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    STXBP6 syntaxin binding protein 6 [ Homo sapiens (human) ]

    Gene ID: 29091, updated on 11-Apr-2024

    Summary

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    Official Symbol
    STXBP6provided by HGNC
    Official Full Name
    syntaxin binding protein 6provided by HGNC
    Primary source
    HGNC:HGNC:19666
    See related
    Ensembl:ENSG00000168952 MIM:607958; AllianceGenome:HGNC:19666
    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
    amisyn; HSPC156
    Summary
    Enables cadherin binding activity involved in cell-cell adhesion. Predicted to be involved in Golgi to plasma membrane transport and exocytosis. Located in adherens junction. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in placenta (RPKM 6.6), brain (RPKM 5.7) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    14q12
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24809454..25050147, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (19007660..19248390, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (25278660..25519353, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370413 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:25102775-25103974 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:25108089-25109288 Neighboring gene granzyme H Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8219 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:25142536-25143735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8221 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5644 Neighboring gene granzyme B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8222 Neighboring gene uncharacterized LOC124903293 Neighboring gene uncharacterized LOC124903294 Neighboring gene Sharpr-MPRA regulatory region 10130 Neighboring gene Sharpr-MPRA regulatory region 2406 Neighboring gene Sharpr-MPRA regulatory region 10677 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8223 Neighboring gene uncharacterized LOC124903295 Neighboring gene Sharpr-MPRA regulatory region 7379 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:25613152-25613314 Neighboring gene long intergenic non-protein coding RNA 2286

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Identification of Methylation-Driven, Differentially Expressed STXBP6 as a Novel Biomarker in Lung Adenocarcinoma. Lenka G, et al. Sci Rep, 2017 Feb 15. PMID 28198450, Free PMC Article
    2. CD6 and syntaxin binding protein 6 variants and response to tumor necrosis factor alpha inhibitors in Danish patients with rheumatoid arthritis. Krintel SB, et al. PLoS One, 2012. PMID 22685579, Free PMC Article
    3. Identification of STXBP6-IRF1 positive feedback loop in regulation of PD-L1 in cancer. Liu Y, et al. Cancer Immunol Immunother, 2021 Feb. PMID 32700091
    4. Amisyn, a novel syntaxin-binding protein that may regulate SNARE complex assembly. Scales SJ, et al. J Biol Chem, 2002 Aug 2. PMID 12145319
    5. Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. Okada Y, et al. PLoS Genet, 2011 Jun. PMID 21738478, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of STXBP6-IRF1 positive feedback loop in regulation of PD-L1 in cancer.
      Title: Identification of STXBP6-IRF1 positive feedback loop in regulation of PD-L1 in cancer.
    2. Our results provide a basis for the genetic etiology of lung adenocarcinoma by demonstrating the possible role of hypermethylation of STXBP6 in poor clinical outcomes in lung cancer patients.
      Title: Identification of Methylation-Driven, Differentially Expressed STXBP6 as a Novel Biomarker in Lung Adenocarcinoma.
    3. Data suggest that genetic variations within CD6 and syntaxin binding protein 6 (STXBP6) may influence response to TNFalpha inhibitors in patients with rheumatoid arthritis (RA).
      Title: CD6 and syntaxin binding protein 6 variants and response to tumor necrosis factor alpha inhibitors in Danish patients with rheumatoid arthritis.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.
    EBI GWAS Catalog
    Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
    EBI GWAS Catalog
    Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ39638

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cadherin binding involved in cell-cell adhesion HDA PubMed 
    Process Evidence Code Pubs
    acts_upstream_of SNARE complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of exocytosis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of SNARE complex assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in adherens junction HDA PubMed 

    General protein information

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    Preferred Names
    syntaxin-binding protein 6

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001304476.3 → NP_001291405.1  syntaxin-binding protein 6 isoform 1

      See identical proteins and their annotated locations for NP_001291405.1

      Status: VALIDATED

      Source sequence(s)
      AL137164, AL161663, AL161666
      Consensus CDS
      CCDS9634.1
      UniProtKB/Swiss-Prot
      D3DS78, Q8N3H1, Q8N8D5, Q8NFX7, Q96GF3, Q9P008
      Related
      ENSP00000379928.1, ENST00000396700.5
      Conserved Domains (2) summary
      cd14681
      Location:2 → 131
      PH-STXBP6; PH-like domain of Syntaxin binding protein 6
      cd15892
      Location:149 → 210
      R-SNARE_STXBP6; SNARE domain of STXBP6

