ISOC2 (isochorismatase domain containing 2) - Rat Genome Database

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Gene: ISOC2 (isochorismatase domain containing 2) Homo sapiens
Analyze
Symbol: ISOC2
Name: isochorismatase domain containing 2
RGD ID: 1350867
HGNC Page HGNC:26278
Description: Involved in protein destabilization. Located in cytoplasm and nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ18582; isochorismatase domain-containing protein 2; isochorismatase domain-containing protein 2, mitochondrial
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
GRCh381955,452,985 - 55,461,642 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1955,452,985 - 55,462,343 (-)EnsemblGRCh38hg38GRCh38
GRCh371955,964,352 - 55,973,009 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361960,656,168 - 60,664,824 (-)NCBINCBI36Build 36hg18NCBI36
Build 341960,656,167 - 60,664,824NCBI
Celera1953,004,437 - 53,013,142 (-)NCBICelera
Cytogenetic Map19q13.42NCBI
HuRef1952,278,467 - 52,287,157 (-)NCBIHuRef
CHM1_11955,958,477 - 55,967,154 (-)NCBICHM1_1
T2T-CHM13v2.01958,548,867 - 58,557,801 (-)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
cytoplasm  (IBA,IDA,IEA)
nucleus  (IDA,IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:14702039   PMID:14718380   PMID:15231747   PMID:15342556   PMID:15489334   PMID:16169070   PMID:17207965   PMID:17658461   PMID:21516116   PMID:21832049   PMID:21873635   PMID:22658674  
PMID:23874603   PMID:25416956   PMID:25963833   PMID:26186194   PMID:26344197   PMID:27499296   PMID:28380382   PMID:28514442   PMID:28515276   PMID:29229926   PMID:31091453   PMID:31536960  
PMID:31586073   PMID:31741433   PMID:31995728   PMID:32393512   PMID:32850835   PMID:33961781   PMID:34011540   PMID:34428256   PMID:35545034   PMID:35944360   PMID:36114006   PMID:36180891  
PMID:36215168  


Genomics

Comparative Map Data
ISOC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381955,452,985 - 55,461,642 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1955,452,985 - 55,462,343 (-)EnsemblGRCh38hg38GRCh38
GRCh371955,964,352 - 55,973,009 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361960,656,168 - 60,664,824 (-)NCBINCBI36Build 36hg18NCBI36
Build 341960,656,167 - 60,664,824NCBI
Celera1953,004,437 - 53,013,142 (-)NCBICelera
Cytogenetic Map19q13.42NCBI
HuRef1952,278,467 - 52,287,157 (-)NCBIHuRef
CHM1_11955,958,477 - 55,967,154 (-)NCBICHM1_1
T2T-CHM13v2.01958,548,867 - 58,557,801 (-)NCBIT2T-CHM13v2.0
Isoc2a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3974,880,052 - 4,898,716 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl74,880,152 - 4,899,972 (+)EnsemblGRCm39 Ensembl
GRCm3874,877,053 - 4,895,717 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl74,877,153 - 4,896,973 (+)EnsemblGRCm38mm10GRCm38
MGSCv3774,828,655 - 4,847,319 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3674,480,225 - 4,498,487 (+)NCBIMGSCv36mm8
Celera74,618,950 - 4,637,275 (+)NCBICelera
Cytogenetic Map7A1NCBI
cM Map72.82NCBI
Isoc2b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8178,001,735 - 78,022,565 (+)NCBIGRCr8
mRatBN7.2168,972,960 - 68,993,760 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl168,972,960 - 68,993,757 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx174,318,029 - 74,338,796 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0182,882,342 - 82,903,107 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0176,031,095 - 76,051,863 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0172,524,569 - 72,545,331 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl172,524,569 - 72,545,329 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0175,991,119 - 76,011,825 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4167,689,184 - 67,710,260 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1167,767,294 - 67,788,370 (+)NCBI
Celera168,130,600 - 68,151,250 (-)NCBICelera
Cytogenetic Map1q12NCBI
Isoc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955567829,300 - 835,505 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955567829,799 - 835,322 (+)NCBIChiLan1.0ChiLan1.0
