CIAO2B (cytosolic iron-sulfur assembly component 2B) - Rat Genome Database

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Gene: CIAO2B (cytosolic iron-sulfur assembly component 2B) Homo sapiens
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Symbol: CIAO2B
Name: cytosolic iron-sulfur assembly component 2B
RGD ID: 1602116
HGNC Page HGNC:24261
Description: Involved in chromosome segregation; iron-sulfur cluster assembly; and protein maturation by iron-sulfur cluster transfer. Located in cytosol; nucleoplasm; and spindle. Part of MMXD complex and cytosolic [4Fe-4S] assembly targeting complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CGI-128; CIA2B; FAM96B; family with sequence similarity 96 member B; family with sequence similarity 96, member B; hypothetical protein LOC51647; MIP18; mitotic spindle-associated MMXD complex subunit MIP18; MSS19-interacting protein of 18 kDa
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381666,932,065 - 66,934,402 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1666,932,065 - 66,934,423 (-)EnsemblGRCh38hg38GRCh38
GRCh371666,965,968 - 66,968,305 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361665,523,467 - 65,525,804 (-)NCBINCBI36Build 36hg18NCBI36
Celera1651,474,217 - 51,476,579 (-)NCBICelera
Cytogenetic Map16q22.1NCBI
HuRef1652,840,068 - 52,842,436 (-)NCBIHuRef
CHM1_11668,372,966 - 68,375,334 (-)NCBICHM1_1
T2T-CHM13v2.01672,726,365 - 72,728,702 (-)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

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

Human Phenotype
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. Biogenesis of cytosolic and nuclear iron-sulfur proteins and their role in genome stability. Paul VD and Lill R, Biochim Biophys Acta. 2015 Jun;1853(6):1528-39. doi: 10.1016/j.bbamcr.2014.12.018. Epub 2015 Jan 10.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10810093   PMID:11042152   PMID:12107413   PMID:12477932   PMID:15489334   PMID:16189514   PMID:16344560   PMID:17353931   PMID:18029348   PMID:20351267   PMID:20797633   PMID:21516116  
PMID:21722264   PMID:21873635   PMID:22190034   PMID:22678361   PMID:22678362   PMID:22865885   PMID:22898364   PMID:22939629   PMID:22990118   PMID:23022198   PMID:23150669   PMID:23443559  
PMID:23585563   PMID:23891004   PMID:24035498   PMID:24041693   PMID:24130505   PMID:24981860   PMID:25416956   PMID:25963833   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26514267  
PMID:26972000   PMID:27783955   PMID:28178521   PMID:28191891   PMID:28380382   PMID:28514442   PMID:28615450   PMID:29229926   PMID:29507755   PMID:30021884   PMID:30462309   PMID:30742009  
PMID:30833792   PMID:30876693   PMID:31091453   PMID:31229404   PMID:31753913   PMID:32039527   PMID:32296183   PMID:32416067   PMID:32632277   PMID:32640226   PMID:32707033   PMID:32814053  
PMID:33961781   PMID:34083449   PMID:34315543   PMID:34373451   PMID:34709727   PMID:35563538   PMID:35914814   PMID:35944360   PMID:36114006   PMID:36180527   PMID:36282215   PMID:36503010  
PMID:37536630   PMID:37689310   PMID:38113892  


Genomics

Comparative Map Data
CIAO2B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381666,932,065 - 66,934,402 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1666,932,065 - 66,934,423 (-)EnsemblGRCh38hg38GRCh38
GRCh371666,965,968 - 66,968,305 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361665,523,467 - 65,525,804 (-)NCBINCBI36Build 36hg18NCBI36
Celera1651,474,217 - 51,476,579 (-)NCBICelera
Cytogenetic Map16q22.1NCBI
HuRef1652,840,068 - 52,842,436 (-)NCBIHuRef
CHM1_11668,372,966 - 68,375,334 (-)NCBICHM1_1
T2T-CHM13v2.01672,726,365 - 72,728,702 (-)NCBIT2T-CHM13v2.0
Ciao2b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398105,366,471 - 105,368,360 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8105,366,470 - 105,368,597 (-)EnsemblGRCm39 Ensembl
GRCm388104,639,839 - 104,641,728 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8104,639,838 - 104,641,965 (-)EnsemblGRCm38mm10GRCm38
