CISD2 (CDGSH iron sulfur domain 2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: CISD2 (CDGSH iron sulfur domain 2) Homo sapiens
Analyze
Symbol: CISD2
Name: CDGSH iron sulfur domain 2
RGD ID: 1603794
HGNC Page HGNC:24212
Description: Enables 2 iron, 2 sulfur cluster binding activity and protein homodimerization activity. Involved in regulation of autophagy. Located in endoplasmic reticulum membrane and perinuclear endoplasmic reticulum. Part of protein-containing complex. Implicated in Wolfram syndrome 2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CDGSH iron sulfur domain-containing protein 2; CDGSH iron-sulfur domain-containing protein 2; endoplasmic reticulum intermembrane small protein; ERIS; Miner1; mitoNEET related 1; mitoNEET-related 1 protein; NAF-1; nutrient-deprivation autophagy factor-1; WFS2; Wolfram syndrome 2; ZCD2; zinc finger, CDGSH-type domain 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384102,868,992 - 102,892,807 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4102,868,974 - 102,892,807 (+)EnsemblGRCh38hg38GRCh38
GRCh374103,790,149 - 103,813,964 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364104,009,649 - 104,029,164 (+)NCBINCBI36Build 36hg18NCBI36
Celera4101,089,752 - 101,113,582 (+)NCBICelera
Cytogenetic Map4q24NCBI
HuRef499,526,316 - 99,550,157 (+)NCBIHuRef
CHM1_14103,766,606 - 103,790,436 (+)NCBICHM1_1
T2T-CHM13v2.04106,183,319 - 106,207,145 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. Amr S, etal., Am J Hum Genet. 2007 Oct;81(4):673-83. Epub 2007 Aug 20.
2. Cisd2 deficiency drives premature aging and causes mitochondria-mediated defects in mice. Chen YF, etal., Genes Dev. 2009 May 15;23(10):1183-94. doi: 10.1101/gad.1779509.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10739754   PMID:11076863   PMID:11230166   PMID:11256614   PMID:11317648   PMID:12477932   PMID:14702039   PMID:14724730   PMID:15489336   PMID:16344560   PMID:16381901   PMID:17376863  
PMID:17584744   PMID:18029348   PMID:19322201   PMID:19580816   PMID:19946888   PMID:20010695   PMID:20649540   PMID:21832049   PMID:21873635   PMID:22412018   PMID:22658674   PMID:22779921  
PMID:23717386   PMID:23959881   PMID:24159190   PMID:24706857   PMID:25134919   PMID:25371195   PMID:26154755   PMID:26186194   PMID:26344197   PMID:26387034   PMID:26565812   PMID:26621032  
PMID:26638075   PMID:26722601   PMID:27007153   PMID:27499296   PMID:27983920   PMID:28335035   PMID:28514442   PMID:28692057   PMID:28857517   PMID:28928421   PMID:28983596   PMID:29111377  
PMID:29166610   PMID:29237418   PMID:29239282   PMID:29395067   PMID:30194290   PMID:30575818   PMID:30833792   PMID:31056421   PMID:31073040   PMID:31177093   PMID:31617661   PMID:31642036  
PMID:31683052   PMID:31732153   PMID:31871319   PMID:32207855   PMID:32296183   PMID:32633348   PMID:32788342   PMID:32814053   PMID:32877691   PMID:33422617   PMID:33477809   PMID:33545068  
PMID:33752060   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34133714   PMID:34369648   PMID:34432599   PMID:34547371   PMID:34597346   PMID:34709727   PMID:34740104   PMID:35256949  
PMID:35271311   PMID:35337019   PMID:35696571   PMID:35819709   PMID:35844135   PMID:35993436   PMID:36215168   PMID:36610398   PMID:37232246   PMID:37249759   PMID:37506885   PMID:37774976  
PMID:37827155   PMID:37931956   PMID:38113892   PMID:38117590  


Genomics

Comparative Map Data
CISD2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384102,868,992 - 102,892,807 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4102,868,974 - 102,892,807 (+)EnsemblGRCh38hg38GRCh38
GRCh374103,790,149 - 103,813,964 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364104,009,649 - 104,029,164 (+)NCBINCBI36Build 36hg18NCBI36
