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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
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Genomic context

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See EXOC6B in Genome Data Viewer
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
  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

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