O43623 (SNAI2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Zinc finger protein SNAI2

Alternative name(s):
Neural crest transcription factor Slug
Protein snail homolog 2

Gene names

Name:	SNAI2
Synonyms:	SLUG, SLUGH

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	268 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Transcriptional repressor. Involved in the generation and migration of neural crest cells. Plays a role in mediating RAF1-induced transcriptional repression of the TJ protein, occludin (OCLN) and subsequent oncogenic transformation of epithelial cells By similarity.
Subcellular location	Nucleus Probable.
Tissue specificity	Expressed in placenta and adult heart, pancreas, liver, kidney and skeletal muscle.
Involvement in disease	Defects in SNAI2 are the cause of Waardenburg syndrome type 2D (WS2D) [MIM:608890]. WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1. Ref.6
Sequence similarities	Belongs to the snail C2H2-type zinc-finger protein family. Contains 5 C2H2-type zinc fingers.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Disease	Deafness Waardenburg syndrome
Domain	Repeat Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Molecular function	Developmental protein Repressor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	canonical Wnt receptor signaling pathway Inferred from mutant phenotype. Source: UniProtKB cellular response to epidermal growth factor stimulus Inferred from direct assay. Source: BHF-UCL desmosome disassembly Inferred from mutant phenotype. Source: BHF-UCL epithelial to mesenchymal transition Inferred from mutant phenotype. Source: BHF-UCL epithelium development Inferred from sequence or structural similarity. Source: BHF-UCL negative regulation of DNA damage response, signal transduction by p53 class mediator Inferred from mutant phenotype. Source: BHF-UCL negative regulation of canonical Wnt receptor signaling pathway Inferred from direct assay. Source: BHF-UCL negative regulation of catenin import into nucleus Inferred from direct assay. Source: BHF-UCL negative regulation of cell adhesion mediated by integrin Inferred by curator. Source: BHF-UCL negative regulation of chondrocyte differentiation Inferred from mutant phenotype. Source: BHF-UCL negative regulation of keratinocyte proliferation Inferred from direct assay. Source: BHF-UCL negative regulation of vitamin D biosynthetic process Inferred from direct assay. Source: BHF-UCL negative regulation of vitamin D receptor signaling pathway Inferred from direct assay. Source: BHF-UCL neural crest cell development Inferred from mutant phenotype Ref.6. Source: BHF-UCL osteoblast differentiation Inferred from expression pattern. Source: UniProtKB pigmentation Inferred from mutant phenotype Ref.6. Source: BHF-UCL positive regulation of cell migration Inferred from mutant phenotype. Source: BHF-UCL positive regulation of survival gene product expression Inferred from sequence or structural similarity. Source: BHF-UCL regulation of chemokine production Inferred from mutant phenotype. Source: BHF-UCL regulation of osteoblast differentiation Inferred from mutant phenotype. Source: BHF-UCL sensory perception of sound Inferred from mutant phenotype Ref.6. Source: BHF-UCL
Cellular component	nuclear chromatin Inferred from direct assay. Source: BHF-UCL
Molecular function	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Inferred from direct assay. Source: BHF-UCL sequence-specific DNA binding Inferred from direct assay. Source: BHF-UCL zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 268	268	Zinc finger protein SNAI2		PRO_0000047032
Regions
	Zinc finger	128 – 150	23	C2H2-type 1
	Zinc finger	159 – 181	23	C2H2-type 2
	Zinc finger	185 – 207	23	C2H2-type 3
	Zinc finger	213 – 235	23	C2H2-type 4
	Zinc finger	241 – 264	24	C2H2-type 5; atypical
	Region	1 – 20	20	SNAG domain By similarity
Natural variations
	Natural variant	119	1	D → E in a patient with neural tube defects. Ref.2		VAR_009873