Celera4101,089,752 - 101,113,582 (+)NCBICelera
Cytogenetic Map4q24NCBI
HuRef499,526,316 - 99,550,157 (+)NCBIHuRef
CHM1_14103,766,606 - 103,790,436 (+)NCBICHM1_1
T2T-CHM13v2.04106,183,319 - 106,207,145 (+)NCBIT2T-CHM13v2.0
Cisd2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393135,112,173 - 135,129,194 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3135,112,173 - 135,129,686 (-)EnsemblGRCm39 Ensembl
GRCm383135,406,412 - 135,424,039 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3135,406,412 - 135,423,925 (-)EnsemblGRCm38mm10GRCm38
MGSCv373135,069,376 - 135,086,397 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363135,343,801 - 135,360,820 (-)NCBIMGSCv36mm8
Celera3141,820,762 - 141,837,774 (-)NCBICelera
Cytogenetic Map3G3NCBI
cM Map362.55NCBI
Cisd2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82226,502,517 - 226,527,325 (-)NCBIGRCr8
mRatBN7.22223,828,937 - 223,853,768 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2223,828,937 - 223,868,946 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2231,554,428 - 231,579,029 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02229,454,165 - 229,478,768 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02224,318,946 - 224,343,554 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02240,586,754 - 240,611,560 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2240,586,754 - 240,611,560 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02259,106,753 - 259,130,712 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42232,902,533 - 232,927,338 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2216,041,027 - 216,061,932 (-)NCBICelera
Cytogenetic Map2q43NCBI
Cisd2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554965,656,686 - 5,673,529 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554965,656,686 - 5,672,888 (-)NCBIChiLan1.0ChiLan1.0
CISD2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23100,912,006 - 100,972,687 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14101,239,467 - 101,259,790 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0495,251,920 - 95,313,404 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14105,954,880 - 105,974,469 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4105,954,880 - 105,975,142 (+)Ensemblpanpan1.1panPan2
CISD2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13224,257,909 - 24,274,732 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3224,257,994 - 24,274,064 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3217,749,212 - 17,766,034 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03224,477,615 - 24,494,434 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3224,477,713 - 24,494,855 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13224,494,845 - 24,511,655 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03224,238,087 - 24,254,903 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03215,607,865 - 15,624,939 (-)NCBIUU_Cfam_GSD_1.0
Cisd2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530117,171,568 - 17,184,110 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936520514,448 - 527,682 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936520514,747 - 527,576 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CISD2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8118,152,227 - 118,164,689 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18118,152,580 - 118,164,695 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28127,126,872 - 127,138,883 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CISD2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1750,968,061 - 50,988,725 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl750,968,111 - 50,988,714 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603729,479,400 - 29,500,029 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cisd2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248305,173,411 - 5,188,098 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248305,173,410 - 5,188,123 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CISD2
