ZSCA2_HUMAN
ID ZSCA2_HUMAN Reviewed; 614 AA.
AC Q7Z7L9; A6NG83; B2RMQ9; Q6ZQY9; Q9NWU4;
DT 23-NOV-2004, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 163.
DE RecName: Full=Zinc finger and SCAN domain-containing protein 2;
DE AltName: Full=Zinc finger protein 29 homolog;
DE Short=Zfp-29;
DE AltName: Full=Zinc finger protein 854;
GN Name=ZSCAN2; Synonyms=ZFP29, ZNF854;
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 Shan Y.X., Luo K.T., Guo Z.K., Tang W.W., Ye G.M., Yu L.;
RT "Cloning and characterization of a novel zinc finger gene.";
RL Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANT THR-191.
RC TISSUE=Trachea;
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 [MRNA] (ISOFORM 4).
RA Luo K.T., Yu L.;
RT "Cloning and characterization of a novel SCAN box-containing gene.";
RL Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND VARIANT
RP THR-191.
RC TISSUE=Brain, and Testis;
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).
CC -!- FUNCTION: May be involved in transcriptional regulation during the
CC post-meiotic stages of spermatogenesis. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00187}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q7Z7L9-1; Sequence=Displayed;
CC Name=3;
CC IsoId=Q7Z7L9-3; Sequence=VSP_011947, VSP_011948;
CC Name=4;
CC IsoId=Q7Z7L9-4; Sequence=VSP_040201, VSP_040202;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC87537.1; Type=Erroneous translation; Note=Aberrant splicing.; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AY262259; AAP36989.1; -; mRNA.
DR EMBL; AK000602; BAA91283.1; -; mRNA.
DR EMBL; AK128624; BAC87537.1; ALT_SEQ; mRNA.
DR EMBL; AY279349; AAQ62846.1; -; mRNA.
DR EMBL; AC048382; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC041620; AAH41620.1; -; mRNA.
DR EMBL; BC136342; AAI36343.1; -; mRNA.
DR CCDS; CCDS10329.2; -. [Q7Z7L9-1]
DR CCDS; CCDS32315.1; -. [Q7Z7L9-4]
DR CCDS; CCDS32316.1; -. [Q7Z7L9-3]
DR RefSeq; NP_001007073.1; NM_001007072.1. [Q7Z7L9-4]
DR RefSeq; NP_060364.4; NM_017894.5. [Q7Z7L9-3]
DR RefSeq; NP_870992.2; NM_181877.3. [Q7Z7L9-1]
DR AlphaFoldDB; Q7Z7L9; -.
DR SMR; Q7Z7L9; -.
DR BioGRID; 120326; 19.
DR IntAct; Q7Z7L9; 2.
DR STRING; 9606.ENSP00000410198; -.
DR GlyGen; Q7Z7L9; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q7Z7L9; -.
DR PhosphoSitePlus; Q7Z7L9; -.
DR BioMuta; ZSCAN2; -.
DR DMDM; 296453062; -.
DR EPD; Q7Z7L9; -.
DR jPOST; Q7Z7L9; -.
DR MassIVE; Q7Z7L9; -.
DR MaxQB; Q7Z7L9; -.
DR PaxDb; Q7Z7L9; -.
DR PeptideAtlas; Q7Z7L9; -.
DR PRIDE; Q7Z7L9; -.
DR ProteomicsDB; 69564; -. [Q7Z7L9-1]
DR ProteomicsDB; 69565; -. [Q7Z7L9-3]
DR ProteomicsDB; 69566; -. [Q7Z7L9-4]
DR Antibodypedia; 1841; 135 antibodies from 23 providers.
DR DNASU; 54993; -.
DR Ensembl; ENST00000334141.7; ENSP00000333895.3; ENSG00000176371.14. [Q7Z7L9-3]
DR Ensembl; ENST00000379358.7; ENSP00000368663.3; ENSG00000176371.14. [Q7Z7L9-4]
DR Ensembl; ENST00000448803.6; ENSP00000410198.2; ENSG00000176371.14. [Q7Z7L9-1]
DR Ensembl; ENST00000540894.5; ENSP00000441855.1; ENSG00000176371.14. [Q7Z7L9-1]
DR Ensembl; ENST00000546148.6; ENSP00000445451.1; ENSG00000176371.14. [Q7Z7L9-1]
DR GeneID; 54993; -.
DR KEGG; hsa:54993; -.
DR MANE-Select; ENST00000546148.6; ENSP00000445451.1; NM_181877.4; NP_870992.2.
DR UCSC; uc002bkp.4; human. [Q7Z7L9-1]
DR CTD; 54993; -.
DR DisGeNET; 54993; -.
DR GeneCards; ZSCAN2; -.
DR HGNC; HGNC:20994; ZSCAN2.
DR HPA; ENSG00000176371; Low tissue specificity.
DR neXtProt; NX_Q7Z7L9; -.