ISOC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22061,592,558 - 61,602,213 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11963,321,124 - 63,330,684 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01952,496,880 - 52,507,073 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11961,185,417 - 61,196,482 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1961,185,417 - 61,196,482 (-)Ensemblpanpan1.1panPan2
ISOC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11102,246,881 - 102,253,726 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1102,247,010 - 102,253,733 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1102,303,585 - 102,310,431 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01102,900,055 - 102,906,903 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1102,900,171 - 102,906,907 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11102,537,262 - 102,544,106 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01102,249,372 - 102,256,225 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01103,012,602 - 103,019,448 (+)NCBIUU_Cfam_GSD_1.0
Isoc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244093491,873,059 - 1,877,900 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936886681,643 - 684,281 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936886681,325 - 686,142 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ISOC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl659,602,104 - 59,609,640 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1659,602,100 - 59,609,659 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2654,537,532 - 54,542,844 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ISOC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1648,049,571 - 48,059,174 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl648,049,495 - 48,058,387 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666045697,981 - 707,568 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Isoc2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248321,894,339 - 1,896,851 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248321,891,506 - 1,896,751 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ISOC2
20 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3 copy number gain See cases [RCV000050883] Chr19:50191219..58535818 [GRCh38]
Chr19:50694476..59047185 [GRCh37]
Chr19:55386288..63738997 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 copy number gain See cases [RCV000052925] Chr19:49907832..58557889 [GRCh38]
Chr19:50411089..59069256 [GRCh37]
Chr19:55102901..63761068 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3 copy number gain See cases [RCV000052926] Chr19:51141518..58539965 [GRCh38]
Chr19:51644775..59051332 [GRCh37]
Chr19:56336587..63743144 [NCBI36]
Chr19:19q13.41-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3 copy number gain See cases [RCV000134174] Chr19:52612432..58581203 [GRCh38]
Chr19:53115685..59092570 [GRCh37]
Chr19:57807497..63784382 [NCBI36]
Chr19:19q13.41-13.43		 pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3 copy number gain See cases [RCV000134139] Chr19:52955056..58581203 [GRCh38]
Chr19:53458309..59092570 [GRCh37]
Chr19:58150121..63784382 [NCBI36]
Chr19:19q13.41-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3 copy number gain See cases [RCV000135843] Chr19:50152520..58581203 [GRCh38]
Chr19:50655777..59092570 [GRCh37]
Chr19:55347589..63784382 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3 copy number gain See cases [RCV000138139] Chr19:55048514..56972458 [GRCh38]
Chr19:55595687..57483826 [GRCh37]
Chr19:60251694..62175638 [NCBI36]
Chr19:19q13.42-13.43		 likely pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3 copy number gain See cases [RCV000142008] Chr19:52143873..58445521 [GRCh38]
Chr19:52647126..58956888 [GRCh37]
Chr19:57338938..63648700 [NCBI36]
Chr19:19q13.41-13.43		 pathogenic
GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3 copy number gain See cases [RCV000142245] Chr19:55037146..56982033 [GRCh38]
Chr19:55548514..57493401 [GRCh37]
Chr19:60240326..62185213 [NCBI36]
Chr19:19q13.42-13.43		 uncertain significance
GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3 copy number gain See cases [RCV000142067] Chr19:55066790..55789870 [GRCh38]
Chr19:55578158..56301236 [GRCh37]
Chr19:60269970..60993048 [NCBI36]
Chr19:19q13.42		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3 copy number gain See cases [RCV000445925] Chr19:50489390..59095359 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
