SMARCD2
entrez
6603
canonical
uniprot
Q92925
canonical
ensembl
ENSG00000108604
resolver
ensp
ENSP00000225742
resolver
ensp
ENSP00000318451
resolver
ensp
ENSP00000392617
resolver
enst
ENST00000225742
resolver
genesymbol
SMARCD2
resolver
genesymbol_syn
BAF60B
resolver
hgnc
HGNC:11107
resolver
uniprot
A5PLL5
resolver
uniprot
A6NNQ7
resolver
uniprot
B4DV56
resolver
uniprot
B4E1R6
resolver
uniprot
J3KMX2
resolver
uniprot
Q7L2I6
resolver
uniprot
Q9UHZ1
resolver
uniprot_entry
J3KMX2_HUMAN
resolver
uniprot_entry
SMRD2_HUMAN
resolver
uniprot_sec
A5PLL5
resolver
uniprot_sec
A6NNQ7
resolver
uniprot_sec
B4DV56
resolver
uniprot_sec
B4E1R6
resolver
uniprot_sec
Q7L2I6
resolver
uniprot_sec
Q9UHZ1
resolver
amino_acid_sequence
MSGRGAGGFPLPPLSPGGGAVAAALGAPPPPAGPGMLPGPALRGPGPAGGVGGPGAAAFRPMGPAGPAAQYQRPGMSPGNRMPMAGLQVGPPAGSPFGAAAPLRPGMPPTMMDPFRKRLLVPQAQPPMPAQRRGLKRRKMADKVLPQRIRELVPESQAYMDLLAFERKLDQTIARKRMEIQEAIKKPLTQKRKLRIYISNTFSPSKAEGDSAGTAGTPGGTPAGDKVASWELRVEGKLLDDPSKQKRKFSSFFKSLVIELDKELYGPDNHLVEWHRMPTTQETDGFQVKRPGDLNVKCTLLLMLDHQPPQYKLDPRLARLLGVHTQTRAAIMQALWLYIKHNQLQDGHEREYINCNRYFRQIFSCGRLRFSEIPMKLAGLLQHPDPIVINHVISVDPNDQKKTACYDIDVEVDDPLKAQMSNFLASTTNQQEIASLDVKIHETIESINQLKTQRDFMLSFSTDPQDFIQEWLRSQRRDLKIITDVIGNPEEERRAAFYHQPWAQEAVGRHIFAKVQQRRQELEQVLGIRLT
uniprot
proteins
disease_involvement
DISEASE: Specific granule deficiency 2 (SGD2) [MIM:617475]: A form of specific granule deficiency, an autosomal recessive disorder characterized by recurrent pyogenic infections, defective neutrophil chemotaxis and bactericidal activity, and lack of neutrophil secondary granule proteins. SGD2 is due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies. {ECO:0000269|PubMed:28369036}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:22952240, PubMed:26601204). Critical regulator of myeloid differentiation, controlling granulocytopoiesis and the expression of genes involved in neutrophil granule formation (PubMed:28369036). {ECO:0000269|PubMed:28369036, ECO:0000303|PubMed:22952240, ECO:0000303|PubMed:26601204}.
uniprot
proteins
mass_dalton
58921
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated through a signaling process involving RAC1 and the RING finger protein UNKL. {ECO:0000269|PubMed:20148946}.
uniprot
proteins
protein_family
SMARCD family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18765789
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20148946
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22952240
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26601204
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28369036
uniprot
proteins
pubmed
8804307
uniprot
proteins
sequence_length
531
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins