ISCA2 (iron-sulfur cluster assembly 2) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: ISCA2 (iron-sulfur cluster assembly 2) Homo sapiens
Analyze
Symbol: ISCA2
Name: iron-sulfur cluster assembly 2
RGD ID: 1319881
HGNC Page HGNC:19857
Description: Enables identical protein binding activity. Predicted to be involved in iron-sulfur cluster assembly and protein maturation by [4Fe-4S] cluster transfer. Located in mitochondrion. Part of mitochondrial [4Fe-4S] assembly complex. Implicated in multiple mitochondrial dysfunctions syndrome 4.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: c14_5557; HBLD1; HESB-like domain-containing protein 1; iron-sulfur cluster assembly 2 homolog, mitochondrial; ISA2; MMDS4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: ISCA2P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381474,493,765 - 74,497,106 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1474,493,756 - 74,497,106 (+)EnsemblGRCh38hg38GRCh38
GRCh371474,960,468 - 74,963,809 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361474,030,221 - 74,031,923 (+)NCBINCBI36Build 36hg18NCBI36
Build 341474,030,220 - 74,031,922NCBI
Celera1454,998,835 - 55,000,656 (+)NCBICelera
Cytogenetic Map14q24.3NCBI
HuRef1455,128,867 - 55,130,715 (+)NCBIHuRef
CHM1_11474,899,959 - 74,901,807 (+)NCBICHM1_1
T2T-CHM13v2.01468,702,736 - 68,706,077 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery. Maio N and Rouault TA, Biochim Biophys Acta. 2015 Jun;1853(6):1493-512. doi: 10.1016/j.bbamcr.2014.09.009. Epub 2014 Sep 19.
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:12477932   PMID:15489334   PMID:19913121   PMID:20628086   PMID:20877624   PMID:21873635   PMID:22323289   PMID:24733926   PMID:25347204   PMID:25416956   PMID:25539947   PMID:25544563  
PMID:26186194   PMID:27432908   PMID:27803151   PMID:28514442   PMID:28700943   PMID:29297947   PMID:29470032   PMID:29791485   PMID:31091453   PMID:31536960   PMID:31831856   PMID:32296183  
PMID:32424628   PMID:32814053   PMID:33562493   PMID:33711344   PMID:33961781   PMID:34373451   PMID:34800366   PMID:34941261   PMID:35714932   PMID:36097192   PMID:37225108  


Genomics

Comparative Map Data
ISCA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381474,493,765 - 74,497,106 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1474,493,756 - 74,497,106 (+)EnsemblGRCh38hg38GRCh38
GRCh371474,960,468 - 74,963,809 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361474,030,221 - 74,031,923 (+)NCBINCBI36Build 36hg18NCBI36
Build 341474,030,220 - 74,031,922NCBI
Celera1454,998,835 - 55,000,656 (+)NCBICelera
Cytogenetic Map14q24.3NCBI
HuRef1455,128,867 - 55,130,715 (+)NCBIHuRef
CHM1_11474,899,959 - 74,901,807 (+)NCBICHM1_1
T2T-CHM13v2.01468,702,736 - 68,706,077 (+)NCBIT2T-CHM13v2.0
Isca2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391284,820,007 - 84,821,863 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1284,820,025 - 84,821,862 (+)EnsemblGRCm39 Ensembl
GRCm381284,773,230 - 84,775,089 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1284,773,251 - 84,775,088 (+)EnsemblGRCm38mm10GRCm38
MGSCv371286,114,220 - 86,116,039 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361285,663,018 - 85,664,836 (+)NCBIMGSCv36mm8
Celera1286,229,524 - 86,231,343 (+)NCBICelera
Cytogenetic Map12D1NCBI
cM Map1239.38NCBI
Isca2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86110,149,593 - 110,151,103 (+)NCBIGRCr8
mRatBN7.26104,418,509 - 104,420,019 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1467,719,052 - 67,719,919 (+)EnsemblmRatBN7.2 Ensembl