57 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001008388.5(CISD2):c.109G>C (p.Glu37Gln) single nucleotide variant Wolfram syndrome 2 [RCV000000940] Chr4:102885221 [GRCh38]
Chr4:103806378 [GRCh37]
Chr4:4q24
pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3
pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3
pathogenic
NM_001008388.5(CISD2):c.240G>A (p.Pro80=) single nucleotide variant Wolfram syndrome 2 [RCV002492454]|not provided [RCV001519221] Chr4:102885352 [GRCh38]
Chr4:103806509 [GRCh37]
Chr4:4q24
benign|likely benign
NM_001008388.4(CISD2):c.330C>G (p.Cys110Trp) single nucleotide variant not specified [RCV000124309] Chr4:102887352 [GRCh38]
Chr4:103808509 [GRCh37]
Chr4:4q24
benign
NM_001008388.4(CISD2):c.330C>T (p.Cys110=) single nucleotide variant not specified [RCV000124310] Chr4:102887352 [GRCh38]
Chr4:103808509 [GRCh37]
Chr4:4q24
benign
NM_001008388.4(CISD2):c.335G>A (p.Gly112Asp) single nucleotide variant not specified [RCV000124311] Chr4:102887357 [GRCh38]
Chr4:103808514 [GRCh37]
Chr4:4q24
benign
NM_001008388.4(CISD2):c.358T>C (p.Leu120=) single nucleotide variant not specified [RCV000124312] Chr4:102887380 [GRCh38]
Chr4:103808537 [GRCh37]
Chr4:4q24
benign
NM_001008388.4(CISD2):c.(104_304)-84_318+724del deletion Wolfram syndrome 2 [RCV000144239] Chr4:102885416..102886154 [GRCh38]
Chr4:4q24
pathogenic
NM_001008388.5(CISD2):c.12G>A (p.Glu4=) single nucleotide variant not provided [RCV000330879] Chr4:102869096 [GRCh38]
Chr4:103790253 [GRCh37]
Chr4:4q24
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_001008388.5(CISD2):c.224T>C (p.Ile75Thr) single nucleotide variant not provided [RCV000425287] Chr4:102885336 [GRCh38]
Chr4:103806493 [GRCh37]
Chr4:4q24
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
NM_001008388.5(CISD2):c.319-20T>C single nucleotide variant Wolfram syndrome 2 [RCV002498907]|not provided [RCV001402699]|not specified [RCV000613284] Chr4:102887321 [GRCh38]
Chr4:103808478 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.336T>C (p.Gly112=) single nucleotide variant not specified [RCV000612084] Chr4:102887358 [GRCh38]
Chr4:103808515 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.-32G>A single nucleotide variant not specified [RCV000604966] Chr4:102869053 [GRCh38]
Chr4:103790210 [GRCh37]
Chr4:4q24
likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q24(chr4:103800194-103870091)x3 copy number gain not provided [RCV000743879] Chr4:103800194..103870091 [GRCh37]
Chr4:4q24
benign
GRCh37/hg19 4q24(chr4:103802242-103813594)x3 copy number gain not provided [RCV000743880] Chr4:103802242..103813594 [GRCh37]
Chr4:4q24
benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_001008388.5(CISD2):c.52C>T (p.Leu18=) single nucleotide variant not provided [RCV000906935] Chr4:102869136 [GRCh38]
Chr4:103790293 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.60G>C (p.Arg20=) single nucleotide variant Wolfram syndrome 2 [RCV002502819]|not provided [RCV000925944] Chr4:102869144 [GRCh38]
Chr4:103790301 [GRCh37]
Chr4:4q24
benign|likely benign
NM_001008388.5(CISD2):c.294T>C (p.Tyr98=) single nucleotide variant not provided [RCV000921601] Chr4:102885406 [GRCh38]
Chr4:103806563 [GRCh37]
Chr4:4q24
likely benign
GRCh37/hg19 4q24(chr4:102851823-104641864) copy number loss Immunodeficiency, common variable, 12 [RCV002280616] Chr4:102851823..104641864 [GRCh37]