GRCh37/hg19 19q13.42-13.43(chr19:54344821-58956888)x3 copy number gain See cases [RCV000448186] Chr19:54344821..58956888 [GRCh37]
Chr19:19q13.42-13.43		 pathogenic
GRCh37/hg19 19q13.42-13.43(chr19:55549385-57489784)x3 copy number gain See cases [RCV000510290] Chr19:55549385..57489784 [GRCh37]
Chr19:19q13.42-13.43		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:55844155-57408007)x3 copy number gain See cases [RCV000511123] Chr19:55844155..57408007 [GRCh37]
Chr19:19q13.42-13.43		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19q13.42-13.43(chr19:55779884-56896574)x1 copy number loss not provided [RCV000684089] Chr19:55779884..56896574 [GRCh37]
Chr19:19q13.42-13.43		 uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3 copy number gain not provided [RCV000684095] Chr19:54196216..58759679 [GRCh37]
Chr19:19q13.42-13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19q13.33-13.43(chr19:50740074-59097160)x3 copy number gain not provided [RCV000740208] Chr19:50740074..59097160 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
NM_001136201.2(ISOC2):c.121G>C (p.Ala41Pro) single nucleotide variant Inborn genetic diseases [RCV003274544] Chr19:55456366 [GRCh38]
Chr19:55967733 [GRCh37]
Chr19:19q13.42		 uncertain significance
GRCh37/hg19 19q13.42(chr19:55909965-55975611)x1 copy number loss not provided [RCV002472807] Chr19:55909965..55975611 [GRCh37]
Chr19:19q13.42		 uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3 copy number gain not provided [RCV001259948] Chr19:54334195..56434037 [GRCh37]
Chr19:19q13.42-13.43		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
GRCh37/hg19 19q13.42-13.43(chr19:55247893-56503347)x1 copy number loss not provided [RCV001834407] Chr19:55247893..56503347 [GRCh37]
Chr19:19q13.42-13.43		 likely pathogenic
GRCh37/hg19 19q13.42-13.43(chr19:55434660-56463734)x1 copy number loss not provided [RCV002279751] Chr19:55434660..56463734 [GRCh37]
Chr19:19q13.42-13.43		 uncertain significance
NM_001136201.2(ISOC2):c.374G>A (p.Arg125Gln) single nucleotide variant Inborn genetic diseases [RCV003264842] Chr19:55455305 [GRCh38]
Chr19:55966672 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_001136201.2(ISOC2):c.349-46C>G single nucleotide variant Inborn genetic diseases [RCV002901865] Chr19:55455376 [GRCh38]
Chr19:55966743 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_001136201.2(ISOC2):c.349-9T>A single nucleotide variant Inborn genetic diseases [RCV002754233] Chr19:55455339 [GRCh38]
Chr19:55966706 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_001136201.2(ISOC2):c.304C>T (p.Arg102Cys) single nucleotide variant Inborn genetic diseases [RCV002779139] Chr19:55455680 [GRCh38]
Chr19:55967047 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_001136201.2(ISOC2):c.349-8A>C single nucleotide variant Inborn genetic diseases [RCV002784153] Chr19:55455338 [GRCh38]
Chr19:55966705 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_001136201.2(ISOC2):c.203C>T (p.Thr68Met) single nucleotide variant Inborn genetic diseases [RCV002980920] Chr19:55455781 [GRCh38]
Chr19:55967148 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_001136201.2(ISOC2):c.5C>T (p.Ala2Val) single nucleotide variant Inborn genetic diseases [RCV002738511] Chr19:55456482 [GRCh38]
Chr19:55967849 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_001136201.2(ISOC2):c.293G>A (p.Arg98Gln) single nucleotide variant Inborn genetic diseases [RCV002870147] Chr19:55455691 [GRCh38]
Chr19:55967058 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_001136201.2(ISOC2):c.29G>A (p.Arg10Gln) single nucleotide variant Inborn genetic diseases [RCV002701951] Chr19:55456458 [GRCh38]
Chr19:55967825 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_001136201.2(ISOC2):c.308C>T (p.Ser103Phe) single nucleotide variant Inborn genetic diseases [RCV002698907] Chr19:55455676 [GRCh38]
Chr19:55967043 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_001136201.2(ISOC2):c.350A>C (p.Asn117Thr) single nucleotide variant Inborn genetic diseases [RCV002745191] Chr19:55455329 [GRCh38]
Chr19:55966696 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_001136201.2(ISOC2):c.449G>A (p.Arg150His) single nucleotide variant Inborn genetic diseases [RCV002674826] Chr19:55455077 [GRCh38]
