FEZF2_HUMAN
ID FEZF2_HUMAN Reviewed; 459 AA.
AC Q8TBJ5; A8K349; Q9BZ91; Q9NWB9;
DT 10-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 10-JUL-2007, sequence version 2.
DT 03-AUG-2022, entry version 152.
DE RecName: Full=Fez family zinc finger protein 2;
DE AltName: Full=Forebrain embryonic zinc finger-like protein 2;
DE AltName: Full=Zinc finger protein 312;
DE AltName: Full=Zinc finger protein Fez-like;
GN Name=FEZF2; Synonyms=FEZL, ZNF312; ORFNames=FKSG36;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Wang Y.-G., Gong L.;
RT "Identification of FKSG36, a novel gene located on human chromosome
RT 18p11.";
RL Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, and Embryo;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS THR-164
RP AND TRP-250.
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP VARIANT ASP-188.
RX PubMed=21220648; DOI=10.1001/archneurol.2010.351;
RA Daoud H., Valdmanis P.N., Gros-Louis F., Belzil V., Spiegelman D.,
RA Henrion E., Diallo O., Desjarlais A., Gauthier J., Camu W., Dion P.A.,
RA Rouleau G.A.;
RT "Resequencing of 29 candidate genes in patients with familial and sporadic
RT amyotrophic lateral sclerosis.";
RL Arch. Neurol. 68:587-593(2011).
CC -!- FUNCTION: Transcription repressor. Required for the specification of
CC corticospinal motor neurons and other subcerebral projection neurons.
CC May play a role in layer and neuronal subtype-specific patterning of
CC subcortical projections and axonal fasciculation. Controls the
CC development of dendritic arborization and spines of large layer V
CC pyramidal neurons. May be involved in innate immunity (By similarity).
CC {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8TBJ5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8TBJ5-2; Sequence=VSP_026734, VSP_026735;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
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DR EMBL; AF332890; AAG50287.1; -; mRNA.
DR EMBL; AK001004; BAA91464.1; -; mRNA.
DR EMBL; AK290464; BAF83153.1; -; mRNA.
DR EMBL; CH471055; EAW65404.1; -; Genomic_DNA.
DR EMBL; BC022464; AAH22464.1; -; mRNA.
DR CCDS; CCDS2897.1; -. [Q8TBJ5-1]
DR RefSeq; NP_060478.3; NM_018008.3. [Q8TBJ5-1]
DR AlphaFoldDB; Q8TBJ5; -.
DR SMR; Q8TBJ5; -.
DR BioGRID; 120394; 3.
DR IntAct; Q8TBJ5; 1.
DR STRING; 9606.ENSP00000283268; -.
DR iPTMnet; Q8TBJ5; -.
DR PhosphoSitePlus; Q8TBJ5; -.
DR BioMuta; FEZF2; -.
DR DMDM; 152032462; -.
DR EPD; Q8TBJ5; -.
DR MassIVE; Q8TBJ5; -.
DR PaxDb; Q8TBJ5; -.
DR PeptideAtlas; Q8TBJ5; -.
DR PRIDE; Q8TBJ5; -.
DR ProteomicsDB; 74020; -. [Q8TBJ5-1]
DR ProteomicsDB; 74021; -. [Q8TBJ5-2]
DR Antibodypedia; 15277; 142 antibodies from 24 providers.
DR DNASU; 55079; -.
DR Ensembl; ENST00000283268.8; ENSP00000283268.3; ENSG00000153266.13. [Q8TBJ5-1]
DR Ensembl; ENST00000475839.1; ENSP00000418804.1; ENSG00000153266.13. [Q8TBJ5-1]
DR Ensembl; ENST00000486811.5; ENSP00000418589.1; ENSG00000153266.13. [Q8TBJ5-1]
DR GeneID; 55079; -.
DR KEGG; hsa:55079; -.
DR MANE-Select; ENST00000283268.8; ENSP00000283268.3; NM_018008.4; NP_060478.3.
DR UCSC; uc003dlh.3; human. [Q8TBJ5-1]
DR CTD; 55079; -.
DR DisGeNET; 55079; -.
DR GeneCards; FEZF2; -.
DR HGNC; HGNC:13506; FEZF2.
DR HPA; ENSG00000153266; Tissue enriched (brain).
DR MIM; 607414; gene.
DR neXtProt; NX_Q8TBJ5; -.
DR OpenTargets; ENSG00000153266; -.
DR PharmGKB; PA162388420; -.
DR VEuPathDB; HostDB:ENSG00000153266; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000160100; -.
DR HOGENOM; CLU_021813_2_1_1; -.
DR InParanoid; Q8TBJ5; -.
DR OMA; GKHKNFT; -.
DR PhylomeDB; Q8TBJ5; -.
DR TreeFam; TF316780; -.
