ZCHC2_HUMAN
ID ZCHC2_HUMAN Reviewed; 1178 AA.
AC Q9C0B9; B2RPG6; Q8N3S1; Q9NXF6;
DT 22-AUG-2003, integrated into UniProtKB/Swiss-Prot.
DT 08-APR-2008, sequence version 6.
DT 03-AUG-2022, entry version 156.
DE RecName: Full=Zinc finger CCHC domain-containing protein 2;
GN Name=ZCCHC2 {ECO:0000312|HGNC:HGNC:22916};
GN Synonyms=C18orf49 {ECO:0000312|HGNC:HGNC:22916}, KIAA1744;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=16177791; DOI=10.1038/nature03983;
RA Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D.,
RA Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J.,
RA Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L.,
RA Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A.,
RA Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C.,
RA Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 18.";
RL Nature 437:551-555(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 280-1178 (ISOFORM 1).
RC TISSUE=Skeletal muscle;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 324-1178 (ISOFORM 1/2).
RC TISSUE=Brain;
RX PubMed=11214970; DOI=10.1093/dnares/7.6.347;
RA Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XIX. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:347-355(2000).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 782-1178 (ISOFORM 1/2).
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 [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-236, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9C0B9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9C0B9-2; Sequence=VSP_055995;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA91057.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AC064801; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC137435; AAI37436.1; -; mRNA.
DR EMBL; AL832323; CAD38618.1; -; mRNA.
DR EMBL; AB051531; BAB21835.1; -; mRNA.
DR EMBL; AK000288; BAA91057.1; ALT_INIT; mRNA.
DR CCDS; CCDS45880.1; -. [Q9C0B9-1]
DR RefSeq; NP_060212.4; NM_017742.5. [Q9C0B9-1]
DR AlphaFoldDB; Q9C0B9; -.
DR SMR; Q9C0B9; -.
DR BioGRID; 120225; 18.
DR IntAct; Q9C0B9; 2.
DR MINT; Q9C0B9; -.
DR STRING; 9606.ENSP00000269499; -.
DR GlyGen; Q9C0B9; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9C0B9; -.
DR PhosphoSitePlus; Q9C0B9; -.
DR BioMuta; ZCCHC2; -.
DR DMDM; 182676458; -.
DR EPD; Q9C0B9; -.
DR jPOST; Q9C0B9; -.
DR MassIVE; Q9C0B9; -.
DR MaxQB; Q9C0B9; -.
DR PaxDb; Q9C0B9; -.
DR PeptideAtlas; Q9C0B9; -.
DR PRIDE; Q9C0B9; -.
DR ProteomicsDB; 79994; -. [Q9C0B9-1]
DR Antibodypedia; 23063; 20 antibodies from 9 providers.
DR DNASU; 54877; -.
DR Ensembl; ENST00000269499.10; ENSP00000269499.4; ENSG00000141664.10. [Q9C0B9-1]
DR Ensembl; ENST00000586834.1; ENSP00000464791.1; ENSG00000141664.10. [Q9C0B9-2]
DR GeneID; 54877; -.
DR KEGG; hsa:54877; -.
DR MANE-Select; ENST00000269499.10; ENSP00000269499.4; NM_017742.6; NP_060212.4.
DR UCSC; uc002lip.5; human. [Q9C0B9-1]
DR CTD; 54877; -.
DR DisGeNET; 54877; -.
DR GeneCards; ZCCHC2; -.
DR HGNC; HGNC:22916; ZCCHC2.
DR HPA; ENSG00000141664; Low tissue specificity.
DR neXtProt; NX_Q9C0B9; -.
DR OpenTargets; ENSG00000141664; -.
DR PharmGKB; PA134861180; -.
DR VEuPathDB; HostDB:ENSG00000141664; -.
DR eggNOG; KOG3791; Eukaryota.
DR eggNOG; KOG4400; Eukaryota.
DR GeneTree; ENSGT00520000055637; -.
DR HOGENOM; CLU_012453_0_0_1; -.
DR InParanoid; Q9C0B9; -.
DR OMA; RIDKEYN; -.
DR PhylomeDB; Q9C0B9; -.
DR TreeFam; TF335574; -.
DR PathwayCommons; Q9C0B9; -.
DR SignaLink; Q9C0B9; -.
DR BioGRID-ORCS; 54877; 9 hits in 1089 CRISPR screens.
DR ChiTaRS; ZCCHC2; human.
DR GeneWiki; ZCCHC2; -.
DR GenomeRNAi; 54877; -.
DR Pharos; Q9C0B9; Tdark.
DR PRO; PR:Q9C0B9; -.
DR Proteomes; UP000005640; Chromosome 18.
DR RNAct; Q9C0B9; protein.
DR Bgee; ENSG00000141664; Expressed in secondary oocyte and 194 other tissues.
