CISD2
entrez
493856
canonical
uniprot
Q8N5K1
canonical
ensembl
ENSG00000145354
resolver
ensp
ENSP00000273986
resolver
enst
ENST00000273986
resolver
genesymbol
CISD2
resolver
genesymbol_syn
CDGSH2
resolver
genesymbol_syn
ERIS
resolver
genesymbol_syn
ZCD2
resolver
hgnc
HGNC:24212
resolver
uniprot
Q7Z3D5
resolver
uniprot_entry
CISD2_HUMAN
resolver
uniprot_sec
Q7Z3D5
resolver
amino_acid_sequence
MVLESVARIVKVQLPAYLKRLPVPESITGFARLTVSEWLRLLPFLGVLALLGYLAVRPFLPKKKQQKDSLINLKIQKENPKVVNEINIEDLCLTKAAYCRCWRSKTFPACDGSHNKHNELTGDNVGPLILKKKEV
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:17846994}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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:0000269|PubMed:17846994, ECO:0000269|PubMed:20010695}.
uniprot
proteins
mass_dalton
15278
uniprot
proteins
mutagenesis
MUTAGEN 92; /note="C->S: Has the same optical signature of the native protein and improves yields of purified protein and a decreased tendency to aggregate."; /evidence="ECO:0000269|PubMed:19580816"; MUTAGEN 99; /note="C->S: Impairs interaction with BCL2; when associated with S-101; S-110 and Q-114."; /evidence="ECO:0000269|PubMed:20010695"; MUTAGEN 101; /note="C->S: Impairs interaction with BCL2; when associated with S-99; S-110 and Q-114."; /evidence="ECO:0000269|PubMed:20010695"; MUTAGEN 110; /note="C->S: Impairs interaction with BCL2; when associated with S-99; S-101 and Q-114."; /evidence="ECO:0000269|PubMed:20010695"; MUTAGEN 114; /note="H->Q: Impairs interaction with BCL2; when associated with S-99; S-101 and S-110."; /evidence="ECO:0000269|PubMed:20010695
uniprot
proteins
protein_family
CISD protein family
uniprot
proteins
protein_family
CISD2 subfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17376863
uniprot
proteins
pubmed
17846994
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19580816
uniprot
proteins
pubmed
20010695
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
25944712
uniprot
proteins
sequence_length
135
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: 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.
uniprot
proteins
transmembrane_region
TRANSMEM 38..60; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins