CIBAR2 (CBY1 interacting BAR domain containing 2) - Rat Genome Database

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Gene: CIBAR2 (CBY1 interacting BAR domain containing 2) Homo sapiens
Analyze
Symbol: CIBAR2
Name: CBY1 interacting BAR domain containing 2
RGD ID: 1603858
HGNC Page HGNC:24781
Description: Predicted to be involved in cilium assembly. Predicted to be located in cell projection; centriole; and cytoplasm. Predicted to be active in ciliary basal body and ciliary transition zone.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CBY1-interacting BAR domain-containing protein 2; FAM92B; family with sequence similarity 92 member B; family with sequence similarity 92, member B; FLJ44299; hypothetical protein LOC339145; MGC138149
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh381685,098,358 - 85,112,472 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1685,098,358 - 85,112,472 (-)EnsemblGRCh38hg38GRCh38
GRCh371685,131,964 - 85,146,078 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361683,689,466 - 83,703,615 (-)NCBINCBI36Build 36hg18NCBI36
Celera1669,434,172 - 69,448,321 (-)NCBICelera
Cytogenetic Map16q24.1NCBI
HuRef1670,884,227 - 70,898,379 (-)NCBIHuRef
CHM1_11686,543,493 - 86,557,642 (-)NCBICHM1_1
T2T-CHM13v2.01691,164,997 - 91,179,113 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:18580884   PMID:19262523   PMID:21472827   PMID:21873635   PMID:27528616   PMID:28700943   PMID:32707033   PMID:33961781   PMID:36736316  


Genomics

Comparative Map Data
CIBAR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381685,098,358 - 85,112,472 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1685,098,358 - 85,112,472 (-)EnsemblGRCh38hg38GRCh38
GRCh371685,131,964 - 85,146,078 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361683,689,466 - 83,703,615 (-)NCBINCBI36Build 36hg18NCBI36
Celera1669,434,172 - 69,448,321 (-)NCBICelera
Cytogenetic Map16q24.1NCBI
HuRef1670,884,227 - 70,898,379 (-)NCBIHuRef
CHM1_11686,543,493 - 86,557,642 (-)NCBICHM1_1
T2T-CHM13v2.01691,164,997 - 91,179,113 (-)NCBIT2T-CHM13v2.0
Cibar2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398120,893,136 - 120,904,225 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8120,893,136 - 120,904,205 (-)EnsemblGRCm39 Ensembl
GRCm388120,166,397 - 120,177,486 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8120,166,397 - 120,177,466 (-)EnsemblGRCm38mm10GRCm38
MGSCv378122,690,297 - 122,701,369 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368123,052,375 - 123,063,446 (-)NCBIMGSCv36mm8
Celera8124,386,967 - 124,397,816 (-)NCBICelera
Cytogenetic Map8E1NCBI
cM Map869.09NCBI
Cibar2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81965,126,231 - 65,138,015 (-)NCBIGRCr8
mRatBN7.21948,217,617 - 48,229,418 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1948,215,486 - 48,229,404 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01953,740,763 - 53,754,738 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1953,743,383 - 53,754,602 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01964,469,023 - 64,483,509 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41950,484,967 - 50,515,704 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1947,471,228 - 47,484,566 (-)NCBICelera
Cytogenetic Map19q12NCBI
Cibar2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955541478,603 - 486,046 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955541478,437 - 486,171 (-)NCBIChiLan1.0ChiLan1.0
CIBAR2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21894,850,546 - 94,864,765 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan116100,767,715 - 100,781,936 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01665,768,014 - 65,782,236 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11685,106,709 - 85,120,815 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1685,106,709 - 85,120,815 (-)Ensemblpanpan1.1panPan2