mRatBN7.2 Ensembl6104,418,454 - 104,420,045 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx6104,587,949 - 104,589,458 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.06104,887,108 - 104,888,617 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.06104,256,458 - 104,257,967 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.06108,488,678 - 108,490,188 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6108,488,678 - 108,490,188 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06117,059,002 - 117,060,512 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46108,815,061 - 108,816,650 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera6102,243,383 - 102,244,893 (+)NCBICelera
Cytogenetic Map6q31NCBI
Isca2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555231,008,246 - 1,010,041 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555231,008,246 - 1,010,030 (-)NCBIChiLan1.0ChiLan1.0
ISCA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21575,577,491 - 75,580,448 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11474,794,022 - 74,795,673 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01455,046,821 - 55,048,602 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11473,894,694 - 73,896,444 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1473,894,694 - 73,896,444 (+)Ensemblpanpan1.1panPan2
ISCA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1847,650,864 - 47,657,896 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl847,650,938 - 47,652,292 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha847,334,798 - 47,342,174 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0847,877,829 - 47,885,208 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl847,877,883 - 47,884,270 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1847,548,997 - 47,556,348 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0847,570,242 - 47,577,621 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0847,968,246 - 47,975,623 (+)NCBIUU_Cfam_GSD_1.0
Isca2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864028,390,176 - 28,392,252 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364883,676,677 - 3,678,949 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364883,676,752 - 3,678,741 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ISCA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl797,740,491 - 97,743,911 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1797,740,479 - 97,746,491 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.27103,582,734 - 103,584,760 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ISCA2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12451,700,941 - 51,702,680 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2451,700,991 - 51,702,211 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605339,935,914 - 39,937,682 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Isca2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473427,165,007 - 27,166,595 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473427,165,000 - 27,166,663 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ISCA2
64 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_194279.4(ISCA2):c.297del (p.Phe99fs) deletion Multiple mitochondrial dysfunctions syndrome 4 [RCV000656511]|not provided [RCV001008511] Chr14:74494830 [GRCh38]
Chr14:74961533 [GRCh37]
Chr14:14q24.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1 copy number loss See cases [RCV000051548] Chr14:73877072..78042422 [GRCh38]
Chr14:74343775..78508765 [GRCh37]
Chr14:73413528..77578518 [NCBI36]
Chr14:14q24.3		 pathogenic
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] Chr14:72787506..99596719 [GRCh38]
Chr14:73254214..100063056 [GRCh37]
Chr14:72323967..99132809 [NCBI36]
Chr14:14q24.2-32.2		 pathogenic
ISCA2, GLY77SER single nucleotide variant MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 [RCV000170534]|Multiple mitochondrial dysfunctions syndrome 4 [RCV000170534] Chr14:14q24.3 pathogenic
GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582) deletion Intellectual disability, mild [RCV000190520] Chr14:73152115..77698582 [GRCh37]
Chr14:14q24.2-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1 copy number loss See cases [RCV000134154] Chr14:69562099..81975384 [GRCh38]
