Property Summary

NCBI Gene PubMed Count 10
Grant Count 4
R01 Count 4
Funding $172,361.43
PubMed Score 23.85
PubTator Score 7.83

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
psoriasis 1.100 0.006
tuberculosis 1.100 0.000

Synonym

Accession Q9Y664 B3KN86 B4DQ76 Q96GT1
Symbols 2E4
MRT41

Gene

 GO Function (1)

Gene RIF (1)

PMID Text
24239382 We have demonstrated that mutations in KPTN, encoding kaptin, cause a syndrome typified by macrocephaly, neurodevelopmental delay, and seizures.

AA Sequence

MMGEAAVAAGPCPLREDSFTRFSSQSNVYGLAGGAGGRGELLAATLKGKVLGFRYQDLRQKIRPVAKELQ      1 - 70
FNYIPVDAEIVSIDTFNKSPPKRGLVVGITFIKDSGDKGSPFLNIYCDYEPGSEYNLDSIAQSCLNLELQ     71 - 140
FTPFQLCHAEVQVGDQLETVFLLSGNDPAIHLYKENEGLHQFEEQPVENLFPELTNLTSSVLWLDVHNFP    141 - 210
GTSRRLSALGCQSGYVRVAHVDQRSREVLQMWSVLQDGPISRVIVFSLSAAKETKDRPLQDEYSVLVASM    211 - 280
LEPAVVYRDLLNRGLEDQLLLPGSDQFDSVLCSLVTDVDLDGRPEVLVATYGQELLCYKYRGPESGLPEA    281 - 350
QHGFHLLWQRSFSSPLLAMAHVDLTGDGLQELAVVSLKGVHILQHSLIQASELVLTRLRHQVEQRRRRLQ    351 - 420
GLEDGAGAGPAENAAS                                                          421 - 436
//

Publication (12)

PMID Year Title
24239382 2014 Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15057824 2004 The DNA sequence and biology of human chromosome 19.
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.
11409409 2000 2E4/Kaptin (KPTN)--a candidate gene for the hearing loss locus, DFNA4.
10099934 1999 2E4 (kaptin): a novel actin-associated protein from human blood platelets found in lamellipodia and the tips of the stereocilia of the inner ear.
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