Property Summary

NCBI Gene PubMed Count 10
PubMed Score 3.23
PubTator Score 1.27

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
ovarian cancer 8492 1.35379752482729E-14
diabetes mellitus 1663 0.00181857054025335
Disease Target Count
HIP DYSPLASIA, BEUKES TYPE 1
Disease Target Count
Beukes familial hip dysplasia 1

Expression

  Differential Expression (2)

Disease log2 FC p
diabetes mellitus -1.200 0.002
ovarian cancer -3.400 0.000

Synonym

Accession Q9NUQ7 Q6IA77 Q96FS3 UfSP2
Symbols BHD
C4orf20

Gene

  Ortholog (11)

Pathway (1)

AA Sequence

MVISESMDILFRIRGGLDLAFQLATPNEIFLKKALKHVLSDLSTKLSSNALVFRICHSSVYIWPSSDINT      1 - 70
IPGELTDASACKNILRFIQFEPEEDIKRKFMRKKDKKLSDMHQIVNIDLMLEMSTSLAAVTPIIERESGG     71 - 140
HHYVNMTLPVDAVISVAPEETWGKVRKLLVDAIHNQLTDMEKCILKYMKGTSIVVPEPLHFLLPGKKNLV    141 - 210
TISYPSGIPDGQLQAYRKELHDLFNLPHDRPYFKRSNAYHFPDEPYKDGYIRNPHTYLNPPNMETGMIYV    211 - 280
VQGIYGYHHYMQDRIDDNGWGCAYRSLQTICSWFKHQGYTERSIPTHREIQQALVDAGDKPATFVGSRQW    281 - 350
IGSIEVQLVLNQLIGITSKILFVSQGSEIASQGRELANHFQSEGTPVMIGGGVLAHTILGVAWNEITGQI    351 - 420
KFLILDPHYTGAEDLQVILEKGWCGWKGPDFWNKDAYYNLCLPQRPNMI                         421 - 469
//

Text Mined References (12)

PMID Year Title
26428751 2015 Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia.
25219498 2014 Modification of ASC1 by UFM1 is crucial for ER? transactivation and breast cancer development.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
17182609 2007 Two novel ubiquitin-fold modifier 1 (Ufm1)-specific proteases, UfSP1 and UfSP2.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
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