MGSCv378107,163,739 - 107,165,628 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368107,528,968 - 107,530,857 (-)NCBIMGSCv36mm8
Celera8108,872,435 - 108,874,324 (-)NCBICelera
Cytogenetic Map8D3NCBI
cM Map853.04NCBI
Ciao2b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr819350,644 - 352,518 (+)NCBIGRCr8
mRatBN7.219344,194 - 346,068 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl19344,203 - 346,068 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx19332,274 - 334,136 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0191,099,082 - 1,100,944 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.019374,277 - 376,139 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.019551,708 - 553,573 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl19551,708 - 553,573 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.019545,968 - 547,833 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.419262,410 - 264,275 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera19340,409 - 342,274 (+)NCBICelera
Cytogenetic Map19p14NCBI
Ciao2b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495543323,435,373 - 23,437,383 (-)NCBIChiLan1.0ChiLan1.0
CIAO2B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21876,431,846 - 76,434,209 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11682,344,374 - 82,346,676 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01647,247,278 - 47,249,617 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11666,349,377 - 66,351,744 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1666,349,377 - 66,351,733 (-)Ensemblpanpan1.1panPan2
CIAO2B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1582,384,719 - 82,386,655 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl582,384,756 - 82,386,540 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha582,373,423 - 82,375,356 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0582,821,338 - 82,823,270 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl582,821,370 - 82,823,154 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1582,644,528 - 82,646,461 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0582,331,365 - 82,333,201 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0582,970,292 - 82,972,228 (+)NCBIUU_Cfam_GSD_1.0
Ciao2b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934942,404,843 - 42,407,348 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647517,181,536 - 17,184,271 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647517,181,766 - 17,184,266 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CIAO2B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl627,610,470 - 27,612,592 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1627,610,469 - 27,612,617 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CIAO2B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1552,631,539 - 52,633,949 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl552,631,354 - 52,633,856 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604723,279,758 - 23,282,125 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in CIAO2B
3 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 copy number gain See cases [RCV000052405] Chr16:56883592..71279975 [GRCh38]
Chr16:56917504..71313878 [GRCh37]
Chr16:55475005..69871379 [NCBI36]
Chr16:16q13-22.2		 pathogenic
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3 copy number gain See cases [RCV000052408] Chr16:58456122..74708723 [GRCh38]
Chr16:58490026..74742621 [GRCh37]
Chr16:57047527..73300122 [NCBI36]
Chr16:16q21-23.1		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1 copy number loss See cases [RCV000053333] Chr16:62179331..67770414 [GRCh38]
Chr16:62213235..67804317 [GRCh37]
Chr16:60770736..66361818 [NCBI36]
Chr16:16q21-22.1		 pathogenic
GRCh38/hg38 16q21-22.1(chr16:63318997-70555249)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|See cases [RCV000053334] Chr16:63318997..70555249 [GRCh38]
Chr16:63352901..70589152 [GRCh37]
Chr16:61910402..69146653 [NCBI36]