Chr4:4q24
likely pathogenic
NM_001008388.5(CISD2):c.103+1G>A single nucleotide variant Wolfram syndrome 2 [RCV000790904] Chr4:102869188 [GRCh38]
Chr4:103790345 [GRCh37]
Chr4:4q24
pathogenic
NM_001008388.5(CISD2):c.48A>C (p.Ala16=) single nucleotide variant not provided [RCV000976037] Chr4:102869132 [GRCh38]
Chr4:103790289 [GRCh37]
Chr4:4q24
likely benign
NC_000004.11:g.(103790345_103806372)_(103813965_?)del deletion Wolfram syndrome 2 [RCV003317783] Chr4:103806372..103813965 [GRCh37]
Chr4:4q24
pathogenic
NM_001008388.5(CISD2):c.170G>A (p.Arg57His) single nucleotide variant not provided [RCV003122002] Chr4:102885282 [GRCh38]
Chr4:103806439 [GRCh37]
Chr4:4q24
uncertain significance
NC_000004.11:g.(?_102001669)_(103806607_?)del deletion not provided [RCV003105379] Chr4:102001669..103806607 [GRCh37]
Chr4:4q24
pathogenic
NC_000004.11:g.(?_101947022)_(106061534_?)del deletion not provided [RCV003107794] Chr4:101947022..106061534 [GRCh37]
Chr4:4q24
pathogenic
NM_001008388.5(CISD2):c.104-9C>A single nucleotide variant Wolfram syndrome 2 [RCV002501449]|not provided [RCV000889624] Chr4:102885207 [GRCh38]
Chr4:103806364 [GRCh37]
Chr4:4q24
benign|likely benign
NM_001008388.5(CISD2):c.*79C>A single nucleotide variant not provided [RCV001355153] Chr4:102887509 [GRCh38]
Chr4:103808666 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.318+20G>A single nucleotide variant not provided [RCV001519809] Chr4:102885450 [GRCh38]
Chr4:103806607 [GRCh37]
Chr4:4q24
benign
NM_001008388.5(CISD2):c.92C>T (p.Ala31Val) single nucleotide variant not provided [RCV002008029] Chr4:102869176 [GRCh38]
Chr4:103790333 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.239C>T (p.Pro80Leu) single nucleotide variant Wolfram syndrome 2 [RCV002479565]|not provided [RCV002012136] Chr4:102885351 [GRCh38]
Chr4:103806508 [GRCh37]
Chr4:4q24
uncertain significance
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21
pathogenic
NM_001008388.5(CISD2):c.227A>T (p.Gln76Leu) single nucleotide variant not provided [RCV002011895] Chr4:102885339 [GRCh38]
Chr4:103806496 [GRCh37]
Chr4:4q24
uncertain significance
NC_000004.11:g.(?_101947022)_(104640832_?)del deletion Beta-D-mannosidosis [RCV001946800]|not provided [RCV003107924] Chr4:101947022..104640832 [GRCh37]
Chr4:4q24
pathogenic|no classifications from unflagged records
NM_001008388.5(CISD2):c.403G>A (p.Val135Ile) single nucleotide variant Inborn genetic diseases [RCV003289108]|not provided [RCV002029995] Chr4:102887425 [GRCh38]
Chr4:103808582 [GRCh37]
Chr4:4q24
uncertain significance
GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3 copy number gain not provided [RCV001827745] Chr4:95490755..109977216 [GRCh37]
Chr4:4q22.3-25
likely pathogenic
NM_001008388.5(CISD2):c.103+6C>A single nucleotide variant Wolfram syndrome 2 [RCV002503362]|not provided [RCV002051105] Chr4:102869193 [GRCh38]
Chr4:103790350 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.325G>A (p.Ala109Thr) single nucleotide variant not provided [RCV001907684] Chr4:102887347 [GRCh38]
Chr4:103808504 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.83C>T (p.Thr28Ile) single nucleotide variant Wolfram syndrome 2 [RCV002479787]|not provided [RCV002026462] Chr4:102869167 [GRCh38]
Chr4:103790324 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.298A>G (p.Arg100Gly) single nucleotide variant not provided [RCV001903583] Chr4:102885410 [GRCh38]
Chr4:103806567 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.182C>T (p.Pro61Leu) single nucleotide variant not provided [RCV001923813] Chr4:102885294 [GRCh38]
Chr4:103806451 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.393G>A (p.Lys131=) single nucleotide variant not provided [RCV002131887] Chr4:102887415 [GRCh38]
