CIMIP2B (ciliary microtubule inner protein 2B) - Rat Genome Database

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Gene: CIMIP2B (ciliary microtubule inner protein 2B) Homo sapiens
Analyze
Symbol: CIMIP2B
Name: ciliary microtubule inner protein 2B
RGD ID: 2293907
HGNC Page HGNC:34242
Description: Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FAM166B; family with sequence similarity 166 member B; family with sequence similarity 166, member B; hypothetical protein LOC730112; MGC157846
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
GRCh38935,561,831 - 35,563,878 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl935,561,831 - 35,563,899 (-)EnsemblGRCh38hg38GRCh38
GRCh37935,561,828 - 35,563,875 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,551,946 - 35,553,896 (-)NCBINCBI36Build 36hg18NCBI36
Celera935,495,505 - 35,497,455 (-)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef935,517,450 - 35,519,507 (-)NCBIHuRef
CHM1_1935,561,615 - 35,563,684 (-)NCBICHM1_1
T2T-CHM13v2.0935,582,504 - 35,584,551 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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
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:29955039   PMID:32296183   PMID:33961781   PMID:36191189   PMID:37327785  


Genomics

Comparative Map Data
CIMIP2B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38935,561,831 - 35,563,878 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl935,561,831 - 35,563,899 (-)EnsemblGRCh38hg38GRCh38
GRCh37935,561,828 - 35,563,875 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,551,946 - 35,553,896 (-)NCBINCBI36Build 36hg18NCBI36
Celera935,495,505 - 35,497,455 (-)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef935,517,450 - 35,519,507 (-)NCBIHuRef
CHM1_1935,561,615 - 35,563,684 (-)NCBICHM1_1
T2T-CHM13v2.0935,582,504 - 35,584,551 (-)NCBIT2T-CHM13v2.0
Cimip2b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39443,427,014 - 43,431,451 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl443,427,019 - 43,429,134 (-)EnsemblGRCm39 Ensembl
GRCm38443,427,014 - 43,432,131 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl443,427,019 - 43,429,134 (-)EnsemblGRCm38mm10GRCm38
MGSCv37443,439,892 - 43,442,006 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36443,448,118 - 43,450,234 (-)NCBIMGSCv36mm8
Celera443,457,880 - 43,459,953 (-)NCBICelera
Cytogenetic Map4A5NCBI
cM Map423.03NCBI
Cimip2b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8562,471,246 - 62,477,812 (-)NCBIGRCr8
mRatBN7.2557,675,537 - 57,680,133 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl557,675,462 - 57,678,611 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0558,883,064 - 58,884,136 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0563,407,869 - 63,408,778 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera556,257,243 - 56,260,232 (-)NCBICelera
Cytogenetic Map5q22NCBI
Cimip2b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955472696,157 - 697,922 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955472695,955 - 698,086 (+)NCBIChiLan1.0ChiLan1.0
CIMIP2B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21188,983,565 - 89,027,436 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1988,988,509 - 89,033,356 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0935,411,930 - 35,442,971 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1936,216,030 - 36,247,009 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl936,216,030 - 36,260,042 (-)Ensemblpanpan1.1panPan2
CIMIP2B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11152,144,806 - 52,164,782 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1152,144,801 - 52,146,823 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1150,712,692 - 50,733,829 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01153,210,226 - 53,231,165 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1153,210,222 - 53,212,244 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11151,754,916 - 51,775,827 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01151,738,156 - 51,759,223 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01152,440,221 - 52,461,383 (-)NCBIUU_Cfam_GSD_1.0