Chr16:16q21-22.1		 pathogenic
GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1 copy number loss See cases [RCV000053335] Chr16:64311275..68062011 [GRCh38]
Chr16:64345179..68095914 [GRCh37]
Chr16:62902680..66653415 [NCBI36]
Chr16:16q21-22.1		 pathogenic
GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1 copy number loss See cases [RCV000053336] Chr16:66694180..67865445 [GRCh38]
Chr16:66728083..67899348 [GRCh37]
Chr16:65285584..66456849 [NCBI36]
Chr16:16q22.1		 pathogenic
GRCh38/hg38 16q21-22.1(chr16:66245888-67473023)x1 copy number loss See cases [RCV000134709] Chr16:66245888..67473023 [GRCh38]
Chr16:66279791..67506926 [GRCh37]
Chr16:64837292..66064427 [NCBI36]
Chr16:16q21-22.1		 pathogenic
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1		 pathogenic
GRCh38/hg38 16q22.1(chr16:66893204-67357178)x3 copy number gain See cases [RCV000137368] Chr16:66893204..67357178 [GRCh38]
Chr16:66927107..67391081 [GRCh37]
Chr16:65484608..65948582 [NCBI36]
Chr16:16q22.1		 likely pathogenic|uncertain significance
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q22.1(chr16:66921669-67312444)x3 copy number gain See cases [RCV000142764] Chr16:66921669..67312444 [GRCh38]
Chr16:66955572..67346347 [GRCh37]
Chr16:65513073..65903848 [NCBI36]
Chr16:16q22.1		 uncertain significance
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 copy number gain See cases [RCV000143752] Chr16:49685521..68401712 [GRCh38]
Chr16:49719432..68435615 [GRCh37]
Chr16:48276933..66993116 [NCBI36]
Chr16:16q12.1-22.1		 pathogenic
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3 copy number gain See cases [RCV000143742] Chr16:65957829..83611443 [GRCh38]
Chr16:65991732..83645048 [GRCh37]
Chr16:64549233..82202549 [NCBI36]
Chr16:16q21-23.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1 copy number loss Breast ductal adenocarcinoma [RCV000207067] Chr16:55359026..70884455 [GRCh37]
Chr16:16q12.2-22.2		 likely pathogenic|uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q21-22.1(chr16:66537021-67369281)x3 copy number gain See cases [RCV000510388] Chr16:66537021..67369281 [GRCh37]
Chr16:16q21-22.1		 uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3		 pathogenic
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 copy number gain not provided [RCV000683820] Chr16:54416050..72453266 [GRCh37]
Chr16:16q12.2-22.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q22.1(chr16:66797153-67109495)x3 copy number gain not provided [RCV000848721] Chr16:66797153..67109495 [GRCh37]
Chr16:16q22.1		 uncertain significance
GRCh37/hg19 16q22.1(chr16:66876199-67150370)x3 copy number gain not provided [RCV000846681] Chr16:66876199..67150370 [GRCh37]
Chr16:16q22.1		 uncertain significance
GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1 copy number loss not provided [RCV001006797] Chr16:65669673..70180183 [GRCh37]
Chr16:16q21-22.1		 pathogenic
NC_000016.9:g.(?_65821800)_(67208957_?)del deletion Cataract 5 multiple types [RCV003107427]|not provided [RCV003122561] Chr16:65821800..67208957 [GRCh37]
Chr16:16q21-22.1		 pathogenic|no classifications from unflagged records
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3		 not provided
NM_016062.4(CIAO2B):c.32T>G (p.Leu11Arg) single nucleotide variant not specified [RCV004610621] Chr16:66934333 [GRCh38]
Chr16:66968236 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_016062.4(CIAO2B):c.271C>G (p.Pro91Ala) single nucleotide variant not specified [RCV004610623] Chr16:66933691 [GRCh38]
Chr16:66967594 [GRCh37]
Chr16:16q22.1		 uncertain significance
NC_000016.9:g.(?_66545871)_(72146396_?)dup duplication Dyskeratosis congenita, autosomal dominant 6 [RCV001900384]|Immunodeficiency [RCV001900385]|not provided [RCV001900386] Chr16:66545871..72146396 [GRCh37]
Chr16:16q21-22.2		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NC_000016.9:g.(?_65821800)_(72146396_?)del deletion Dyskeratosis congenita, autosomal dominant 6 [RCV003122496] Chr16:65821800..72146396 [GRCh37]
Chr16:16q21-22.2		 uncertain significance
