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    EXOC6B exocyst complex component 6B [ Homo sapiens (human) ]

    Gene ID: 23233, updated on 3-Apr-2024

    Summary

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    Official Symbol
    EXOC6Bprovided by HGNC
    Official Full Name
    exocyst complex component 6Bprovided by HGNC
    Primary source
    HGNC:HGNC:17085
    See related
    Ensembl:ENSG00000144036 MIM:607880; AllianceGenome:HGNC:17085
    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
    Also known as
    SEC15B; SEC15L2; SEMDJL3
    Summary
    This gene encodes a protein which is a part of the evolutionarily conserved exocyst, a multimeric protein complex necessary for exocytosis, which in turn, is crucial for cell growth, polarity and migration. Disruption of this gene may be associated with phenotypes exhibiting multiple symptoms including intellectual disability and developmental delay (DD). [provided by RefSeq, Jun 2016]
    Expression
    Ubiquitous expression in heart (RPKM 12.8), brain (RPKM 8.7) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2p13.2
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (72175984..72826033, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (72189067..72838971, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (72403113..73053162, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72239996-72240496 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72240497-72240997 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:72248010-72248658 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:72248659-72249307 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:72258545-72259744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72263893-72264560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72312423-72312923 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72332215-72332714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72355065-72355844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72362955-72363918 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:72365847-72366810 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72373667-72374189 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72374379-72374880 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:72378306-72378481 Neighboring gene cytochrome P450 family 26 subfamily B member 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:72463389-72463890 Neighboring gene ribosomal protein S15a pseudogene 13 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:72773139-72773380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72865570-72866299 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72866300-72867028 Neighboring gene Sharpr-MPRA regulatory region 2924 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:72978191-72979035 Neighboring gene small nucleolar RNA SNORD78 Neighboring gene RNA, U2 small nuclear 39, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72999013-72999514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72999515-73000014 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:73052157-73052667 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11625 Neighboring gene zinc finger MYM-type containing 1 pseudogene Neighboring gene CRISPRi-validated cis-regulatory element chr2.2721 Neighboring gene VISTA enhancer hs1025 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16022 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16021 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73119309-73119810 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:73115417-73115591 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11626 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:73110580-73110740 Neighboring gene sepiapterin reductase

    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. EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity. Adam MP, et al. , 1993. PMID 37229238
    2. Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3. Simsek-Kiper PO, et al. Hum Mutat, 2022 Dec. PMID 36150098, Free PMC Article
    3. A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. Girisha KM, et al. Eur J Hum Genet, 2016 Aug. PMID 26669664, Free PMC Article
    4. Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. Evers C, et al. Am J Med Genet A, 2014 Dec. PMID 25256811
    5. Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. Frühmesser A, et al. Eur J Hum Genet, 2013 Oct. PMID 23422942, Free PMC Article

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
      Title: Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
    2. CircEXOC6B Suppresses the Proliferation and Motility and Sensitizes Ovarian Cancer Cells to Paclitaxel Through miR-376c-3p/FOXO3 Axis.
      Title: CircEXOC6B Suppresses the Proliferation and Motility and Sensitizes Ovarian Cancer Cells to Paclitaxel Through miR-376c-3p/FOXO3 Axis.
    3. Homozygous nonsense variant in EXOC6B identified in two brothers with spondyloepimetaphyseal dysplasia and multiple joint dislocations syndrome.
      Title: A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.
    4. EXOC6B and the exocyst complex might play an important role in the molecular pathogenesis of intellectual disability.
      Title: Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
    5. We report a 2p13.2 microdeletion in 2 subjects encompasing 2 genes, EXOC6B and CYP26B12 with clinical effects on cognitive function, and craniofacial and skeletal development.
      Title: Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2.
    6. Data suggest that the Rabin8-Rab8-Sec15 interaction may couple the activation of Rab8 to the recruitment of the Rab8 effector and is involved in the regulation of vesicular trafficking for primary cilium formation.
      Title: A Rab8 guanine nucleotide exchange factor-effector interaction network regulates primary ciliogenesis.
    7. TNS3-EXOC6B and EXOC6B-TNS3 fusion transcripts are detected in a premature male newborn with a complex multisystemic phenotype associated with a balanced translocation.
      Title: Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype.
    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

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0919, WUGSC:H_NH0343N14.1

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Golgi to plasma membrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in membrane fission NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitotic cytokinesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in vesicle docking involved in exocytosis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in vesicle tethering involved in exocytosis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of exocyst IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of exocyst NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    exocyst complex component 6B
    Names
    SEC15 homolog B
    SEC15-like protein 2
    exocyst complex component Sec15B

    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.

