FOXL2 (forkhead box L2) - Rat Genome Database

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Gene: FOXL2 (forkhead box L2) Homo sapiens
Analyze
Symbol: FOXL2
Name: forkhead box L2
RGD ID: 1320713
HGNC Page HGNC
Description: Enables cysteine-type endopeptidase regulator activity involved in apoptotic process; sequence-specific double-stranded DNA binding activity; and ubiquitin conjugating enzyme binding activity. Involved in several processes, including apoptotic DNA fragmentation; extraocular skeletal muscle development; and positive regulation of cysteine-type endopeptidase activity involved in apoptotic process. Located in Flemming body and nucleoplasm. Implicated in blepharophimosis, ptosis, and epicanthus inversus syndrome and primary ovarian insufficiency 3.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BPES; BPES1; forkhead box protein L2; forkhead transcription factor FOXL2; PFRK; PINTO; POF3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3138,944,224 - 138,947,137 (-)EnsemblGRCh38hg38GRCh38
GRCh383138,944,224 - 138,947,137 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh373138,663,066 - 138,665,979 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363140,145,756 - 140,148,491 (-)NCBINCBI36hg18NCBI36
Build 343140,145,765 - 140,148,499NCBI
Celera3137,089,495 - 137,092,452 (-)NCBI
Cytogenetic Map3q22.3NCBI
HuRef3136,038,560 - 136,041,476 (-)NCBIHuRef
CHM1_13138,627,041 - 138,629,957 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISA)
Flemming body  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IDA)

References

Additional References at PubMed
PMID:1941972   PMID:10036183   PMID:10702024   PMID:11468277   PMID:11474656   PMID:11776388   PMID:11910558   PMID:11960581   PMID:12149404   PMID:12161610   PMID:12400065   PMID:12471206  
PMID:12477932   PMID:12529855   PMID:12560069   PMID:12567411   PMID:12630957   PMID:12938087   PMID:15081106   PMID:15181179   PMID:15257268   PMID:15300845   PMID:15489334   PMID:15591279  
PMID:15962237   PMID:16086270   PMID:16131596   PMID:16153597   PMID:16219626   PMID:16283882   PMID:16394030   PMID:16720712   PMID:16814186   PMID:17089161   PMID:17277738   PMID:17393695  
PMID:17897532   PMID:17968144   PMID:18028747   PMID:18158309   PMID:18372316   PMID:18484667   PMID:18635577   PMID:18642388   PMID:18721930   PMID:18726931   PMID:19010791   PMID:19106105  
PMID:19274049   PMID:19322201   PMID:19324968   PMID:19371227   PMID:19515849   PMID:19516027   PMID:19543368   PMID:19592504   PMID:19706741   PMID:19744555   PMID:19797124   PMID:19917504  
PMID:19929410   PMID:19956657   PMID:19969293   PMID:19996294   PMID:20098707   PMID:20184535   PMID:20198651   PMID:20207836   PMID:20209145   PMID:20222838   PMID:20232352   PMID:20233786  
PMID:20236120   PMID:20301614   PMID:20407010   PMID:20448577   PMID:20459545   PMID:20693978   PMID:20711176   PMID:20734064   PMID:21051974   PMID:21055199   PMID:21068205   PMID:21119601  
PMID:21146150   PMID:21188138   PMID:21271216   PMID:21289058   PMID:21293260   PMID:21321671   PMID:21325395   PMID:21378549   PMID:21478824   PMID:21623383   PMID:21632871   PMID:21640373  
PMID:21682576   PMID:21763750   PMID:21862621   PMID:21873635   PMID:22022399   PMID:22164424   PMID:22171663   PMID:22200085   PMID:22296244   PMID:22312189   PMID:22336067   PMID:22544055  
PMID:22742556   PMID:22797072   PMID:22926839   PMID:23029457   PMID:23044875   PMID:23051594   PMID:23084143   PMID:23348906   PMID:23426431   PMID:23441113   PMID:23516377   PMID:23523567  
PMID:23567549   PMID:23774170   PMID:24007948   PMID:24076780   PMID:24099863   PMID:24138090   PMID:24157616   PMID:24162774   PMID:24192202   PMID:24240106   PMID:24257635   PMID:24265544  
PMID:24332943   PMID:24342437   PMID:24390485   PMID:24416423   PMID:24520083   PMID:24620032   PMID:24689977   PMID:24746205   PMID:24817949   PMID:25032695   PMID:25317675   PMID:25369636  
PMID:25416281   PMID:25581731   PMID:25609649   PMID:25871347   PMID:25884336   PMID:26033501   PMID:26100530   PMID:26200099   PMID:26323275   PMID:26598979   PMID:27283035   PMID:27414805  
PMID:27604691   PMID:27648785   PMID:27798098   PMID:27813081   PMID:27830327   PMID:27914838   PMID:28119367   PMID:28272677   PMID:28319575   PMID:28473536   PMID:28594898   PMID:28604951  
PMID:28660501   PMID:28677787   PMID:28849110   PMID:28924383   PMID:29339661   PMID:29378385   PMID:29471425   PMID:29481440   PMID:29505555   PMID:29916099   PMID:30029625   PMID:30098246  
PMID:30234390   PMID:30365048   PMID:30804502   PMID:30986800   PMID:31077882   PMID:31366388   PMID:31376461   PMID:31637660   PMID:31823134   PMID:32048611   PMID:32332759   PMID:32454486  
PMID:32517588   PMID:32641411   PMID:32641414   PMID:32814714   PMID:32910017   PMID:33215742   PMID:33796131  


Genomics

Comparative Map Data
FOXL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3138,944,224 - 138,947,137 (-)EnsemblGRCh38hg38GRCh38
GRCh383138,944,224 - 138,947,137 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh373138,663,066 - 138,665,979 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363140,145,756 - 140,148,491 (-)NCBINCBI36hg18NCBI36
Build 343140,145,765 - 140,148,499NCBI
Celera3137,089,495 - 137,092,452 (-)NCBI
Cytogenetic Map3q22.3NCBI
HuRef3136,038,560 - 136,041,476 (-)NCBIHuRef
CHM1_13138,627,041 - 138,629,957 (-)NCBICHM1_1
Foxl2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39998,837,660 - 98,840,179 (+)NCBIGRCm39mm39
GRCm39 Ensembl998,837,341 - 98,840,596 (+)Ensembl
GRCm38998,955,607 - 98,958,126 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl998,955,288 - 98,958,543 (+)EnsemblGRCm38mm10GRCm38
MGSCv37998,856,026 - 98,858,545 (+)NCBIGRCm37mm9NCBIm37
MGSCv36998,765,013 - 98,766,140 (+)NCBImm8
Celera998,493,332 - 98,496,090 (+)NCBICelera
Cytogenetic Map9E3.3NCBI
Foxl2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2899,512,971 - 99,514,500 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl8107,194,551 - 107,195,675 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.08107,194,492 - 107,197,644 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.08106,618,909 - 106,622,004 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48103,804,019 - 103,805,239 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.18103,818,892 - 103,825,932 (+)NCBI
Celera898,919,088 - 98,922,240 (+)NCBICelera
Cytogenetic Map8q31NCBI
Foxl2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495550183,965 - 84,476 (+)NCBIChiLan1.0ChiLan1.0
FOXL2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13143,568,268 - 143,577,397 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v03135,968,040 - 135,980,063 (-)NCBIMhudiblu_PPA_v0panPan3
FOXL2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12335,145,856 - 35,147,185 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2335,138,304 - 35,139,560 (-)NCBI
ROS_Cfam_1.02335,688,052 - 35,689,311 (-)NCBI
UMICH_Zoey_3.12335,368,849 - 35,370,105 (-)NCBI
UNSW_CanFamBas_1.02335,433,498 - 35,434,751 (-)NCBI
UU_Cfam_GSD_1.02335,684,283 - 35,685,539 (-)NCBI
Foxl2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560274,396,620 - 74,398,797 (-)NCBI
SpeTri2.0NW_0049365401,136,403 - 1,137,984 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FOXL2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1379,709,013 - 79,709,825 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11379,708,693 - 79,709,825 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21387,350,661 - 87,351,794 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FOXL2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11551,595,806 - 51,598,124 (+)NCBI
ChlSab1.1 Ensembl1551,596,218 - 51,597,348 (+)Ensembl
Vero_WHO_p1.0NW_02366604124,582,612 - 24,585,160 (+)NCBI
Foxl2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473015,489,261 - 15,492,645 (-)NCBI

Position Markers
FOXL2_1880.3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373138,662,967 - 138,663,714UniSTSGRCh37
Build 363140,145,657 - 140,146,404RGDNCBI36
Celera3137,089,396 - 137,090,143RGD
HuRef3136,038,461 - 136,039,208UniSTS
RH47988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373138,663,170 - 138,663,324UniSTSGRCh37
Build 363140,145,860 - 140,146,014RGDNCBI36
Celera3137,089,599 - 137,089,753RGD
Cytogenetic Map3q23UniSTS
HuRef3136,038,664 - 136,038,818UniSTS
GeneMap99-GB4 RH Map3498.11UniSTS
NCBI RH Map31206.4UniSTS
UniSTS:463206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373138,665,183 - 138,665,564UniSTSGRCh37
Build 363140,147,873 - 140,148,254RGDNCBI36
Celera3137,091,653 - 137,092,034RGD
HuRef3136,040,677 - 136,041,058UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:639
Count of miRNA genes:483
Interacting mature miRNAs:525
Transcripts:ENST00000330315
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 visual system adipose tissue appendage entire extraembryonic component
High
Medium 10 240 2 3 2 9 3 239 7 316 32 3
Low 33 22 309 6 24 7 246 21 1003 27 785 130 6 1 21 38 1
Below cutoff 1328 1703 637 186 437 95 2903 1301 2146 110 271 871 92 725 1906 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_029796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_023067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC092947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF301906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI089172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY331134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF512713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF515406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX095729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ016593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ016608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ016609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ089670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ089671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ089672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ598614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ598615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR030055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW507568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW507569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW507570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW507571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW507572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW507573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW507574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW507575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW507576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW507577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW507578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW507579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW507580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW507581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW507582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000648323   ⟹   ENSP00000497217
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3138,944,224 - 138,947,137 (-)Ensembl
RefSeq Acc Id: NM_023067   ⟹   NP_075555
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383138,944,224 - 138,947,137 (-)NCBI
GRCh373138,663,066 - 138,665,982 (-)ENTREZGENE
Build 363140,145,756 - 140,148,491 (-)NCBI Archive
HuRef3136,038,560 - 136,041,476 (-)ENTREZGENE
CHM1_13138,627,041 - 138,629,957 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_075555   ⟸   NM_023067
- UniProtKB: P58012 (UniProtKB/Swiss-Prot),   Q53ZD3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000497217   ⟸   ENST00000648323