Sequences

	Sequence		Length	Mass (Da)
	O43623 [UniParc]. Last modified June 1, 1998. Version 1. Checksum: 63F068C8E6B275D4	FASTA	268	29,986
	10 20 30 40 50 60 MPRSFLVKKH FNASKKPNYS ELDTHTVIIS PYLYESYSMP VIPQPEILSS GAYSPITVWT 70 80 90 100 110 120 TAAPFHAQLP NGLSPLSGYS SSLGRVSPPP PSDTSSKDHS GSESPISDEE ERLQSKLSDP 130 140 150 160 170 180 HAIEAEKFQC NLCNKTYSTF SGLAKHKQLH CDAQSRKSFS CKYCDKEYVS LGALKMHIRT 190 200 210 220 230 240 HTLPCVCKIC GKAFSRPWLL QGHIRTHTGE KPFSCPHCNR AFADRSNLRA HLQTHSDVKK 250 260 YQCKNCSKTF SRMSLLHKHE ESGCCVAH

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human SLUG gene organization, expression, and chromosome map location on 8q." Cohen M.E., Yin M., Paznekas W.A., Schertzer M., Wood S., Jabs E.W. Genomics 51:468-471(1998) [PubMed: 9721220] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"Human transcription factor SLUG: mutation analysis in patients with neural tube defects and identification of a missense mutation (D119E) in the Slug subfamily-defining region." Stegmann K., Boecker J., Kosan C., Ermert A., Kunz J., Koch M.C. Mutat. Res. 406:63-69(1999) [PubMed: 10479723] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT GLU-119.
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Uterus.
[6]	"SLUG (SNAI2) deletions in patients with Waardenburg disease." Sanchez-Martin M., Rodriguez-Garcia A., Perez-Losada J., Sagrera A., Read A.P., Sanchez-Garcia I. Hum. Mol. Genet. 11:3231-3236(2002) [PubMed: 12444107] [Abstract] Cited for: INVOLVEMENT IN WS2D.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF042001 Genomic DNA. Translation: AAC34288.1. AF084243 Genomic DNA. Translation: AAD55240.1. AK312661 mRNA. Translation: BAG35543.1. CH471068 Genomic DNA. Translation: EAW86700.1. BC014890 mRNA. Translation: AAH14890.1. BC015895 mRNA. Translation: AAH15895.1.
IPI	IPI00013394.
RefSeq	NP_003059.1. NM_003068.4.
UniGene	Hs.360174.
3D structure databases
ProteinModelPortal	O43623.
SMR	O43623. Positions 137-262.
ModBase	Search...
Protein-protein interaction databases
STRING	O43623.
Proteomic databases
PRIDE	O43623.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000020945; ENSP00000020945; ENSG00000019549. ENST00000396822; ENSP00000380034; ENSG00000019549.
GeneID	6591.
KEGG	hsa:6591.
UCSC	uc003xqp.1. human.
Organism-specific databases
CTD	6591.
GeneCards	GC08M049880.
HGNC	HGNC:11094. SNAI2.
HPA	CAB011671.
MIM	602150. gene. 608890. phenotype.
neXtProt	NX_O43623.
Orphanet	2884. Piebaldism. 895. Waardenburg syndrome type 2.
PharmGKB	PA35945.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HBG713176.
HOVERGEN	HBG007477.
InParanoid	O43623.
OMA	FHSPLPN.
OrthoDB	EOG4H9XM9.
PhylomeDB	O43623.
Enzyme and pathway databases
Pathway_Interaction_DB	kitpathway. Signaling events mediated by Stem cell factor receptor (c-Kit).
Gene expression databases
ArrayExpress	O43623.
Bgee	O43623.
CleanEx	HS_SNAI2.
Genevestigator	O43623.
GermOnline	ENSG00000019549. Homo sapiens.
Family and domain databases
InterPro	IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view]
Gene3D	G3DSA:3.30.160.60. Znf_C2H2/integrase_DNA-bd. 5 hits.
KO	K05706.
Pfam	PF00096. zf-C2H2. 5 hits. [Graphical view]
SMART	SM00355. ZnF_C2H2. 5 hits. [Graphical view]
PROSITE	PS00028. ZINC_FINGER_C2H2_1. 4 hits. PS50157. ZINC_FINGER_C2H2_2. 5 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	25641.
SOURCE	Search...

Entry information

Entry name

SNAI2_HUMAN

Accession

Primary (citable) accession number: O43623
Secondary accession number(s): B2R6P6

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	June 1, 1998
Last modified:	January 25, 2012
This is version 120 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.