ENSG00000108604


Homo sapiens

Features
Gene ID: ENSG00000108604
  
Biological name :SMARCD2
  
Synonyms : Q92925 / SMARCD2 / SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: q23.3
Gene start: 63832081
Gene end: 63843065
  
Corresponding Affymetrix probe sets: 201827_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000464503
Ensembl peptide - ENSP00000463793
Ensembl peptide - ENSP00000483605
Ensembl peptide - ENSP00000225742
Ensembl peptide - ENSP00000318451
Ensembl peptide - ENSP00000392617
Ensembl peptide - ENSP00000398946
Ensembl peptide - ENSP00000462761
NCBI entrez gene - 6603     See in Manteia.
OMIM - 601736
RefSeq - XM_017024967
RefSeq - NM_001098426
RefSeq - NM_001330439
RefSeq - NM_001330440
RefSeq - XM_005257604
RefSeq Peptide - NP_001091896
RefSeq Peptide - NP_001317368
RefSeq Peptide - NP_001317369
swissprot - J3KMX2
swissprot - J3KT18
swissprot - J3QQL7
swissprot - J3QWB6
swissprot - J3QS33
swissprot - Q92925
swissprot - B9EGA3
Ensembl - ENSG00000108604
  
Related genetic diseases (OMIM): 617475 - Specific granule deficiency 2, 617475
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
 smarcd2ENSDARG00000088877Danio rerio
 SMARCD2ENSGALG00000029304Gallus gallus
 Q99JR8ENSMUSG00000078619Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q96GM5 / SMARCD1 / SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1ENSG0000006611761
Q6STE5 / SMARCD3 / SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3ENSG0000008201461


Protein motifs (from Interpro)
Interpro ID Name
 IPR003121  SWIB/MDM2 domain
 IPR019835  SWIB domain
 IPR030090  SWI/SNF complex subunit BAF60B
 IPR036885  SWIB/MDM2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006325 chromatin organization IEA
 biological_processGO:0006337 nucleosome disassembly IDA
 biological_processGO:0006338 chromatin remodeling IDA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II NAS
 biological_processGO:0043044 ATP-dependent chromatin remodeling IEA
 cellular_componentGO:0000790 nuclear chromatin HDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0016514 SWI/SNF complex IEA
 cellular_componentGO:0032991 protein-containing complex HDA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding HDA
 molecular_functionGO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding HDA
 molecular_functionGO:0003713 transcription coactivator activity NAS
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0031492 nucleosomal DNA binding HDA


Pathways (from Reactome)
Pathway description
RMTs methylate histone arginines
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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