Significance Index: -1.8800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0933
    Cell Significance Index: -19.6500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.0939
    Cell Significance Index: -15.2700
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.1099
    Cell Significance Index: -0.6900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1107
    Cell Significance Index: -6.7900
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.1109
    Cell Significance Index: -1.4000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1153
    Cell Significance Index: -4.0500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1215
    Cell Significance Index: -2.5200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1217
    Cell Significance Index: -14.9600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1278
    Cell Significance Index: -21.8300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1394
    Cell Significance Index: -19.1400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1463
    Cell Significance Index: -17.0500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1577
    Cell Significance Index: -4.5500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.1683
    Cell Significance Index: -11.6400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1700
    Cell Significance Index: -4.7500
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.1768
    Cell Significance Index: -3.6900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1809
    Cell Significance Index: -20.7300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1820
    Cell Significance Index: -12.8700
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.1829
    Cell Significance Index: -1.1900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.1962
    Cell Significance Index: -8.9000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1981
    Cell Significance Index: -20.6300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1982
    Cell Significance Index: -6.4900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2044
    Cell Significance Index: -5.1100
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.2129
    Cell Significance Index: -2.3200
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.2161
    Cell Significance Index: -4.6200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.2192
    Cell Significance Index: -22.4000
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.2331
    Cell Significance Index: -2.2100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2553
    Cell Significance Index: -19.5900
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.2649
    Cell Significance Index: -2.5200
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.2726
    Cell Significance Index: -3.2600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.2726
    Cell Significance Index: -5.9100
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron (CL4030065)
    Fold Change: -0.3005
    Cell Significance Index: -3.1400
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.3103
    Cell Significance Index: -3.6200
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.3272
    Cell Significance Index: -6.4400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3279
    Cell Significance Index: -17.0800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3407
    Cell Significance Index: -17.8900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.3475
    Cell Significance Index: -22.4200
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.3645
    Cell Significance Index: -8.8300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3705
    Cell Significance Index: -12.9800
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: -0.3869
    Cell Significance Index: -4.8300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.3987
    Cell Significance Index: -18.5900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.4094
    Cell Significance Index: -8.5700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.4307
    Cell Significance Index: -11.5200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.4440
    Cell Significance Index: -19.6400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.4465
    Cell Significance Index: -20.9900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.4528
    Cell Significance Index: -11.6400
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.4741
    Cell Significance Index: -4.0300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.4903
    Cell Significance Index: -24.7800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.5026
    Cell Significance Index: -26.1100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.5028
    Cell Significance Index: -19.0400

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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:** AFF2 is a transcription elongation factor that belongs to the super elongation complex (SEC), a multi-subunit complex responsible for facilitating transcription elongation. AFF2 is characterized by its ability to bind to specific DNA sequences, known as G-quadruplex motifs, which are commonly found in gene regulatory regions. This interaction enables AFF2 to regulate gene expression by modulating transcription elongation and RNA splicing. Additionally, AFF2 has been shown to interact with various transcription factors and co-regulators, further highlighting its role in complex gene regulatory networks. **Pathways and Functions:** AFF2 is involved in several critical pathways, including: 1. **Brain development:** AFF2 plays a crucial role in the development of the brain, particularly in the formation of neural circuits and the regulation of gene expression in neurons. 2. **G-quadruplex RNA binding:** AFF2 binds to G-quadruplex motifs in DNA, which are involved in gene regulation and transcription elongation. 3. **Learning and memory:** AFF2 is involved in the regulation of gene expression in neurons, which is critical for learning and memory processes. 4. **RNA processing:** AFF2 regulates RNA splicing and transcription elongation, ensuring the accurate and efficient expression of genes. **Functions:** AFF2's primary function is to facilitate transcription elongation by interacting with the super elongation complex. This interaction enables AFF2 to: 1. **Regulate gene expression:** AFF2 modulates gene expression by regulating transcription elongation and RNA splicing. 2. **Maintain genome stability:** AFF2 helps maintain genome stability by preventing the aberrant expression of genes that could lead to genetic disorders. 3. **Influence neural circuit development:** AFF2's role in brain development and neural circuit formation highlights its importance in regulating gene expression in neurons. **Clinical Significance:** Dysregulation of AFF2 has been implicated in various neurological disorders, including: 1. **Autism Spectrum Disorder (ASD):** AFF2 has been shown to be associated with ASD, suggesting that abnormalities in AFF2 function may contribute to the development of this disorder. 2. **Schizophrenia:** AFF2 has been implicated in schizophrenia, with studies suggesting that alterations in AFF2 expression may contribute to the development of this disorder. 3. **Neurodegenerative diseases:** AFF2's role in regulating gene expression and transcription elongation makes it a potential target for the development of therapies for neurodegenerative diseases, such as Alzheimer's and Parkinson's. In conclusion, AFF2 is a complex transcription elongation factor that plays a critical role in regulating gene expression and transcription elongation in various cell types. Its dysregulation has been implicated in various neurological disorders, highlighting the importance of further research into the mechanisms underlying AFF2 function and its potential as a therapeutic target.

