Details for: AFF3

Gene ID: 3899

Symbol: AFF3

Ensembl ID: ENSG00000144218

Description: ALF transcription elongation factor 3

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: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 7.51
    Marker Score: 39398
  • Cell Name: granule cell (CL0000120)
    Fold Change: 7
    Marker Score: 52781
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 6.81
    Marker Score: 36557
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 6.11
    Marker Score: 20502
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 5.65
    Marker Score: 12992
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 4.35
    Marker Score: 147028
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 3.88
    Marker Score: 2251
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 3.78
    Marker Score: 8305.5
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 3.76
    Marker Score: 1809
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 3.4
    Marker Score: 6548.5
  • Cell Name: small pre-B-II cell (CL0000954)
    Fold Change: 3.4
    Marker Score: 4082.5
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 3.28
    Marker Score: 15181
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 3.23
    Marker Score: 1812
  • 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: 8214
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 2.82
    Marker Score: 4728
  • Cell Name: IgG-negative class switched memory B cell (CL0002117)
    Fold Change: 2.77
    Marker Score: 2730
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.73
    Marker Score: 40837
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.71
    Marker Score: 53990
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.63
    Marker Score: 20189
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.61
    Marker Score: 10800
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.6
    Marker Score: 98927
  • 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: 3174
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 2.51
    Marker Score: 4747
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 2.47
    Marker Score: 2840
  • Cell Name: CD38-negative naive B cell (CL0002102)
    Fold Change: 2.44
    Marker Score: 5125
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 2.44
    Marker Score: 5841
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.37
    Marker Score: 87545
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 2.37
    Marker Score: 9905.5
  • 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: 9008
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 2.26
    Marker Score: 3185
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 2.16
    Marker Score: 7683
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.15
    Marker Score: 20192
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 2.1
    Marker Score: 5707
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.08
    Marker Score: 127638
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 2.04
    Marker Score: 1009
  • Cell Name: immature B cell (CL0000816)
    Fold Change: 2.01
    Marker Score: 1330
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 2.01
    Marker Score: 20715
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 2
    Marker Score: 1601
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.97
    Marker Score: 8040
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.93
    Marker Score: 1155
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.93
    Marker Score: 18295
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.91
    Marker Score: 30669
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.87
    Marker Score: 16099
  • 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: 1684
  • 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: 1511
  • 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: 1959
  • 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: 2525
  • 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: 1499
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.58
    Marker Score: 1146
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 1.54
    Marker Score: 2680
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 1.53
    Marker Score: 1599
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.52
    Marker Score: 1877
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: 1.52
    Marker Score: 1631
  • 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: 167587
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.46
    Marker Score: 5629
  • 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: 2483
  • 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: 30702
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.37
    Marker Score: 5701.5
  • 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: 1449
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.33
    Marker Score: 8644
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.32
    Marker Score: 20724
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 1.32
    Marker Score: 1924
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.32
    Marker Score: 869
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 1.3
    Marker Score: 1528
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.3
    Marker Score: 1750
  • 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: 1467
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.21
    Marker Score: 1470
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.2
    Marker Score: 1205
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.19
    Marker Score: 3535
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.17
    Marker Score: 4859
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 1.16
    Marker Score: 587
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.16
    Marker Score: 3793
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.14
    Marker Score: 4768
  • 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: 1982.5
  • 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: 1594
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 1.08
    Marker Score: 6472

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Other Information

**Key characteristics:** - It is a member of the AP-4 family of transcription factors, characterized by the presence of a conserved cysteine-rich domain. - It is a nuclear protein that is expressed in both the nucleus and cytoplasm. - It is a key regulator of gene expression, with important roles in neuronal development, survival, and differentiation. **Pathways and functions:** - AFF3 is involved in various cellular processes, including: - Embryonic hindlimb morphogenesis: It is crucial for the formation and maintenance of the neural tube and subsequent development of the central nervous system. - Nuclear body: It helps to regulate the expression of genes involved in nuclear body development and function. - Nucleoplasm: It is involved in the regulation of gene expression in the nucleoplasm. - Nucleus: It regulates the expression of genes involved in DNA repair, transcription, and translation. - Cytosol: It is involved in various cellular processes, including cell cycle regulation, apoptosis, and inflammation. - Tumor necrosis factor: It is a key regulator of the inflammatory response and is upregulated in response to tumor necrosis factor. - It also plays a role in cell adhesion, migration, and differentiation. **Clinical significance:** - Mutations in the AFF3 gene have been linked to various neurological disorders, including autism, schizophrenia, and Alzheimer's disease. - Dysregulation of AFF3 has been implicated in the pathogenesis of these disorders. - Therefore, targeting AFF3 signaling has emerged as a potential therapeutic strategy for these diseases. **Additional notes:** - The full length of the AFF3 gene is approximately 13.5 kb. - It is a highly conserved gene, with a similar sequence in humans, mice, and rats. - AFF3 is a well-studied gene with a significant impact on human health.

Genular Protein ID: 3318184585

Symbol: AFF3_HUMAN

Name: AF4/FMR2 family member 3

UniProtKB Accession Codes:

P51826 B7ZM46 B9EGL9 D3DVI6 Q53RD6 Q53S47 Q53SI6 Q53TB9 Q59F27 Q8IWJ5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 15 Ensembl 4 ExpressionAtlas 1 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 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 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 2 RNAct 1 RefSeq 8 SAM 1 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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:

Q8NAP7

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 EMBL 2 GO 1 Gene3D 1 Genevisible 1 GenomeRNAi 1 InterPro 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 1 PharmGKB 1 RefSeq 1 SAM 1

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. For the full schema, download it here.