KEGG   Homo sapiens (human): 8220
Entry
8220              CDS       T01001                                 
Symbol
ESS2, DGCR13, DGCR14, DGS-H, DGS-I, DGSH, DGSI, ES2, ESS-2, Es2el, bis1
Name
(RefSeq) ess-2 splicing factor homolog
  KO
K13118  protein DGCR14
Organism
hsa  Homo sapiens (human)
Disease
H01004  Velocardiofacial syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03041 Spliceosome [BR:hsa03041]
    8220 (ESS2)
Spliceosome [BR:hsa03041]
 Complex C
  Other components
   Complex C specific factors
    8220 (ESS2)
SSDB
Motif
Pfam: Es2
Other DBs
NCBI-GeneID: 8220
NCBI-ProteinID: NP_073210
OMIM: 601755
HGNC: 16817
Ensembl: ENSG00000100056
UniProt: Q96DF8
Structure
Position
22:complement(19130279..19144651)
AA seq 476 aa
METPGASASSLLLPAASRPPRKREAGEAGAATSKQRVLDEEEYIEGLQTVIQRDFFPDVE
KLQAQKEYLEAEENGDLERMRQIAIKFGSALGKMSREPPPPYVTPATFETPEVHAGTGVV
GNKPRPRGRGLEDGEAGEEEEKEPLPSLDVFLSRYTSEDNASFQEIMEVAKERSRARHAW
LYQAEEEFEKRQKDNLELPSAEHQAIESSQASVETWKYKAKNSLMYYPEGVPDEEQLFKK
PRQVVHKNTRFLRDPFSQALSRCQLQQAAALNAQHKQGKVGPDGKELIPQESPRVGGFGF
VATPSPAPGVNESPMMTWGEVENTPLRVEGSETPYVDRTPGPAFKILEPGRRERLGLKMA
NEAAAKNRAKKQEALRRVTENLASLTPKGLSPAMSPALQRLVSRTASKYTDRALRASYTP
SPARSTHLKTPASGLQTPTSTPAPGSATRTPLTQDPASITDNLLQLPARRKASDFF
NT seq 1431 nt   +upstreamnt  +downstreamnt
atggagacgccgggcgcatcagcgtcgtccttgttgcttcccgccgcgtccaggcccccg
aggaagcgcgaggcgggagaggctggggctgcgacgagcaagcagcgggtcctggacgag
gaagagtatatcgagggcctccagacggtcatccaaagggatttctttcctgatgtggag
aagctccaggcacagaaggagtacctggaagccgaggagaatggagacttggaacggatg
cgccagattgccatcaagtttggctctgccttgggcaagatgtcccgggagcccccgcca
ccctatgtgactccagccacatttgaaacccctgaggtgcatgcaggcactggagtggtg
ggcaacaagcccaggccccgcggccgaggcctggaggatggagaggctggagaggaggag
gagaaggagccgctgcccagcctagatgtcttcctgagccgctacacgagtgaggacaat
gcctccttccaggagatcatggaggtggccaaggagagaagccgggcacgccacgcttgg
ctctaccaggctgaggaagagtttgagaagaggcagaaagataatctcgaactcccgtca
gcagagcaccaggccatcgagagcagccaggccagtgtggagacctggaagtacaaggcc
aagaattccctcatgtactatccagagggtgtccctgacgaggagcagctgtttaagaag
ccccggcaggtggtacataagaacacgcgcttccttagggaccccttcagccaagccctg
agcaggtgccagctccagcaggcagccgccctcaatgcccagcacaaacagggcaaggtg
ggccccgatggcaaggagctgatcccccaggagtcccctcgagtgggtggatttggattt
gttgccactccttcccctgcccctggtgtgaacgagtccccgatgatgacctggggggag
gttgagaacacacccttgagagttgaagggtcggaaacgccctacgtggacaggacaccc
ggcccagcttttaagatcctggagccaggccgcagggagcggctgggtctgaagatggcc
aacgaggccgctgccaagaaccgggccaagaagcaggaagccttgcggagagtgacggag
aatctggccagcctcacccccaaaggcctgagcccagccatgtcgccagccctacagcgc
cttgtgagcaggacggccagcaagtacacagaccgggccctgcgggccagctacacacca
tccccagcacgctccacccacctcaagaccccggccagtgggctgcagacccccacaagc
acaccggcgcctggctctgccacacgcacccctctcacacaggacccggcctccatcacg
gacaacctgctgcagctccctgcccggcgcaaagcttcggacttcttttag

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (14)   
   KEGG ORTHOLOGY (1)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
Protein sequence (13)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (11)   
DNA sequence (42)   
   RefSeq(nuc) (12)   
   GenBank (15)   
   EMBL (15)   
3D Structure (1)   
   PDB (1)   
Protein domain (1)   
   Pfam (1)   
All databases (77)   

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