Genular Protein ID: 2076862996

Symbol: AFF2_HUMAN

Name: Protein FMR-2

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8673085

Title: Identification of the gene FMR2, associated with FRAXE mental retardation.

PubMed ID: 8673085

DOI: 10.1038/ng0596-105

PubMed ID: 8673086

Title: Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island.

PubMed ID: 8673086

DOI: 10.1038/ng0596-109

PubMed ID: 8824884

Title: A candidate gene for mild mental handicap at the FRAXE fragile site.

PubMed ID: 8824884

DOI: 10.1093/hmg/5.2.275

PubMed ID: 9299237

Title: Gene structure and subcellular localization of FMR2, a member of a new family of putative transcription activators.

PubMed ID: 9299237

DOI: 10.1006/geno.1997.4867

PubMed ID: 9467002

Title: Expression of the murine homologue of FMR2 in mouse brain and during development.

PubMed ID: 9467002

DOI: 10.1093/hmg/7.3.441

PubMed ID: 12777533

Title: Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees.

PubMed ID: 12777533

DOI: 10.1093/molbev/msg134

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

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: 19136466

Title: FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure.

PubMed ID: 19136466

DOI: 10.1093/nar/gkn1058

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 21739600

Title: Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.

PubMed ID: 21739600

DOI: 10.1002/ajmg.a.34122

Sequence Information:

  • Length: 1311
  • Mass: 144771
  • Checksum: B5310BC074F893CB
  • Sequence:
  • MDLFDFFRDW DLEQQCHYEQ DRSALKKREW ERRNQEVQQE DDLFSSGFDL FGEPYKVAEY 
    TNKGDALANR VQNTLGNYDE MKNLLTNHSN QNHLVGIPKN SVPQNPNNKN EPSFFPEQKN 
    RIIPPHQDNT HPSAPMPPPS VVILNSTLIH SNRKSKPEWS RDSHNPSTVL ASQASGQPNK 
    MQTLTQDQSQ AKLEDFFVYP AEQPQIGEVE ESNPSAKEDS NPNSSGEDAF KEIFQSNSPE 
    ESEFAVQAPG SPLVASSLLA PSSGLSVQNF PPGLYCKTSM GQQKPTAYVR PMDGQDQAPD 
    ISPTLKPSIE FENSFGNLSF GTLLDGKPSA ASSKTKLPKF TILQTSEVSL PSDPSCVEEI 
    LREMTHSWPT PLTSMHTAGH SEQSTFSIPG QESQHLTPGF TLQKWNDPTT RASTKSVSFK 
    SMLEDDLKLS SDEDDLEPVK TLTTQCTATE LYQAVEKAKP RNNPVNPPLA TPQPPPAVQA 
    SGGSGSSSES ESSSESDSDT ESSTTDSESN EAPRVATPEP EPPSTNKWQL DKWLNKVTSQ 
    NKSFICGQNE TPMETISLPP PIIQPMEVQM KVKTNASQVP AEPKERPLLS LIREKARPRP 
    TQKIPETKAL KHKLSTTSET VSQRTIGKKQ PKKVEKNTST DEFTWPKPNI TSSTPKEKES 
    VELHDPPRGR NKATAHKPAP RKEPRPNIPL APEKKKYRGP GKIVPKSREF IETDSSTSDS 
    NTDQEETLQI KVLPPCIISG GNTAKSKEIC GASLTLSTLM SSSGSNNNLS ISNEEPTFSP 
    IPVMQTEILS PLRDHENLKN LWVKIDLDLL SRVPGHSSLH AAPAKPDHKE TATKPKRQTA 
    VTAVEKPAPK GKRKHKPIEV AEKIPEKKQR LEEATTICLL PPCISPAPPH KPPNTRENNS 
    SRRANRRKEE KLFPPPLSPL PEDPPRRRNV SGNNGPFGQD KNIAMTGQIT STKPKRTEGK 
    FCATFKGISV NEGDTPKKAS SATITVTNTA IATATVTATA IVTTTVTATA TATATTTTTT 
    TTISTITSTI TTGLMDSSHL EMTSWAALPL LSSSSTNVRR PKLTFDDSVH NADYYMQEAK 
    KLKHKADALF EKFGKAVNYA DAALSFTECG NAMERDPLEA KSPYTMYSET VELLRYAMRL 
    KNFASPLASD GDKKLAVLCY RCLSLLYLRM FKLKKDHAMK YSRSLMEYFK QNASKVAQIP 
    SPWVSNGKNT PSPVSLNNVS PINAMGNCNN GPVTIPQRIH HMAASHVNIT SNVLRGYEHW 
    DMADKLTREN KEFFGDLDTL MGPLTQHSSM TNLVRYVRQG LCWLRIDAHL 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.