    2. NM_001304477.3 → NP_001291406.1  syntaxin-binding protein 6 isoform 1

      See identical proteins and their annotated locations for NP_001291406.1

      Status: VALIDATED

      Source sequence(s)
      AL137164, AL161663, AL161666
      Consensus CDS
      CCDS9634.1
      UniProtKB/Swiss-Prot
      D3DS78, Q8N3H1, Q8N8D5, Q8NFX7, Q96GF3, Q9P008
      Related
      ENSP00000449536.1, ENST00000546511.5
      Conserved Domains (2) summary
      cd14681
      Location:2 → 131
      PH-STXBP6; PH-like domain of Syntaxin binding protein 6
      cd15892
      Location:149 → 210
      R-SNARE_STXBP6; SNARE domain of STXBP6

    3. NM_001351940.3 → NP_001338869.2  syntaxin-binding protein 6 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL137164, AL161663, AL161666
      Consensus CDS
      CCDS9634.1
      UniProtKB/Swiss-Prot
      D3DS78, Q8N3H1, Q8N8D5, Q8NFX7, Q96GF3, Q9P008
      Conserved Domains (2) summary
      cd14681
      Location:2 → 131
      PH-STXBP6; PH-like domain of Syntaxin binding protein 6
      cd15892
      Location:149 → 210
      R-SNARE_STXBP6; SNARE domain of STXBP6

    4. NM_001351941.3 → NP_001338870.1  syntaxin-binding protein 6 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL137164, AL161663, AL161666
      Consensus CDS
      CCDS9634.1
      UniProtKB/Swiss-Prot
      D3DS78, Q8N3H1, Q8N8D5, Q8NFX7, Q96GF3, Q9P008
      Conserved Domains (2) summary
      cd14681
      Location:2 → 131
      PH-STXBP6; PH-like domain of Syntaxin binding protein 6
      cd15892
      Location:149 → 210
      R-SNARE_STXBP6; SNARE domain of STXBP6

    5. NM_001351942.3 → NP_001338871.1  syntaxin-binding protein 6 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL137164, AL161663, AL161666
      Consensus CDS
      CCDS9634.1
      UniProtKB/Swiss-Prot
      D3DS78, Q8N3H1, Q8N8D5, Q8NFX7, Q96GF3, Q9P008
      Conserved Domains (2) summary
      cd14681
      Location:2 → 131
      PH-STXBP6; PH-like domain of Syntaxin binding protein 6
      cd15892
      Location:149 → 210
      R-SNARE_STXBP6; SNARE domain of STXBP6

    6. NM_001351943.3 → NP_001338872.1  syntaxin-binding protein 6 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL137164, AL161663, AL161666
      Consensus CDS
      CCDS9634.1
      UniProtKB/Swiss-Prot
      D3DS78, Q8N3H1, Q8N8D5, Q8NFX7, Q96GF3, Q9P008
      Conserved Domains (2) summary
      cd14681
      Location:2 → 131
      PH-STXBP6; PH-like domain of Syntaxin binding protein 6
      cd15892
      Location:149 → 210
      R-SNARE_STXBP6; SNARE domain of STXBP6

    7. NM_001394410.1 → NP_001381339.1  syntaxin-binding protein 6 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL137164, AL161663, AL161666
      Consensus CDS
      CCDS9634.1
      UniProtKB/Swiss-Prot
      D3DS78, Q8N3H1, Q8N8D5, Q8NFX7, Q96GF3, Q9P008
      Related
      ENSP00000324302.5, ENST00000323944.10
      Conserved Domains (2) summary
      cd14681
      Location:2 → 131
      PH-STXBP6; PH-like domain of Syntaxin binding protein 6
      cd15892
      Location:149 → 210
      R-SNARE_STXBP6; SNARE domain of STXBP6

    8. NM_001394411.1 → NP_001381340.1  syntaxin-binding protein 6 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL137164, AL161663, AL161666
      Consensus CDS
      CCDS9634.1
      UniProtKB/Swiss-Prot
      D3DS78, Q8N3H1, Q8N8D5, Q8NFX7, Q96GF3, Q9P008
      Conserved Domains (2) summary
      cd14681
      Location:2 → 131
      PH-STXBP6; PH-like domain of Syntaxin binding protein 6
      cd15892
      Location:149 → 210
      R-SNARE_STXBP6; SNARE domain of STXBP6

    9. NM_001394412.1 → NP_001381341.1  syntaxin-binding protein 6 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL137164, AL161663, AL161666
      Consensus CDS
      CCDS9634.1
      UniProtKB/Swiss-Prot
      D3DS78, Q8N3H1, Q8N8D5, Q8NFX7, Q96GF3, Q9P008
      Conserved Domains (2) summary
      cd14681
      Location:2 → 131
      PH-STXBP6; PH-like domain of Syntaxin binding protein 6
      cd15892
      Location:149 → 210
      R-SNARE_STXBP6; SNARE domain of STXBP6

    10. NM_001394413.1 → NP_001381342.1  syntaxin-binding protein 6 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL137164, AL161663, AL161666
      Consensus CDS
      CCDS9634.1
      UniProtKB/Swiss-Prot
      D3DS78, Q8N3H1, Q8N8D5, Q8NFX7, Q96GF3, Q9P008
      Conserved Domains (2) summary
      cd14681
      Location:2 → 131
      PH-STXBP6; PH-like domain of Syntaxin binding protein 6
      cd15892
      Location:149 → 210
      R-SNARE_STXBP6; SNARE domain of STXBP6

    11. NM_001394414.1 → NP_001381343.1  syntaxin-binding protein 6 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL137164, AL161663, AL161666
      Consensus CDS
      CCDS9634.1
      UniProtKB/Swiss-Prot
      D3DS78, Q8N3H1, Q8N8D5, Q8NFX7, Q96GF3, Q9P008
      Conserved Domains (2) summary
      cd14681
      Location:2 → 131
      PH-STXBP6; PH-like domain of Syntaxin binding protein 6
      cd15892
      Location:149 → 210
      R-SNARE_STXBP6; SNARE domain of STXBP6

    12. NM_001394415.1 → NP_001381344.1  syntaxin-binding protein 6 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL137164, AL161663, AL161666
      Consensus CDS
      CCDS9634.1
      UniProtKB/Swiss-Prot
      D3DS78, Q8N3H1, Q8N8D5, Q8NFX7, Q96GF3, Q9P008
      Conserved Domains (2) summary
      cd14681
      Location:2 → 131
      PH-STXBP6; PH-like domain of Syntaxin binding protein 6
      cd15892
      Location:149 → 210
      R-SNARE_STXBP6; SNARE domain of STXBP6

    13. NM_001394416.1 → NP_001381345.1  syntaxin-binding protein 6 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL137164, AL161663, AL161666
      Consensus CDS
      CCDS9634.1
      UniProtKB/Swiss-Prot
      D3DS78, Q8N3H1, Q8N8D5, Q8NFX7, Q96GF3, Q9P008
      Related
      ENSP00000449379.1, ENST00000550887.5
      Conserved Domains (2) summary
      cd14681
      Location:2 → 131
      PH-STXBP6; PH-like domain of Syntaxin binding protein 6
      cd15892
      Location:149 → 210
      R-SNARE_STXBP6; SNARE domain of STXBP6

    14. NM_001394417.1 → NP_001381346.1  syntaxin-binding protein 6 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL137164, AL161663, AL161666
      Conserved Domains (2) summary
      cd14681
      Location:2 → 131
      PH-STXBP6; PH-like domain of Syntaxin binding protein 6
      cl22856
      Location:146 → 203
      SNARE; SNARE motif

    15. NM_001394418.1 → NP_001381347.1  syntaxin-binding protein 6 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL161663, AL161666
      Conserved Domains (2) summary
      cl17171
      Location:1 → 51
      PH-like; Pleckstrin homology-like domain
      cl22856
      Location:69 → 130
      SNARE; SNARE motif

    16. NM_001394419.1 → NP_001381348.1  syntaxin-binding protein 6 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL137164, AL161663, AL161666
      Conserved Domains (2) summary
      cl17171
      Location:1 → 51
      PH-like; Pleckstrin homology-like domain
      cl22856
      Location:69 → 130
      SNARE; SNARE motif

    17. NM_001394420.1 → NP_001381349.1  syntaxin-binding protein 6 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL137164, AL161663, AL161666
      Conserved Domains (2) summary
      cl17171
      Location:2 → 51
      PH-like; Pleckstrin homology-like domain
      cl22856
      Location:50 → 111
      SNARE; SNARE motif

    18. NM_014178.9 → NP_054897.4  syntaxin-binding protein 6 isoform 1

      See identical proteins and their annotated locations for NP_054897.4

      Status: VALIDATED

      Source sequence(s)
      AL137164, AL161663, AL161666
      Consensus CDS
      CCDS9634.1
      UniProtKB/Swiss-Prot
      D3DS78, Q8N3H1, Q8N8D5, Q8NFX7, Q96GF3, Q9P008
      Related
      ENSP00000397212.2, ENST00000419632.6
      Conserved Domains (2) summary
      cd14681
      Location:2 → 131
      PH-STXBP6; PH-like domain of Syntaxin binding protein 6
      cd15892
      Location:149 → 210
      R-SNARE_STXBP6; SNARE domain of STXBP6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      24809454..25050147 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431293.1 → XP_047287249.1  syntaxin-binding protein 6 isoform X1

