ID   SNAI2_HUMAN             Reviewed;         268 AA.
AC   O43623; B2R6P6;
DT   01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT   01-JUN-1998, sequence version 1.
DT   05-OCT-2010, entry version 106.
DE   RecName: Full=Zinc finger protein SNAI2;
DE   AltName: Full=Neural crest transcription factor Slug;
DE   AltName: Full=Protein snail homolog 2;
GN   Name=SNAI2; Synonyms=SLUG, SLUGH;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX   MEDLINE=98389635; PubMed=9721220; DOI=10.1006/geno.1998.5367;
RA   Cohen M.E., Yin M., Paznekas W.A., Schertzer M., Wood S., Jabs E.W.;
RT   "Human SLUG gene organization, expression, and chromosome map location
RT   on 8q.";
RL   Genomics 51:468-471(1998).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT GLU-119.
RX   MEDLINE=99410583; PubMed=10479723; DOI=10.1016/S1383-5726(99)00002-3;
RA   Stegmann K., Boecker J., Kosan C., Ermert A., Kunz J., Koch M.C.;
RT   "Human transcription factor SLUG: mutation analysis in patients with
RT   neural tube defects and identification of a missense mutation (D119E)
RT   in the Slug subfamily-defining region.";
RL   Mutat. Res. 406:63-69(1999).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   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.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., 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   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Uterus;
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
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [6]
RP   INVOLVEMENT IN WS2D.
RX   MEDLINE=22331041; PubMed=12444107; DOI=10.1093/hmg/11.25.3231;
RA   Sanchez-Martin M., Rodriguez-Garcia A., Perez-Losada J., Sagrera A.,
RA   Read A.P., Sanchez-Garcia I.;
RT   "SLUG (SNAI2) deletions in patients with Waardenburg disease.";
RL   Hum. Mol. Genet. 11:3231-3236(2002).
CC   -!- FUNCTION: Transcriptional repressor. Involved in the generation
CC       and migration of neural crest cells.
CC   -!- SUBCELLULAR LOCATION: Nucleus (Probable).
CC   -!- TISSUE SPECIFICITY: Expressed in placenta and adult heart,
CC       pancreas, liver, kidney and skeletal muscle.
CC   -!- DISEASE: Defects in SNAI2 are the cause of Waardenburg syndrome
CC       type 2D (WS2D) [MIM:608890]. WS2 is a genetically heterogeneous,
CC       autosomal dominant disorder characterized by sensorineural
CC       deafness, pigmentary disturbances, and absence of dystopia
CC       canthorum. The frequency of deafness is higher in WS2 than in WS1.
CC   -!- SIMILARITY: Belongs to the snail C2H2-type zinc-finger protein
CC       family.
CC   -!- SIMILARITY: Contains 5 C2H2-type zinc fingers.
CC   -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
CC       and Haematology;
CC       URL="http://atlasgeneticsoncology.org/Genes/SNAI2ID453.html";
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DR   EMBL; AF042001; AAC34288.1; -; Genomic_DNA.
DR   EMBL; AF084243; AAD55240.1; -; Genomic_DNA.
DR   EMBL; AK312661; BAG35543.1; -; mRNA.
DR   EMBL; CH471068; EAW86700.1; -; Genomic_DNA.
DR   EMBL; BC014890; AAH14890.1; -; mRNA.
DR   EMBL; BC015895; AAH15895.1; -; mRNA.
DR   IPI; IPI00013394; -.
DR   RefSeq; NP_003059.1; -.
DR   UniGene; Hs.360174; -.
DR   ProteinModelPortal; O43623; -.
DR   SMR; O43623; 127-262.
DR   STRING; O43623; -.
DR   PRIDE; O43623; -.
DR   Ensembl; ENST00000020945; ENSP00000020945; ENSG00000019549.
DR   Ensembl; ENST00000396822; ENSP00000380034; ENSG00000019549.
DR   GeneID; 6591; -.