Protein Domains
Fork-head

Promoters
RGD ID:6801891
Promoter ID:HG_KWN:46328
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_023067,   UC003ESV.1,   UC003ESW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363140,145,301 - 140,145,801 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_023067.4(FOXL2):c.53_54del (p.Pro18fs) deletion Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 [RCV000005129] Chr3:138946669..138946670 [GRCh38]
Chr3:138665511..138665512 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.912_919dup (p.Pro307fs) duplication Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 [RCV000005130] Chr3:138945803..138945804 [GRCh38]
Chr3:138664645..138664646 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.178_192dup (p.Val60_Ala64dup) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000785831]|Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 [RCV000005131] Chr3:138946530..138946531 [GRCh38]
Chr3:138665372..138665373 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic
NM_023067.4(FOXL2):c.804dup (p.Gly269fs) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000192036]|Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 [RCV000005133]|Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 [RCV000005132]|not provided [RCV000727228] Chr3:138945918..138945919 [GRCh38]
Chr3:138664760..138664761 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.855_871del (p.Pro287fs) deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000192041]|Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 [RCV000005134] Chr3:138945852..138945868 [GRCh38]
Chr3:138664694..138664710 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.3(FOXL2):c.684684AGCTGCGGCTGCAGC[3] (p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) microsatellite Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 [RCV000005138] Chr3:138946024..138946025 [GRCh38]
Chr3:138664867 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.855_871dup (p.His291fs) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000192040]|Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 [RCV000005142]|not provided [RCV000599160] Chr3:138945851..138945852 [GRCh38]
Chr3:138664693..138664694 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.959dup (p.Gln321fs) duplication Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 [RCV000005143] Chr3:138945763..138945764 [GRCh38]
Chr3:138664605..138664606 [GRCh37]
Chr3:3q22.3
pathogenic
FOXL2, 30-BP DEL, NT898 deletion Premature ovarian failure 3 [RCV000005144] Chr3:3q23 pathogenic
FOXL2, 15-BP DUP, NT684 duplication Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 [RCV000005146] Chr3:3q23 pathogenic
NM_023067.4(FOXL2):c.205G>A (p.Glu69Lys) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 [RCV000023464] Chr3:138946518 [GRCh38]
Chr3:138665360 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.655C>T (p.Gln219Ter) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000192033]|Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 [RCV000005126] Chr3:138946068 [GRCh38]
Chr3:138664910 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.672_701dup (p.Ala225_Ala234dup) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000408801]|Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 [RCV000005127]|Blepharophimosis, ptosis, and epicanthus inversus, type II with Duane retraction syndrome [RCV000005128] Chr3:138946021..138946022 [GRCh38]
Chr3:138664863..138664864 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.157C>T (p.Gln53Ter) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 [RCV000005135]|not provided [RCV000760402] Chr3:138946566 [GRCh38]
Chr3:138665408 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.822C>G (p.Tyr274Ter) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 [RCV000005136]|Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 [RCV000005137] Chr3:138945901 [GRCh38]
Chr3:138664743 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.251T>G (p.Ile84Ser) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 [RCV000005139] Chr3:138946472 [GRCh38]
Chr3:138665314 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.295C>T (p.Gln99Ter) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 [RCV000005140] Chr3:138946428 [GRCh38]
Chr3:138665270 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.586C>T (p.Gln196Ter) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000005141] Chr3:138946137 [GRCh38]
Chr3:138664979 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.772T>A (p.Tyr258Asn) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000987342]|Premature ovarian failure 3 [RCV000005145] Chr3:138945951 [GRCh38]
Chr3:138664793 [GRCh37]
Chr3:3q22.3
pathogenic|uncertain significance
NM_023067.4(FOXL2):c.560G>A (p.Gly187Asp) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000192031]|Premature ovarian failure 3 [RCV000005147] Chr3:138946163 [GRCh38]
Chr3:138665005 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic
GRCh38/hg38 3q22.3(chr3:138946408-138948348)x1 copy number loss See cases [RCV000050691] Chr3:138946408..138948348 [GRCh38]
Chr3:138665250..138667190 [GRCh37]
Chr3:140147940..140149880 [NCBI36]
Chr3:3q22.3
pathogenic
GRCh38/hg38 3q22.1-23(chr3:132690641-141064444)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051570]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051570]|See cases [RCV000051570] Chr3:132690641..141064444 [GRCh38]
Chr3:132409485..140783286 [GRCh37]
Chr3:133892175..142265976 [NCBI36]
Chr3:3q22.1-23
pathogenic
GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1 copy number loss See cases [RCV000051572] Chr3:135227451..145870770 [GRCh38]
Chr3:134946293..145588557 [GRCh37]
Chr3:136428983..147071247 [NCBI36]
Chr3:3q22.2-24
pathogenic
