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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
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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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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

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