CIBAR2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1567,465,646 - 67,477,709 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl567,465,800 - 67,476,672 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha567,479,175 - 67,490,519 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0567,697,049 - 67,708,402 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl567,696,363 - 67,708,203 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1567,713,044 - 67,724,398 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0567,547,376 - 67,558,687 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0567,962,282 - 67,973,658 (+)NCBIUU_Cfam_GSD_1.0
Cibar2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934927,344,243 - 27,355,629 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049366413,099,616 - 3,109,969 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CIBAR2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl63,710,213 - 3,720,198 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.163,709,429 - 3,720,199 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.264,283,063 - 4,293,072 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CIBAR2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1570,511,431 - 70,525,861 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl570,511,534 - 70,525,197 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660475,217,230 - 5,233,725 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cibar2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247461,798,912 - 1,807,608 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247461,799,521 - 1,808,415 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CIBAR2
12 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 copy number gain See cases [RCV000050840] Chr16:78816291..90081985 [GRCh38]
Chr16:78850188..90148393 [GRCh37]
Chr16:77407689..88675894 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1 copy number loss See cases [RCV000051122] Chr16:83878992..87223838 [GRCh38]
Chr16:83912597..87257444 [GRCh37]
Chr16:82470098..85814945 [NCBI36]
Chr16:16q23.3-24.2		 pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3		 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 16q23.3-24.1(chr16:84081930-85474903)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052019]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052019]|See cases [RCV000052019] Chr16:84081930..85474903 [GRCh38]
Chr16:84115535..85508509 [GRCh37]
Chr16:82673036..84066010 [NCBI36]
Chr16:16q23.3-24.1		 uncertain significance
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 copy number gain See cases [RCV000052423] Chr16:76873569..90081985 [GRCh38]
Chr16:76907466..90148393 [GRCh37]
Chr16:75464967..88675894 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 copy number gain See cases [RCV000052424] Chr16:82173150..90081985 [GRCh38]
Chr16:82206755..90148393 [GRCh37]
Chr16:80764256..88675894 [NCBI36]
Chr16:16q23.3-24.3		 pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:84707538-90081985)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|See cases [RCV000052425] Chr16:84707538..90081985 [GRCh38]
Chr16:84741144..90148393 [GRCh37]
Chr16:83298645..88675894 [NCBI36]
Chr16:16q24.1-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1 copy number loss See cases [RCV000053359] Chr16:78704275..87819342 [GRCh38]
Chr16:78738172..87852948 [GRCh37]
Chr16:77295673..86410449 [NCBI36]
Chr16:16q23.1-24.2		 pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1 copy number loss See cases [RCV000053360] Chr16:81753762..85714791 [GRCh38]
Chr16:81787367..85748397 [GRCh37]
Chr16:80344868..84305898 [NCBI36]
Chr16:16q23.3-24.1		 pathogenic
NM_198491.2(FAM92B):c.376G>A (p.Glu126Lys) single nucleotide variant Malignant melanoma [RCV000071263] Chr16:85107896 [GRCh38]
Chr16:85141502 [GRCh37]
Chr16:83699003 [NCBI36]
Chr16:16q24.1		 not provided
GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3 copy number gain See cases [RCV000135659] Chr16:83988570..90081985 [GRCh38]
Chr16:84022175..90148393 [GRCh37]
Chr16:82579676..88675894 [NCBI36]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1 copy number loss See cases [RCV000136504] Chr16:83687650..86073240 [GRCh38]
Chr16:83721255..86106846 [GRCh37]
Chr16:82278756..84664347 [NCBI36]
Chr16:16q23.3-24.1		 pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 copy number gain See cases [RCV000136898] Chr16:80946659..90081985 [GRCh38]
Chr16:80980556..90148393 [GRCh37]
