FUCA2 (alpha-L-fucosidase 2) - Rat Genome Database

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Gene: FUCA2 (alpha-L-fucosidase 2) Homo sapiens
Analyze
Symbol: FUCA2
Name: alpha-L-fucosidase 2
RGD ID: 1344103
HGNC Page HGNC
Description: Enables alpha-L-fucosidase activity. Involved in several processes, including fucose metabolic process; glycoside catabolic process; and regulation of entry of bacterium into host cell. Located in extracellular space.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: a-L-fucosidase 2; alpha-L-fucoside fucohydrolase 2; dJ20N2.5; fucosidase, alpha-L- 2, plasma; I+/--L-fucosidase 2; MGC1314; plasma alpha-L-fucosidase; plasma fucosidase; RP1-20N2.5
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 Ensembl6143,494,812 - 143,511,720 (-)EnsemblGRCh38hg38GRCh38
GRCh386143,494,812 - 143,511,720 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh376143,815,949 - 143,832,857 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366143,857,935 - 143,874,556 (-)NCBINCBI36hg18NCBI36
Build 346143,857,938 - 143,874,556NCBI
Celera6144,556,372 - 144,573,429 (-)NCBI
Cytogenetic Map6q24.2NCBI
HuRef6141,380,071 - 141,397,142 (-)NCBIHuRef
CHM1_16144,078,857 - 144,095,928 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
High myopia  (IAGP)
References

Additional References at PubMed
PMID:1951444   PMID:6590153   PMID:8344670   PMID:11389735   PMID:12477932   PMID:12975309   PMID:14574404   PMID:15342556   PMID:15489334   PMID:16303743   PMID:17207965   PMID:18521898  
PMID:19666478   PMID:20800603   PMID:21145461   PMID:21873635   PMID:22082156   PMID:22268729   PMID:23376485   PMID:23533145   PMID:24469468   PMID:25416956   PMID:27636371   PMID:28298427  
PMID:28380382   PMID:28514442   PMID:31515488   PMID:32296183   PMID:32409323   PMID:32513696   PMID:32838362   PMID:32994395   PMID:33060197   PMID:33961781   PMID:34709727  