DR ExpressionAtlas; Q9C0B9; baseline and differential.
DR Genevisible; Q9C0B9; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:LIFEdb.
DR GO; GO:0003676; F:nucleic acid binding; IEA:InterPro.
DR GO; GO:0035091; F:phosphatidylinositol binding; IEA:InterPro.
DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR Gene3D; 3.30.1520.10; -; 1.
DR InterPro; IPR036871; PX_dom_sf.
DR InterPro; IPR042793; ZCCHC2.
DR InterPro; IPR001878; Znf_CCHC.
DR InterPro; IPR036875; Znf_CCHC_sf.
DR PANTHER; PTHR46939; PTHR46939; 1.
DR Pfam; PF00098; zf-CCHC; 1.
DR SMART; SM00343; ZnF_C2HC; 1.
DR SUPFAM; SSF57756; SSF57756; 1.
DR SUPFAM; SSF64268; SSF64268; 1.
DR PROSITE; PS50158; ZF_CCHC; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Metal-binding; Phosphoprotein; Reference proteome;
KW Zinc; Zinc-finger.
FT CHAIN 1..1178
FT /note="Zinc finger CCHC domain-containing protein 2"
FT /id="PRO_0000150949"
FT ZN_FING 1131..1148
FT /note="CCHC-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00047"
FT REGION 1..90
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 207..249
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 557..683
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 936..986
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 15..43
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 44..69
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 568..595
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 625..643
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 644..664
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 665..683
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 936..959
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 236
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT VAR_SEQ 1..321
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_055995"
FT VARIANT 941
FT /note="T -> A (in dbSNP:rs35643152)"
FT /id="VAR_060121"
FT CONFLICT 508
FT /note="K -> R (in Ref. 3; CAD38618)"
FT /evidence="ECO:0000305"
FT CONFLICT 802
FT /note="H -> Y (in Ref. 3; CAD38618)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1178 AA; 125936 MW; B93600F7D6B9A484 CRC64;
MLRMKLPLKP THPAEPPPEA EEPEADARPG AKAPSRRRRD CRPPPPPPPP AGPSRGPLPP
PPPPRGLGPP VAGGAAAGAG MPGGGGGPSA ALREQERVYE WFGLVLGSAQ RLEFMCGLLD
LCNPLELRFL GSCLEDLARK DYHYLRDSEA KANGLSDPGP LADFREPAVR SRLIVYLALL
GSENREAAGR LHRLLPQVDS VLKSLRAARG EGSRGGAEDE RGEDGDGEQD AEKDGSGPEG
GIVEPRVGGG LGSRAQEELL LLFTMASLHP AFSFHQRVTL REHLERLRAA LRGGPEDAEV
EVEPCKFAGP RAQNNSAHGD YMQNNESSLI EQAPIPQDGL TVAPHRAQRE AVHIEKIMLK
GVQRKRADKY WEYTFKVNWS DLSVTTVTKT HQELQEFLLK LPKELSSETF DKTILRALNQ
GSLKREERRH PDLEPILRQL FSSSSQAFLQ SQKVHSFFQS ISSDSLHSIN NLQSSLKTSK
ILEHLKEDSS EASSQEEDVL QHAIIHKKHT GKSPIVNNIG TSCSPLDGLT MQYSEQNGIV
DWRKQSCTTI QHPEHCVTSA DQHSAEKRSL SSINKKKGKP QTEKEKIKKT DNRLNSRING
IRLSTPQHAH GGTVKDVNLD IGSGHDTCGE TSSESYSSPS SPRHDGRESF ESEEEKDRDT
DSNSEDSGNP STTRFTGYGS VNQTVTVKPP VQIASLGNEN GNLLEDPLNS PKYQHISFMP
TLHCVMHNGA QKSEVVVPAP KPADGKTIGM LVPSPVAISA IRESANSTPV GILGPTACTG
ESEKHLELLA SPLPIPSTFL PHSSTPALHL TVQRLKLPPP QGSSESCTVN IPQQPPGSLS
IASPNTAFIP IHNPGSFPGS PVATTDPITK SASQVVGLNQ MVPQIEGNTG TVPQPTNVKV
VLPAAGLSAA QPPASYPLPG SPLAAGVLPS QNSSVLSTAA TSPQPASAGI SQAQATVPPA
VPTHTPGPAP SPSPALTHST AQSDSTSYIS AVGNTNANGT VVPPQQMGSG PCGSCGRRCS
CGTNGNLQLN SYYYPNPMPG PMYRVPSFFT LPSICNGSYL NQAHQSNGNQ LPFFLPQTPY
ANGLVHDPVM GSQANYGMQQ MAGFGRFYPV YPAPNVVANT SGSGPKKNGN VSCYNCGVSG
HYAQDCKQSS MEANQQGTYR LRYAPPLPPS NDTLDSAD