GRCh38/hg38 3q22.3(chr3:138945182-138946841)x1 copy number loss See cases [RCV000051573] Chr3:138945182..138946841 [GRCh38]
Chr3:138664024..138665683 [GRCh37]
Chr3:140146714..140148373 [NCBI36]
Chr3:3q22.3
pathogenic
GRCh38/hg38 3q22.3-23(chr3:138296035-139015548)x3 copy number gain See cases [RCV000051535] Chr3:138296035..139015548 [GRCh38]
Chr3:138014877..138734390 [GRCh37]
Chr3:139497567..140217080 [NCBI36]
Chr3:3q22.3-23
uncertain significance
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
NM_023067.4(FOXL2):c.1045C>G (p.Arg349Gly) single nucleotide variant not specified [RCV000121136] Chr3:138945678 [GRCh38]
Chr3:138664520 [GRCh37]
Chr3:3q22.3
not provided
NM_023067.4(FOXL2):c.142_173delinsGCGCT (p.Lys48_Ser58delinsAlaLeu) indel Blepharophimosis, ptosis, and epicanthus inversus [RCV000149460] Chr3:138946550..138946581 [GRCh38]
Chr3:138665392..138665423 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.965_983dup (p.Thr329fs) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000149461] Chr3:138945739..138945740 [GRCh38]
Chr3:138664581..138664582 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000149462] Chr3:138945863..138945864 [GRCh38]
Chr3:138664705..138664706 [GRCh37]
Chr3:3q22.3
pathogenic
GRCh37/hg19 3q22.2-23(chr3:135186881-140826836)x3 copy number gain not provided [RCV000846949] Chr3:135186881..140826836 [GRCh37]
Chr3:3q22.2-23
uncertain significance
GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1 copy number loss See cases [RCV000134711] Chr3:137932000..144468739 [GRCh38]
Chr3:137650842..144187581 [GRCh37]
Chr3:139133532..145670271 [NCBI36]
Chr3:3q22.3-24
pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1 copy number loss See cases [RCV000136558] Chr3:129817243..143381624 [GRCh38]
Chr3:129536086..143100466 [GRCh37]
Chr3:131018776..144583156 [NCBI36]
Chr3:3q22.1-24
pathogenic
GRCh38/hg38 3q22.3-23(chr3:138629115-140055056)x3 copy number gain See cases [RCV000136768] Chr3:138629115..140055056 [GRCh38]
Chr3:138347957..139773898 [GRCh37]
Chr3:139830647..141256588 [NCBI36]
Chr3:3q22.3-23
pathogenic
GRCh38/hg38 3q22.3-23(chr3:138529348-139056446)x3 copy number gain See cases [RCV000138018] Chr3:138529348..139056446 [GRCh38]
Chr3:138248190..138775288 [GRCh37]
Chr3:139730880..140257978 [NCBI36]
Chr3:3q22.3-23
uncertain significance
GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1 copy number loss See cases [RCV000138135] Chr3:134257180..149729538 [GRCh38]
Chr3:133976022..149447325 [GRCh37]
Chr3:135458712..150930015 [NCBI36]
Chr3:3q22.2-25.1
pathogenic|likely benign
GRCh38/hg38 3q22.3-23(chr3:138529348-139130105)x3 copy number gain See cases [RCV000137779] Chr3:138529348..139130105 [GRCh38]
Chr3:138248190..138848947 [GRCh37]
Chr3:139730880..140331637 [NCBI36]
Chr3:3q22.3-23
uncertain significance
GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1 copy number loss See cases [RCV000139240] Chr3:130401265..139005019 [GRCh38]
Chr3:130120109..138723861 [GRCh37]
Chr3:131602799..140206551 [NCBI36]
Chr3:3q22.1-23
pathogenic
GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1 copy number loss See cases [RCV000139135] Chr3:137991123..143618786 [GRCh38]
Chr3:137709965..143337628 [GRCh37]
Chr3:139192655..144820318 [NCBI36]
Chr3:3q22.3-24
pathogenic
GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1 copy number loss See cases [RCV000140453] Chr3:134333553..141701458 [GRCh38]
Chr3:134052395..141420300 [GRCh37]
Chr3:135535085..142902990 [NCBI36]
Chr3:3q22.2-23
pathogenic
GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1 copy number loss See cases [RCV000140995] Chr3:129817243..141425155 [GRCh38]
Chr3:129536086..141143997 [GRCh37]
Chr3:131018776..142626687 [NCBI36]
Chr3:3q22.1-23
pathogenic
GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3 copy number gain See cases [RCV000142010] Chr3:126106779..140918089 [GRCh38]
Chr3:125825622..140636931 [GRCh37]
Chr3:127308312..142119621 [NCBI36]
Chr3:3q21.3-23
uncertain significance
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24
pathogenic
GRCh38/hg38 3q22.3-23(chr3:138468173-139001141)x3 copy number gain See cases [RCV000143680] Chr3:138468173..139001141 [GRCh38]
Chr3:138187015..138719983 [GRCh37]
Chr3:139669705..140202673 [NCBI36]
Chr3:3q22.3-23
likely benign|uncertain significance
GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1 copy number loss See cases [RCV000143634] Chr3:132716978..144784743 [GRCh38]
Chr3:132435822..144503585 [GRCh37]
Chr3:133918512..145986275 [NCBI36]
Chr3:3q22.1-24
pathogenic
NM_023067.4(FOXL2):c.650C>T (p.Ser217Phe) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000192032]|not provided [RCV000521611] Chr3:138946073 [GRCh38]
Chr3:138664915 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic
NM_023067.4(FOXL2):c.661_702= (p.Ala221_Ala234=) indel Blepharophimosis, ptosis, and epicanthus inversus [RCV000192034] Chr3:138946021..138946062 [GRCh38]
Chr3:138664863..138664904 [GRCh37]
Chr3:3q22.3
benign
NM_023067.3(FOXL2):c.661GCN[15_24] (p.Ala221[(15_24)]) microsatellite Blepharophimosis, ptosis, and epicanthus inversus [RCV000192035] Chr3:3q22.3 pathogenic
NM_023067.3(FOXL2):c.804dupC (p.Gly269Argfs) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000192036] Chr3:138945919 [GRCh38]
Chr3:138664761 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.841_857dup (p.Pro287fs) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000192037] Chr3:138945865..138945866 [GRCh38]
Chr3:138664707..138664708 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.843_865dup (p.His289fs) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000192038] Chr3:138945857..138945858 [GRCh38]
Chr3:138664699..138664700 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.854del (p.Pro285fs) deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000192039] Chr3:138945869 [GRCh38]