Chr16:79538057..88675894 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 copy number gain See cases [RCV000137980] Chr16:83478453..89932910 [GRCh38]
Chr16:83512058..89999318 [GRCh37]
Chr16:82069559..88526819 [NCBI36]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh38/hg38 16q24.1(chr16:85026633-85843419)x3 copy number gain See cases [RCV000138715] Chr16:85026633..85843419 [GRCh38]
Chr16:85060239..85877025 [GRCh37]
Chr16:83617740..84434526 [NCBI36]
Chr16:16q24.1		 likely benign
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 16q23.1-24.3(chr16:75377981-90081992)x3 copy number gain See cases [RCV000139302] Chr16:75377981..90081992 [GRCh38]
Chr16:75411879..90148400 [GRCh37]
Chr16:73969380..88675901 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 copy number gain See cases [RCV000141128] Chr16:80717291..90096662 [GRCh38]
Chr16:80751188..90163070 [GRCh37]
Chr16:79308689..88690571 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 copy number gain See cases [RCV000141700] Chr16:76336203..90088654 [GRCh38]
Chr16:76370100..90155062 [GRCh37]
Chr16:74927601..88682563 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 copy number gain See cases [RCV000142698] Chr16:80067315..90057871 [GRCh38]
Chr16:80101212..90124279 [GRCh37]
Chr16:78658713..88651780 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic
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
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 copy number gain See cases [RCV000240108] Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3		 pathogenic
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3		 likely pathogenic
GRCh37/hg19 16q23.3-24.1(chr16:83553094-86098013)x1 copy number loss See cases [RCV000203439] Chr16:83553094..86098013 [GRCh37]
Chr16:16q23.3-24.1		 likely 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 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3		 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 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 16q24.1(chr16:84885505-85656345)x3 copy number gain See cases [RCV000511679] Chr16:84885505..85656345 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4 copy number gain See cases [RCV000511606] Chr16:84937273..89836905 [GRCh37]
Chr16:16q24.1-24.3		 likely pathogenic
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 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 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 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
NM_198491.3(CIBAR2):c.782C>A (p.Ala261Glu) single nucleotide variant not specified [RCV004324063] Chr16:85099318 [GRCh38]
Chr16:85132924 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.905A>G (p.His302Arg) single nucleotide variant not specified [RCV004310392] Chr16:85099195 [GRCh38]
Chr16:85132801 [GRCh37]
Chr16:16q24.1		 uncertain significance
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 16q23.3-24.3(chr16:83001540-90155062)x3 copy number gain See cases [RCV000512468] Chr16:83001540..90155062 [GRCh37]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh37/hg19 16q24.1(chr16:84914217-85276861)x1 copy number loss not provided [RCV000683853] Chr16:84914217..85276861 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3		 pathogenic
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 copy number gain not provided [RCV000683845] Chr16:79400436..90155062 [GRCh37]
Chr16:16q23.2-24.3		 pathogenic
GRCh37/hg19 16q24.1-24.2(chr16:84872102-87678641) copy number loss Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001004081] Chr16:84872102..87678641 [GRCh37]
Chr16:16q24.1-24.2		 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
NC_000016.10:g.(?_84593050)_(85516675_?)del deletion Schizophrenia [RCV000754198] Chr16:84593050..85516675 [GRCh38]
Chr16:16q24.1		 likely pathogenic
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) copy number gain not provided [RCV000767619] Chr16:82761333..90055381 [GRCh37]
Chr16:16q23.3-24.3		 pathogenic
GRCh37/hg19 16q24.1(chr16:84815936-86045285)x1 copy number loss not provided [RCV001006835] Chr16:84815936..86045285 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16q24.1(chr16:85103803-85242940)x3 copy number gain not provided [RCV000847098] Chr16:85103803..85242940 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16q24.1(chr16:85038804-85876297)x3 copy number gain not provided [RCV000847805] Chr16:85038804..85876297 [GRCh37]
