DPF2
entrez
5977
canonical
uniprot
Q92785
canonical
ensembl
ENSG00000133884
resolver
ensp
ENSP00000252268
resolver
ensp
ENSP00000436901
resolver
enst
ENST00000252268
resolver
genesymbol
DPF2
resolver
genesymbol_syn
BAF45D
resolver
genesymbol_syn
REQ
resolver
genesymbol_syn
UBID4
resolver
hgnc
HGNC:9964
resolver
uniprot
A8K7C9
resolver
uniprot
B4DT58
resolver
uniprot
J3KMZ8
resolver
uniprot_entry
J3KMZ8_HUMAN
resolver
uniprot_entry
REQU_HUMAN
resolver
uniprot_sec
A8K7C9
resolver
uniprot_sec
B4DT58
resolver
amino_acid_sequence
MAAVVENVVKLLGEQYYKDAMEQCHNYNARLCAERSVRLPFLDSQTGVAQSNCYIWMEKRHRGPGLASGQLYSYPARRWRKKRRAHPPEDPRLSFPSIKPDTDQTLKKEGLISQDGSSLEALLRTDPLEKRGAPDPRVDDDSLGEFPVTNSRARKRILEPDDFLDDLDDEDYEEDTPKRRGKGKSKGKGVGSARKKLDASILEDRDKPYACDICGKRYKNRPGLSYHYAHSHLAEEEGEDKEDSQPPTPVSQRSEEQKSKKGPDGLALPNNYCDFCLGDSKINKKTGQPEELVSCSDCGRSGHPSCLQFTPVMMAAVKTYRWQCIECKCCNICGTSENDDQLLFCDDCDRGYHMYCLTPSMSEPPEGSWSCHLCLDLLKEKASIYQNQNSS
uniprot
proteins
disease_involvement
DISEASE: Coffin-Siris syndrome 7 (CSS7) [MIM:618027]: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. CSS7 inheritance is autosomal dominant. {ECO:0000269|PubMed:29429572}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays an active role in transcriptional regulation by binding modified histones H3 and H4 (PubMed:27775714, PubMed:28533407). Is a negative regulator of myeloid differentiation of hematopoietic progenitor cells (PubMed:28533407). Might also have a role in the development and maturation of lymphoid cells (By similarity). Involved in the regulation of non-canonical NF-kappa-B pathway (PubMed:20460684). {ECO:0000250|UniProtKB:Q61103, ECO:0000269|PubMed:20460684, ECO:0000269|PubMed:27775714, ECO:0000269|PubMed:28533407}.
uniprot
proteins
mass_dalton
44155
uniprot
proteins
mutagenesis
MUTAGEN 275; /note="F->A: Strongly decreased interaction with histones H3 and H4 and loss of function; when associated with A-300 and A-346."; /evidence="ECO:0000269|PubMed:28533407"; MUTAGEN 300; /note="R->A: Strongly decreased interaction with histones H3 and H4 and loss of function; when associated with A-275 and A-346."; /evidence="ECO:0000269|PubMed:28533407"; MUTAGEN 346; /note="D->A: Strongly decreased interaction with histones H3 and H4 and loss of function; when associated with A-275 and A-300."; /evidence="ECO:0000269|PubMed:28533407
uniprot
proteins
protein_family
Requiem/DPF family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20460684
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21888896
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
25772364
uniprot
proteins
pubmed
27775714
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28533407
uniprot
proteins
pubmed
29429572
uniprot
proteins
pubmed
8812431
uniprot
proteins
pubmed
9253601
uniprot
proteins
pubmed
9680388
uniprot
proteins
sequence_length
391
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28533407, ECO:0000269|PubMed:29429572}. Cytoplasm {ECO:0000269|PubMed:28533407}.
uniprot
proteins