Chr3:138664711 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.3(FOXL2):c.855_871dup17 (p.His291Argfs) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000192040] Chr3:138945852..138945868 [GRCh38]
Chr3:138664694..138664710 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.3(FOXL2):c.855_871del17 (p.Pro287Alafs) deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000192041] Chr3:138945852..138945868 [GRCh38]
Chr3:138664694..138664710 [GRCh37]
Chr3:3q22.3
pathogenic
GRCh37/hg19 3q22.3-23(chr3:135935129-141867748)x3 copy number gain See cases [RCV000239877] Chr3:135935129..141867748 [GRCh37]
Chr3:3q22.3-23
likely pathogenic
NM_023067.4(FOXL2):c.700_701insAGCGGCTGCAGCAGCTGCGGCTGCAGCCGC (p.Ala234delinsGluArgLeuGlnGlnLeuArgLeuGlnProPro) insertion Blepharophimosis, ptosis, and epicanthus inversus [RCV000677693] Chr3:138946022..138946023 [GRCh38]
Chr3:138664864..138664865 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.819G>C (p.Ser273=) single nucleotide variant not specified [RCV000246314] Chr3:138945904 [GRCh38]
Chr3:138664746 [GRCh37]
Chr3:3q22.3
likely benign
NM_023067.4(FOXL2):c.536C>G (p.Ala179Gly) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408807]|not specified [RCV000241708] Chr3:138946187 [GRCh38]
Chr3:138665029 [GRCh37]
Chr3:3q22.3
benign
NM_023067.4(FOXL2):c.501C>T (p.Phe167=) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408767]|not specified [RCV000249749] Chr3:138946222 [GRCh38]
Chr3:138665064 [GRCh37]
Chr3:3q22.3
benign
NM_023067.4(FOXL2):c.-251G>A single nucleotide variant not specified [RCV000245190] Chr3:138946973 [GRCh38]
Chr3:138665815 [GRCh37]
Chr3:3q22.3
benign
NM_023067.4(FOXL2):c.578A>G (p.Lys193Arg) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408755] Chr3:138946145 [GRCh38]
Chr3:138664987 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_023067.4(FOXL2):c.195G>A (p.Met65Ile) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408759] Chr3:138946528 [GRCh38]
Chr3:138665370 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_023067.4(FOXL2):c.233C>A (p.Ser78Tyr) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408766] Chr3:138946490 [GRCh38]
Chr3:138665332 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_023067.4(FOXL2):c.173C>A (p.Ser58Ter) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408770] Chr3:138946550 [GRCh38]
Chr3:138665392 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.293G>A (p.Trp98Ter) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408774] Chr3:138946430 [GRCh38]
Chr3:138665272 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.656A>T (p.Gln219Leu) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408776] Chr3:138946067 [GRCh38]
Chr3:138664909 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_023067.4(FOXL2):c.777dup (p.Arg260fs) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000408754] Chr3:138945945..138945946 [GRCh38]
Chr3:138664787..138664788 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.308G>T (p.Arg103Leu) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408780] Chr3:138946415 [GRCh38]
Chr3:138665257 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_023067.4(FOXL2):c.618del (p.Pro207fs) deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000408781] Chr3:138946105 [GRCh38]
Chr3:138664947 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.907_926dup (p.His312fs) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000408783] Chr3:138945796..138945797 [GRCh38]
Chr3:138664638..138664639 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.644A>G (p.Tyr215Cys) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408786]|not provided [RCV000523621] Chr3:138946079 [GRCh38]
Chr3:138664921 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.314_319del (p.Asn105_Leu106del) deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000408788] Chr3:138946404..138946409 [GRCh38]
Chr3:138665246..138665251 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_023067.4(FOXL2):c.43del (p.Leu15fs) deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000408789] Chr3:138946680 [GRCh38]
Chr3:138665522 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.678_705del (p.Ala227fs) deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000408791] Chr3:138946018..138946045 [GRCh38]
Chr3:138664860..138664887 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.1011del (p.Thr338fs) deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000408792] Chr3:138945712 [GRCh38]
Chr3:138664554 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.338del (p.Ile113fs) deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000408795] Chr3:138946385 [GRCh38]
Chr3:138665227 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.184_198dup (p.Leu62_Ala66dup) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000408796] Chr3:138946524..138946525 [GRCh38]
Chr3:138665366..138665367 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_023067.4(FOXL2):c.799C>A (p.Pro267Thr) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408800] Chr3:138945924 [GRCh38]
Chr3:138664766 [GRCh37]
Chr3:3q22.3
likely benign
NM_023067.4(FOXL2):c.389T>A (p.Leu130Gln) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408803] Chr3:138946334 [GRCh38]
Chr3:138665176 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_023067.4(FOXL2):c.256G>C (p.Ala86Pro) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408808] Chr3:138946467 [GRCh38]
Chr3:138665309 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_023067.4(FOXL2):c.303C>G (p.Ser101Arg) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408814] Chr3:138946420 [GRCh38]
Chr3:138665262 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_023067.4(FOXL2):c.582C>G (p.Tyr194Ter) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408815] Chr3:138946141 [GRCh38]
Chr3:138664983 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.205G>T (p.Glu69Ter) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408818] Chr3:138946518 [GRCh38]