Chr16:16q24.1		 uncertain significance
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
GRCh37/hg19 16q24.1(chr16:85103803-85242940)x3 copy number gain not provided [RCV000846321] Chr16:85103803..85242940 [GRCh37]
Chr16:16q24.1		 uncertain significance
Single allele deletion Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001251455] Chr16:83931797..86285776 [GRCh37]
Chr16:16q23.3-24.1		 likely pathogenic
GRCh37/hg19 16q23.3-24.1(chr16:83866931-85276940)x3 copy number gain not provided [RCV001258657] Chr16:83866931..85276940 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3 copy number gain not provided [RCV001795551] Chr16:80386595..90163348 [GRCh37]
Chr16:16q23.2-24.3		 pathogenic
GRCh37/hg19 16q23.3-24.1(chr16:84134463-85705611) copy number loss not specified [RCV002052556] Chr16:84134463..85705611 [GRCh37]
Chr16:16q23.3-24.1		 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
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3 copy number gain Syndromic anorectal malformation [RCV002286607] Chr16:71641395..90161959 [GRCh37]
Chr16:16q22.2-24.3		 likely pathogenic
NM_198491.3(CIBAR2):c.209G>A (p.Gly70Asp) single nucleotide variant not specified [RCV004280346] Chr16:85110272 [GRCh38]
Chr16:85143878 [GRCh37]
Chr16:16q24.1		 likely benign
NM_198491.3(CIBAR2):c.304G>A (p.Ala102Thr) single nucleotide variant not specified [RCV004274546] Chr16:85108051 [GRCh38]
Chr16:85141657 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.757A>G (p.Thr253Ala) single nucleotide variant not specified [RCV004264942] Chr16:85099343 [GRCh38]
Chr16:85132949 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.671A>T (p.Gln224Leu) single nucleotide variant not specified [RCV004271983] Chr16:85100221 [GRCh38]
Chr16:85133827 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.625A>G (p.Lys209Glu) single nucleotide variant not specified [RCV004272202] Chr16:85102240 [GRCh38]
Chr16:85135846 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.571G>T (p.Val191Phe) single nucleotide variant not specified [RCV004350571] Chr16:85102294 [GRCh38]
Chr16:85135900 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.880G>A (p.Gly294Ser) single nucleotide variant not specified [RCV004347845] Chr16:85099220 [GRCh38]
Chr16:85132826 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.116C>T (p.Thr39Met) single nucleotide variant not specified [RCV004334655] Chr16:85110365 [GRCh38]
Chr16:85143971 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16q24.1-24.2(chr16:84555718-87910245)x1 copy number loss not provided [RCV003483302] Chr16:84555718..87910245 [GRCh37]
Chr16:16q24.1-24.2		 pathogenic
NM_198491.3(CIBAR2):c.26G>T (p.Ser9Ile) single nucleotide variant not specified [RCV004441798] Chr16:85110455 [GRCh38]
Chr16:85144061 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.410C>T (p.Ser137Leu) single nucleotide variant not specified [RCV004441804] Chr16:85107862 [GRCh38]
Chr16:85141468 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.620T>G (p.Leu207Arg) single nucleotide variant not specified [RCV004441810] Chr16:85102245 [GRCh38]
Chr16:85135851 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.183C>A (p.Asn61Lys) single nucleotide variant not specified [RCV004441793] Chr16:85110298 [GRCh38]
Chr16:85143904 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.224T>C (p.Leu75Pro) single nucleotide variant not specified [RCV004441795] Chr16:85110257 [GRCh38]
Chr16:85143863 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.301G>A (p.Gly101Arg) single nucleotide variant not specified [RCV004441800] Chr16:85108054 [GRCh38]
Chr16:85141660 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.326C>G (p.Ala109Gly) single nucleotide variant not specified [RCV004441802] Chr16:85107946 [GRCh38]
Chr16:85141552 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.374T>G (p.Leu125Arg) single nucleotide variant not specified [RCV004441803] Chr16:85107898 [GRCh38]