Chr19:55966444 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_001136201.2(ISOC2):c.349-11T>A single nucleotide variant Inborn genetic diseases [RCV002807792] Chr19:55455341 [GRCh38]
Chr19:55966708 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_001136201.2(ISOC2):c.107A>T (p.Gln36Leu) single nucleotide variant Inborn genetic diseases [RCV002648772] Chr19:55456380 [GRCh38]
Chr19:55967747 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_001136201.2(ISOC2):c.523C>A (p.Pro175Thr) single nucleotide variant Inborn genetic diseases [RCV002724150] Chr19:55455003 [GRCh38]
Chr19:55966370 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_001136201.2(ISOC2):c.415C>T (p.Arg139Cys) single nucleotide variant Inborn genetic diseases [RCV002723408] Chr19:55455264 [GRCh38]
Chr19:55966631 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_001136201.2(ISOC2):c.232C>T (p.Arg78Trp) single nucleotide variant Inborn genetic diseases [RCV003184398] Chr19:55455752 [GRCh38]
Chr19:55967119 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_001136201.2(ISOC2):c.376G>A (p.Gly126Arg) single nucleotide variant Inborn genetic diseases [RCV003356088] Chr19:55455303 [GRCh38]
Chr19:55966670 [GRCh37]
Chr19:19q13.42		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 copy number gain not provided [RCV003485200] Chr19:49625130..57647352 [GRCh37]
Chr19:19q13.33-13.43		 likely pathogenic
NM_001136201.2(ISOC2):c.236C>T (p.Pro79Leu) single nucleotide variant Inborn genetic diseases [RCV003360322] Chr19:55455748 [GRCh38]
Chr19:55967115 [GRCh37]
Chr19:19q13.42		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2987
Count of miRNA genes:804
Interacting mature miRNAs:989
Transcripts:ENST00000085068, ENST00000425675, ENST00000438389, ENST00000587226, ENST00000589080, ENST00000589108, ENST00000590921, ENST00000591718
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
RH98724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371955,964,475 - 55,964,595UniSTSGRCh37
Build 361960,656,287 - 60,656,407RGDNCBI36
Celera1953,004,567 - 53,004,688RGD
Cytogenetic Map19q13.42UniSTS
HuRef1952,278,597 - 52,278,717UniSTS
GeneMap99-GB4 RH Map19289.56UniSTS
D10Bir17  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372216,872,827 - 16,873,088UniSTSGRCh37
GRCh372207,576,863 - 207,577,326UniSTSGRCh37
Build 362207,285,108 - 207,285,571RGDNCBI36
Celera2201,338,297 - 201,338,760RGD
Celera22550,635 - 550,896UniSTS
HuRef3126,708,201 - 126,708,512UniSTS
HuRef2199,426,335 - 199,426,798UniSTS


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 2429 2166 1718 624 1145 464 4308 2107 3519 411 1451 1587 175 1 1198 2745 4 2
Low 10 825 8 799 1 49 88 215 8 9 26 6 43 2
Below cutoff 5 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001136201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001136202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC135592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY207046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP226043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS072409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS463826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB275309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000085068   ⟹   ENSP00000085068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,452,989 - 55,461,645 (-)Ensembl
RefSeq Acc Id: ENST00000425675   ⟹   ENSP00000401726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,452,985 - 55,461,642 (-)Ensembl
RefSeq Acc Id: ENST00000438389   ⟹   ENSP00000406364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,452,985 - 55,462,343 (-)Ensembl
RefSeq Acc Id: ENST00000587226   ⟹   ENSP00000465814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,454,990 - 55,460,031 (-)Ensembl
RefSeq Acc Id: ENST00000589080   ⟹   ENSP00000467111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,455,002 - 55,461,626 (-)Ensembl
RefSeq Acc Id: ENST00000589108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,455,897 - 55,461,624 (-)Ensembl
RefSeq Acc Id: ENST00000590921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,452,989 - 55,455,585 (-)Ensembl
RefSeq Acc Id: ENST00000591718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,455,332 - 55,461,642 (-)Ensembl
RefSeq Acc Id: NM_001136201   ⟹   NP_001129673