Chr3:138665360 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.827dup (p.Leu277fs) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000408820] Chr3:138945895..138945896 [GRCh38]
Chr3:138664737..138664738 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.630_651dup (p.Cys218fs) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000408822] Chr3:138946071..138946072 [GRCh38]
Chr3:138664913..138664914 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.311A>G (p.His104Arg) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408824] Chr3:138946412 [GRCh38]
Chr3:138665254 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_023067.4(FOXL2):c.951_961dup (p.Gln321fs) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000408828] Chr3:138945761..138945762 [GRCh38]
Chr3:138664603..138664604 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.316C>T (p.Leu106Phe) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408833] Chr3:138946407 [GRCh38]
Chr3:138665249 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_023067.4(FOXL2):c.647C>T (p.Ala216Val) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408834] Chr3:138946076 [GRCh38]
Chr3:138664918 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_023067.4(FOXL2):c.856_857delinsA (p.Pro286fs) indel Blepharophimosis, ptosis, and epicanthus inversus [RCV000408840] Chr3:138945866..138945867 [GRCh38]
Chr3:138664708..138664709 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.662_689del (p.Ala221fs) deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000408843] Chr3:138946034..138946061 [GRCh38]
Chr3:138664876..138664903 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.674_695del (p.Ala225fs) deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000408845] Chr3:138946028..138946049 [GRCh38]
Chr3:138664870..138664891 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.389T>C (p.Leu130Pro) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408848] Chr3:138946334 [GRCh38]
Chr3:138665176 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_023067.4(FOXL2):c.171C>G (p.Tyr57Ter) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408854] Chr3:138946552 [GRCh38]
Chr3:138665394 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.748_749del (p.Gly250fs) deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000408856] Chr3:138945974..138945975 [GRCh38]
Chr3:138664816..138664817 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.576dup (p.Lys193fs) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000408857] Chr3:138946146..138946147 [GRCh38]
Chr3:138664988..138664989 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.187A>C (p.Ile63Leu) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408860] Chr3:138946536 [GRCh38]
Chr3:138665378 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_023067.4(FOXL2):c.340A>G (p.Lys114Glu) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408861] Chr3:138946383 [GRCh38]
Chr3:138665225 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_023067.4(FOXL2):c.804del (p.Gly269fs) deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000408862] Chr3:138945919 [GRCh38]
Chr3:138664761 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.612G>A (p.Trp204Ter) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408864] Chr3:138946111 [GRCh38]
Chr3:138664953 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.308G>A (p.Arg103His) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408865] Chr3:138946415 [GRCh38]
Chr3:138665257 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_023067.4(FOXL2):c.892dup (p.His298fs) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000408867] Chr3:138945830..138945831 [GRCh38]
Chr3:138664672..138664673 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.208A>G (p.Ser70Gly) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408868] Chr3:138946515 [GRCh38]
Chr3:138665357 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_023067.4(FOXL2):c.840_871del (p.Ala283fs) deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000408869] Chr3:138945852..138945883 [GRCh38]
Chr3:138664694..138664725 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.632C>A (p.Ser211Ter) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408870] Chr3:138946091 [GRCh38]
Chr3:138664933 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.292T>C (p.Trp98Arg) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408873] Chr3:138946431 [GRCh38]
Chr3:138665273 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_023067.4(FOXL2):c.663_692dup (p.Ala225_Ala234dup) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000408883] Chr3:138946030..138946031 [GRCh38]
Chr3:138664872..138664873 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.353_476dup (p.His159fs) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000408885] Chr3:138946246..138946247 [GRCh38]
Chr3:138665088..138665089 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.313_315del (p.Asn105del) deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000408889] Chr3:138946408..138946410 [GRCh38]
Chr3:138665250..138665252 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_023067.4(FOXL2):c.15C>A (p.Tyr5Ter) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408892] Chr3:138946708 [GRCh38]
Chr3:138665550 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.982del (p.Ala328fs) deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000408893] Chr3:138945741 [GRCh38]
Chr3:138664583 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.674_703dup (p.Ala225_Ala234dup) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000408895] Chr3:138946019..138946020 [GRCh38]
Chr3:138664861..138664862 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.319A>G (p.Ser107Gly) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000408897] Chr3:138946404 [GRCh38]
