Gene

smc3

ID

ZDB-GENE-030131-3196

Name

structural maintenance of chromosomes 3

Symbol

smc3 Nomenclature History

Previous Names

cspg6 (1)
im:7142991
wu:fb22e01
wu:fc30d07

Type

protein_coding_gene

Location

Chr: 22 Mapping Details/Browsers

Description

Exhibits DNA-binding transcription factor activity, RNA polymerase II-specific. Involved in mitotic sister chromatid cohesion and regulation of transcription by RNA polymerase II. Predicted to localize to chromosome and nucleus. Used to study Cornelia de Lange syndrome. Human ortholog(s) of this gene implicated in Cornelia de Lange syndrome 3. Is expressed in several structures, including axis; blastoderm; digestive system; head; and nervous system. Orthologous to human SMC3 (structural maintenance of chromosomes 3).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

10 figures from 5 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7141067 (1 image)
IMAGE:7142991 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 13 figures from 4 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With smc3 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Cornelia de Lange syndrome 3	Alliance	Cornelia de Lange syndrome 3	610759

Associated With smc3 Via Experimental Models

Human Disease	Fish	Conditions	Citations
Cornelia de Lange syndrome	WT + MO1-smc3	standard conditions	Xu et al., 2015

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR003395	RecF/RecN/SMC, N-terminal
Domain	IPR010935	SMCs flexible hinge
Domain	IPR041741	Structural maintenance of chromosomes 3, ABC domain, eukaryotic
Family	IPR024704	Structural maintenance of chromosomes protein
Homologous_superfamily	IPR027417	P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily	IPR036277	SMCs flexible hinge superfamily