    Genomic

    1. NG_050967.1 RefSeqGene

      Range
      5016..655065
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001321729.2 → NP_001308658.1  exocyst complex component 6B isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC006461, AC016770, AC092630, AC104309, AC105051, BM995822
      Consensus CDS
      CCDS82468.1
      UniProtKB/TrEMBL
      A0A0U1RRB6, J3QT38
      Related
      ENSP00000489442.1, ENST00000634650.1
      Conserved Domains (1) summary
      pfam04091
      Location:465 → 771
      Sec15; Exocyst complex subunit Sec15-like

    2. NM_001321730.2 → NP_001308659.1  exocyst complex component 6B isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC006461, AC016770, AC092630, AC104309, AC105051, BM995822
      Conserved Domains (1) summary
      pfam04091
      Location:465 → 726
      Sec15; Exocyst complex subunit Sec15-like

    3. NM_001321731.2 → NP_001308660.1  exocyst complex component 6B isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC006461, AC016770, AC092630, AC104309, AC105051, BM995822
      UniProtKB/TrEMBL
      J3QT38
      Conserved Domains (1) summary
      pfam04091
      Location:465 → 771
      Sec15; Exocyst complex subunit Sec15-like

    4. NM_001321733.2 → NP_001308662.1  exocyst complex component 6B isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC006461, AC016770, AC092630, AC104309, AC105051, BM995822
      UniProtKB/TrEMBL
      J3QT38
      Conserved Domains (1) summary
      pfam04091
      Location:465 → 726
      Sec15; Exocyst complex subunit Sec15-like

    5. NM_001321734.2 → NP_001308663.1  exocyst complex component 6B isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC006461, AC016770, AC092630, AC104309, AC105051, BM995822
      Conserved Domains (1) summary
      pfam04091
      Location:352 → 658
      Sec15; Exocyst complex subunit Sec15-like

    6. NM_015189.3 → NP_056004.1  exocyst complex component 6B isoform 2

      See identical proteins and their annotated locations for NP_056004.1

      Status: REVIEWED

      Source sequence(s)
      AB023136, AC006461, AC092630, AK026474, BM995822
      Consensus CDS
      CCDS46333.1
      UniProtKB/Swiss-Prot
      B8ZZY3, Q9Y2D4
      UniProtKB/TrEMBL
      J3QT38
      Related
      ENSP00000272427.7, ENST00000272427.11
      Conserved Domains (1) summary
      pfam04091
      Location:465 → 771
      Sec15; Exocyst complex subunit Sec15-like

    RNA

    1. NR_135773.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC006461, AC016770, AC092630, AC104309, AC105051, BM995822

    2. NR_135774.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC006461, AC016770, AC092630, AC104309, AC105051, BM995822

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      72175984..72826033 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003642.2 → XP_016859131.1  exocyst complex component 6B isoform X3

      Conserved Domains (1) summary
      pfam04091
      Location:133 → 439
      Sec15; Exocyst complex subunit Sec15-like

    2. XM_005264224.2 → XP_005264281.1  exocyst complex component 6B isoform X3

      Conserved Domains (1) summary
      pfam04091
      Location:133 → 439
      Sec15; Exocyst complex subunit Sec15-like

    3. XM_011532711.4 → XP_011531013.1  exocyst complex component 6B isoform X1

      UniProtKB/TrEMBL
      J3QT38
      Conserved Domains (1) summary
      pfam04091
      Location:465 → 660
      Sec15; Exocyst complex subunit Sec15-like

    4. XM_011532712.4 → XP_011531014.1  exocyst complex component 6B isoform X2

      UniProtKB/TrEMBL
      J3QT38
      Related
      ENSP00000386698.1, ENST00000410104.1
      Conserved Domains (1) summary
      pfam04091
      Location:465 → 662
      Sec15; Exocyst complex subunit Sec15-like

    RNA

    1. XR_007071495.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      72189067..72838971 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341081.1 → XP_054197056.1  exocyst complex component 6B isoform X3

    2. XM_054341082.1 → XP_054197057.1  exocyst complex component 6B isoform X3

    3. XM_054341079.1 → XP_054197054.1  exocyst complex component 6B isoform X1

    4. XM_054341080.1 → XP_054197055.1  exocyst complex component 6B isoform X2

    RNA

    1. XR_008486308.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2D4.3 GenPept UniProtKB/Swiss-Prot:Q9Y2D4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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