Chr14:70028816..82441728 [GRCh37]
Chr14:69098569..81511481 [NCBI36]
Chr14:14q24.1-31.1		 pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1 copy number loss See cases [RCV000143265] Chr14:73343213..78835059 [GRCh38]
Chr14:73809921..79301402 [GRCh37]
Chr14:72879674..78371155 [NCBI36]
Chr14:14q24.3-31.1		 pathogenic|likely pathogenic
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser) single nucleotide variant Fatal multiple mitochondrial dysfunctions syndrome [RCV000310400]|Global developmental delay [RCV000162184]|Multiple mitochondrial dysfunctions syndrome 4 [RCV000170534]|not provided [RCV000255374] Chr14:74494329 [GRCh38]
Chr14:74961032 [GRCh37]
Chr14:14q24.3		 pathogenic|likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_194279.3(ISCA2):c.-34G>A single nucleotide variant not specified [RCV000439275] Chr14:74493741 [GRCh38]
Chr14:74960444 [GRCh37]
Chr14:14q24.3		 likely benign
NM_194279.4(ISCA2):c.-6A>C single nucleotide variant not specified [RCV000419600] Chr14:74493769 [GRCh38]
Chr14:74960472 [GRCh37]
Chr14:14q24.3		 likely benign
NM_194279.4(ISCA2):c.130G>C (p.Glu44Gln) single nucleotide variant not provided [RCV000941746]|not specified [RCV000430078] Chr14:74494108 [GRCh38]
Chr14:74960811 [GRCh37]
Chr14:14q24.3		 likely benign
NM_194279.3(ISCA2):c.-36C>A single nucleotide variant not specified [RCV000444108] Chr14:74493739 [GRCh38]
Chr14:74960442 [GRCh37]
Chr14:14q24.3		 benign
NM_194279.3(ISCA2):c.-20G>A single nucleotide variant not specified [RCV000430365] Chr14:74493755 [GRCh38]
Chr14:74960458 [GRCh37]
Chr14:14q24.3		 likely benign
NM_194279.4(ISCA2):c.290+10A>C single nucleotide variant not provided [RCV000957229]|not specified [RCV000441100] Chr14:74494400 [GRCh38]
Chr14:74961103 [GRCh37]
Chr14:14q24.3		 benign
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_194279.4(ISCA2):c.175-14T>C single nucleotide variant not provided [RCV002066689]|not specified [RCV000610589] Chr14:74494261 [GRCh38]
Chr14:74960964 [GRCh37]
Chr14:14q24.3		 likely benign
NM_194279.4(ISCA2):c.429C>G (p.Gly143=) single nucleotide variant not specified [RCV000616782] Chr14:74494964 [GRCh38]
Chr14:74961667 [GRCh37]
Chr14:14q24.3		 likely benign
NM_194279.4(ISCA2):c.300A>G (p.Glu100=) single nucleotide variant not specified [RCV000614015] Chr14:74494835 [GRCh38]
Chr14:74961538 [GRCh37]
Chr14:14q24.3		 likely benign
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33		 pathogenic
NM_194279.3(ISCA2):c.295delT (p.Phe99Leufs) deletion Multiple mitochondrial dysfunctions syndrome 4 [RCV000627030] Chr14:74494830 [GRCh38]
Chr14:74961533 [GRCh37]
Chr14:14q24.3		 pathogenic
NM_194279.4(ISCA2):c.334A>G (p.Ser112Gly) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 4 [RCV000627031]|not provided [RCV002529803] Chr14:74494869 [GRCh38]
Chr14:74961572 [GRCh37]
Chr14:14q24.3		 pathogenic|uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_194279.4(ISCA2):c.71+31G>T single nucleotide variant not provided [RCV001547663] Chr14:74493876 [GRCh38]
Chr14:74960579 [GRCh37]
Chr14:14q24.3		 likely benign
GRCh37/hg19 14q24.3(chr14:74040231-76368547) copy number loss not provided [RCV000767572] Chr14:74040231..76368547 [GRCh37]
Chr14:14q24.3		 likely pathogenic
NM_194279.4(ISCA2):c.422A>G (p.Gln141Arg) single nucleotide variant Inborn genetic diseases [RCV003270655]|not provided [RCV003779910] Chr14:74494957 [GRCh38]
Chr14:74961660 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.355G>A (p.Ala119Thr) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 4 [RCV001090125]|not specified [RCV000790919] Chr14:74494890 [GRCh38]
Chr14:74961593 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.291-177C>T single nucleotide variant not provided [RCV000840420] Chr14:74494649 [GRCh38]
Chr14:74961352 [GRCh37]
Chr14:14q24.3		 benign
NM_194279.4(ISCA2):c.75C>T (p.Leu25=) single nucleotide variant not provided [RCV001568016] Chr14:74494053 [GRCh38]