Chr3:138665246 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_023067.4(FOXL2):c.988dup (p.Ala330fs) duplication Premature ovarian failure 3 [RCV000596083] Chr3:138945734..138945735 [GRCh38]
Chr3:138664576..138664577 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.490A>T (p.Lys164Ter) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000449613] Chr3:138946233 [GRCh38]
Chr3:138665075 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.402C>G (p.Cys134Trp) single nucleotide variant Granulosa Cell Tumor [RCV000440026] Chr3:138946321 [GRCh38]
Chr3:138665163 [GRCh37]
Chr3:3q22.3
not provided
NM_023067.4(FOXL2):c.1071T>C (p.His357=) single nucleotide variant not specified [RCV000499761] Chr3:138945652 [GRCh38]
Chr3:138664494 [GRCh37]
Chr3:3q22.3
likely benign
NM_023067.4(FOXL2):c.102dup (p.Gly35fs) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000504566] Chr3:138946620..138946621 [GRCh38]
Chr3:138665462..138665463 [GRCh37]
Chr3:3q22.3
pathogenic
GRCh37/hg19 3q22.3-23(chr3:138413416-139096053)x3 copy number gain See cases [RCV000511927] Chr3:138413416..139096053 [GRCh37]
Chr3:3q22.3-23
uncertain significance
NM_023067.4(FOXL2):c.462_468del (p.Pro156fs) deletion Premature ovarian failure 3 [RCV000625747] Chr3:138946255..138946261 [GRCh38]
Chr3:138665097..138665103 [GRCh37]
Chr3:3q22.3
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q22.3-23(chr3:138023193-140565017)x3 copy number gain not provided [RCV000682308] Chr3:138023193..140565017 [GRCh37]
Chr3:3q22.3-23
uncertain significance
GRCh37/hg19 3q22.3-23(chr3:138525030-139146538)x1 copy number loss not provided [RCV000682310] Chr3:138525030..139146538 [GRCh37]
Chr3:3q22.3-23
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q22.3(chr3:138663653-138669222)x1 copy number loss not provided [RCV000742821] Chr3:138663653..138669222 [GRCh37]
Chr3:3q22.3
benign
NM_023067.4(FOXL2):c.266C>A (p.Pro89Gln) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV001029899] Chr3:138946457 [GRCh38]
Chr3:138665299 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_023067.4(FOXL2):c.998dup (p.Ala334fs) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000785839] Chr3:138945724..138945725 [GRCh38]
Chr3:138664566..138664567 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.399del (p.Cys134fs) deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000785847] Chr3:138946324 [GRCh38]
Chr3:138665166 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.551dup (p.Asp184fs) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000785851] Chr3:138946171..138946172 [GRCh38]
Chr3:138665013..138665014 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.160A>G (p.Lys54Glu) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000785826] Chr3:138946563 [GRCh38]
Chr3:138665405 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.384G>A (p.Trp128Ter) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000785845] Chr3:138946339 [GRCh38]
Chr3:138665181 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.445_469dup (p.Pro157fs) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000785848] Chr3:138946253..138946254 [GRCh38]
Chr3:138665095..138665096 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.669_681del (p.Ala224fs) deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000785852] Chr3:138946042..138946054 [GRCh38]
Chr3:138664884..138664896 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.784C>T (p.Gln262Ter) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000785856] Chr3:138945939 [GRCh38]
Chr3:138664781 [GRCh37]
Chr3:3q22.3
pathogenic
GRCh37/hg19 3q22.2-24(chr3:135288025-146874012) copy number gain not provided [RCV000767703] Chr3:135288025..146874012 [GRCh37]
Chr3:3q22.2-24
pathogenic
NM_023067.4(FOXL2):c.675_769dup (p.Pro257fs) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000785853] Chr3:138945953..138945954 [GRCh38]
Chr3:138664795..138664796 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.55G>T (p.Glu19Ter) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000785825] Chr3:138946668 [GRCh38]
Chr3:138665510 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.188T>A (p.Ile63Asn) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000785832] Chr3:138946535 [GRCh38]
Chr3:138665377 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_023067.4(FOXL2):c.193A>G (p.Met65Val) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000785833] Chr3:138946530 [GRCh38]
Chr3:138665372 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_023067.4(FOXL2):c.230T>C (p.Leu77Pro) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000785834] Chr3:138946493 [GRCh38]
Chr3:138665335 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_023067.4(FOXL2):c.262T>A (p.Phe88Ile) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000785835] Chr3:138946461 [GRCh38]
Chr3:138665303 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_023067.4(FOXL2):c.818C>A (p.Ser273Ter) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000785857] Chr3:138945905 [GRCh38]
Chr3:138664747 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.384del (p.Tyr127_Trp128insTer) deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000785844] Chr3:138946339 [GRCh38]
Chr3:138665181 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.1103del (p.Gly368fs) deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000785840] Chr3:138945620 [GRCh38]
Chr3:138664462 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.773del (p.Tyr258fs) deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000785855] Chr3:138945950 [GRCh38]
Chr3:138664792 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.169T>A (p.Tyr57Asn) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000785827] Chr3:138946554 [GRCh38]