Chr16:85141504 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.58A>G (p.Asn20Asp) single nucleotide variant not specified [RCV004441809] Chr16:85110423 [GRCh38]
Chr16:85144029 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.745G>A (p.Ala249Thr) single nucleotide variant not specified [RCV004441811] Chr16:85100147 [GRCh38]
Chr16:85133753 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.74T>A (p.Phe25Tyr) single nucleotide variant not specified [RCV004441812] Chr16:85110407 [GRCh38]
Chr16:85144013 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.781G>T (p.Ala261Ser) single nucleotide variant not specified [RCV004441814] Chr16:85099319 [GRCh38]
Chr16:85132925 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.908C>G (p.Ser303Cys) single nucleotide variant not specified [RCV004441816] Chr16:85099192 [GRCh38]
Chr16:85132798 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.110G>A (p.Arg37His) single nucleotide variant not specified [RCV004441791] Chr16:85110371 [GRCh38]
Chr16:85143977 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.122G>T (p.Arg41Leu) single nucleotide variant not specified [RCV004441792] Chr16:85110359 [GRCh38]
Chr16:85143965 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.272C>T (p.Thr91Ile) single nucleotide variant not specified [RCV004441799] Chr16:85108083 [GRCh38]
Chr16:85141689 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.539A>G (p.Lys180Arg) single nucleotide variant not specified [RCV004441807] Chr16:85102326 [GRCh38]
Chr16:85135932 [GRCh37]
Chr16:16q24.1		 likely benign
NM_198491.3(CIBAR2):c.416A>C (p.Gln139Pro) single nucleotide variant not specified [RCV004441805] Chr16:85107856 [GRCh38]
Chr16:85141462 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.802C>A (p.Pro268Thr) single nucleotide variant not specified [RCV004441815] Chr16:85099298 [GRCh38]
Chr16:85132904 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.95T>G (p.Leu32Arg) single nucleotide variant not specified [RCV004441817] Chr16:85110386 [GRCh38]
Chr16:85143992 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.187G>A (p.Glu63Lys) single nucleotide variant not specified [RCV004441794] Chr16:85110294 [GRCh38]
Chr16:85143900 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.473G>A (p.Arg158His) single nucleotide variant not specified [RCV004441806] Chr16:85105391 [GRCh38]
Chr16:85138997 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.562A>G (p.Ile188Val) single nucleotide variant not specified [RCV004441808] Chr16:85102303 [GRCh38]
Chr16:85135909 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.184C>T (p.Pro62Ser) single nucleotide variant CIBAR2-related condition [RCV003946824] Chr16:85110297 [GRCh38]
Chr16:85143903 [GRCh37]
Chr16:16q24.1		 likely benign
NM_198491.3(CIBAR2):c.713C>G (p.Thr238Ser) single nucleotide variant CIBAR2-related condition [RCV003921859] Chr16:85100179 [GRCh38]
Chr16:85133785 [GRCh37]
Chr16:16q24.1		 benign
NM_198491.3(CIBAR2):c.736C>T (p.Gln246Ter) single nucleotide variant CIBAR2-related condition [RCV003932179] Chr16:85100156 [GRCh38]
Chr16:85133762 [GRCh37]
Chr16:16q24.1		 likely benign
NM_198491.3(CIBAR2):c.633C>G (p.Asp211Glu) single nucleotide variant CIBAR2-related condition [RCV003927027] Chr16:85102232 [GRCh38]
Chr16:85135838 [GRCh37]
Chr16:16q24.1		 likely benign
NM_198491.3(CIBAR2):c.163G>A (p.Asp55Asn) single nucleotide variant CIBAR2-related condition [RCV003941913] Chr16:85110318 [GRCh38]
Chr16:85143924 [GRCh37]
Chr16:16q24.1		 likely benign
NM_198491.3(CIBAR2):c.10G>A (p.Val4Ile) single nucleotide variant not specified [RCV004441790] Chr16:85112343 [GRCh38]
Chr16:85145949 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.263G>A (p.Arg88Lys) single nucleotide variant not specified [RCV004441796] Chr16:85108092 [GRCh38]
Chr16:85141698 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_198491.3(CIBAR2):c.323G>A (p.Arg108Gln) single nucleotide variant not specified [RCV004441801] Chr16:85108032 [GRCh38]
Chr16:85141638 [GRCh37]
Chr16:16q24.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:356
Count of miRNA genes:310
Interacting mature miRNAs:330
Transcripts:ENST00000539556
Prediction methods: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.