    2. XM_017021241.2 → XP_016876730.1  syntaxin-binding protein 6 isoform X2

      UniProtKB/Swiss-Prot
      D3DS78, Q8N3H1, Q8N8D5, Q8NFX7, Q96GF3, Q9P008
      Conserved Domains (2) summary
      cd14681
      Location:2 → 131
      PH-STXBP6; PH-like domain of Syntaxin binding protein 6
      cd15892
      Location:149 → 210
      R-SNARE_STXBP6; SNARE domain of STXBP6

    3. XM_024449547.2 → XP_024305315.1  syntaxin-binding protein 6 isoform X2

      UniProtKB/Swiss-Prot
      D3DS78, Q8N3H1, Q8N8D5, Q8NFX7, Q96GF3, Q9P008
      Conserved Domains (2) summary
      cd14681
      Location:2 → 131
      PH-STXBP6; PH-like domain of Syntaxin binding protein 6
      cd15892
      Location:149 → 210
      R-SNARE_STXBP6; SNARE domain of STXBP6

    4. XM_047431296.1 → XP_047287252.1  syntaxin-binding protein 6 isoform X2

      UniProtKB/Swiss-Prot
      D3DS78, Q8N3H1, Q8N8D5, Q8NFX7, Q96GF3, Q9P008

    5. XM_047431295.1 → XP_047287251.1  syntaxin-binding protein 6 isoform X2

      UniProtKB/Swiss-Prot
      D3DS78, Q8N3H1, Q8N8D5, Q8NFX7, Q96GF3, Q9P008

    6. XM_047431298.1 → XP_047287254.1  syntaxin-binding protein 6 isoform X2

      UniProtKB/Swiss-Prot
      D3DS78, Q8N3H1, Q8N8D5, Q8NFX7, Q96GF3, Q9P008

    7. XM_047431294.1 → XP_047287250.1  syntaxin-binding protein 6 isoform X2

      UniProtKB/Swiss-Prot
      D3DS78, Q8N3H1, Q8N8D5, Q8NFX7, Q96GF3, Q9P008

    8. XM_047431299.1 → XP_047287255.1  syntaxin-binding protein 6 isoform X3

    9. XM_047431300.1 → XP_047287256.1  syntaxin-binding protein 6 isoform X3

    10. XM_006720121.5 → XP_006720184.1  syntaxin-binding protein 6 isoform X3

      See identical proteins and their annotated locations for XP_006720184.1

      Conserved Domains (2) summary
      cl17171
      Location:1 → 51
      PH-like; Pleckstrin homology-like domain
      cl22856
      Location:69 → 130
      SNARE; SNARE motif

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      19007660..19248390 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375895.1 → XP_054231870.1  syntaxin-binding protein 6 isoform X1

    2. XM_054375901.1 → XP_054231876.1  syntaxin-binding protein 6 isoform X2

      UniProtKB/Swiss-Prot
      D3DS78, Q8N3H1, Q8N8D5, Q8NFX7, Q96GF3, Q9P008

    3. XM_054375898.1 → XP_054231873.1  syntaxin-binding protein 6 isoform X2

      UniProtKB/Swiss-Prot
      D3DS78, Q8N3H1, Q8N8D5, Q8NFX7, Q96GF3, Q9P008

    4. XM_054375899.1 → XP_054231874.1  syntaxin-binding protein 6 isoform X2

      UniProtKB/Swiss-Prot
      D3DS78, Q8N3H1, Q8N8D5, Q8NFX7, Q96GF3, Q9P008

    5. XM_054375897.1 → XP_054231872.1  syntaxin-binding protein 6 isoform X2

      UniProtKB/Swiss-Prot
      D3DS78, Q8N3H1, Q8N8D5, Q8NFX7, Q96GF3, Q9P008

    6. XM_054375900.1 → XP_054231875.1  syntaxin-binding protein 6 isoform X2

      UniProtKB/Swiss-Prot
      D3DS78, Q8N3H1, Q8N8D5, Q8NFX7, Q96GF3, Q9P008

    7. XM_054375896.1 → XP_054231871.1  syntaxin-binding protein 6 isoform X2

      UniProtKB/Swiss-Prot
      D3DS78, Q8N3H1, Q8N8D5, Q8NFX7, Q96GF3, Q9P008

    8. XM_054375903.1 → XP_054231878.1  syntaxin-binding protein 6 isoform X3

    9. XM_054375904.1 → XP_054231879.1  syntaxin-binding protein 6 isoform X3

    10. XM_054375902.1 → XP_054231877.1  syntaxin-binding protein 6 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NFX7.2 GenPept UniProtKB/Swiss-Prot:Q8NFX7

    Gene LinkOut

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