Genomics

Comparative Map Data
FUCA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6143,494,812 - 143,511,720 (-)EnsemblGRCh38hg38GRCh38
GRCh386143,494,812 - 143,511,720 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh376143,815,949 - 143,832,857 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366143,857,935 - 143,874,556 (-)NCBINCBI36hg18NCBI36
Build 346143,857,938 - 143,874,556NCBI
Celera6144,556,372 - 144,573,429 (-)NCBI
Cytogenetic Map6q24.2NCBI
HuRef6141,380,071 - 141,397,142 (-)NCBIHuRef
CHM1_16144,078,857 - 144,095,928 (-)NCBICHM1_1
Fuca2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391013,376,314 - 13,394,779 (+)NCBIGRCm39mm39
GRCm39 Ensembl1013,375,284 - 13,394,779 (+)Ensembl
GRCm381013,500,570 - 13,519,035 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1013,499,540 - 13,519,035 (+)EnsemblGRCm38mm10GRCm38
MGSCv371013,220,834 - 13,237,081 (+)NCBIGRCm37mm9NCBIm37
MGSCv361013,191,226 - 13,207,473 (+)NCBImm8
Celera1013,400,306 - 13,417,445 (+)NCBICelera
Cytogenetic Map10A2NCBI
Fuca2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.217,885,986 - 7,900,777 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl17,885,918 - 7,900,776 (+)Ensembl
Rnor_6.017,658,919 - 7,673,663 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl17,658,890 - 7,673,683 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.019,287,057 - 9,301,801 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.418,289,580 - 8,304,369 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.118,289,579 - 8,304,368 (+)NCBI
Celera16,371,147 - 6,385,936 (+)NCBICelera
Cytogenetic Map1p13NCBI
Fuca2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543616,896,629 - 16,915,083 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543616,896,629 - 16,912,406 (+)NCBIChiLan1.0ChiLan1.0
FUCA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.16145,992,631 - 146,009,163 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6145,992,631 - 146,009,163 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v06141,271,678 - 141,288,241 (-)NCBIMhudiblu_PPA_v0panPan3
FUCA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1135,028,152 - 35,091,376 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl134,999,482 - 35,043,229 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha135,926,225 - 35,944,404 (-)NCBI
ROS_Cfam_1.0135,209,831 - 35,228,087 (-)NCBI
UMICH_Zoey_3.1135,071,490 - 35,089,671 (-)NCBI
UNSW_CanFamBas_1.0134,954,421 - 34,972,573 (-)NCBI
UU_Cfam_GSD_1.0135,266,692 - 35,284,867 (-)NCBI
Fuca2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946129,982,231 - 129,999,419 (-)NCBI
SpeTri2.0NW_0049366252,636,136 - 2,653,328 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FUCA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl121,742,494 - 21,762,901 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1121,742,192 - 21,762,901 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2124,129,407 - 24,150,031 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FUCA2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11329,729,056 - 29,747,400 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1329,729,604 - 29,749,435 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660401,865,617 - 1,883,713 (+)NCBIVero_WHO_p1.0
Fuca2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475310,767,093 - 10,782,963 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
STS-T95834  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376143,816,652 - 143,816,827UniSTSGRCh37
Build 366143,858,345 - 143,858,520RGDNCBI36
Celera6144,557,075 - 144,557,250RGD
Cytogenetic Map6q24UniSTS
HuRef6141,380,774 - 141,380,949UniSTS
GeneMap99-GB4 RH Map6570.25UniSTS
RH98954  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376143,816,813 - 143,816,980UniSTSGRCh37
Build 366143,858,506 - 143,858,673RGDNCBI36
Celera6144,557,236 - 144,557,403RGD
Cytogenetic Map6q24UniSTS
HuRef6141,380,935 - 141,381,102UniSTS
GeneMap99-GB4 RH Map6570.25UniSTS
FUCA2_8358  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376143,816,297 - 143,816,857UniSTSGRCh37
Build 366143,857,990 - 143,858,550RGDNCBI36
Celera6144,556,720 - 144,557,280RGD
HuRef6141,380,419 - 141,380,979UniSTS
A006N25  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376143,816,781 - 143,816,934UniSTSGRCh37
Build 366143,858,474 - 143,858,627RGDNCBI36
Celera6144,557,204 - 144,557,357RGD
Cytogenetic Map6q24UniSTS
HuRef6141,380,903 - 141,381,056UniSTS
GeneMap99-GB4 RH Map6571.34UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:835
Count of miRNA genes:498
Interacting mature miRNAs:544
Transcripts:ENST00000002165, ENST00000367585, ENST00000438118, ENST00000451668
Prediction methods:Miranda, Rnahybrid, Targetscan
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 pharyngeal arch
High
Medium 2433 2330 1660 567 1366 408 3230 1240 2117 407 1367 1593 174 1 1204 1860 6 2
Low 6 661 65 57 536 57 1127 938 1601 12 93 17 928
Below cutoff 1 34 13 10 2 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000002165   ⟹   ENSP00000002165
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6143,494,812 - 143,511,720 (-)Ensembl
RefSeq Acc Id: ENST00000367585
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6143,501,945 - 143,511,690 (-)Ensembl
RefSeq Acc Id: ENST00000451668   ⟹   ENSP00000398119
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6143,496,952 - 143,502,122 (-)Ensembl
RefSeq Acc Id: NM_032020   ⟹   NP_114409
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386143,494,812 - 143,511,720 (-)NCBI
GRCh376143,815,949 - 143,833,020 (-)ENTREZGENE
Build 366143,857,935 - 143,874,556 (-)NCBI Archive
HuRef6141,380,071 - 141,397,142 (-)ENTREZGENE
CHM1_16144,078,857 - 144,095,928 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_114409   ⟸   NM_032020
- Peptide Label: precursor
- UniProtKB: Q9BTY2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000002165   ⟸   ENST00000002165
RefSeq Acc Id: ENSP00000398119   ⟸   ENST00000451668
Protein Domains
Fucosidase_C