Chr14:74960756 [GRCh37]
Chr14:14q24.3		 likely benign
NM_194279.4(ISCA2):c.116C>A (p.Ser39Ter) single nucleotide variant not provided [RCV001593502] Chr14:74494094 [GRCh38]
Chr14:74960797 [GRCh37]
Chr14:14q24.3		 likely pathogenic
NM_194279.4(ISCA2):c.361G>T (p.Val121Leu) single nucleotide variant Inborn genetic diseases [RCV004035766]|Multiple mitochondrial dysfunctions syndrome 4 [RCV001333707]|not provided [RCV001865789] Chr14:74494896 [GRCh38]
Chr14:74961599 [GRCh37]
Chr14:14q24.3		 likely benign|uncertain significance
NM_194279.4(ISCA2):c.72-5C>T single nucleotide variant not provided [RCV001479346] Chr14:74494045 [GRCh38]
Chr14:74960748 [GRCh37]
Chr14:14q24.3		 likely benign
GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3 copy number gain 14q22.2q24.3 duplication [RCV001506967] Chr14:54654001..75828024 [GRCh37]
Chr14:14q22.2-24.3		 likely pathogenic
NC_000014.9:g.74493664T>C single nucleotide variant not provided [RCV001535157] Chr14:74493664 [GRCh38]
Chr14:74960367 [GRCh37]
Chr14:14q24.3		 benign
NM_194279.4(ISCA2):c.*304C>T single nucleotide variant not provided [RCV001593321] Chr14:74495304 [GRCh38]
Chr14:74962007 [GRCh37]
Chr14:14q24.3		 likely benign
NM_194279.4(ISCA2):c.174+6_174+8del microsatellite not provided [RCV001914497] Chr14:74494155..74494157 [GRCh38]
Chr14:74960858..74960860 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.380T>C (p.Leu127Pro) single nucleotide variant not provided [RCV002025925] Chr14:74494915 [GRCh38]
Chr14:74961618 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.437G>A (p.Cys146Tyr) single nucleotide variant not provided [RCV001915222] Chr14:74494972 [GRCh38]
Chr14:74961675 [GRCh37]
Chr14:14q24.3		 uncertain significance
GRCh37/hg19 14q24.3(chr14:74490251-75116040)x3 copy number gain not provided [RCV001827622] Chr14:74490251..75116040 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.291-3C>T single nucleotide variant not provided [RCV001924647] Chr14:74494823 [GRCh38]
Chr14:74961526 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.29C>T (p.Thr10Met) single nucleotide variant not provided [RCV001976321] Chr14:74493803 [GRCh38]
Chr14:74960506 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.62C>T (p.Pro21Leu) single nucleotide variant not provided [RCV001981542] Chr14:74493836 [GRCh38]
Chr14:74960539 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.150C>G (p.Ile50Met) single nucleotide variant not provided [RCV001878045] Chr14:74494128 [GRCh38]
Chr14:74960831 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.153C>T (p.Arg51=) single nucleotide variant ISCA2-related disorder [RCV003911263]|not provided [RCV002209087] Chr14:74494131 [GRCh38]
Chr14:74960834 [GRCh37]
Chr14:14q24.3		 likely benign
NM_194279.4(ISCA2):c.83C>T (p.Ala28Val) single nucleotide variant ISCA2-related disorder [RCV003903382]|not provided [RCV002127125] Chr14:74494061 [GRCh38]
Chr14:74960764 [GRCh37]
Chr14:14q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_194279.4(ISCA2):c.345C>T (p.Phe115=) single nucleotide variant ISCA2-related disorder [RCV004758222]|not provided [RCV002188824] Chr14:74494880 [GRCh38]
Chr14:74961583 [GRCh37]
Chr14:14q24.3		 likely benign
NM_194279.4(ISCA2):c.420A>C (p.Ala140=) single nucleotide variant not provided [RCV002168835] Chr14:74494955 [GRCh38]
Chr14:74961658 [GRCh37]
Chr14:14q24.3		 likely benign
NM_194279.4(ISCA2):c.21G>C (p.Ser7=) single nucleotide variant not provided [RCV002194407] Chr14:74493795 [GRCh38]
Chr14:74960498 [GRCh37]
Chr14:14q24.3		 likely benign
NM_194279.4(ISCA2):c.51C>A (p.Val17=) single nucleotide variant not provided [RCV002170473] Chr14:74493825 [GRCh38]
Chr14:74960528 [GRCh37]
Chr14:14q24.3		 likely benign
NM_194279.4(ISCA2):c.175-12C>A single nucleotide variant not provided [RCV002170725] Chr14:74494263 [GRCh38]
Chr14:74960966 [GRCh37]
Chr14:14q24.3		 likely benign
