SMARCD2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2)

2003-05-01  

Identity

HGNC
SMARCD2
LOCATION
17q23.3
LOCUSID
6603
ALIAS
BAF60B,CRACD2,PRO2451,Rsc6p,SGD2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6603
MIM: 601736
HGNC: 11107
Ensembl: ENSG00000108604

Variants:

dbSNP: 6603
ClinVar: 6603
TCGA: ENSG00000108604
COSMIC: SMARCD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108604ENST00000225742J3KMX2
ENSG00000108604ENST00000323347Q92925
ENSG00000108604ENST00000448276Q92925
ENSG00000108604ENST00000450364J3QWB6
ENSG00000108604ENST00000577990J3KT18
ENSG00000108604ENST00000580054J3QQL7
ENSG00000108604ENST00000584400J3QS33
ENSG00000108604ENST00000613943B9EGA3

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
RMTs methylate histone argininesREACTOMER-HSA-3214858

References

Pubmed IDYearTitleCitations
330253772021Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis.2
332795742021Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2.4
330253772021Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis.2
332795742021Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2.4
283690342017SMARCD2 subunit of SWI/SNF chromatin-remodeling complexes mediates granulopoiesis through a CEBPɛ dependent mechanism.33
283690362017Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes.41
283690342017SMARCD2 subunit of SWI/SNF chromatin-remodeling complexes mediates granulopoiesis through a CEBPɛ dependent mechanism.33
283690362017Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes.41
265715052015SWI/SNF Subunits SMARCA4, SMARCD2 and DPF2 Collaborate in MLL-Rearranged Leukaemia Maintenance.10
265715052015SWI/SNF Subunits SMARCA4, SMARCD2 and DPF2 Collaborate in MLL-Rearranged Leukaemia Maintenance.10
201489462010The SWI/SNF protein BAF60b is ubiquitinated through a signalling process involving Rac GTPase and the RING finger protein Unkempt.15
201489462010The SWI/SNF protein BAF60b is ubiquitinated through a signalling process involving Rac GTPase and the RING finger protein Unkempt.15

Citation

Dessen P

SMARCD2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/42337/smarcd2-(swi-snf-related-matrix-associated-actin-dependent-regulator-of-chromatin-subfamily-d-member-2)