Promoters
RGD ID:7209315
Promoter ID:EPDNEW_H10403
Type:initiation region
Name:FUCA2_1
Description:fucosidase, alpha-L- 2, plasma
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386143,511,720 - 143,511,780EPDNEW
RGD ID:6803984
Promoter ID:HG_KWN:55262
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000002165,   ENST00000341946,   ENST00000367585
Position:
Human AssemblyChrPosition (strand)Source
Build 366143,874,061 - 143,874,561 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3 copy number gain See cases [RCV000050604] Chr6:141132990..169339571 [GRCh38]
Chr6:141454127..169739666 [GRCh37]
Chr6:141495820..169481591 [NCBI36]
Chr6:6q24.1-27
pathogenic
GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3 copy number gain See cases [RCV000136826] Chr6:135358150..155455117 [GRCh38]
Chr6:135679288..155776251 [GRCh37]
Chr6:135720981..155817943 [NCBI36]
Chr6:6q23.3-25.3
pathogenic
GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3 copy number gain See cases [RCV000143444] Chr6:133537271..165875545 [GRCh38]
Chr6:133858409..166289033 [GRCh37]
Chr6:133900102..166209023 [NCBI36]
Chr6:6q23.2-27
pathogenic
GRCh37/hg19 6q24.1-24.3(chr6:140746967-146877424)x1 copy number loss See cases [RCV000445733] Chr6:140746967..146877424 [GRCh37]
Chr6:6q24.1-24.3
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q24.1-25.1(chr6:139513020-150389231)x1 copy number loss See cases [RCV000510942] Chr6:139513020..150389231 [GRCh37]
Chr6:6q24.1-25.1
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q24.2(chr6:143806551-143868242)x3 copy number gain not provided [RCV000746084] Chr6:143806551..143868242 [GRCh37]
Chr6:6q24.2
benign
NM_032020.5(FUCA2):c.243A>G (p.Glu81=) single nucleotide variant not provided [RCV000895963] Chr6:143507406 [GRCh38]
Chr6:143828543 [GRCh37]
Chr6:6q24.2
likely benign
NM_032020.5(FUCA2):c.964-7T>A single nucleotide variant not provided [RCV000967025] Chr6:143502129 [GRCh38]
Chr6:143823266 [GRCh37]
Chr6:6q24.2
benign
NM_032020.5(FUCA2):c.413-5T>C single nucleotide variant not provided [RCV000967026] Chr6:143504257 [GRCh38]
Chr6:143825394 [GRCh37]
Chr6:6q24.2
benign
GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510) copy number loss not provided [RCV000767713] Chr6:135239633..146997510 [GRCh37]
Chr6:6q23.3-24.3
pathogenic
NM_032020.5(FUCA2):c.208G>A (p.Gly70Ser) single nucleotide variant High myopia [RCV000785726] Chr6:143511427 [GRCh38]
Chr6:143832564 [GRCh37]
Chr6:6q24.2
uncertain significance
NM_032020.5(FUCA2):c.1149T>C (p.Asp383=) single nucleotide variant not provided [RCV000888649] Chr6:143501937 [GRCh38]
Chr6:143823074 [GRCh37]
Chr6:6q24.2
benign
NC_000006.12:g.(?_143333282)_(143511634_?)dup duplication not provided [RCV001033035] Chr6:143654419..143832771 [GRCh37]
Chr6:6q24.2
uncertain significance
NC_000006.11:g.(?_143771700)_(144086935_?)dup duplication not provided [RCV001364930] Chr6:143771700..144086935 [GRCh37]
Chr6:6q24.2
uncertain significance
NC_000006.11:g.(?_143772160)_(144508648_?)del deletion Familial hemophagocytic lymphohistiocytosis 4 [RCV001383555] Chr6:143772160..144508648 [GRCh37]
Chr6:6q24.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4008 AgrOrtholog
COSMIC FUCA2 COSMIC
Ensembl Genes ENSG00000001036 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000002165 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000398119 UniProtKB/TrEMBL
Ensembl Transcript ENST00000002165 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000451668 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.1180 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000001036 GTEx
HGNC ID HGNC:4008 ENTREZGENE
Human Proteome Map FUCA2 Human Proteome Map
InterPro FUC_metazoa-typ UniProtKB/Swiss-Prot
  Fucosidase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_29 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_29_CS UniProtKB/Swiss-Prot
  Glyco_hydro_b UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glycoside_hydrolase_SF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2519 UniProtKB/Swiss-Prot
NCBI Gene 2519 ENTREZGENE
OMIM 136820 OMIM
PANTHER PTHR10030 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Alpha_L_fucos UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fucosidase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28424 PharmGKB
PIRSF Alpha-L-fucosidase UniProtKB/Swiss-Prot
PRINTS GLHYDRLASE29 UniProtKB/Swiss-Prot
PROSITE ALPHA_L_FUCOSIDASE UniProtKB/Swiss-Prot
SMART Alpha_L_fucos UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51445 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt FUCO2_HUMAN UniProtKB/Swiss-Prot
  Q7Z6V2_HUMAN UniProtKB/TrEMBL
  Q9BTY2 ENTREZGENE
UniProt Secondary E9PEB6 UniProtKB/Swiss-Prot
  Q7Z6V1 UniProtKB/Swiss-Prot
  Q7Z6Y2 UniProtKB/Swiss-Prot
  Q8NBK4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-07-04 FUCA2  alpha-L-fucosidase 2    fucosidase, alpha-L- 2, plasma  Symbol and/or name change 5135510 APPROVED