InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CISD2

Summary

InnateDB Protein

IDBP-32297.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CISD2

Protein Name

CDGSH iron sulfur domain 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000273986

InnateDB Gene

IDBG-32295 (CISD2)

Protein Structure

UniProt Annotation

Function

Regulator of autophagy that contributes to antagonize BECN1-mediated cellular autophagy at the endoplasmic reticulum. Participates in the interaction of BCL2 with BECN1 and is required for BCL2-mediated depression of endoplasmic reticulum Ca(2+) stores during autophagy. Contributes to BIK-initiated autophagy, while it is not involved in BIK-dependent activation of caspases. Involved in life span control, probably via its function as regulator of autophagy. {ECO:0000269PubMed:17846994, ECO:0000269PubMed:20010695}.

Subcellular Localization

Endoplasmic reticulum membrane; Single-pass membrane protein. Mitochondrion outer membrane; Single-pass membrane protein. Note=According to PubMed:20010695, it mainly localizes to the endoplasmic reticulum. However, experiments in mouse showed that it mainly localizes to the mitochondrion outer membrane.

Disease Associations

Wolfram syndrome 2 (WFS2) [MIM:604928]: A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses. WFS2 patients additionally show a strong bleeding tendency and gastrointestinal ulceration. Diabetes insipidus may be absent. {ECO:0000269PubMed:17846994}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Testis, small intestine, kidney, lung, brain, heart, pancreas and platelets. {ECO:0000269PubMed:17846994}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0042803	protein homodimerization activity
GO:0044822	poly(A) RNA binding
GO:0046872	metal ion binding
GO:0051537	2 iron, 2 sulfur cluster binding

Biological Process

GO:0000422	mitochondrion degradation
GO:0010259	multicellular organismal aging
GO:0010506	regulation of autophagy

Cellular Component

GO:0005741	mitochondrial outer membrane
GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0043231	intracellular membrane-bounded organelle
GO:0043234	protein complex

Protein Structure and Domains

PDB ID

InterPro

IPR006622 Iron sulphur-containing domain, CDGSH-type, subfamily
IPR018967 Iron sulphur-containing domain, CDGSH-type
IPR019610 Iron sulphur domain-containing, mitoNEET, N-terminal

PFAM

PF09360
PF10660

PRINTS

PIRSF

SMART

SM00704

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q8N5K1