SNX32 sorting nexin 32 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SNX32provided by HGNC
Official Full Name: sorting nexin 32provided by HGNC
Primary source: HGNC:HGNC:26423
See related: Ensembl:ENSG00000172803 AllianceGenome:HGNC:26423
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SNX6B
Summary: Predicted to enable phosphatidylinositol binding activity. Predicted to be involved in retrograde transport, endosome to Golgi. Predicted to be located in cytoplasmic vesicle and cytosol. Predicted to be active in endosome. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in brain (RPKM 2.1), testis (RPKM 1.0) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (65833963..65853701)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (65828414..65848170)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (65601434..65621172)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SNX32 Regulates Sorting and Trafficking of Activated EGFR to the Lysosomal Degradation Pathway.
Title: SNX32 Regulates Sorting and Trafficking of Activated EGFR to the Lysosomal Degradation Pathway.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Clone Names

FLJ30934, MGC42112, MGC57276, DKFZp761P1320

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphatidylinositol binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of macroautophagy	NAS Non-traceable Author Statement more info	PubMed
involved_in retrograde transport, endosome to Golgi	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: sorting nexin-32

Names: sorting nexin-6B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_152760.3 → NP_689973.2 sorting nexin-32

See identical proteins and their annotated locations for NP_689973.2

Status: VALIDATED

Source sequence(s)

BC045563, CD638068

Consensus CDS

CCDS8113.2

UniProtKB/Swiss-Prot

Q86XE0, Q8IW53, Q96NG4

Related

ENSP00000310620.6, ENST00000308342.7

Conserved Domains (2) summary

cd07621
Location:180 → 400

BAR_SNX5_6; The Bin/Amphiphysin/Rvs (BAR) domain of Sorting Nexins 5 and 6

cl02563
Location:25 → 163

PX_domain; The Phox Homology domain, a phosphoinositide binding module