NM_016062.4(CIAO2B):c.98A>G (p.Glu33Gly) single nucleotide variant not specified [RCV004279769] Chr16:66934267 [GRCh38]
Chr16:66968170 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_016062.4(CIAO2B):c.113C>T (p.Pro38Leu) single nucleotide variant not specified [RCV004365723] Chr16:66934252 [GRCh38]
Chr16:66968155 [GRCh37]
Chr16:16q22.1		 uncertain significance
GRCh37/hg19 16q21-22.1(chr16:66110708-67240652)x3 copy number gain not provided [RCV003485115] Chr16:66110708..67240652 [GRCh37]
Chr16:16q21-22.1		 uncertain significance
NM_016062.4(CIAO2B):c.354C>T (p.Asp118=) single nucleotide variant not provided [RCV003426734] Chr16:66932820 [GRCh38]
Chr16:66966723 [GRCh37]
Chr16:16q22.1		 likely benign
GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1 copy number loss not specified [RCV003987196] Chr16:55329260..67180113 [GRCh37]
Chr16:16q12.2-22.1		 pathogenic
NM_016062.4(CIAO2B):c.13G>A (p.Gly5Ser) single nucleotide variant not specified [RCV004441732] Chr16:66934352 [GRCh38]
Chr16:66968255 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_016062.4(CIAO2B):c.401A>G (p.Lys134Arg) single nucleotide variant not specified [RCV004441735] Chr16:66932294 [GRCh38]
Chr16:66966197 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_016062.4(CIAO2B):c.55A>G (p.Ile19Val) single nucleotide variant not specified [RCV004441736] Chr16:66934310 [GRCh38]
Chr16:66968213 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_016062.4(CIAO2B):c.167C>G (p.Pro56Arg) single nucleotide variant not specified [RCV004441733] Chr16:66934042 [GRCh38]
Chr16:66967945 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_016062.4(CIAO2B):c.31C>T (p.Leu11Phe) single nucleotide variant not specified [RCV004441734] Chr16:66934334 [GRCh38]
Chr16:66968237 [GRCh37]
Chr16:16q22.1		 uncertain significance
NC_000016.9:g.(?_48799549)_(70756330_?)dup duplication Chromosome 16q12 duplication syndrome [RCV004595820] Chr16:48799549..70756330 [GRCh37]
Chr16:16q12.1-22.1		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1497
Count of miRNA genes:537
Interacting mature miRNAs:609
Transcripts:ENST00000422424, ENST00000562362, ENST00000563490, ENST00000567511, ENST00000568572, ENST00000569299
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
D16S3323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371666,966,013 - 66,966,143UniSTSGRCh37
Build 361665,523,514 - 65,523,644RGDNCBI36
Celera1651,474,272 - 51,474,402RGD
Cytogenetic Map16q22.1UniSTS
HuRef1652,840,123 - 52,840,253UniSTS
Stanford-G3 RH Map162513.0UniSTS
GeneMap99-G3 RH Map162957.0UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_016062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_024525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF151886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF161467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI598300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI603322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM091095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ955804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD674578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA270099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR155511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000422424   ⟹   ENSP00000387471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,932,065 - 66,934,402 (-)Ensembl
Ensembl Acc Id: ENST00000562362   ⟹   ENSP00000463700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,932,066 - 66,934,382 (-)Ensembl
Ensembl Acc Id: ENST00000563490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,932,186 - 66,934,417 (-)Ensembl
Ensembl Acc Id: ENST00000567511   ⟹   ENSP00000455028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,932,067 - 66,934,362 (-)Ensembl
Ensembl Acc Id: ENST00000568572   ⟹   ENSP00000462376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,932,065 - 66,934,250 (-)Ensembl
Ensembl Acc Id: ENST00000569299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,933,469 - 66,934,423 (-)Ensembl
