Reviewed, UniProtKB/Swiss-Prot O43623 (SNAI2_HUMAN)

Names and origin

Protein names

Recommended name:
    Zinc finger protein SNAI2
Alternative name(s):
    Protein snail homolog 2
    Neural crest transcription factor Slug

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.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Transcriptional repressor. Involved in the generation and migration of neural crest cells.
Subcellular location	NucleusProbable.
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). Defects in SNAI2 are the cause of Waardenburg syndrome type 2D (WS2D) [MIM:608890]. Waardenburg syndrome (WS; deafness with pigmentary abnormalities) is a congenital disorder caused by defective function of the embryonic neural crest. Depending on additional symptoms, WS is classified into four types: WS1, WS2, WS3 and WS4. WS2 is a heterogeneous, predominantly sporadic disorder with auditory and pigmentary features identical to those of WS1 [MIM:193500] but without dystopia canthorum.
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
Disease	Deafness Disease mutation Waardenburg syndrome
Domain	Repeat Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Molecular function	Developmental protein Repressor
Gene Ontology (GO)
Biological process	ectoderm and mesoderm interaction Traceable author statement. Source: ProtInc negative regulation of transcription from RNA polymerase II promoter Traceable author statement. Source: ProtInc
Cellular component	nucleus Traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view
Molecule processing
	Chain	1 – 268	268	Zinc finger protein SNAI2
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
Natural variations
	Natural variant	119	1	D → E in NTD.

Sequences

	Sequence		Length	Mass (Da)
	O43623-1 [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 NTD GLU-119.
[3]	"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.
[4]	"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
EMBLGenBankDDBJ	AF042001 Genomic DNA. Translation: AAC34288.1. AF084243 Genomic DNA. Translation: AAD55240.1. BC014890 mRNA. Translation: AAH14890.1. BC015895 mRNA. Translation: AAH15895.1.
RefSeq	NP_003059.1.
UniGene	Hs.360174
3D structure databases
HSSP	HSSP built from PDB template 2ADR based on UniProtKB P07248.
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000019549. Homo sapiens. [Contig view]
GeneID	6591.
KEGG	hsa:6591.
Organism-specific databases
HGNC	HGNC:11094. SNAI2.
HPA	CAB011671.
MIM	602150. gene. 608890. phenotype.
Orphanet	2884. Piebaldism. 895. Waardenburg syndrome type 2.
PharmGKB	PA35945.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	O43623.
HOVERGEN	O43623.
Gene expression databases
ArrayExpress	O43623.
CleanEx	HS_SNAI2.
GermOnline	ENSG00000019549. Homo sapiens.
Family and domain databases
InterPro	IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. IPR007086. Znf_C2H2_sub. [Graphical view]
Gene3D	G3DSA:3.30.160.60. Znf_C2H2/integrase_DNA-bd. 1 hit.
Pfam	PF00096. zf-C2H2. 5 hits. [Graphical view]
PRINTS	PR00048. ZINCFINGER.
ProDom	PD000003. Znf_C2H2. 2 hits. [Graphical view] [Entries sharing at least one domain]
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]
BLOCKS	Search...
Other Resources
SOURCE	Search...
ProtoNet	Search...

Entry information

Entry name

SNAI2_HUMAN

Accession

Primary (citable) accession number: O43623

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	June 1, 1998
Last modified:	July 22, 2008
This is version 83 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)