Details for: AFF2

Gene ID: 2334

Symbol: AFF2

Ensembl ID: ENSG00000155966

Description: ALF transcription elongation factor 2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.28
    Marker Score: 17510
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 2.23
    Marker Score: 857.5
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.94
    Marker Score: 71744
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.89
    Marker Score: 7831
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.82
    Marker Score: 27214.5
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.71
    Marker Score: 7910
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.61
    Marker Score: 1170
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.6
    Marker Score: 60624
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.57
    Marker Score: 14907
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 1.53
    Marker Score: 737
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.52
    Marker Score: 1516
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 169509
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.4
    Marker Score: 2857
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.38
    Marker Score: 27480.5
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.38
    Marker Score: 773
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.35
    Marker Score: 2564
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.29
    Marker Score: 5244
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.26
    Marker Score: 855
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.26
    Marker Score: 4854
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.21
    Marker Score: 74618
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.17
    Marker Score: 486
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.16
    Marker Score: 9974
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7680
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4814
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 1.12
    Marker Score: 2193
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.09
    Marker Score: 502
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.02
    Marker Score: 615
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71825
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48050
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.99
    Marker Score: 1367.5
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 508
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 461
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5330
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 373
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 324
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.88
    Marker Score: 13842
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5288
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.85
    Marker Score: 496
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.85
    Marker Score: 1308
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.79
    Marker Score: 602.5
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1269
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 708
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 396
  • Cell Name: centroblast (CL0009112)
    Fold Change: 0.76
    Marker Score: 374
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.75
    Marker Score: 2223
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 461
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.72
    Marker Score: 6761
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.7
    Marker Score: 1641
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.67
    Marker Score: 213
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.63
    Marker Score: 299
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.59
    Marker Score: 3528
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.57
    Marker Score: 257
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.56
    Marker Score: 233
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 173
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.55
    Marker Score: 18444
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.51
    Marker Score: 485
  • Cell Name: meningeal macrophage (CL0000879)
    Fold Change: 0.5
    Marker Score: 141
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.44
    Marker Score: 131
  • Cell Name: granule cell (CL0000120)
    Fold Change: 0.42
    Marker Score: 3193
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.41
    Marker Score: 441
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.41
    Marker Score: 1692
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.4
    Marker Score: 176
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.39
    Marker Score: 195
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.39
    Marker Score: 121
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.38
    Marker Score: 244
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.36
    Marker Score: 94
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 0.34
    Marker Score: 149
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.34
    Marker Score: 194
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.34
    Marker Score: 88
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.32
    Marker Score: 4199
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 0.31
    Marker Score: 115
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.3
    Marker Score: 148
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.28
    Marker Score: 98
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.27
    Marker Score: 136
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.26
    Marker Score: 295
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.26
    Marker Score: 907
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 0.24
    Marker Score: 131
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.24
    Marker Score: 64
  • Cell Name: S cone cell (CL0003050)
    Fold Change: 0.24
    Marker Score: 71
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.24
    Marker Score: 177
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.23
    Marker Score: 78
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.23
    Marker Score: 113
  • Cell Name: centrocyte (CL0009111)
    Fold Change: 0.23
    Marker Score: 55
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.23
    Marker Score: 67
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.23
    Marker Score: 132
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.23
    Marker Score: 112
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.22
    Marker Score: 128
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 74
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.22
    Marker Score: 208
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.21
    Marker Score: 83
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.21
    Marker Score: 140
  • Cell Name: germinal center B cell (CL0000844)
    Fold Change: 0.21
    Marker Score: 128
  • Cell Name: alpha-beta T cell (CL0000789)
    Fold Change: 0.21
    Marker Score: 159
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.21
    Marker Score: 257

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Other Information

**Key characteristics:** - It is a nuclear speck protein with a molecular weight of approximately 120 kDa. - It is a key component of the super elongation complex, a large multi-protein complex involved in mRNA processing. - It is highly expressed in the developing brain and is also expressed in the adult brain. - It is a key regulator of gene expression, controlling the expression of numerous genes involved in brain development, function, and disease. **Pathways and functions:** - AFF2 is involved in several critical pathways that contribute to brain development, including: - Neurogenesis: AFF2 is essential for the survival and differentiation of GABAergic interneurons, a type of neuron found in the brain. - Apoptosis: AFF2 is upregulated in neurons undergoing apoptosis, a process where cells die. - Neuroprotection: AFF2 protects neurons from apoptosis by binding to DNA damage response proteins and regulating their expression. - Learning and memory: AFF2 is crucial for the formation and consolidation of memories. - It also plays a role in various neurodegenerative diseases, such as Alzheimer's disease and autism spectrum disorder. **Clinical significance:** - Mutations in the AFF2 gene have been linked to several neurological disorders, including autism, schizophrenia, and epilepsy. - Understanding the function of AFF2 has important implications for the development of novel therapeutic strategies for these disorders. - Targeting AFF2 signaling has been explored as a potential therapeutic approach to treat these conditions. **Additional notes:** - AFF2 is a highly conserved protein with homologs in other species. - It is a multi-domain protein that can interact with various proteins involved in mRNA processing and transcription. - It is a highly regulated protein that is controlled by various factors, including growth factors, hormones, and neurotransmitters.

Genular Protein ID: 2076862996

Symbol: AFF2_HUMAN

Name: Protein FMR-2

UniProtKB Accession Codes:

P51816 A2RTY4 B4DXD5 B7WNQ1 B7ZLD6 B7ZLD9 O43786 O60215 P78407 Q13521 Q14323 Q7Z2F7 Q7Z400 Q9UNA5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 4 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 58 EPD 1 Ensembl 5 GO 10 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 7 RNAct 1 RefSeq 6 SAM 1 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

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. For the full schema, download it here.