Chr4:103808572 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.104-10A>G single nucleotide variant not provided [RCV002176938] Chr4:102885206 [GRCh38]
Chr4:103806363 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.103+14A>C single nucleotide variant not provided [RCV002168298] Chr4:102869201 [GRCh38]
Chr4:103790358 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.396G>A (p.Lys132=) single nucleotide variant not provided [RCV002157261] Chr4:102887418 [GRCh38]
Chr4:103808575 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.120G>A (p.Arg40=) single nucleotide variant not provided [RCV002191729] Chr4:102885232 [GRCh38]
Chr4:103806389 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.318+17C>T single nucleotide variant not provided [RCV002150915] Chr4:102885447 [GRCh38]
Chr4:103806604 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.3G>A (p.Met1Ile) single nucleotide variant Wolfram syndrome 2 [RCV002283771] Chr4:102869087 [GRCh38]
Chr4:103790244 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.103+12C>T single nucleotide variant not provided [RCV002726763] Chr4:102869199 [GRCh38]
Chr4:103790356 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.144C>T (p.Leu48=) single nucleotide variant not provided [RCV002616310] Chr4:102885256 [GRCh38]
Chr4:103806413 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.19G>A (p.Ala7Thr) single nucleotide variant not provided [RCV002861466] Chr4:102869103 [GRCh38]
Chr4:103790260 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.235A>T (p.Asn79Tyr) single nucleotide variant not provided [RCV002662382] Chr4:102885347 [GRCh38]
Chr4:103806504 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.228A>G (p.Gln76=) single nucleotide variant not provided [RCV003039126] Chr4:102885340 [GRCh38]
Chr4:103806497 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.103+12C>G single nucleotide variant not provided [RCV002847260] Chr4:102869199 [GRCh38]
Chr4:103790356 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.264T>A (p.Ile88=) single nucleotide variant not provided [RCV002658938] Chr4:102885376 [GRCh38]
Chr4:103806533 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.226C>A (p.Gln76Lys) single nucleotide variant not provided [RCV003037770] Chr4:102885338 [GRCh38]
Chr4:103806495 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.204T>C (p.Asp68=) single nucleotide variant not provided [RCV002824630] Chr4:102885316 [GRCh38]
Chr4:103806473 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.10G>C (p.Glu4Gln) single nucleotide variant Inborn genetic diseases [RCV002713787] Chr4:102869094 [GRCh38]
Chr4:103790251 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.142C>T (p.Leu48Phe) single nucleotide variant not provided [RCV002791521] Chr4:102885254 [GRCh38]
Chr4:103806411 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.318+19T>C single nucleotide variant not provided [RCV003007511] Chr4:102885449 [GRCh38]
Chr4:103806606 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.183G>A (p.Pro61=) single nucleotide variant not provided [RCV002632016] Chr4:102885295 [GRCh38]
Chr4:103806452 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.84C>G (p.Thr28=) single nucleotide variant not provided [RCV002967355] Chr4:102869168 [GRCh38]
Chr4:103790325 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.103+9C>T single nucleotide variant not provided [RCV002671704] Chr4:102869196 [GRCh38]
Chr4:103790353 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.300G>A (p.Arg100=) single nucleotide variant not provided [RCV002597914] Chr4:102885412 [GRCh38]
Chr4:103806569 [GRCh37]
Chr4:4q24
likely benign