Cimip2b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947167,046,919 - 167,049,481 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365243,594,552 - 3,596,371 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365243,594,530 - 3,597,055 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CIMIP2B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1236,322,897 - 236,324,981 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11236,322,893 - 236,325,008 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21264,047,558 - 264,050,843 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CIMIP2B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11244,991,633 - 45,041,573 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1245,039,593 - 45,041,415 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603842,147,571 - 42,151,282 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cimip2b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624915701,983 - 708,079 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CIMIP2B
31 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 copy number gain See cases [RCV000133829] Chr9:33225730..38529813 [GRCh38]
Chr9:33225728..38529810 [GRCh37]
Chr9:33215728..38519810 [NCBI36]
Chr9:9p13.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1 copy number loss See cases [RCV000134762] Chr9:33572681..36782015 [GRCh38]
Chr9:33572679..36782012 [GRCh37]
Chr9:33562679..36772012 [NCBI36]
Chr9:9p13.3-13.2		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1		 likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p13.3-13.1(chr9:35495055-39184042)x1 copy number loss not provided [RCV004577467] Chr9:35495055..39184042 [GRCh37]
Chr9:9p13.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 copy number gain See cases [RCV000510986] Chr9:17132123..35567051 [GRCh37]
Chr9:9p22.2-13.3		 pathogenic
NC_000009.11:g.(?_34458984)_(35809462_?)dup duplication Hyperphosphatasia with intellectual disability syndrome 2 [RCV000540114] Chr9:34458984..35809462 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
NC_000009.11:g.(?_34645556)_(36277059_?)dup duplication Anauxetic dysplasia [RCV000708053] Chr9:34645559..36277062 [GRCh38]
Chr9:34645556..36277059 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34458984)_(36277059_?)dup duplication Autosomal recessive distal spinal muscular atrophy 2 [RCV000708492] Chr9:34458984..36277059 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34458984)_(35809462_?)del deletion Hyperphosphatasia with intellectual disability syndrome 2 [RCV000708109] Chr9:34458984..35809462 [GRCh37]
Chr9:9p13.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1 copy number loss Neurodevelopmental disorder [RCV001580195] Chr9:35059633..37660586 [GRCh37]
Chr9:9p13.3-13.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3 copy number gain not provided [RCV000849826] Chr9:34542635..68210033 [GRCh37]
Chr9:9p13.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_001164310.3(CIMIP2B):c.*12_*13insTAAG insertion Meckel-Gruber syndrome [RCV001175206] Chr9:35561994..35561995 [GRCh38]
Chr9:35561991..35561992 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2		 likely pathogenic
NM_001164310.3(CIMIP2B):c.146C>G (p.Pro49Arg) single nucleotide variant not specified [RCV004610734] Chr9:35563306 [GRCh38]
Chr9:35563303 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001164310.3(CIMIP2B):c.502T>A (p.Tyr168Asn) single nucleotide variant not specified [RCV004610735] Chr9:35562691 [GRCh38]
Chr9:35562688 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34459004)_(36276941_?)del deletion Hyperphosphatasia with intellectual disability syndrome 2 [RCV001382817] Chr9:34459004..36276941 [GRCh37]
Chr9:9p13.3		 pathogenic
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NC_000009.11:g.(?_32453279)_(37785041_?)dup duplication Acromesomelic dysplasia 1, Maroteaux type [RCV003109230]|Arthrogryposis, distal, type 1A [RCV003119438]|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV003119437]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109231]|Primary ciliary dyskinesia [RCV003119439]|not provided [RCV003154083] Chr9:32453279..37785041 [GRCh37]
Chr9:9p21.1-13.2		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