DR OpenTargets; ENSG00000176371; -.
DR PharmGKB; PA134941325; -.
DR VEuPathDB; HostDB:ENSG00000176371; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000161710; -.
DR HOGENOM; CLU_002678_49_8_1; -.
DR InParanoid; Q7Z7L9; -.
DR OMA; ILLMHQR; -.
DR PhylomeDB; Q7Z7L9; -.
DR TreeFam; TF337913; -.
DR PathwayCommons; Q7Z7L9; -.
DR SignaLink; Q7Z7L9; -.
DR BioGRID-ORCS; 54993; 16 hits in 1099 CRISPR screens.
DR ChiTaRS; ZSCAN2; human.
DR GenomeRNAi; 54993; -.
DR Pharos; Q7Z7L9; Tdark.
DR PRO; PR:Q7Z7L9; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q7Z7L9; protein.
DR Bgee; ENSG00000176371; Expressed in sperm and 156 other tissues.
DR ExpressionAtlas; Q7Z7L9; baseline and differential.
DR Genevisible; Q7Z7L9; HS.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
DR Gene3D; 1.10.4020.10; -; 1.
DR InterPro; IPR003309; SCAN_dom.
DR InterPro; IPR038269; SCAN_sf.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF02023; SCAN; 1.
DR Pfam; PF00096; zf-C2H2; 14.
DR SMART; SM00431; SCAN; 1.
DR SMART; SM00355; ZnF_C2H2; 14.
DR SUPFAM; SSF57667; SSF57667; 9.
DR PROSITE; PS50804; SCAN_BOX; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 14.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 14.
PE 2: Evidence at transcript level;
KW Alternative splicing; Developmental protein; Differentiation; DNA-binding;
KW Metal-binding; Nucleus; Reference proteome; Repeat; Spermatogenesis;
KW Transcription; Transcription regulation; Zinc; Zinc-finger.
FT CHAIN 1..614
FT /note="Zinc finger and SCAN domain-containing protein 2"
FT /id="PRO_0000047749"
FT DOMAIN 59..132
FT /note="SCAN box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00187"
FT ZN_FING 222..244
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 250..272
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 278..300
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 306..328
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 334..356
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 362..384
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 390..412
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 418..440
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 446..468
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 474..496
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 502..524
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 530..552
FT /note="C2H2-type 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 558..580
FT /note="C2H2-type 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 586..608
FT /note="C2H2-type 14"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 1..26
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 43..76
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 136..150
FT /note="DFEIQSENGENCNQD -> AVAVVASLPVEVTSL (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_011947"
FT VAR_SEQ 136..146
FT /note="DFEIQSENGEN -> ETASCVHGCPV (in isoform 4)"
FT /evidence="ECO:0000303|Ref.3"
FT /id="VSP_040201"
FT VAR_SEQ 147..614
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|Ref.3"
FT /id="VSP_040202"
FT VAR_SEQ 151..614
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_011948"
FT VARIANT 191
FT /note="S -> T (in dbSNP:rs2044502)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_065095"
FT CONFLICT 135..136
FT /note="SD -> N (in Ref. 1; AAP36989)"
FT /evidence="ECO:0000305"
FT CONFLICT Q7Z7L9-3:140
FT /note="V -> F (in Ref. 2; BAA91283 and 5; AAH41620)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 614 AA; 69547 MW; EF36B0199D575D03 CRC64;
MMAADIPRVT TPLSSLVQVP QEEDRQEEEV TTMILEDDSW VQEAVLQEDG PESEPFPQSA
GKGGPQEEVT RGPQGALGRL RELCRRWLRP EVHTKEQMLT MLPKEIQAWL QEHRPESSEE
AAALVEDLTQ TLQDSDFEIQ SENGENCNQD MFENESRKIF SEMPEGESAQ HSDGESDFER
DAGIQRLQGH SPGEDHGEVV SQDREVGQLI GLQGTYLGEK PYECPQCGKT FSRKSHLITH
ERTHTGEKYY KCDECGKSFS DGSNFSRHQT THTGEKPYKC RDCGKSFSRS ANLITHQRIH
TGEKPFQCAE CGKSFSRSPN LIAHQRTHTG EKPYSCPECG KSFGNRSSLN THQGIHTGEK
PYECKECGES FSYNSNLIRH QRIHTGEKPY KCTDCGQRFS QSSALITHRR THTGEKPYQC
SECGKSFSRS SNLATHRRTH MVEKPYKCGV CGKSFSQSSS LIAHQGMHTG EKPYECLTCG
ESFSWSSNLL KHQRIHTGEK PYKCSECGKC FSQRSQLVVH QRTHTGEKPY KCLMCGKSFS
RGSILVMHQR AHLGDKPYRC PECGKGFSWN SVLIIHQRIH TGEKPYKCPE CGKGFSNSSN
FITHQRTHMK EKLY