NM_001008388.5(CISD2):c.118C>T (p.Arg40Trp) single nucleotide variant not provided [RCV003050039] Chr4:102885230 [GRCh38]
Chr4:103806387 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.103+5T>G single nucleotide variant not provided [RCV002634264] Chr4:102869192 [GRCh38]
Chr4:103790349 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.318+16A>T single nucleotide variant not provided [RCV003066132] Chr4:102885446 [GRCh38]
Chr4:103806603 [GRCh37]
Chr4:4q24
likely benign
NC_000004.11:g.(?_101947022)_(107268849_?)dup duplication not provided [RCV003154901] Chr4:101947022..107268849 [GRCh37]
Chr4:4q24
uncertain significance
NM_001008388.5(CISD2):c.318+18G>A single nucleotide variant not provided [RCV003660282] Chr4:102885448 [GRCh38]
Chr4:103806605 [GRCh37]
Chr4:4q24
likely benign
GRCh37/hg19 4q23-24(chr4:100542119-103793167)x1 copy number loss not provided [RCV003485432] Chr4:100542119..103793167 [GRCh37]
Chr4:4q23-24
pathogenic
NM_001008388.5(CISD2):c.103+5353C>G single nucleotide variant not provided [RCV003439436] Chr4:102874540 [GRCh38]
Chr4:103795697 [GRCh37]
Chr4:4q24
likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR182hsa-miR-182-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:908
Count of miRNA genes:600
Interacting mature miRNAs:658
Transcripts:ENST00000273986, ENST00000503643, ENST00000574446
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D4S1531  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374107,364,311 - 107,364,649UniSTSGRCh37
Build 364107,583,760 - 107,584,098RGDNCBI36
Celera4104,663,596 - 104,663,930RGD
Cytogenetic Map4q24UniSTS
HuRef4103,099,179 - 103,099,505UniSTS
Marshfield Genetic Map4112.62UniSTS
Marshfield Genetic Map4112.62RGD
D4S1564  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374108,376,723 - 108,376,854UniSTSGRCh37
GRCh374108,376,545 - 108,376,782UniSTSGRCh37
Build 364108,595,994 - 108,596,231RGDNCBI36
Celera4105,670,800 - 105,671,037RGD
Celera4105,670,978 - 105,671,109UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map4q24UniSTS
HuRef4104,105,468 - 104,105,701UniSTS
HuRef4104,105,642 - 104,105,773UniSTS
Marshfield Genetic Map4112.62RGD
Genethon Genetic Map4111.1UniSTS
TNG Radiation Hybrid Map465959.0UniSTS
Stanford-G3 RH Map46210.0UniSTS
GeneMap99-GB4 RH Map4503.61UniSTS
Whitehead-YAC Contig Map4 UniSTS
NCBI RH Map41165.9UniSTS
GeneMap99-G3 RH Map46156.0UniSTS
D4S246  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371632,470,620 - 32,470,769UniSTSGRCh37
GRCh374103,809,105 - 103,809,267UniSTSGRCh37
Build 364104,028,541 - 104,028,701RGDNCBI36
Celera4101,108,723 - 101,108,885RGD
Cytogenetic Map4q24UniSTS
HuRef499,545,287 - 99,545,447UniSTS
SHGC-111455  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,803,497 - 103,803,710UniSTSGRCh37
Build 364104,022,934 - 104,023,147RGDNCBI36
Celera4101,103,114 - 101,103,327RGD
Cytogenetic Map4q24UniSTS
HuRef499,539,678 - 99,539,891UniSTS
WI-22115  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,809,431 - 103,809,684UniSTSGRCh37
Build 364104,028,866 - 104,029,119RGDNCBI36
Celera4101,109,049 - 101,109,302RGD
Cytogenetic Map4q24UniSTS
HuRef499,545,612 - 99,545,865UniSTS
GeneMap99-GB4 RH Map4496.79UniSTS
Whitehead-RH Map4539.6UniSTS
NCBI RH Map41119.0UniSTS
PMC310890P8  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q24UniSTS
RH16020  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q24UniSTS
D4S246  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q24UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 929 1108 1628 537 1155 436 2103 221 2850 365 1015 1403 114 528 1258 3
Low 1509 1880 98 87 795 29 2253 1973 884 54 445 210 61 1 676 1530 3 2
Below cutoff 1 2 2

Sequence