Chr3:138665396 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_023067.4(FOXL2):c.175T>G (p.Tyr59Asp) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000785830] Chr3:138946548 [GRCh38]
Chr3:138665390 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_023067.4(FOXL2):c.52_53del (p.Pro18fs) deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000785842] Chr3:138946670..138946671 [GRCh38]
Chr3:138665512..138665513 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.173C>G (p.Ser58Trp) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000785828] Chr3:138946550 [GRCh38]
Chr3:138665392 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_023067.4(FOXL2):c.174_186del (p.Tyr59fs) deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000785829] Chr3:138946537..138946549 [GRCh38]
Chr3:138665379..138665391 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.718G>T (p.Gly240Cys) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000785854] Chr3:138946005 [GRCh38]
Chr3:138664847 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_023067.4(FOXL2):c.937_944dup (p.Ala316fs) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000785861] Chr3:138945778..138945779 [GRCh38]
Chr3:138664620..138664621 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.266C>G (p.Pro89Arg) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000785836] Chr3:138946457 [GRCh38]
Chr3:138665299 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_023067.4(FOXL2):c.298A>G (p.Asn100Asp) single nucleotide variant Blepharophimosis, ptosis, and epicanthus inversus [RCV000785837] Chr3:138946425 [GRCh38]
Chr3:138665267 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_023067.4(FOXL2):c.335TCA[1] (p.Ile113del) microsatellite Blepharophimosis, ptosis, and epicanthus inversus [RCV000785838] Chr3:138946383..138946385 [GRCh38]
Chr3:138665225..138665227 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_023067.4(FOXL2):c.387del (p.Leu130fs) deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000785846] Chr3:138946336 [GRCh38]
Chr3:138665178 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.525del (p.Cys176fs) deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000785849] Chr3:138946198 [GRCh38]
Chr3:138665040 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.549dup (p.Asp184fs) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000785850] Chr3:138946173..138946174 [GRCh38]
Chr3:138665015..138665016 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.935_997delinsGGCGGCGGCG (p.His312fs) indel Blepharophimosis, ptosis, and epicanthus inversus [RCV000785859] Chr3:138945726..138945788 [GRCh38]
Chr3:138664568..138664630 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.377_380dup (p.Tyr127Ter) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000785843] Chr3:138946342..138946343 [GRCh38]
Chr3:138665184..138665185 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.841_842insT (p.Pro281fs) insertion Blepharophimosis, ptosis, and epicanthus inversus [RCV000785858] Chr3:138945881..138945882 [GRCh38]
Chr3:138664723..138664724 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.18del (p.Glu7fs) deletion Blepharophimosis, ptosis, and epicanthus inversus [RCV000785841] Chr3:138946705 [GRCh38]
Chr3:138665547 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.948_955del (p.Pro317fs) microsatellite Blepharophimosis, ptosis, and epicanthus inversus [RCV000785862] Chr3:138945768..138945775 [GRCh38]
Chr3:138664610..138664617 [GRCh37]
Chr3:3q22.3
pathogenic
NM_023067.4(FOXL2):c.901_911dup (p.Pro305fs) duplication Blepharophimosis, ptosis, and epicanthus inversus [RCV000785860] Chr3:138945811..138945812 [GRCh38]
Chr3:138664653..138664654 [GRCh37]
Chr3:3q22.3
pathogenic
GRCh37/hg19 3q22.3-23(chr3:138253995-138769278)x3 copy number gain not provided [RCV000846131] Chr3:138253995..138769278 [GRCh37]
Chr3:3q22.3-23
uncertain significance
GRCh37/hg19 3q22.3-23(chr3:138220588-138777135)x3 copy number gain not provided [RCV000848316] Chr3:138220588..138777135 [GRCh37]
Chr3:3q22.3-23
uncertain significance
GRCh37/hg19 3q22.3(chr3:138203261-138669628)x3 copy number gain not provided [RCV001005472] Chr3:138203261..138669628 [GRCh37]
Chr3:3q22.3
likely benign
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3 copy number gain See cases [RCV001194586] Chr3:138145289..162275610 [GRCh37]
Chr3:3q22.3-26.1
pathogenic
GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699) copy number gain Global developmental delay [RCV001352648] Chr3:138173683..162494699 [GRCh37]
Chr3:3q22.3-26.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1092 AgrOrtholog
COSMIC FOXL2 COSMIC
Ensembl Genes ENSG00000183770 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000497217 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000648323 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000183770 GTEx
HGNC ID HGNC:1092 ENTREZGENE
Human Proteome Map FOXL2 Human Proteome Map
InterPro Fork_head_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_fork_head_CS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_fork_head_CS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:668 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 668 ENTREZGENE
OMIM 110100 OMIM
  605597 OMIM
  608996 OMIM
Pfam Forkhead UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28235 PharmGKB
PRINTS FORKHEAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FORK_HEAD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FORK_HEAD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FORK_HEAD_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00339 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt FOXL2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q05CX9_HUMAN UniProtKB/TrEMBL
  Q4JHB5_HUMAN UniProtKB/TrEMBL
  Q4JHB6_HUMAN UniProtKB/TrEMBL
  Q4JHB7_HUMAN UniProtKB/TrEMBL
  Q53ZD3 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q4ZGJ3 UniProtKB/Swiss-Prot