EPB42 (erythrocyte membrane protein band 4.2) - Rat Genome Database

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Gene: EPB42 (erythrocyte membrane protein band 4.2) Homo sapiens
Analyze
Symbol: EPB42
Name: erythrocyte membrane protein band 4.2
RGD ID: 1313258
HGNC Page HGNC
Description: Predicted to have protein-glutamine gamma-glutamyltransferase activity. Predicted to be involved in ion homeostasis and peptide cross-linking. Predicted to localize to membrane. Implicated in hereditary spherocytosis and hereditary spherocytosis type 5.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: erythrocyte protein 4.2; erythrocyte surface protein band 4.2; MGC116735; MGC116737; P4.2; PA; SPH5
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 Ensembl1543,197,227 - 43,221,018 (-)EnsemblGRCh38hg38GRCh38
GRCh381543,197,227 - 43,225,856 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371543,489,425 - 43,513,216 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361541,276,720 - 41,300,773 (-)NCBINCBI36hg18NCBI36
Build 341541,276,719 - 41,300,773NCBI
Celera1520,260,253 - 20,284,152 (-)NCBI
Cytogenetic Map15q15.2NCBI
HuRef1520,338,220 - 20,362,120 (-)NCBIHuRef
CHM1_11543,608,206 - 43,632,105 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:1284644   PMID:1350227   PMID:1544941   PMID:1689063   PMID:1729896   PMID:1826225   PMID:2052563   PMID:2300550   PMID:2968981   PMID:3276554   PMID:7626035   PMID:7772513  
PMID:7803799   PMID:7819064   PMID:7925374   PMID:8499466   PMID:8608138   PMID:8889548   PMID:10333496   PMID:10610180   PMID:11390390   PMID:11936273   PMID:12049649   PMID:12176912  
PMID:12393467   PMID:12434312   PMID:12477932   PMID:12576321   PMID:12646258   PMID:12970870   PMID:14551146   PMID:16718373   PMID:18051367   PMID:18624398   PMID:19269200   PMID:20007969  
PMID:21039340   PMID:21873635   PMID:24624460   PMID:28514442   PMID:29845934   PMID:32814053  


Genomics

Comparative Map Data
EPB42
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1543,197,227 - 43,221,018 (-)EnsemblGRCh38hg38GRCh38
GRCh381543,197,227 - 43,225,856 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371543,489,425 - 43,513,216 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361541,276,720 - 41,300,773 (-)NCBINCBI36hg18NCBI36
Build 341541,276,719 - 41,300,773NCBI
Celera1520,260,253 - 20,284,152 (-)NCBI
Cytogenetic Map15q15.2NCBI
HuRef1520,338,220 - 20,362,120 (-)NCBIHuRef
CHM1_11543,608,206 - 43,632,105 (-)NCBICHM1_1
Epb42
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392120,848,372 - 120,867,358 (-)NCBIGRCm39mm39
GRCm39 Ensembl2120,848,372 - 120,867,553 (-)Ensembl
GRCm382121,017,891 - 121,036,877 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2121,017,891 - 121,037,072 (-)EnsemblGRCm38mm10GRCm38
MGSCv372120,843,953 - 120,862,491 (-)NCBIGRCm37mm9NCBIm37
MGSCv362120,709,658 - 120,728,196 (-)NCBImm8
Celera2122,170,412 - 122,188,962 (-)NCBICelera
Cytogenetic Map2E5NCBI
cM Map260.37NCBI
Epb42
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23107,979,709 - 107,997,932 (-)NCBI
Rnor_6.0 Ensembl3112,965,653 - 112,985,318 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.03112,967,095 - 112,985,318 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.03119,509,972 - 119,528,195 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43107,806,273 - 107,824,496 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.13107,703,057 - 107,723,679 (-)NCBI
Celera3106,882,884 - 106,901,107 (-)NCBICelera
Cytogenetic Map3q35NCBI
Epb42
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554169,784,260 - 9,798,194 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554169,784,211 - 9,800,453 (-)NCBIChiLan1.0ChiLan1.0
EPB42
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11540,313,462 - 40,337,458 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1540,313,462 - 40,337,458 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01522,157,831 - 22,183,254 (-)NCBIMhudiblu_PPA_v0panPan3
EPB42
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13010,065,352 - 10,085,021 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3010,065,469 - 10,084,976 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3010,124,435 - 10,143,997 (-)NCBI
ROS_Cfam_1.03010,201,518 - 10,221,080 (-)NCBI
UMICH_Zoey_3.13010,118,341 - 10,137,883 (-)NCBI
UNSW_CanFamBas_1.03010,239,312 - 10,258,862 (-)NCBI
UU_Cfam_GSD_1.03010,359,057 - 10,378,759 (-)NCBI
Epb42
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864088,529,093 - 88,547,882 (-)NCBI
SpeTri2.0NW_0049364716,377,232 - 6,393,588 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EPB42
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1128,231,997 - 128,253,031 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11128,231,863 - 128,253,696 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21143,108,368 - 143,129,865 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EPB42
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12639,770,288 - 39,794,252 (+)NCBI
ChlSab1.1 Ensembl2639,770,664 - 39,794,173 (+)Ensembl
Vero_WHO_p1.0NW_023666048101,218,993 - 101,243,288 (-)NCBI
Epb42
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462480410,299,905 - 10,318,154 (-)NCBI

Position Markers
RH45576  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371543,505,352 - 43,505,592UniSTSGRCh37
Build 361541,292,644 - 41,292,884RGDNCBI36
Celera1520,276,180 - 20,276,420RGD
Cytogenetic Map15q15-q21UniSTS
GeneMap99-GB4 RH Map15150.81UniSTS
WI-16760  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371543,509,764 - 43,509,913UniSTSGRCh37
Build 361541,297,056 - 41,297,205RGDNCBI36
Celera1520,280,593 - 20,280,742RGD
Cytogenetic Map15q15-q21UniSTS
HuRef1520,358,561 - 20,358,710UniSTS
GeneMap99-GB4 RH Map15150.81UniSTS
Whitehead-RH Map15121.2UniSTS
RH79589  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371543,505,347 - 43,505,592UniSTSGRCh37
Build 361541,292,639 - 41,292,884RGDNCBI36
Celera1520,276,175 - 20,276,420RGD
Cytogenetic Map15q15-q21UniSTS
HuRef1520,354,143 - 20,354,388UniSTS
GeneMap99-GB4 RH Map15150.47UniSTS
RH102596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371543,498,203 - 43,498,353UniSTSGRCh37
Build 361541,285,495 - 41,285,645RGDNCBI36
Celera1520,269,032 - 20,269,182RGD
Cytogenetic Map15q15-q21UniSTS
HuRef1520,347,000 - 20,347,150UniSTS
RH17526  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q15-q21UniSTS
GeneMap99-GB4 RH Map15153.17UniSTS
NCBI RH Map15170.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2187
Count of miRNA genes:1008
Interacting mature miRNAs:1227
Transcripts:ENST00000300215, ENST00000441366, ENST00000540029, ENST00000563128, ENST00000565459, ENST00000567019, ENST00000568508, ENST00000569204, ENST00000570199
Prediction methods:Microtar, 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
High
Medium 637 12 12 702 12 10 1 22 5 16
Low 70 298 254 112 430 113 620 30 129 221 522 385 1 972 57 3
Below cutoff 2256 1944 1370 438 481 281 3310 1945 3463 165 830 1117 164 1 216 2538 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001114134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005254225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC068724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU741892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DW451374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M29399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M30646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M30647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000441366   ⟹   ENSP00000396616
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1543,197,230 - 43,221,051 (-)Ensembl
RefSeq Acc Id: ENST00000540029   ⟹   ENSP00000444699
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1543,197,230 - 43,221,009 (-)Ensembl
RefSeq Acc Id: ENST00000565459   ⟹   ENSP00000457757
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1543,205,992 - 43,207,239 (-)Ensembl
RefSeq Acc Id: ENST00000567019
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1543,197,265 - 43,209,611 (-)Ensembl
RefSeq Acc Id: ENST00000569204   ⟹   ENSP00000455489
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1543,208,290 - 43,215,188 (-)Ensembl
RefSeq Acc Id: ENST00000622454   ⟹   ENSP00000481226
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1543,197,235 - 43,221,125 (-)Ensembl
RefSeq Acc Id: ENST00000648595   ⟹   ENSP00000497777
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1543,197,227 - 43,221,018 (-)Ensembl
RefSeq Acc Id: NM_000119   ⟹   NP_000110
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381543,197,227 - 43,221,018 (-)NCBI
GRCh371543,489,425 - 43,513,323 (-)ENTREZGENE
GRCh371543,489,425 - 43,513,323 (-)NCBI
Build 361541,276,720 - 41,300,773 (-)NCBI Archive
HuRef1520,338,220 - 20,362,120 (-)ENTREZGENE
CHM1_11543,608,206 - 43,632,105 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001114134   ⟹   NP_001107606
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381543,197,227 - 43,221,018 (-)NCBI
GRCh371543,489,425 - 43,513,323 (-)NCBI
HuRef1520,338,220 - 20,362,120 (-)ENTREZGENE
CHM1_11543,608,206 - 43,632,105 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005254225   ⟹   XP_005254282
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381543,197,227 - 43,220,962 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521349   ⟹   XP_011519651
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381543,197,227 - 43,225,856 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521350   ⟹   XP_011519652
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381543,197,227 - 43,225,856 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521351   ⟹   XP_011519653
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381543,197,227 - 43,225,856 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521352   ⟹   XP_011519654
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381543,197,227 - 43,221,064 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521353   ⟹   XP_011519655
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381543,197,227 - 43,221,063 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521354   ⟹   XP_011519656
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381543,197,227 - 43,215,148 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001107606   ⟸   NM_001114134
- Peptide Label: isoform 2
- UniProtKB: P16452 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000110   ⟸   NM_000119
- Peptide Label: isoform 1
- UniProtKB: P16452 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005254282   ⟸   XM_005254225
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011519653   ⟸   XM_011521351
- Peptide Label: isoform X1
- UniProtKB: P16452 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011519652   ⟸   XM_011521350
- Peptide Label: isoform X1
- UniProtKB: P16452 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011519651   ⟸   XM_011521349
- Peptide Label: isoform X1
- UniProtKB: P16452 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011519654   ⟸   XM_011521352
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011519655   ⟸   XM_011521353
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011519656   ⟸   XM_011521354
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000497777   ⟸   ENST00000648595
RefSeq Acc Id: ENSP00000481226   ⟸   ENST00000622454
RefSeq Acc Id: ENSP00000396616   ⟸   ENST00000441366
RefSeq Acc Id: ENSP00000457757   ⟸   ENST00000565459
RefSeq Acc Id: ENSP00000444699   ⟸   ENST00000540029
RefSeq Acc Id: ENSP00000455489   ⟸   ENST00000569204
Protein Domains
TGc   Transglut_C

Promoters
RGD ID:6792318
Promoter ID:HG_KWN:21164
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000397027,   NM_001114134,   OTTHUMT00000253201
Position:
Human AssemblyChrPosition (strand)Source
Build 361541,300,566 - 41,301,066 (-)MPROMDB
RGD ID:7229275
Promoter ID:EPDNEW_H20382
Type:initiation region
Name:EPB42_1
Description:erythrocyte membrane protein band 4.2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381543,221,018 - 43,221,078EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) single nucleotide variant Spherocytosis type 5 [RCV000014138] Chr15:43215191 [GRCh38]
Chr15:43507389 [GRCh37]
Chr15:15q15.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000119.2(EPB42):c.929G>A (p.Arg310Gln) single nucleotide variant Spherocytosis type 5 [RCV000014140] Chr15:43208769 [GRCh38]
Chr15:43500967 [GRCh37]
Chr15:15q15.2
pathogenic
NM_000119.2(EPB42):c.922+1G>A single nucleotide variant Spherocytosis type 5 [RCV000014141] Chr15:43209273 [GRCh38]
Chr15:43501471 [GRCh37]
Chr15:15q15.2
pathogenic
NM_000119.2(EPB42):c.1747G>T (p.Glu583Ter) single nucleotide variant Spherocytosis type 5 [RCV000014142] Chr15:43203237 [GRCh38]
Chr15:43495435 [GRCh37]
Chr15:15q15.2
pathogenic
NM_000119.2(EPB42):c.265delG (p.Val89Trpfs) deletion Spherocytosis type 5 [RCV000033190] Chr15:43216289 [GRCh38]
Chr15:43508487 [GRCh37]
Chr15:15q15.2
pathogenic
NM_000119.2(EPB42):c.1069C>T (p.Gln357Ter) single nucleotide variant Malignant melanoma [RCV000070780] Chr15:43208326 [GRCh38]
Chr15:43500524 [GRCh37]
Chr15:41287816 [NCBI36]
Chr15:15q15.2
not provided
NM_000119.3(EPB42):c.523G>T (p.Asp175Tyr) single nucleotide variant Spherocytosis type 5 [RCV000119050] Chr15:43211532 [GRCh38]
Chr15:43503730 [GRCh37]
Chr15:15q15.2
pathogenic
NM_000119.3(EPB42):c.920C>T (p.Thr307Ile) single nucleotide variant Spherocytosis type 5 [RCV000119051] Chr15:43209276 [GRCh38]
Chr15:43501474 [GRCh37]
Chr15:15q15.2
pathogenic
NM_000119.3(EPB42):c.949C>T (p.Arg317Cys) single nucleotide variant Spherocytosis type 5 [RCV000119052] Chr15:43208749 [GRCh38]
Chr15:43500947 [GRCh37]
Chr15:15q15.2
pathogenic
NM_000119.3(EPB42):c.950del (p.Arg317fs) deletion Spherocytosis type 5 [RCV000119053] Chr15:43208748 [GRCh38]
Chr15:43500946 [GRCh37]
Chr15:15q15.2
pathogenic
NM_000119.3(EPB42):c.1699G>A (p.Ala567Thr) single nucleotide variant Spherocytosis type 5 [RCV000258852] Chr15:43206339 [GRCh38]
Chr15:43498537 [GRCh37]
Chr15:15q15.2
pathogenic|uncertain significance
NM_000119.3(EPB42):c.286+6T>A single nucleotide variant Spherocytosis type 5 [RCV000258854] Chr15:43216262 [GRCh38]
Chr15:43508460 [GRCh37]
Chr15:15q15.2
pathogenic|uncertain significance
NC_000015.9:g.43513325A>T single nucleotide variant none provided [RCV001285518] Chr15:43221127 [GRCh38]
Chr15:43513325 [GRCh37]
Chr15:15q15.2
benign
GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1 copy number loss See cases [RCV000137921] Chr15:42566761..43847106 [GRCh38]
Chr15:42858959..44139304 [GRCh37]
Chr15:40646251..41926596 [NCBI36]
Chr15:15q15.2-15.3
likely pathogenic
GRCh38/hg38 15q15.2-15.3(chr15:42785627-43342260)x1 copy number loss See cases [RCV000142222] Chr15:42785627..43342260 [GRCh38]
Chr15:43077825..43634458 [GRCh37]
Chr15:40865117..41421750 [NCBI36]
Chr15:15q15.2-15.3
pathogenic
NM_000119.3(EPB42):c.1378G>A (p.Asp460Asn) single nucleotide variant not provided [RCV000756093] Chr15:43207229 [GRCh38]
Chr15:43499427 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.671G>A (p.Arg224His) single nucleotide variant not provided [RCV000757223] Chr15:43210408 [GRCh38]
Chr15:43502606 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.1409-13T>G single nucleotide variant not specified [RCV000246244] Chr15:43206642 [GRCh38]
Chr15:43498840 [GRCh37]
Chr15:15q15.2
likely benign
NM_000119.3(EPB42):c.276T>G (p.Thr92=) single nucleotide variant not specified [RCV000251162] Chr15:43216278 [GRCh38]
Chr15:43508476 [GRCh37]
Chr15:15q15.2
likely benign
NM_000119.3(EPB42):c.1369C>T (p.Arg457Cys) single nucleotide variant Spherocytosis type 5 [RCV000296485]|not provided [RCV000899320]|not specified [RCV000249237] Chr15:43207238 [GRCh38]
Chr15:43499436 [GRCh37]
Chr15:15q15.2
likely benign|uncertain significance
NM_000119.3(EPB42):c.1408+4C>T single nucleotide variant Spherocytosis type 5 [RCV001000220]|not specified [RCV000254219] Chr15:43207195 [GRCh38]
Chr15:43499393 [GRCh37]
Chr15:15q15.2
benign|likely benign|uncertain significance
NM_000119.3(EPB42):c.29C>T (p.Ser10Leu) single nucleotide variant Spherocytosis type 5 [RCV000756091]|not specified [RCV000254554] Chr15:43220797 [GRCh38]
Chr15:43512995 [GRCh37]
Chr15:15q15.2
benign|likely benign
NM_000119.3(EPB42):c.420G>A (p.Ala140=) single nucleotide variant Spherocytosis type 5 [RCV000756090]|not specified [RCV000244904] Chr15:43215195 [GRCh38]
Chr15:43507393 [GRCh37]
Chr15:15q15.2
benign|likely benign
NM_000119.3(EPB42):c.543T>C (p.Asn181=) single nucleotide variant Spherocytosis type 5 [RCV000329505]|not provided [RCV000889760]|not specified [RCV000249878] Chr15:43211512 [GRCh38]
Chr15:43503710 [GRCh37]
Chr15:15q15.2
benign|likely benign|uncertain significance
NM_000119.3(EPB42):c.984C>T (p.Thr328=) single nucleotide variant Spherocytosis type 5 [RCV001120392]|not provided [RCV000971039]|not specified [RCV000242547] Chr15:43208714 [GRCh38]
Chr15:43500912 [GRCh37]
Chr15:15q15.2
benign|likely benign|uncertain significance
NM_000119.3(EPB42):c.89G>A (p.Ser30Asn) single nucleotide variant Spherocytosis type 5 [RCV001116918]|not provided [RCV000909752]|not specified [RCV000247648] Chr15:43220737 [GRCh38]
Chr15:43512935 [GRCh37]
Chr15:15q15.2
benign|likely benign|uncertain significance
NM_000119.3(EPB42):c.744+7G>A single nucleotide variant Spherocytosis type 5 [RCV001000195]|not specified [RCV000242857] Chr15:43210328 [GRCh38]
Chr15:43502526 [GRCh37]
Chr15:15q15.2
benign|likely benign
NM_000119.3(EPB42):c.1122T>C (p.Asp374=) single nucleotide variant Spherocytosis type 5 [RCV000359912]|not specified [RCV000245923] Chr15:43208273 [GRCh38]
Chr15:43500471 [GRCh37]
Chr15:15q15.2
likely benign|uncertain significance
NM_000119.3(EPB42):c.923-4A>G single nucleotide variant Spherocytosis type 5 [RCV000359711]|not specified [RCV000250789] Chr15:43208779 [GRCh38]
Chr15:43500977 [GRCh37]
Chr15:15q15.2
benign|likely benign
NM_000119.3(EPB42):c.100+1G>A single nucleotide variant Spherocytosis type 5 [RCV000282303] Chr15:43220725 [GRCh38]
Chr15:43512923 [GRCh37]
Chr15:15q15.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000119.3(EPB42):c.2031_2033del (p.Met678del) deletion Spherocytosis, Recessive [RCV000284558] Chr15:43197435..43197437 [GRCh38]
Chr15:43489633..43489635 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.1115G>A (p.Gly372Asp) single nucleotide variant Spherocytosis type 5 [RCV000267602]|not provided [RCV000889759] Chr15:43208280 [GRCh38]
Chr15:43500478 [GRCh37]
Chr15:15q15.2
likely benign|uncertain significance
NM_000119.3(EPB42):c.-51T>C single nucleotide variant Spherocytosis type 5 [RCV000304692] Chr15:43220876 [GRCh38]
Chr15:43513074 [GRCh37]
Chr15:15q15.2
benign|likely benign
NM_000119.3(EPB42):c.1857C>A (p.His619Gln) single nucleotide variant Spherocytosis type 5 [RCV000756092] Chr15:43203127 [GRCh38]
Chr15:43495325 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.443C>T (p.Ser148Leu) single nucleotide variant Spherocytosis type 5 [RCV000270985] Chr15:43215172 [GRCh38]
Chr15:43507370 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.2122A>G (p.Asn708Asp) single nucleotide variant Spherocytosis type 5 [RCV000379941] Chr15:43197346 [GRCh38]
Chr15:43489544 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.1167C>T (p.Val389=) single nucleotide variant Spherocytosis type 5 [RCV000402237] Chr15:43207440 [GRCh38]
Chr15:43499638 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.300C>T (p.Ser100=) single nucleotide variant Spherocytosis type 5 [RCV000293212] Chr15:43215315 [GRCh38]
Chr15:43507513 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.1165+7C>A single nucleotide variant Spherocytosis, Recessive [RCV000298082] Chr15:43208223 [GRCh38]
Chr15:43500421 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.1285T>C (p.Cys429Arg) single nucleotide variant Spherocytosis type 5 [RCV000299435] Chr15:43207322 [GRCh38]
Chr15:43499520 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_001114134.1(EPB42):c.-242C>G single nucleotide variant Spherocytosis, Recessive [RCV000343244] Chr15:43221067 [GRCh38]
Chr15:43513265 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.*21T>A single nucleotide variant Spherocytosis type 5 [RCV000323055] Chr15:43197281 [GRCh38]
Chr15:43489479 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.1476C>T (p.Asn492=) single nucleotide variant Spherocytosis type 5 [RCV000345535] Chr15:43206562 [GRCh38]
Chr15:43498760 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.802G>C (p.Glu268Gln) single nucleotide variant Spherocytosis type 5 [RCV000272080] Chr15:43209394 [GRCh38]
Chr15:43501592 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.1355G>T (p.Gly452Val) single nucleotide variant Spherocytosis type 5 [RCV000349103] Chr15:43207252 [GRCh38]
Chr15:43499450 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.267G>A (p.Val89=) single nucleotide variant Spherocytosis type 5 [RCV000350092] Chr15:43216287 [GRCh38]
Chr15:43508485 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_001114134.1(EPB42):c.-261G>T single nucleotide variant Spherocytosis, Recessive [RCV000398814] Chr15:43221086 [GRCh38]
Chr15:43513284 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.100+7G>A single nucleotide variant Spherocytosis type 5 [RCV000374411] Chr15:43220719 [GRCh38]
Chr15:43512917 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.1255A>C (p.Ile419Leu) single nucleotide variant Spherocytosis type 5 [RCV000356581] Chr15:43207352 [GRCh38]
Chr15:43499550 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.520+12C>T single nucleotide variant Spherocytosis type 5 [RCV000381808] Chr15:43215083 [GRCh38]
Chr15:43507281 [GRCh37]
Chr15:15q15.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000119.3(EPB42):c.70C>T (p.Pro24Ser) single nucleotide variant Spherocytosis type 5 [RCV000334960] Chr15:43220756 [GRCh38]
Chr15:43512954 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.1751G>A (p.Arg584Gln) single nucleotide variant Spherocytosis type 5 [RCV000384712] Chr15:43203233 [GRCh38]
Chr15:43495431 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.436C>T (p.His146Tyr) single nucleotide variant Spherocytosis type 5 [RCV000333029] Chr15:43215179 [GRCh38]
Chr15:43507377 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_001114134.1(EPB42):c.-283G>A single nucleotide variant Spherocytosis, Recessive [RCV000308808] Chr15:43221108 [GRCh38]
Chr15:43513306 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.1705C>A (p.Leu569Met) single nucleotide variant Spherocytosis, Recessive [RCV000288097] Chr15:43206333 [GRCh38]
Chr15:43498531 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.1310C>T (p.Thr437Ile) single nucleotide variant Spherocytosis type 5 [RCV000396710] Chr15:43207297 [GRCh38]
Chr15:43499495 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.991C>T (p.Arg331Cys) single nucleotide variant Spherocytosis type 5 [RCV000301617] Chr15:43208707 [GRCh38]
Chr15:43500905 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_001114134.2(EPB42):c.1173C>T (p.Ala391=) single nucleotide variant Spherocytosis type 5 [RCV001120086] Chr15:43207344 [GRCh38]
Chr15:43499542 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_001114134.2(EPB42):c.1041G>T (p.Gln347His) single nucleotide variant Spherocytosis type 5 [RCV001120088] Chr15:43208264 [GRCh38]
Chr15:43500462 [GRCh37]
Chr15:15q15.2
uncertain significance
GRCh37/hg19 15q15.2-15.3(chr15:43268878-43744411)x3 copy number gain See cases [RCV000446250] Chr15:43268878..43744411 [GRCh37]
Chr15:15q15.2-15.3
uncertain significance
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)x1 copy number loss See cases [RCV000447035] Chr15:42850434..49592633 [GRCh37]
Chr15:15q15.2-21.2
pathogenic
GRCh37/hg19 15q15.2-15.3(chr15:43267383-43770334)x3 copy number gain See cases [RCV000448124] Chr15:43267383..43770334 [GRCh37]
Chr15:15q15.2-15.3
uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1 copy number loss See cases [RCV000448968] Chr15:41689327..52446981 [GRCh37]
Chr15:15q15.1-21.2
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
NM_000119.3(EPB42):c.2009G>A (p.Arg670His) single nucleotide variant not provided [RCV000507465] Chr15:43197459 [GRCh38]
Chr15:43489657 [GRCh37]
Chr15:15q15.2
uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
NM_000119.3(EPB42):c.1043G>T (p.Gly348Val) single nucleotide variant Spherocytosis type 5 [RCV001000763] Chr15:43208655 [GRCh38]
Chr15:43500853 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.1622T>C (p.Ile541Thr) single nucleotide variant Spherocytosis type 5 [RCV001002031] Chr15:43206416 [GRCh38]
Chr15:43498614 [GRCh37]
Chr15:15q15.2
uncertain significance
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_000119.3(EPB42):c.642C>T (p.Phe214=) single nucleotide variant not provided [RCV000761908] Chr15:43210437 [GRCh38]
Chr15:43502635 [GRCh37]
Chr15:15q15.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001114134.2(EPB42):c.137G>A (p.Arg46His) single nucleotide variant Spherocytosis type 5 [RCV001116917] Chr15:43216327 [GRCh38]
Chr15:43508525 [GRCh37]
Chr15:15q15.2
uncertain significance
NC_000015.10:g.43197220C>T single nucleotide variant Spherocytosis type 5 [RCV001115402] Chr15:43197220 [GRCh38]
Chr15:43489418 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.1772del (p.Phe591fs) deletion Spherocytosis type 5 [RCV000778430] Chr15:43203212 [GRCh38]
Chr15:43495410 [GRCh37]
Chr15:15q15.2
uncertain significance
GRCh37/hg19 15q15.2-15.3(chr15:43062580-43744411)x1 copy number loss not provided [RCV000849506] Chr15:43062580..43744411 [GRCh37]
Chr15:15q15.2-15.3
uncertain significance
GRCh37/hg19 15q15.2-15.3(chr15:43118272-43668969)x3 copy number gain not provided [RCV000848182] Chr15:43118272..43668969 [GRCh37]
Chr15:15q15.2-15.3
uncertain significance
GRCh37/hg19 15q15.2-15.3(chr15:43062580-43737484)x1 copy number loss not provided [RCV000848497] Chr15:43062580..43737484 [GRCh37]
Chr15:15q15.2-15.3
uncertain significance
NM_001114134.2(EPB42):c.1964C>T (p.Thr655Met) single nucleotide variant Spherocytosis type 5 [RCV001115403] Chr15:43197414 [GRCh38]
Chr15:43489612 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_001114134.2(EPB42):c.1636G>A (p.Gly546Ser) single nucleotide variant Spherocytosis type 5 [RCV001118554] Chr15:43203258 [GRCh38]
Chr15:43495456 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_001114134.2(EPB42):c.1318+3A>G single nucleotide variant Spherocytosis type 5 [RCV001118557] Chr15:43207196 [GRCh38]
Chr15:43499394 [GRCh37]
Chr15:15q15.2
uncertain significance
GRCh37/hg19 15q15.2-15.3(chr15:43277078-43634358)x3 copy number gain not provided [RCV000848263] Chr15:43277078..43634358 [GRCh37]
Chr15:15q15.2-15.3
uncertain significance
GRCh37/hg19 15q15.2-15.3(chr15:43420601-44198616)x3 copy number gain not provided [RCV001006684] Chr15:43420601..44198616 [GRCh37]
Chr15:15q15.2-15.3
uncertain significance
NM_000119.3(EPB42):c.1477G>A (p.Gly493Ser) single nucleotide variant Spherocytosis type 5 [RCV001118556]|not provided [RCV000995313] Chr15:43206561 [GRCh38]
Chr15:43498759 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_001114134.2(EPB42):c.1075+14G>A single nucleotide variant Spherocytosis type 5 [RCV001120087] Chr15:43208216 [GRCh38]
Chr15:43500414 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.1762G>A (p.Glu588Lys) single nucleotide variant not provided [RCV000957267] Chr15:43203222 [GRCh38]
Chr15:43495420 [GRCh37]
Chr15:15q15.2
likely benign
NM_000119.3(EPB42):c.831C>A (p.Gly277=) single nucleotide variant not provided [RCV000957268] Chr15:43209365 [GRCh38]
Chr15:43501563 [GRCh37]
Chr15:15q15.2
benign
GRCh37/hg19 15q15.2-15.3(chr15:43017718-43685171)x3 copy number gain not provided [RCV001006682] Chr15:43017718..43685171 [GRCh37]
Chr15:15q15.2-15.3
uncertain significance
NM_001114134.2(EPB42):c.1244G>C (p.Gly415Ala) single nucleotide variant Spherocytosis type 5 [RCV001120085] Chr15:43207273 [GRCh38]
Chr15:43499471 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.1214C>T (p.Thr405Met) single nucleotide variant Spherocytosis type 5 [RCV001000900] Chr15:43207393 [GRCh38]
Chr15:43499591 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_000119.3(EPB42):c.1097G>A (p.Arg366Gln) single nucleotide variant Spherocytosis type 5 [RCV001001290] Chr15:43208298 [GRCh38]
Chr15:43500496 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_001114134.2(EPB42):c.860G>A (p.Arg287His) single nucleotide variant Spherocytosis type 5 [RCV001120393] Chr15:43208748 [GRCh38]
Chr15:43500946 [GRCh37]
Chr15:15q15.2
uncertain significance
NM_001114134.2(EPB42):c.1602G>A (p.Thr534=) single nucleotide variant Spherocytosis type 5 [RCV001118555] Chr15:43206346 [GRCh38]
Chr15:43498544 [GRCh37]
Chr15:15q15.2
uncertain significance
GRCh37/hg19 15q15.2-15.3(chr15:43135272-43744542)x1 copy number loss not provided [RCV001259209] Chr15:43135272..43744542 [GRCh37]
Chr15:15q15.2-15.3
likely pathogenic
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1
uncertain significance
NM_001114134.2(EPB42):c.1278C>A (p.Asp426Glu) single nucleotide variant not provided [RCV001358064] Chr15:43207239 [GRCh38]
Chr15:43499437 [GRCh37]
Chr15:15q15.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3381 AgrOrtholog
COSMIC EPB42 COSMIC
Ensembl Genes ENSG00000166947 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000396616 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000444699 UniProtKB/TrEMBL
  ENSP00000455489 UniProtKB/TrEMBL
  ENSP00000457757 UniProtKB/TrEMBL
  ENSP00000497777 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000441366 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000540029 UniProtKB/TrEMBL
  ENST00000565459 UniProtKB/TrEMBL
  ENST00000569204 UniProtKB/TrEMBL
  ENST00000648595 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.260.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000166947 GTEx
HGNC ID HGNC:3381 ENTREZGENE
Human Proteome Map EPB42 Human Proteome Map
InterPro Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_E-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Papain-like_cys_pep_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transglutaminase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transglutaminase-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transglutaminase_animal UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transglutaminase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transglutaminase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transglutaminase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transglutaminase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2038 UniProtKB/Swiss-Prot
NCBI Gene 2038 ENTREZGENE
OMIM 177070 OMIM
  612690 OMIM
Pfam Transglut_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transglut_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transglut_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27814 PharmGKB
PIRSF TGM_EBP42 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TRANSGLUTAMINASES UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TGc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49309 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54001 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81296 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt EPB42_HUMAN UniProtKB/Swiss-Prot
  F5H563_HUMAN UniProtKB/TrEMBL
  H3BPV8_HUMAN UniProtKB/TrEMBL
  H3BUR1_HUMAN UniProtKB/TrEMBL
  P16452 ENTREZGENE
  Q4VB96_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q4KKX0 UniProtKB/Swiss-Prot
  Q4VB97 UniProtKB/Swiss-Prot