Property Summary

NCBI Gene PubMed Count 10
PubMed Score 6.64
PubTator Score 3.74

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
medulloblastoma, large-cell -1.200 0.000
diabetes mellitus -1.100 0.001
ovarian cancer -1.300 0.000

Synonym

Accession Q9Y5W7 B4DI55 Q4VBR3 Q5TCF9 Q5TCG0 Q6NUI7 Q6PI37 Q9BSD1
Symbols SCAR20
RGS-PX2

Gene

PANTHER Protein Class (2)

PDB

4BGJ   4PQO   4PQP  

Gene RIF (3)

PMID Text
25848753 A unique ataxia syndrome due to biallelic SNX14 mutations leading to lysosome-autophagosome dysfunction.
25439728 Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
25148684 SNX19 and SNX14 PX domains reveal key differences in spatial control of RGS-PX proteins in cell signaling and trafficking.

AA Sequence

MVPWVRTMGQKLKQRLRLDVGREICRQYPLFCFLLLCLSAASLLLNRYIHILMIFWSFVAGVVTFYCSLG      1 - 70
PDSLLPNIFFTIKYKPKQLGLQELFPQGHSCAVCGKVKCKRHRPSLLLENYQPWLDLKISSKVDASLSEV     71 - 140
LELVLENFVYPWYRDVTDDESFVDELRITLRFFASVLIRRIHKVDIPSIITKKLLKAAMKHIEVIVKARQ    141 - 210
KVKNTEFLQQAALEEYGPELHVALRSRRDELHYLRKLTELLFPYILPPKATDCRSLTLLIREILSGSVFL    211 - 280
PSLDFLADPDTVNHLLIIFIDDSPPEKATEPASPLVPFLQKFAEPRNKKPSVLKLELKQIREQQDLLFRF    281 - 350
MNFLKQEGAVHVLQFCLTVEEFNDRILRPELSNDEMLSLHEELQKIYKTYCLDESIDKIRFDPFIVEEIQ    351 - 420
RIAEGPYIDVVKLQTMRCLFEAYEHVLSLLENVFTPMFCHSDEYFRQLLRGAESPTRNSKLNRGSLSLDD    421 - 490
FRNTQKRGESFGISRIGSKIKGVFKSTTMEGAMLPNYGVAEGEDDFIEEGIVVMEDDSPVEAVSTPNTPR    491 - 560
NLAAWKISIPYVDFFEDPSSERKEKKERIPVFCIDVERNDRRAVGHEPEHWSVYRRYLEFYVLESKLTEF    561 - 630
HGAFPDAQLPSKRIIGPKNYEFLKSKREEFQEYLQKLLQHPELSNSQLLADFLSPNGGETQFLDKILPDV    631 - 700
NLGKIIKSVPGKLMKEKGQHLEPFIMNFINSCESPKPKPSRPELTILSPTSENNKKLFNDLFKNNANRAE    701 - 770
NTERKQNQNYFMEVMTVEGVYDYLMYVGRVVFQVPDWLHHLLMGTRILFKNTLEMYTDYYLQCKLEQLFQ    771 - 840
EHRLVSLITLLRDAIFCENTEPRSLQDKQKGAKQTFEEMMNYIPDLLVKCIGEETKYESIRLLFDGLQQP    841 - 910
VLNKQLTYVLLDIVIQELFPELNKVQKEVTSVTSWM                                      911 - 946
//

Text Mined References (12)

PMID Year Title
25848753 2015 Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
25439728 2014 Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
25148684 2014 Structural basis for different phosphoinositide specificities of the PX domains of sorting nexins regulating G-protein signaling.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12461558 2002 Sorting out the cellular functions of sorting nexins.
11736640 2001 The Phox homology (PX) domain, a new player in phosphoinositide signalling.
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