NC_000009.11:g.(?_34459004)_(36276941_?)dup duplication Hyperphosphatasia with intellectual disability syndrome 2 [RCV001933515] Chr9:34459004..36276941 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34370797)_(36276941_?)dup duplication Anauxetic dysplasia [RCV003114124] Chr9:34370797..36276941 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1		 likely pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_001164310.3(CIMIP2B):c.5C>T (p.Ala2Val) single nucleotide variant not specified [RCV004552261] Chr9:35563824 [GRCh38]
Chr9:35563821 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001164310.3(CIMIP2B):c.26C>T (p.Pro9Leu) single nucleotide variant not specified [RCV004552301] Chr9:35563803 [GRCh38]
Chr9:35563800 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001164310.3(CIMIP2B):c.287G>T (p.Gly96Val) single nucleotide variant not specified [RCV004552228] Chr9:35563080 [GRCh38]
Chr9:35563077 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001164310.3(CIMIP2B):c.449C>T (p.Pro150Leu) single nucleotide variant not specified [RCV004553856] Chr9:35562918 [GRCh38]
Chr9:35562915 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001164310.3(CIMIP2B):c.298C>T (p.Arg100Trp) single nucleotide variant not specified [RCV004553965] Chr9:35563069 [GRCh38]
Chr9:35563066 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001164310.3(CIMIP2B):c.524C>T (p.Pro175Leu) single nucleotide variant not specified [RCV004552219] Chr9:35562669 [GRCh38]
Chr9:35562666 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001164310.3(CIMIP2B):c.656A>G (p.Gln219Arg) single nucleotide variant not specified [RCV004553912] Chr9:35562463 [GRCh38]
Chr9:35562460 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001164310.3(CIMIP2B):c.305A>C (p.Gln102Pro) single nucleotide variant not specified [RCV004553941] Chr9:35563062 [GRCh38]
Chr9:35563059 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001164310.3(CIMIP2B):c.173G>A (p.Arg58His) single nucleotide variant not specified [RCV004550488] Chr9:35563279 [GRCh38]
Chr9:35563276 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001164310.3(CIMIP2B):c.583G>A (p.Gly195Ser) single nucleotide variant not specified [RCV004554061] Chr9:35562536 [GRCh38]
Chr9:35562533 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001164310.3(CIMIP2B):c.721T>C (p.Tyr241His) single nucleotide variant not specified [RCV004554078] Chr9:35562398 [GRCh38]
Chr9:35562395 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001164310.3(CIMIP2B):c.649A>G (p.Ser217Gly) single nucleotide variant not specified [RCV004548497] Chr9:35562470 [GRCh38]
Chr9:35562467 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_014806.5(RUSC2):c.3983G>A (p.Cys1328Tyr) single nucleotide variant Stuve-Wiedemann syndrome 2 [RCV003319482]|not provided [RCV001880635] Chr9:35560623 [GRCh38]
Chr9:35560620 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1 copy number loss not specified [RCV003986844] Chr9:35440393..38787480 [GRCh37]
Chr9:9p13.3-13.1		 likely pathogenic
NM_001164310.3(CIMIP2B):c.137G>A (p.Arg46Gln) single nucleotide variant not specified [RCV004551049] Chr9:35563315 [GRCh38]
Chr9:35563312 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001164310.3(CIMIP2B):c.364C>T (p.His122Tyr) single nucleotide variant not specified [RCV004551056] Chr9:35563003 [GRCh38]
Chr9:35563000 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001164310.3(CIMIP2B):c.538A>T (p.Met180Leu) single nucleotide variant not specified [RCV004551059] Chr9:35562655 [GRCh38]
Chr9:35562652 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001164310.3(CIMIP2B):c.733G>A (p.Val245Met) single nucleotide variant not specified [RCV004551063] Chr9:35562386 [GRCh38]
Chr9:35562383 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001164310.3(CIMIP2B):c.97G>A (p.Val33Met) single nucleotide variant not specified [RCV004551064] Chr9:35563355 [GRCh38]
Chr9:35563352 [GRCh37]
Chr9:9p13.3		 likely benign
NM_001164310.3(CIMIP2B):c.292G>A (p.Val98Ile) single nucleotide variant not specified [RCV004551054] Chr9:35563075 [GRCh38]
Chr9:35563072 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001164310.3(CIMIP2B):c.110A>G (p.Tyr37Cys) single nucleotide variant not specified [RCV004551048] Chr9:35563342 [GRCh38]
Chr9:35563339 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001164310.3(CIMIP2B):c.172C>T (p.Arg58Cys) single nucleotide variant not specified [RCV004551050] Chr9:35563280 [GRCh38]