NM_194279.4(ISCA2):c.72-20C>T single nucleotide variant not provided [RCV002138068] Chr14:74494030 [GRCh38]
Chr14:74960733 [GRCh37]
Chr14:14q24.3		 likely benign
NM_194279.4(ISCA2):c.71+10C>T single nucleotide variant not provided [RCV002183111] Chr14:74493855 [GRCh38]
Chr14:74960558 [GRCh37]
Chr14:14q24.3		 likely benign
NM_194279.4(ISCA2):c.144G>A (p.Gly48=) single nucleotide variant not provided [RCV003118166] Chr14:74494122 [GRCh38]
Chr14:74960825 [GRCh37]
Chr14:14q24.3		 likely benign
NC_000014.8:g.(?_74961509)_(74961703_?)del deletion not provided [RCV003113954] Chr14:74961509..74961703 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.254A>G (p.Lys85Arg) single nucleotide variant Inborn genetic diseases [RCV003096297]|not provided [RCV002278986] Chr14:74494354 [GRCh38]
Chr14:74961057 [GRCh37]
Chr14:14q24.3		 uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33		 pathogenic
NM_194279.4(ISCA2):c.200C>T (p.Ser67Leu) single nucleotide variant not provided [RCV002303048] Chr14:74494300 [GRCh38]
Chr14:74961003 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.304G>T (p.Gly102Cys) single nucleotide variant not provided [RCV003014917] Chr14:74494839 [GRCh38]
Chr14:74961542 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.453dup (p.Ile152fs) duplication not provided [RCV003032365] Chr14:74494987..74494988 [GRCh38]
Chr14:74961690..74961691 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.139G>T (p.Glu47Ter) single nucleotide variant Inborn genetic diseases [RCV002864226] Chr14:74494117 [GRCh38]
Chr14:74960820 [GRCh37]
Chr14:14q24.3		 pathogenic
NM_194279.4(ISCA2):c.111G>A (p.Glu37=) single nucleotide variant not provided [RCV002771204] Chr14:74494089 [GRCh38]
Chr14:74960792 [GRCh37]
Chr14:14q24.3		 likely benign
NM_194279.4(ISCA2):c.422A>T (p.Gln141Leu) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 4 [RCV003134606]|not provided [RCV003076743] Chr14:74494957 [GRCh38]
Chr14:74961660 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.78C>T (p.Leu26=) single nucleotide variant not provided [RCV002614470] Chr14:74494056 [GRCh38]
Chr14:74960759 [GRCh37]
Chr14:14q24.3		 likely benign
NM_194279.4(ISCA2):c.133G>A (p.Ala45Thr) single nucleotide variant Inborn genetic diseases [RCV002981214] Chr14:74494111 [GRCh38]
Chr14:74960814 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.175-17C>G single nucleotide variant not provided [RCV002820295] Chr14:74494258 [GRCh38]
Chr14:74960961 [GRCh37]
Chr14:14q24.3		 likely benign
NM_194279.4(ISCA2):c.37_39del (p.Thr13del) deletion not provided [RCV002979179] Chr14:74493809..74493811 [GRCh38]
Chr14:74960512..74960514 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.263T>A (p.Leu88Gln) single nucleotide variant not provided [RCV003057093] Chr14:74494363 [GRCh38]
Chr14:74961066 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.146A>T (p.Gln49Leu) single nucleotide variant Inborn genetic diseases [RCV002825934] Chr14:74494124 [GRCh38]
Chr14:74960827 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.24C>T (p.Ser8=) single nucleotide variant not provided [RCV002699980] Chr14:74493798 [GRCh38]
Chr14:74960501 [GRCh37]
Chr14:14q24.3		 likely benign
NM_194279.4(ISCA2):c.329C>A (p.Ser110Tyr) single nucleotide variant not provided [RCV002890630] Chr14:74494864 [GRCh38]
Chr14:74961567 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.412C>T (p.Pro138Ser) single nucleotide variant not provided [RCV002850882] Chr14:74494947 [GRCh38]
Chr14:74961650 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.175-11C>G single nucleotide variant not provided [RCV002631038] Chr14:74494264 [GRCh38]
Chr14:74960967 [GRCh37]
Chr14:14q24.3		 likely benign
NM_194279.4(ISCA2):c.67G>C (p.Gly23Arg) single nucleotide variant not provided [RCV002833019] Chr14:74493841 [GRCh38]
Chr14:74960544 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.175-10T>G single nucleotide variant not provided [RCV002649679] Chr14:74494265 [GRCh38]