RefSeq Acc Id: NM_016062   ⟹   NP_057146
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381666,932,065 - 66,934,402 (-)NCBI
GRCh371666,965,958 - 66,968,326 (-)NCBI
Build 361665,523,467 - 65,525,804 (-)NCBI Archive
Celera1651,474,217 - 51,476,579 (-)RGD
HuRef1652,840,068 - 52,842,436 (-)NCBI
CHM1_11668,372,966 - 68,375,334 (-)NCBI
T2T-CHM13v2.01672,726,365 - 72,728,702 (-)NCBI
Sequence:
RefSeq Acc Id: NR_024525
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381666,932,065 - 66,934,402 (-)NCBI
GRCh371666,965,958 - 66,968,326 (-)NCBI
Celera1651,474,217 - 51,476,579 (-)RGD
HuRef1652,840,068 - 52,842,436 (-)NCBI
CHM1_11668,372,966 - 68,375,334 (-)NCBI
T2T-CHM13v2.01672,726,365 - 72,728,702 (-)NCBI
Sequence:
RefSeq Acc Id: NR_046109
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381666,932,065 - 66,934,402 (-)NCBI
GRCh371666,965,958 - 66,968,326 (-)NCBI
HuRef1652,840,068 - 52,842,436 (-)NCBI
CHM1_11668,372,966 - 68,375,334 (-)NCBI
T2T-CHM13v2.01672,726,365 - 72,728,702 (-)NCBI
Sequence:
RefSeq Acc Id: NP_057146   ⟸   NM_016062
- UniProtKB: Q9Y3D0 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000463700   ⟸   ENST00000562362
Ensembl Acc Id: ENSP00000455028   ⟸   ENST00000567511
Ensembl Acc Id: ENSP00000387471   ⟸   ENST00000422424
Ensembl Acc Id: ENSP00000462376   ⟸   ENST00000568572
Protein Domains
MIP18 family-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y3D0-F1-model_v2 AlphaFold Q9Y3D0 1-163 view protein structure

Promoters
RGD ID:6792907
Promoter ID:HG_KWN:23996
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_016062,   NM_198061,   NR_024525,   OTTHUMT00000268838
Position:
Human AssemblyChrPosition (strand)Source
Build 361665,525,721 - 65,526,812 (+)MPROMDB
RGD ID:7232461
Promoter ID:EPDNEW_H21976
Type:initiation region
Name:FAM96B_1
Description:family with sequence similarity 96 member B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21978  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381666,934,382 - 66,934,442EPDNEW
RGD ID:7232465
Promoter ID:EPDNEW_H21978
Type:multiple initiation site
Name:FAM96B_2
Description:family with sequence similarity 96 member B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21976  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381666,934,931 - 66,934,991EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24261 AgrOrtholog
COSMIC CIAO2B COSMIC
Ensembl Genes ENSG00000166595 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000422424 ENTREZGENE
  ENST00000422424.7 UniProtKB/Swiss-Prot
  ENST00000562362 ENTREZGENE
  ENST00000562362.5 UniProtKB/TrEMBL
  ENST00000563490 ENTREZGENE
  ENST00000567511.1 UniProtKB/TrEMBL
  ENST00000568572.5 UniProtKB/TrEMBL
Gene3D-CATH 3.30.300.130 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.250.1280 UniProtKB/Swiss-Prot
GTEx ENSG00000166595 GTEx
HGNC ID HGNC:24261 ENTREZGENE
Human Proteome Map CIAO2B Human Proteome Map
InterPro FSCA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MIP18 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MIP18-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51647 UniProtKB/Swiss-Prot
NCBI Gene 51647 ENTREZGENE
OMIM 614778 OMIM
PANTHER CYTOSOLIC IRON-SULFUR ASSEMBLY COMPONENT 2B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12377 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FeS_assembly_P UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671830 PharmGKB
Superfamily-SCOP SSF117916 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt CIA2B_HUMAN UniProtKB/Swiss-Prot
  H3BNV7_HUMAN UniProtKB/TrEMBL
  J3KS95_HUMAN UniProtKB/TrEMBL
  J3QLT9_HUMAN UniProtKB/TrEMBL
  Q9Y3D0 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-22 CIAO2B  cytosolic iron-sulfur assembly component 2B  FAM96B  family with sequence similarity 96 member B  Symbol and/or name change 5135510 APPROVED
2015-11-24 FAM96B  family with sequence similarity 96 member B    family with sequence similarity 96, member B  Symbol and/or name change 5135510 APPROVED