Chr9:35563277 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001164310.3(CIMIP2B):c.226A>G (p.Ser76Gly) single nucleotide variant not specified [RCV004551051] Chr9:35563226 [GRCh38]
Chr9:35563223 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001164310.3(CIMIP2B):c.354T>A (p.Ser118Arg) single nucleotide variant not specified [RCV004551055] Chr9:35563013 [GRCh38]
Chr9:35563010 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001164310.3(CIMIP2B):c.43A>G (p.Asn15Asp) single nucleotide variant not specified [RCV004551057] Chr9:35563786 [GRCh38]
Chr9:35563783 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001164310.3(CIMIP2B):c.527G>A (p.Arg176Gln) single nucleotide variant not specified [RCV004551058] Chr9:35562666 [GRCh38]
Chr9:35562663 [GRCh37]
Chr9:9p13.3		 likely benign
NM_001164310.3(CIMIP2B):c.568G>A (p.Ala190Thr) single nucleotide variant not specified [RCV004610733] Chr9:35562551 [GRCh38]
Chr9:35562548 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001164310.3(CIMIP2B):c.241C>T (p.Arg81Cys) single nucleotide variant not specified [RCV004551053] Chr9:35563211 [GRCh38]
Chr9:35563208 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001164310.3(CIMIP2B):c.560T>C (p.Val187Ala) single nucleotide variant not specified [RCV004551060] Chr9:35562559 [GRCh38]
Chr9:35562556 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001164310.3(CIMIP2B):c.615A>G (p.Ala205=) single nucleotide variant not specified [RCV004551061] Chr9:35562504 [GRCh38]
Chr9:35562501 [GRCh37]
Chr9:9p13.3		 likely benign
NC_000009.11:g.(?_33436037)_(37436779_?)del deletion Spastic paraplegia [RCV004581844] Chr9:33436037..37436779 [GRCh37]
Chr9:9p13.3-13.2		 pathogenic
NC_000009.11:g.(?_32453279)_(36276941_?)dup duplication not provided [RCV004582073] Chr9:32453279..36276941 [GRCh37]
Chr9:9p21.1-13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1421
Count of miRNA genes:551
Interacting mature miRNAs:609
Transcripts:ENST00000399742, ENST00000447837, ENST00000478246, ENST00000480287, ENST00000492890
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
WI-14686  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,561,717 - 35,561,841UniSTSGRCh37
Build 36935,551,717 - 35,551,841RGDNCBI36
Celera935,495,276 - 35,495,400RGD
Cytogenetic Map9p13.3UniSTS
HuRef935,517,340 - 35,517,464UniSTS
Whitehead-RH Map9151.5UniSTS
HSC03D022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,561,688 - 35,561,889UniSTSGRCh37
Build 36935,551,688 - 35,551,889RGDNCBI36
Celera935,495,247 - 35,495,448RGD
Cytogenetic Map9p13.3UniSTS
HuRef935,517,311 - 35,517,512UniSTS
GeneMap99-GB4 RH Map9157.09UniSTS
Whitehead-RH Map9147.3UniSTS
NCBI RH Map9522.7UniSTS


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
renal system
reproductive system
respiratory system
sensory system
1204 2425 2788 2239 4940 1722 2339 4 622 1749 464 2258 7079 6259 50 3714 846 1728 1607 171

Sequence


Ensembl Acc Id: ENST00000399742   ⟹   ENSP00000382646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,561,831 - 35,563,878 (-)Ensembl
Ensembl Acc Id: ENST00000447837   ⟹   ENSP00000412746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,561,949 - 35,563,899 (-)Ensembl
Ensembl Acc Id: ENST00000478246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,562,157 - 35,562,957 (-)Ensembl
Ensembl Acc Id: ENST00000480287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,561,835 - 35,563,047 (-)Ensembl
Ensembl Acc Id: ENST00000492890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,561,831 - 35,563,874 (-)Ensembl
Ensembl Acc Id: ENST00000619051   ⟹   ENSP00000480923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,561,832 - 35,563,899 (-)Ensembl
RefSeq Acc Id: NM_001099951   ⟹   NP_001093421
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,561,831 - 35,563,878 (-)NCBI
GRCh37935,561,827 - 35,563,896 (-)ENTREZGENE
GRCh37935,561,827 - 35,563,896 (-)NCBI
Build 36935,551,946 - 35,553,896 (-)NCBI Archive
Celera935,495,505 - 35,497,455 (-)RGD
HuRef935,517,450 - 35,519,507 (-)ENTREZGENE
CHM1_1935,561,615 - 35,563,684 (-)NCBI
T2T-CHM13v2.0935,582,504 - 35,584,551 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001164310   ⟹   NP_001157782
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,561,831 - 35,563,878 (-)NCBI
GRCh37935,561,827 - 35,563,896 (-)ENTREZGENE