RefSeq Acc Id: ENST00000273986   ⟹   ENSP00000273986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,868,992 - 102,892,807 (+)Ensembl
RefSeq Acc Id: ENST00000503643   ⟹   ENSP00000423716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,869,336 - 102,887,756 (+)Ensembl
RefSeq Acc Id: ENST00000574446   ⟹   ENSP00000458976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,869,054 - 102,887,359 (+)Ensembl
RefSeq Acc Id: ENST00000643561   ⟹   ENSP00000494068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,869,322 - 102,888,567 (+)Ensembl
RefSeq Acc Id: ENST00000646632   ⟹   ENSP00000494257
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,868,974 - 102,887,681 (+)Ensembl
RefSeq Acc Id: NM_001008388   ⟹   NP_001008389
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,868,992 - 102,892,807 (+)NCBI
GRCh374103,749,224 - 103,813,964 (+)NCBI
Build 364104,009,649 - 104,029,164 (+)NCBI Archive
HuRef499,526,316 - 99,550,157 (+)ENTREZGENE
CHM1_14103,766,606 - 103,790,436 (+)NCBI
T2T-CHM13v2.04106,183,319 - 106,207,145 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001008389   ⟸   NM_001008388
- UniProtKB: Q7Z3D5 (UniProtKB/Swiss-Prot),   Q8N5K1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000423716   ⟸   ENST00000503643
RefSeq Acc Id: ENSP00000458976   ⟸   ENST00000574446
RefSeq Acc Id: ENSP00000273986   ⟸   ENST00000273986
RefSeq Acc Id: ENSP00000494068   ⟸   ENST00000643561
RefSeq Acc Id: ENSP00000494257   ⟸   ENST00000646632
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N5K1-F1-model_v2 AlphaFold Q8N5K1 1-135 view protein structure

Promoters
RGD ID:6868170
Promoter ID:EPDNEW_H7250
Type:initiation region
Name:CISD2_1
Description:CDGSH iron sulfur domain 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7248  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,868,992 - 102,869,052EPDNEW
RGD ID:6802682
Promoter ID:HG_KWN:48830
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001008388,   NM_181890,   UC003HWQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364104,009,486 - 104,010,057 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24212 AgrOrtholog
COSMIC CISD2 COSMIC
Ensembl Genes ENSG00000145354 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000273986 ENTREZGENE
  ENST00000273986.10 UniProtKB/Swiss-Prot
  ENST00000503643.1 UniProtKB/TrEMBL
  ENST00000574446.1 UniProtKB/TrEMBL
  ENST00000643561.1 UniProtKB/TrEMBL
  ENST00000646632.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.5.90 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000145354 GTEx
HGNC ID HGNC:24212 ENTREZGENE
Human Proteome Map CISD2 Human Proteome Map
InterPro CISD1/2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FeS-contain_CDGSH-typ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FeS-contain_mitoNEET_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FeS-contain_mitoNEET_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:493856 UniProtKB/Swiss-Prot
NCBI Gene 493856 ENTREZGENE
OMIM 611507 OMIM
PANTHER CDGSH IRON-SULFUR DOMAIN-CONTAINING PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13680 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MitoNEET_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-CDGSH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162382300 PharmGKB
SMART ZnF_CDGSH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y4Y3_HUMAN UniProtKB/TrEMBL
  A0A2R8Y540_HUMAN UniProtKB/TrEMBL
  CISD2_HUMAN UniProtKB/Swiss-Prot
  D6RCF4_HUMAN UniProtKB/TrEMBL
  I3L1N9_HUMAN UniProtKB/TrEMBL
  Q7Z3D5 ENTREZGENE
  Q8N5K1 ENTREZGENE
UniProt Secondary Q7Z3D5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 CISD2  CDGSH iron sulfur domain 2  WFS2  Wolfram syndrome 2  Data merged from RGD:1353350 737654 PROVISIONAL