Property Summary

NCBI Gene PubMed Count 10
PubMed Score 6.64
PubTator Score 3.74

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

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  

  Ortholog (15)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA Inparanoid
Cow OMA Inparanoid
Pig OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG Inparanoid
Chicken OMA EggNOG Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA EggNOG Inparanoid
Zebrafish EggNOG Inparanoid
C. elegans OMA Inparanoid

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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