HuRef935,517,450 - 35,519,507 (-)ENTREZGENE
CHM1_1935,561,615 - 35,563,684 (-)NCBI
T2T-CHM13v2.0935,582,504 - 35,584,551 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001287238   ⟹   NP_001274167
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,561,831 - 35,563,878 (-)NCBI
HuRef935,517,450 - 35,519,507 (-)NCBI
CHM1_1935,561,615 - 35,563,684 (-)NCBI
T2T-CHM13v2.0935,582,504 - 35,584,551 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001287239   ⟹   NP_001274168
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,561,831 - 35,563,878 (-)NCBI
HuRef935,517,450 - 35,519,507 (-)NCBI
CHM1_1935,561,615 - 35,563,684 (-)NCBI
T2T-CHM13v2.0935,582,504 - 35,584,551 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518028   ⟹   XP_011516330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,561,831 - 35,563,878 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054363742   ⟹   XP_054219717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,582,504 - 35,584,551 (-)NCBI
RefSeq Acc Id: NP_001093421   ⟸   NM_001099951
- Peptide Label: isoform 2
- UniProtKB: A8MTA8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001157782   ⟸   NM_001164310
- Peptide Label: isoform 1
- UniProtKB: A1L3B2 (UniProtKB/Swiss-Prot),   B7ZBJ0 (UniProtKB/Swiss-Prot),   A8MTA8 (UniProtKB/Swiss-Prot),   B7ZW26 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001274168   ⟸   NM_001287239
- Peptide Label: isoform 4
- UniProtKB: A0A8V8TLC2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001274167   ⟸   NM_001287238
- Peptide Label: isoform 3
- UniProtKB: B7ZW26 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011516330   ⟸   XM_011518028
- Peptide Label: isoform X1
- UniProtKB: A0A8V8TLC2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000382646   ⟸   ENST00000399742
Ensembl Acc Id: ENSP00000412746   ⟸   ENST00000447837
Ensembl Acc Id: ENSP00000480923   ⟸   ENST00000619051
RefSeq Acc Id: XP_054219717   ⟸   XM_054363742
- Peptide Label: isoform X1
- UniProtKB: A0A8V8TLC2 (UniProtKB/TrEMBL)
Protein Domains
Ciliary microtubule inner protein 2A-C-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A8MTA8-F1-model_v2 AlphaFold A8MTA8 1-275 view protein structure

Promoters
RGD ID:6816600
Promoter ID:HG_SPT:61813
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AA441812,   AA576476,   AI016405,   AI292343,   AI383111,   AI393723,   AI423515,   AI932283,   CA315062,   CA449961,   CB241755
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,551,151 - 35,551,651 (+)MPROMDB
RGD ID:7214999
Promoter ID:EPDNEW_H13245
Type:initiation region
Name:FAM166B_2
Description:family with sequence similarity 166 member B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13246  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,563,878 - 35,563,938EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:34242 AgrOrtholog
COSMIC CIMIP2B COSMIC
Ensembl Genes ENSG00000215187 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000399742 ENTREZGENE
  ENST00000399742.7 UniProtKB/Swiss-Prot
  ENST00000447837 ENTREZGENE
  ENST00000447837.1 UniProtKB/Swiss-Prot
  ENST00000492890 ENTREZGENE
  ENST00000492890.5 UniProtKB/TrEMBL
GTEx ENSG00000215187 GTEx
HGNC ID HGNC:34242 ENTREZGENE
Human Proteome Map CIMIP2B Human Proteome Map
InterPro FAM166/UPF0605 UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
KEGG Report hsa:730112 UniProtKB/Swiss-Prot
NCBI Gene 730112 ENTREZGENE
PANTHER CAT EYE SYNDROME CRITICAL REGION PROTEIN 6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN FAM166B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF2475 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162387040 PharmGKB
UniProt A0A8V8TLC2 ENTREZGENE, UniProtKB/TrEMBL
  A1L3B2 ENTREZGENE
  A8MTA8 ENTREZGENE
  B7ZBJ0 ENTREZGENE
  B7ZW26 ENTREZGENE, UniProtKB/TrEMBL
  B7ZW33_HUMAN UniProtKB/TrEMBL
  F166B_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A1L3B2 UniProtKB/Swiss-Prot
  B7ZBJ0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-05-01 CIMIP2B  ciliary microtubule inner protein 2B  FAM166B  family with sequence similarity 166 member B  Symbol and/or name change 19259463 PROVISIONAL
2015-11-24 FAM166B  family with sequence similarity 166 member B    family with sequence similarity 166, member B  Symbol and/or name change 5135510 APPROVED