ENSG00000135365


Homo sapiens

Features
Gene ID: ENSG00000135365
  
Biological name :PHF21A
  
Synonyms : PHD finger protein 21A / PHF21A / Q96BD5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: p11.2
Gene start: 45929323
Gene end: 46121178
  
Corresponding Affymetrix probe sets: 1554153_a_at (Human Genome U133 Plus 2.0 Array)   1558965_at (Human Genome U133 Plus 2.0 Array)   203278_s_at (Human Genome U133 Plus 2.0 Array)   227090_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000431964
Ensembl peptide - ENSP00000431621
Ensembl peptide - ENSP00000432094
Ensembl peptide - ENSP00000437110
Ensembl peptide - ENSP00000436157
Ensembl peptide - ENSP00000435984
Ensembl peptide - ENSP00000435645
Ensembl peptide - ENSP00000435121
Ensembl peptide - ENSP00000434687
Ensembl peptide - ENSP00000432916
Ensembl peptide - ENSP00000432406
Ensembl peptide - ENSP00000323152
Ensembl peptide - ENSP00000398824
Ensembl peptide - ENSP00000431273
NCBI entrez gene - 51317     See in Manteia.
OMIM - 608325
RefSeq - XM_017017908
RefSeq - XM_017017891
RefSeq - XM_017017892
RefSeq - XM_017017893
RefSeq - XM_017017894
RefSeq - XM_017017895
RefSeq - XM_017017896
RefSeq - XM_017017897
RefSeq - XM_017017898
RefSeq - XM_017017899
RefSeq - XM_017017900
RefSeq - XM_017017901
RefSeq - XM_017017902
RefSeq - XM_017017903
RefSeq - XM_017017904
RefSeq - XM_017017905
RefSeq - XM_017017906
RefSeq - XM_017017907
RefSeq - NM_001101802
RefSeq - NM_016621
RefSeq - XM_005252965
RefSeq - XM_011520157
RefSeq - XM_011520158
RefSeq - XM_011520160
RefSeq - XM_011520161
RefSeq - XM_011520162
RefSeq - XM_011520164
RefSeq - XM_011520165
RefSeq - XM_011520166
RefSeq - XM_011520167
RefSeq - XM_011520168
RefSeq - XM_011520169
RefSeq - XM_011520173
RefSeq - XM_011520174
RefSeq - XM_011520175
RefSeq - XM_011520179
RefSeq - XM_017017885
RefSeq - XM_017017886
RefSeq - XM_017017887
RefSeq - XM_017017888
RefSeq - XM_017017889
RefSeq - XM_017017890
RefSeq Peptide - NP_001095272
RefSeq Peptide - NP_001338957
RefSeq Peptide - NP_001338958
RefSeq Peptide - NP_057705
swissprot - E9PNN4
swissprot - E9PLV4
swissprot - E9PLU5
swissprot - A0A1D5RMU1
swissprot - E9PS51
swissprot - H0YCM5
swissprot - H0YEK2
swissprot - Q96BD5
swissprot - A0A1B0GX09
swissprot - H0YCI1
swissprot - E9PR02
swissprot - E9PQM3
swissprot - E9PNW9
Ensembl - ENSG00000135365
  
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
 phf21abENSDARG00000021378Danio rerio
 PHF21AENSGALG00000008403Gallus gallus
 Phf21aENSMUSG00000058318Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PHF21B / Q96EK2 / PHD finger protein 21BENSG0000005648726


Protein motifs (from Interpro)
Interpro ID Name
 IPR001965  Zinc finger, PHD-type
 IPR011011  Zinc finger, FYVE/PHD-type
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR019786  Zinc finger, PHD-type, conserved site
 IPR019787  Zinc finger, PHD-finger


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006325 chromatin organization IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IBA
 biological_processGO:0007596 blood coagulation TAS
 biological_processGO:0016575 histone deacetylation IEA
 cellular_componentGO:0000118 histone deacetylase complex IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:1990391 DNA repair complex IDA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding IEA
 molecular_functionGO:0003712 transcription coregulator activity IBA
 molecular_functionGO:0004407 histone deacetylase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042393 histone binding IBA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
HDACs deacetylate histones
Factors involved in megakaryocyte development and platelet production


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000054 Micropenis 
Show

 HP:0000248 Brachycephaly "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators]
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 HP:0000286 Epicanthus "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators]
Show

 HP:0000322 Short philtrum 
Show

 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
Show

 HP:0000426 Prominent nasal bridge 
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 HP:0000430 Hypoplastic nasal alae "Thinned, deficient, or excessively arched `ala nasi` (FMA:59519)." [pmid:19152422]
Show

 HP:0000437 Flat nasal tip 
Show

 HP:0000455 Broad nasal tip 
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 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
Show

 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0000821 Hypothyroidism 
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
Show

 HP:0000823 Delayed puberty 
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001903 Anemia 
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 HP:0002667 Nephroblastoma (Wilms tumor) "A kind of renal tumor primarily affecting children. It is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblatoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever." [HPO:curators]
Show

 HP:0002697 Parietal foramina 
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 HP:0002714 Downturned corners of mouth "A morphological `abnormality of the mouth` (HP:0000153) in which the `angle of the mouth` (FMA:77269) is downturned." [HPO:probinson]
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 HP:0004331 Decreased skull ossification "A reduction in the magnitude or amount of ossification of the skull." [HPO:curators]
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 HP:0100777 Exostoses 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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contact: otassy@igbmc.fr