Sorting Nexin 14

Alternative Names

  • SNX14
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OMIM Number

616105

NCBI Gene ID

57231

Uniprot ID

Q9Y5W7

Length

88,661 bases

No. of Exons

31

No. of isoforms

4

Protein Name

Sorting nexin-14

Molecular Mass

110182 Da

Amino Acid Count

946

Genomic Location

chr6:85,505,496-85,594,156

Gene Map Locus
6q14.3

Description

This gene encodes a member of the sorting nexin family. Members of this family have a phox (PX) phosphoinositide binding domain and are involved in intracellular trafficking. The encoded protein also contains a regulator of G protein signaling (RGS) domain. Regulator of G protein signaling family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. Alternate splicing results in transcript variants encoding distinct isoforms. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_020468.5:c.57C>ALebanonchr6:85593662Likely PathogenicSpinocerebellar Ataxia, Autosomal Recessive 20NG_047171.1:g.5495C>A; NM_020468.5:c.57C>A; NP_722523.1:p.Asp19Glu773712922
NM_153816.6:c.1132C>TEgypt; United Arab Emi...NC_000006.12:g.85543737G>APathogenicPathogenicSpinocerebellar Ataxia, Autosomal Recessive 20NG_047171.1:g.55420C>T; NM_153816.6:c.1132C>T; NP_722523.1:p.Arg378Ter786205229190318
NM_153816.6:c.1182delEgyptNC_000006.12:g.85543687delPathogenicSpinocerebellar Ataxia, Autosomal Recessive 20NG_047171.1:g.55470del; NM_153816.6:c.1182del; NP_722523.1:p.Lys395ArgfsTer22
NM_153816.6:c.2175delCLebanonchr6:85517849Likely PathogenicSpinocerebellar Ataxia, Autosomal Recessive 20NG_047171.1:g.81308delC; NM_153816.6:c.2175delC; NP_722523.1:p.Met726Ter
NM_153816.6:c.428T>AEgyptNC_000006.12:g.85567567A>TPathogenicPathogenicSpinocerebellar Ataxia, Autosomal Recessive 20NG_047171.1:g.31590T>A; NM_153816.6:c.428T>A; NP_001337461.1:p.Leu164Ter876657387190319
NM_153816.6:c.645dupEgyptNC_000006.12:g.85549869dupPathogenicPathogenicSpinocerebellar Ataxia, Autosomal Recessive 20NG_047171.1:g.49288dup; NM_153816.6:c.645dup; NP_001337472.1:p.Glu119fs869320748190316
NM_153816.6:c.809_813delYemenNC_000006.12:g.85548355_85548359delPathogenicSpinocerebellar Ataxia, Autosomal Recessive 20NG_047171.1:g.50798_50802del; NM_153816.6:c.809_813del; NP_722523.1:p.Ile270ArgfsTer17
NM_153816.6:c.912+5G>AEgyptNC_000006.12:g.85547501C>TPathogenicSpinocerebellar Ataxia, Autosomal Recessive 20NG_047171.1:g.51656G>A; NM_153816.6:c.912+5G>A1267454572
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