SNAI3 snail family transcriptional repressor 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SNAI3provided by HGNC
Official Full Name: snail family transcriptional repressor 3provided by HGNC
Primary source: HGNC:HGNC:18411
See related: Ensembl:ENSG00000185669 MIM:612741; AllianceGenome:HGNC:18411
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SMUC; SNAIL3; ZNF293; Zfp293
Summary: SNAI3 is a member of the SNAIL gene family, named for the Drosophila snail gene, which plays roles in mesodermal formation during embryogenesis (Katoh and Katoh, 2003 [PubMed 12579345]).[supplied by OMIM, Apr 2009]
Expression: Broad expression in lymph node (RPKM 1.8), spleen (RPKM 1.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q24.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (88677688..88686507, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (94746814..94755643, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (88744096..88752915, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PAK5-stabilized Smuc confers renal cell carcinoma metastasis.
Title: PAK5-stabilized Smuc confers renal cell carcinoma metastasis.
SNAI1, SNAI2, SNAI3 show unequal oncogenic potential, strictly correlating with their ability to promote epithelial-to-mesenchymal transition.
Title: Snail family members unequally trigger EMT and thereby differ in their ability to promote the neoplastic transformation of mammary epithelial cells.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables copper ion binding	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of transcription regulator complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: zinc finger protein SNAI3

Names: protein snail homolog 3; snail family zinc finger 3; snail homolog 3; zinc finger protein 293

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_178310.4 → NP_840101.1 zinc finger protein SNAI3

See identical proteins and their annotated locations for NP_840101.1

Status: VALIDATED

Source sequence(s)

AC138028, BC107058

Consensus CDS

CCDS32505.1

UniProtKB/Swiss-Prot

Q3KNW1, Q86SU5

Related

ENSP00000327968.5, ENST00000332281.6

Conserved Domains (3) summary

COG5048
Location:206 → 278

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:211 → 231

ZF_C2H2; C2H2 Zn finger [structural motif]

sd00019
Location:154 → 174

ZF_C2H2; C2H2 Zn finger [structural motif]