Chr14:74960968 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.125G>A (p.Ser42Asn) single nucleotide variant not provided [RCV002966813] Chr14:74494103 [GRCh38]
Chr14:74960806 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.322G>C (p.Val108Leu) single nucleotide variant Inborn genetic diseases [RCV002673484] Chr14:74494857 [GRCh38]
Chr14:74961560 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.158_159del (p.Thr53fs) microsatellite not provided [RCV002725502] Chr14:74494134..74494135 [GRCh38]
Chr14:74960837..74960838 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.341C>T (p.Ala114Val) single nucleotide variant Inborn genetic diseases [RCV003205869] Chr14:74494876 [GRCh38]
Chr14:74961579 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.125G>T (p.Ser42Ile) single nucleotide variant not provided [RCV003334166] Chr14:74494103 [GRCh38]
Chr14:74960806 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.313A>G (p.Arg105Gly) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 4 [RCV003331765] Chr14:74494848 [GRCh38]
Chr14:74961551 [GRCh37]
Chr14:14q24.3		 likely pathogenic
GRCh37/hg19 14q24.3(chr14:74883763-77219310)x1 copy number loss not provided [RCV003483211] Chr14:74883763..77219310 [GRCh37]
Chr14:14q24.3		 uncertain significance
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33		 pathogenic
NM_194279.4(ISCA2):c.314G>T (p.Arg105Ile) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 4 [RCV003391157] Chr14:74494849 [GRCh38]
Chr14:74961552 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.154C>T (p.Leu52Phe) single nucleotide variant not provided [RCV003575796] Chr14:74494132 [GRCh38]
Chr14:74960835 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.126C>T (p.Ser42=) single nucleotide variant not provided [RCV003697153] Chr14:74494104 [GRCh38]
Chr14:74960807 [GRCh37]
Chr14:14q24.3		 likely benign
NM_194279.4(ISCA2):c.290+13G>A single nucleotide variant not provided [RCV003840048] Chr14:74494403 [GRCh38]
Chr14:74961106 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.33C>G (p.Ala11=) single nucleotide variant not provided [RCV003854455] Chr14:74493807 [GRCh38]
Chr14:74960510 [GRCh37]
Chr14:14q24.3		 likely benign
NM_194279.4(ISCA2):c.71+3A>T single nucleotide variant Multiple mitochondrial dysfunctions syndrome 4 [RCV003989161] Chr14:74493848 [GRCh38]
Chr14:74960551 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.55C>T (p.Pro19Ser) single nucleotide variant Inborn genetic diseases [RCV004403390] Chr14:74493829 [GRCh38]
Chr14:74960532 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.221T>C (p.Val74Ala) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 4 [RCV004547227] Chr14:74494321 [GRCh38]
Chr14:74961024 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.86C>T (p.Ser29Phe) single nucleotide variant not provided [RCV004772034] Chr14:74494064 [GRCh38]
Chr14:74960767 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_194279.4(ISCA2):c.71+8G>A single nucleotide variant ISCA2-related disorder [RCV004758327] Chr14:74493853 [GRCh38]
Chr14:74960556 [GRCh37]
Chr14:14q24.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1228
Count of miRNA genes:687
Interacting mature miRNAs:756
Transcripts:ENST00000298818, ENST00000554924, ENST00000555139, ENST00000556816
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
RH65075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371474,961,890 - 74,962,024UniSTSGRCh37
Build 361474,031,643 - 74,031,777RGDNCBI36
Celera1455,000,275 - 55,000,409RGD
Cytogenetic Map14q24.3UniSTS
HuRef1455,130,334 - 55,130,468UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 174 1

Sequence


Ensembl Acc Id: ENST00000298818   ⟹   ENSP00000298818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1474,493,756 - 74,495,366 (+)Ensembl
Ensembl Acc Id: ENST00000554924   ⟹   ENSP00000450523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1474,493,765 - 74,495,130 (+)Ensembl
