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SNX12 sorting nexin 12 [ Homo sapiens (human) ]

Gene ID: 29934, updated on 17-Jun-2019

Summary

Official Symbol
SNX12provided by HGNC
Official Full Name
sorting nexin 12provided by HGNC
Primary source
HGNC:HGNC:14976
See related
Ensembl:ENSG00000147164 MIM:300883
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. A similar protein in mouse may be involved in regulating the neurite outgrowth. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
Expression
Ubiquitous expression in kidney (RPKM 19.5), thyroid (RPKM 17.8) and 25 other tissues See more
Orthologs

Genomic context

See SNX12 in Genome Data Viewer
Location:
Xq13.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (71059247..71073426, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (70207156..70293276, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, U1 small nuclear 56, pseudogene Neighboring gene suppressor of cytokine signaling 5 pseudogene 4 Neighboring gene forkhead box O4 Neighboring gene chromosome X open reading frame 65 Neighboring gene interleukin 2 receptor subunit gamma

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from BioSystems

  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22128, MGC118982, MGC118983

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphatidylinositol binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001256185.1NP_001243114.1  sorting nexin-12 isoform 1

    See identical proteins and their annotated locations for NP_001243114.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AL590764, BC024301, DA736880
    Consensus CDS
    CCDS14405.1
    UniProtKB/TrEMBL
    Q3SYF1
    Related
    ENSP00000481314.1, ENST00000622277.4
    Conserved Domains (1) summary
    cd07294
    Location:27158
    PX_SNX12; The phosphoinositide binding Phox Homology domain of Sorting Nexin 12
  2. NM_001256186.1NP_001243115.1  sorting nexin-12 isoform 2

    See identical proteins and their annotated locations for NP_001243115.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple coding region differences, compared to variant 1, one of which results in a frameshift. The resulting protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AL590764, BC024301, DA847821, DB482683
    Conserved Domains (1) summary
    cl02563
    Location:2783
    PX_domain; The Phox Homology domain, a phosphoinositide binding module
  3. NM_001256187.1NP_001243116.1  sorting nexin-12 isoform 3

    See identical proteins and their annotated locations for NP_001243116.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an exon in the coding region which results in a frameshift, compared to variant 1. The resulting protein (isoform 3) has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL590764, BC024301, DB251077, DB482683
    Conserved Domains (1) summary
    cl02563
    Location:2787
    PX_domain; The Phox Homology domain, a phosphoinositide binding module
  4. NM_001256188.1NP_001243117.1  sorting nexin-12 isoform 4

    See identical proteins and their annotated locations for NP_001243117.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 4), compared to isoform 1.
    Source sequence(s)
    AL590764, BC024301, DA439434, DB482683
    Consensus CDS
    CCDS59169.1
    UniProtKB/Swiss-Prot
    Q9UMY4
    Related
    ENSP00000276105.3, ENST00000276105.3
    Conserved Domains (1) summary
    cl02563
    Location:27154
    PX_domain; The Phox Homology domain, a phosphoinositide binding module
  5. NM_013346.4NP_037478.2  sorting nexin-12 isoform 1

    See identical proteins and their annotated locations for NP_037478.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and represents use of an alternate promoter, compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AL590764, BC024301, BC103847
    Consensus CDS
    CCDS14405.1
    UniProtKB/TrEMBL
    Q3SYF1
    Related
    ENSP00000363392.3, ENST00000374274.8
    Conserved Domains (1) summary
    cd07294
    Location:27158
    PX_SNX12; The phosphoinositide binding Phox Homology domain of Sorting Nexin 12

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    71059247..71073426 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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