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381955,452,985 - 55,461,642 (-)NCBI
GRCh371955,964,345 - 55,973,070 (-)NCBI
Celera1953,004,437 - 53,013,142 (-)RGD
HuRef1952,278,467 - 52,287,157 (-)ENTREZGENE
CHM1_11955,958,477 - 55,967,154 (-)NCBI
T2T-CHM13v2.01958,548,867 - 58,557,801 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001136202   ⟹   NP_001129674
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381955,452,985 - 55,461,642 (-)NCBI
GRCh371955,964,345 - 55,973,070 (-)NCBI
Celera1953,004,437 - 53,013,142 (-)RGD
HuRef1952,278,467 - 52,287,157 (-)ENTREZGENE
CHM1_11955,958,477 - 55,967,154 (-)NCBI
T2T-CHM13v2.01958,548,867 - 58,557,801 (-)NCBI
Sequence:
RefSeq Acc Id: NM_024710   ⟹   NP_078986
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381955,452,985 - 55,461,642 (-)NCBI
GRCh371955,964,345 - 55,973,070 (-)NCBI
Build 361960,656,168 - 60,664,824 (-)NCBI Archive
Celera1953,004,437 - 53,013,142 (-)RGD
HuRef1952,278,467 - 52,287,157 (-)ENTREZGENE
CHM1_11955,958,477 - 55,967,154 (-)NCBI
T2T-CHM13v2.01958,548,867 - 58,557,801 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047439445   ⟹   XP_047295401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381955,452,985 - 55,461,642 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_078986   ⟸   NM_024710
- Peptide Label: isoform 2
- UniProtKB: K7EKW4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001129673   ⟸   NM_001136201
- Peptide Label: isoform 1
- UniProtKB: Q6ZN91 (UniProtKB/Swiss-Prot),   Q9H5G0 (UniProtKB/Swiss-Prot),   Q96AB3 (UniProtKB/Swiss-Prot),   K7EKW4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001129674   ⟸   NM_001136202
- Peptide Label: isoform 3
- UniProtKB: Q96AB3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000406364   ⟸   ENST00000438389
RefSeq Acc Id: ENSP00000401726   ⟸   ENST00000425675
RefSeq Acc Id: ENSP00000085068   ⟸   ENST00000085068
RefSeq Acc Id: ENSP00000465814   ⟸   ENST00000587226
RefSeq Acc Id: ENSP00000467111   ⟸   ENST00000589080
RefSeq Acc Id: XP_047295401   ⟸   XM_047439445
- Peptide Label: isoform X1
Protein Domains
Isochorismatase-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96AB3-F1-model_v2 AlphaFold Q96AB3 1-205 view protein structure

Promoters
RGD ID:13205749
Promoter ID:EPDNEW_H26455
Type:initiation region
Name:ISOC2_1
Description:isochorismatase domain containing 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
GRCh381955,461,642 - 55,461,702EPDNEW
RGD ID:6795679
Promoter ID:HG_KWN:31061
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001136201,   NM_001136202,   NM_024710
Position:
Human AssemblyChrPosition (strand)Source
Build 361960,664,706 - 60,665,297 (-)MPROMDB
RGD ID:6851938
Promoter ID:EP73775
Type:initiation region
Name:HS_FLJ23469
Description:Hypothetical protein FLJ23469.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361960,664,821 - 60,664,881EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26278 AgrOrtholog
COSMIC ISOC2 COSMIC
Ensembl Genes ENSG00000063241 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000085068 ENTREZGENE
  ENST00000085068.7 UniProtKB/Swiss-Prot
  ENST00000425675 ENTREZGENE
  ENST00000425675.7 UniProtKB/Swiss-Prot
  ENST00000438389 ENTREZGENE
  ENST00000438389.6 UniProtKB/Swiss-Prot
  ENST00000587226.5 UniProtKB/TrEMBL
  ENST00000589080.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.850 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000063241 GTEx
HGNC ID HGNC:26278 ENTREZGENE
Human Proteome Map ISOC2 Human Proteome Map
InterPro Isochorismatase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Isochorismatase-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79763 UniProtKB/Swiss-Prot
NCBI Gene 79763 ENTREZGENE
OMIM 612928 OMIM
PANTHER HYDROLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ISOCHORISMATASE DOMAIN-CONTAINING PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Isochorismatase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134981722 PharmGKB
Superfamily-SCOP SSF52499 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ISOC2_HUMAN UniProtKB/Swiss-Prot
  K7EKW4 ENTREZGENE, UniProtKB/TrEMBL
  K7ENV7_HUMAN UniProtKB/TrEMBL
  Q6ZN91 ENTREZGENE
  Q96AB3 ENTREZGENE
  Q9H5G0 ENTREZGENE
UniProt Secondary Q6ZN91 UniProtKB/Swiss-Prot
  Q9H5G0 UniProtKB/Swiss-Prot