Ensembl Acc Id: ENST00000555139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1474,493,772 - 74,495,022 (+)Ensembl
Ensembl Acc Id: ENST00000556816   ⟹   ENSP00000452007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1474,493,765 - 74,497,106 (+)Ensembl
RefSeq Acc Id: NM_001272007   ⟹   NP_001258936
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381474,493,765 - 74,497,106 (+)NCBI
GRCh371474,960,423 - 74,962,271 (+)NCBI
HuRef1455,128,867 - 55,130,715 (+)NCBI
CHM1_11474,899,959 - 74,901,807 (+)NCBI
T2T-CHM13v2.01468,702,736 - 68,706,077 (+)NCBI
Sequence:
RefSeq Acc Id: NM_194279   ⟹   NP_919255
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381474,493,765 - 74,497,106 (+)NCBI
GRCh371474,960,423 - 74,962,271 (+)NCBI
Build 361474,030,221 - 74,031,923 (+)NCBI Archive
Celera1454,998,835 - 55,000,656 (+)RGD
HuRef1455,128,867 - 55,130,715 (+)NCBI
CHM1_11474,899,959 - 74,901,807 (+)NCBI
T2T-CHM13v2.01468,702,736 - 68,706,077 (+)NCBI
Sequence:
RefSeq Acc Id: NP_919255   ⟸   NM_194279
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8IYZ0 (UniProtKB/Swiss-Prot),   G3V291 (UniProtKB/Swiss-Prot),   A8K3W3 (UniProtKB/Swiss-Prot),   A6NFF1 (UniProtKB/Swiss-Prot),   Q96BB2 (UniProtKB/Swiss-Prot),   Q86U28 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001258936   ⟸   NM_001272007
- Peptide Label: isoform 2 precursor
- UniProtKB: Q86U28 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000452007   ⟸   ENST00000556816
Ensembl Acc Id: ENSP00000298818   ⟸   ENST00000298818
Ensembl Acc Id: ENSP00000450523   ⟸   ENST00000554924

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86U28-F1-model_v2 AlphaFold Q86U28 1-154 view protein structure

Promoters
RGD ID:6791774
Promoter ID:HG_KWN:19787
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_006432,   NM_194279
Position:
Human AssemblyChrPosition (strand)Source
Build 361474,029,641 - 74,030,412 (-)MPROMDB
RGD ID:7228141
Promoter ID:EPDNEW_H19815
Type:initiation region
Name:ISCA2_1
Description:iron-sulfur cluster assembly 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381474,493,765 - 74,493,825EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19857 AgrOrtholog
COSMIC ISCA2 COSMIC
Ensembl Genes ENSG00000165898 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000298818.12 UniProtKB/TrEMBL
  ENST00000554924 ENTREZGENE
  ENST00000554924.1 UniProtKB/Swiss-Prot
  ENST00000556816 ENTREZGENE
  ENST00000556816.6 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.300.12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000165898 GTEx
HGNC ID HGNC:19857 ENTREZGENE
Human Proteome Map ISCA2 Human Proteome Map
InterPro FeS_biogenesis UniProtKB/Swiss-Prot
  FeS_cluster_insertion UniProtKB/Swiss-Prot
  FeS_cluster_insertion_CS UniProtKB/Swiss-Prot
  HesB-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:122961 UniProtKB/Swiss-Prot
NCBI Gene 122961 ENTREZGENE
OMIM 615317 OMIM
PANTHER IRON-SULFUR CLUSTER ASSEMBLY 2 HOMOLOG, MITOCHONDRIAL UniProtKB/Swiss-Prot
  IRON-SULFUR CLUSTER ASSEMBLY 2 HOMOLOG, MITOCHONDRIAL UniProtKB/Swiss-Prot
  IRON-SULFUR CLUSTER ASSEMBLY 2 HOMOLOG, MITOCHONDRIAL UniProtKB/TrEMBL
  IRON-SULFUR CLUSTER ASSEMBLY 2 HOMOLOG, MITOCHONDRIAL UniProtKB/TrEMBL
Pfam Fe-S_biosyn UniProtKB/Swiss-Prot
PharmGKB PA162392315 PharmGKB
PROSITE HESB UniProtKB/Swiss-Prot
Superfamily-SCOP SSF89360 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6NFF1 ENTREZGENE
  A8K3W3 ENTREZGENE
  G3V291 ENTREZGENE
  ISCA2_HUMAN UniProtKB/Swiss-Prot
  J3QSS7_HUMAN UniProtKB/TrEMBL
  Q86U28 ENTREZGENE
  Q8IYZ0 ENTREZGENE
  Q96BB2 ENTREZGENE
UniProt Secondary A6NFF1 UniProtKB/Swiss-Prot
  A8K3W3 UniProtKB/Swiss-Prot
  G3V291 UniProtKB/Swiss-Prot
  Q8IYZ0 UniProtKB/Swiss-Prot
  Q96BB2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-08-13 ISCA2  iron-sulfur cluster assembly 2    iron-sulfur cluster assembly 2 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED