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Reviewed, UniProtKB/Swiss-Prot O43623 (SNAI2_HUMAN)

Last modified November 3, 2009. Version 97. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Zinc finger protein SNAI2
Alternative name(s):
    Protein snail homolog 2
    Neural crest transcription factor Slug
Gene names
Name: SNAI2
Synonyms: SLUG, SLUGH
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length268 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

Transcriptional repressor. Involved in the generation and migration of neural crest cells.

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 a cause of neural tube defects (NTD). Ref.2

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 268268Zinc finger protein SNAI2
PRO_0000047032

Regions

Zinc finger128 – 15023C2H2-type 1
Zinc finger159 – 18123C2H2-type 2
Zinc finger185 – 20723C2H2-type 3
Zinc finger213 – 23523C2H2-type 4
Zinc finger241 – 26424C2H2-type 5; atypical

Natural variations

Natural variant1191D → E in NTD. Ref.2
VAR_009873

Sequences

Sequence LengthMass (Da)Tools
O43623-1 [UniParc].

Last modified June 1, 1998. Version 1.
Checksum: 63F068C8E6B275D4

FASTA26829,986
        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 

« Hide

References

« Hide '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 NTD 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. expand/collapse author list , 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. expand/collapse author list , 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.

Cross-references

Sequence databases

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.
IPIIPI00013394.
RefSeqNP_003059.1.
UniGeneHs.360174

3D structure databases

HSSPHSSP built from PDB template 2ADR based on UniProtKB P07248.
ModBaseSearch...

Protein-protein interaction databases

STRINGO43623.

Proteomic databases

PRIDEO43623.

Genome annotation databases

EnsemblENST00000020945; ENSP00000020945; ENSG00000019549; Homo sapiens. [Genome view]
ENST00000396822; ENSP00000380034; ENSG00000019549; Homo sapiens. [Genome view]
ENST00000418365; ENSP00000389204; ENSG00000019549; Homo sapiens. [Genome view]
GeneID6591.
KEGGhsa:6591.
UCSCuc003xqp.1. human.

Organism-specific databases

CTD6591.
GeneCardsGC08M049992.
HGNCHGNC:11094. SNAI2.
HPACAB011671.
MIM602150. gene.
608890. phenotype.
Orphanet2884. Piebaldism.
895. Waardenburg syndrome type 2.
PharmGKBPA35945.
GenAtlasSearch...

Phylogenomic databases

HOGENOMO43623.
HOVERGENO43623.
OMAFHSPLPN.

Enzyme and pathway databases

Pathway_Interaction_DBkitpathway. Signaling events mediated by Stem cell factor receptor (c-Kit).

Gene expression databases

ArrayExpressO43623.
BgeeO43623.
CleanExHS_SNAI2.
GenevestigatorO43623.
GermOnlineENSG00000019549. Homo sapiens.

Family and domain databases

InterProIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
Gene3DG3DSA:3.30.160.60. Znf_C2H2/integrase_DNA-bd. 1 hit.
PfamPF00096. zf-C2H2. 5 hits.
[Graphical view]
ProDomPD000003. Znf_C2H2. 2 hits.
[Graphical view] [Entries sharing at least one domain]
SMARTSM00355. ZnF_C2H2. 5 hits.
[Graphical view]
PROSITEPS00028. ZINC_FINGER_C2H2_1. 4 hits.
PS50157. ZINC_FINGER_C2H2_2. 5 hits.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio25641.
SOURCESearch...

Entry information

Entry nameSNAI2_HUMAN
AccessionPrimary (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: November 3, 2009
This is version 97 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
DisclaimerAny 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.

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Recent format changes

Overview of recent format changes

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents