ENSG00000166947


Homo sapiens

Features
Gene ID: ENSG00000166947
  
Biological name :EPB42
  
Synonyms : EPB42 / erythrocyte membrane protein band 4.2 / P16452
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: -1
Band: q15.2
Gene start: 43197227
Gene end: 43221125
  
Corresponding Affymetrix probe sets: 210746_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000481226
Ensembl peptide - ENSP00000457140
Ensembl peptide - ENSP00000457757
Ensembl peptide - ENSP00000396616
Ensembl peptide - ENSP00000444699
Ensembl peptide - ENSP00000455489
NCBI entrez gene - 2038     See in Manteia.
OMIM - 177070
RefSeq - XM_011521354
RefSeq - NM_001114134
RefSeq - XM_005254225
RefSeq - XM_011521349
RefSeq - XM_011521350
RefSeq - XM_011521351
RefSeq - XM_011521352
RefSeq - XM_011521353
RefSeq - NM_000119
RefSeq Peptide - NP_000110
RefSeq Peptide - NP_001107606
swissprot - H3BUR1
swissprot - H3BPV8
swissprot - F5H563
swissprot - P16452
swissprot - H3BTE6
Ensembl - ENSG00000166947
  
Related genetic diseases (OMIM): 612690 - Spherocytosis, type 5, 612690
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tgm5lENSDARG00000098837Danio rerio
 tgm8ENSDARG00000097651Danio rerio
 EPB42ENSGALG00000021230Gallus gallus
 Epb42ENSMUSG00000023216Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TGM7 / Q96PF1 / transglutaminase 7ENSG0000015949532
TGM5 / O43548 / transglutaminase 5ENSG0000010405531
TGM2 / P21980 / transglutaminase 2ENSG0000019895931
TGM6 / O95932 / transglutaminase 6ENSG0000016694830
TGM3 / Q08188 / transglutaminase 3ENSG0000012578029
TGM4 / P49221 / transglutaminase 4ENSG0000016381026
TGM1 / P22735 / transglutaminase 1ENSG0000009229526
F13A1 / P00488 / coagulation factor XIII A chainENSG0000012449125


Protein motifs (from Interpro)
Interpro ID Name
 IPR001102  Transglutaminase, N-terminal
 IPR002931  Transglutaminase-like
 IPR008958  Transglutaminase, C-terminal
 IPR013783  Immunoglobulin-like fold
 IPR013808  Transglutaminase, active site
 IPR014756  Immunoglobulin E-set
 IPR023608  Protein-glutamine gamma-glutamyltransferase, animal
 IPR036238  Transglutaminase, C-terminal domain superfamily
 IPR036985  Transglutaminase-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000902 cell morphogenesis IEA
 biological_processGO:0007010 cytoskeleton organization IEA
 biological_processGO:0008360 regulation of cell shape IEA
 biological_processGO:0018149 peptide cross-linking IEA
 biological_processGO:0020027 hemoglobin metabolic process IEA
 biological_processGO:0043249 erythrocyte maturation IEA
 biological_processGO:0048536 spleen development IEA
 biological_processGO:0050801 ion homeostasis IEA
 biological_processGO:0055072 iron ion homeostasis IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030863 cortical cytoskeleton IEA
 molecular_functionGO:0003810 protein-glutamine gamma-glutamyltransferase activity IEA
 molecular_functionGO:0005200 structural constituent of cytoskeleton TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding TAS


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001878 Hemolytic anemia 
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 HP:0004444 Spherocytosis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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