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 adipose tissue appendage
High
Medium 1 240 5 368 1 28 199
Low 134 33 137 71 338 16 53 10 894 38 458 430 55 28 12
Below cutoff 1341 1492 816 298 723 201 2297 852 1610 175 670 638 100 865 1345

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000539556   ⟹   ENSP00000443411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1685,098,358 - 85,112,472 (-)Ensembl
RefSeq Acc Id: ENST00000618669   ⟹   ENSP00000478373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1685,098,370 - 85,108,071 (-)Ensembl
RefSeq Acc Id: ENST00000629253   ⟹   ENSP00000487117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1685,099,127 - 85,112,390 (-)Ensembl
RefSeq Acc Id: NM_001366920   ⟹   NP_001353849
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381685,098,358 - 85,112,472 (-)NCBI
T2T-CHM13v2.01691,164,997 - 91,179,113 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198491   ⟹   NP_940893
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381685,098,358 - 85,112,472 (-)NCBI
GRCh371685,131,964 - 85,146,114 (-)NCBI
Build 361683,689,466 - 83,703,615 (-)NCBI Archive
Celera1669,434,172 - 69,448,321 (-)RGD
HuRef1670,884,227 - 70,898,379 (-)ENTREZGENE
CHM1_11686,543,486 - 86,557,642 (-)NCBI
T2T-CHM13v2.01691,164,997 - 91,179,113 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523063   ⟹   XP_011521365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381685,098,358 - 85,112,472 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017023198   ⟹   XP_016878687
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381685,098,358 - 85,112,472 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054380215   ⟹   XP_054236190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01691,164,997 - 91,179,113 (-)NCBI
RefSeq Acc Id: XM_054380216   ⟹   XP_054236191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01691,164,997 - 91,179,113 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_940893   ⟸   NM_198491
- Peptide Label: isoform 1
- UniProtKB: A0A0D9SG36 (UniProtKB/Swiss-Prot),   Q6ZTR7 (UniProtKB/Swiss-Prot),   A0A1X7SC74 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011521365   ⟸   XM_011523063
- Peptide Label: isoform X1
- UniProtKB: A0A0D9SG36 (UniProtKB/Swiss-Prot),   Q6ZTR7 (UniProtKB/Swiss-Prot),   A0A1X7SC74 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016878687   ⟸   XM_017023198
- Peptide Label: isoform X2
- UniProtKB: Q6ZTR7 (UniProtKB/Swiss-Prot),   A0A0D9SG36 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001353849   ⟸   NM_001366920
- Peptide Label: isoform 2
- UniProtKB: Q6ZTR7 (UniProtKB/Swiss-Prot),   A0A0D9SG36 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000487117   ⟸   ENST00000629253
RefSeq Acc Id: ENSP00000443411   ⟸   ENST00000539556
RefSeq Acc Id: ENSP00000478373   ⟸   ENST00000618669
RefSeq Acc Id: XP_054236191   ⟸   XM_054380216
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054236190   ⟸   XM_054380215
- Peptide Label: isoform X1
- UniProtKB: A0A1X7SC74 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6ZTR7-F1-model_v2 AlphaFold Q6ZTR7 1-304 view protein structure

Promoters
RGD ID:7233039
Promoter ID:EPDNEW_H22265
Type:initiation region
Name:FAM92B_1
Description:family with sequence similarity 92 member B
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
GRCh381685,112,472 - 85,112,532EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24781 AgrOrtholog
COSMIC CIBAR2 COSMIC
Ensembl Genes ENSG00000153789 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000539556 ENTREZGENE
  ENST00000539556.6 UniProtKB/TrEMBL
  ENST00000618669.3 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1270.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000153789 GTEx
HGNC ID HGNC:24781 ENTREZGENE
Human Proteome Map CIBAR2 Human Proteome Map
InterPro AH/BAR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BAR_FAM92 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAM92 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:339145 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 339145 ENTREZGENE
OMIM 617274 OMIM
PANTHER CBY1-INTERACTING BAR DOMAIN-CONTAINING PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21223 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FAM92 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671826 PharmGKB
Superfamily-SCOP SSF103657 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WU51_HUMAN UniProtKB/TrEMBL
  A0A0D9SG36 ENTREZGENE
  A0A1X7SC74 ENTREZGENE, UniProtKB/TrEMBL
  FA92B_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0A0D9SG36 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-12-25 CIBAR2  CBY1 interacting BAR domain containing 2  FAM92B  family with sequence similarity 92 member B  Symbol and/or name change 5135510 APPROVED
2015-11-24 FAM92B  family with sequence similarity 92 member B    family with sequence similarity 92, member B  Symbol and/or name change 5135510 APPROVED