DR   KEGG; hsa:6591; -.
DR   UCSC; uc003xqp.1; human.
DR   CTD; 6591; -.
DR   GeneCards; GC08M049880; -.
DR   HGNC; HGNC:11094; SNAI2.
DR   HPA; CAB011671; -.
DR   MIM; 602150; gene.
DR   MIM; 608890; phenotype.
DR   Orphanet; 2884; Piebaldism.
DR   Orphanet; 895; Waardenburg syndrome type 2.
DR   PharmGKB; PA35945; -.
DR   HOGENOM; HBG713176; -.
DR   HOVERGEN; HBG007477; -.
DR   InParanoid; O43623; -.
DR   OMA; FHSPLPN; -.
DR   OrthoDB; EOG9030C6; -.
DR   PhylomeDB; O43623; -.
DR   Pathway_Interaction_DB; kitpathway; Signaling events mediated by Stem cell factor receptor (c-Kit).
DR   NextBio; 25641; -.
DR   ArrayExpress; O43623; -.
DR   Bgee; O43623; -.
DR   CleanEx; HS_SNAI2; -.
DR   Genevestigator; O43623; -.
DR   GermOnline; ENSG00000019549; Homo sapiens.
DR   GO; GO:0005634; C:nucleus; TAS:ProtInc.
DR   GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
DR   GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR   GO; GO:0007499; P:ectoderm and mesoderm interaction; TAS:ProtInc.
DR   GO; GO:0000122; P:negative regulation of transcription from R...; TAS:ProtInc.
DR   GO; GO:0006350; P:transcription; IEA:UniProtKB-KW.
DR   InterPro; IPR007087; Znf_C2H2.
DR   InterPro; IPR015880; Znf_C2H2-like.
DR   InterPro; IPR013087; Znf_C2H2/integrase_DNA-bd.
DR   Gene3D; G3DSA:3.30.160.60; Znf_C2H2/integrase_DNA-bd; 1.
DR   Pfam; PF00096; zf-C2H2; 2.
DR   SMART; SM00355; ZnF_C2H2; 5.
DR   PROSITE; PS00028; ZINC_FINGER_C2H2_1; 4.
DR   PROSITE; PS50157; ZINC_FINGER_C2H2_2; 5.
PE   1: Evidence at protein level;
KW   Complete proteome; Deafness; Developmental protein; DNA-binding;
KW   Metal-binding; Nucleus; Polymorphism; Repeat; Repressor;
KW   Transcription; Transcription regulation; Waardenburg syndrome; Zinc;
KW   Zinc-finger.
FT   CHAIN         1    268       Zinc finger protein SNAI2.
FT                                /FTId=PRO_0000047032.
FT   ZN_FING     128    150       C2H2-type 1.
FT   ZN_FING     159    181       C2H2-type 2.
FT   ZN_FING     185    207       C2H2-type 3.
FT   ZN_FING     213    235       C2H2-type 4.
FT   ZN_FING     241    264       C2H2-type 5; atypical.
FT   VARIANT     119    119       D -> E (in a patient with neural tube
FT                                defects).
FT                                /FTId=VAR_009873.
SQ   SEQUENCE   268 AA;  29986 MW;  63F068C8E6B275D4 CRC64;
     MPRSFLVKKH FNASKKPNYS ELDTHTVIIS PYLYESYSMP VIPQPEILSS GAYSPITVWT
     TAAPFHAQLP NGLSPLSGYS SSLGRVSPPP PSDTSSKDHS GSESPISDEE ERLQSKLSDP
     HAIEAEKFQC NLCNKTYSTF SGLAKHKQLH CDAQSRKSFS CKYCDKEYVS LGALKMHIRT
     HTLPCVCKIC GKAFSRPWLL QGHIRTHTGE KPFSCPHCNR AFADRSNLRA HLQTHSDVKK
     YQCKNCSKTF SRMSLLHKHE ESGCCVAH
//