DR PathwayCommons; Q8TBJ5; -.
DR SignaLink; Q8TBJ5; -.
DR BioGRID-ORCS; 55079; 7 hits in 1090 CRISPR screens.
DR GenomeRNAi; 55079; -.
DR Pharos; Q8TBJ5; Tbio.
DR PRO; PR:Q8TBJ5; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q8TBJ5; protein.
DR Bgee; ENSG00000153266; Expressed in cortical plate and 62 other tissues.
DR ExpressionAtlas; Q8TBJ5; baseline and differential.
DR Genevisible; Q8TBJ5; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0003682; F:chromatin binding; IEA:Ensembl.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IEA:Ensembl.
DR GO; GO:0007413; P:axonal fasciculation; IEA:Ensembl.
DR GO; GO:0043697; P:cell dedifferentiation; IEA:Ensembl.
DR GO; GO:0021853; P:cerebral cortex GABAergic interneuron migration; IEA:Ensembl.
DR GO; GO:0021902; P:commitment of neuronal cell to specific neuron type in forebrain; IEA:Ensembl.
DR GO; GO:0016358; P:dendrite development; IEA:Ensembl.
DR GO; GO:0021542; P:dentate gyrus development; IEA:Ensembl.
DR GO; GO:0021797; P:forebrain anterior/posterior pattern specification; IEA:Ensembl.
DR GO; GO:0007626; P:locomotory behavior; IEA:Ensembl.
DR GO; GO:0008285; P:negative regulation of cell population proliferation; IEA:Ensembl.
DR GO; GO:0045665; P:negative regulation of neuron differentiation; IEA:Ensembl.
DR GO; GO:0048664; P:neuron fate determination; IEA:Ensembl.
DR GO; GO:0045666; P:positive regulation of neuron differentiation; IEA:Ensembl.
DR GO; GO:1902667; P:regulation of axon guidance; IEA:Ensembl.
DR GO; GO:0010468; P:regulation of gene expression; IBA:GO_Central.
DR GO; GO:0050767; P:regulation of neurogenesis; IEA:Ensembl.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF00096; zf-C2H2; 5.
DR SMART; SM00355; ZnF_C2H2; 6.
DR SUPFAM; SSF57667; SSF57667; 3.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 6.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 6.
PE 2: Evidence at transcript level;
KW Alternative splicing; Developmental protein; Differentiation; DNA-binding;
KW Metal-binding; Neurogenesis; Nucleus; Reference proteome; Repeat;
KW Repressor; Transcription; Transcription regulation; Zinc; Zinc-finger.
FT CHAIN 1..459
FT /note="Fez family zinc finger protein 2"
FT /id="PRO_0000295119"
FT ZN_FING 277..299
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 305..327
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 333..355
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 361..383
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 389..411
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 417..440
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 1..22
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 27..42
FT /note="Engrailed homology 1 repressor"
FT /evidence="ECO:0000250"
FT VAR_SEQ 296..304
FT /note="MPVHTGARP -> LRQRVLQKL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026734"
FT VAR_SEQ 305..459
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026735"
FT VARIANT 164
FT /note="P -> T (in dbSNP:rs17852031)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_033213"
FT VARIANT 188
FT /note="G -> D (in a patient with amyotrophic lateral
FT sclerosis; dbSNP:rs199850439)"
FT /evidence="ECO:0000269|PubMed:21220648"
FT /id="VAR_065740"
FT VARIANT 250
FT /note="S -> W (in dbSNP:rs17852032)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_033214"
FT CONFLICT 21
FT /note="S -> L (in Ref. 2; BAA91464)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 459 AA; 48811 MW; F1C9A512C7F0FEAF CRC64;
MASSASLETM VPPACPRAGA SPATSKTLAF SIERIMAKTS EPRAPFEPRP GALEADGSQG
KKLLNLCSPL PCMIPLQPLG YEVPSKTLLS YSELWKSSLR AGGGGGGGGG GGGGGGGAPV
CGASGLCKTN CGVCCKAELG LAPSALPAGR VIKPQVINQA VGLPASGSLY YFNYLDSTAY
PPSELLSGHL FPSGLLNAQA PAALAAHPKL FLLENAKLAG LAADKFPHPA PYPHKERLPA
PLEQVLKENS ALTAERGGVK GHSKLPGGSA DGKPKNFTCE VCGKVFNAHY NLTRHMPVHT
GARPFVCKVC GKGFRQASTL CRHKIIHTQE KPHKCNQCGK AFNRSSTLNT HIRIHAGYKP
FVCEFCGKGF HQKGNYKNHK LTHSGEKQYK CTICNKAFHQ VYNLTFHMHT HNDKKPFTCA
TCGKGFCRNF DLKKHVRKLH DSVGPAAPSA KDLTRTVQS
