This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, which are greater than 90% similar, on chromosome 15. Duplicons are associated with deletions, inversions and other chromosomal rearrangements that underlie genomic disease. This gene is a member of the golgin gene family, whose protein products localize to the Golgi apparatus.... See more...

Aliases for GOLGA6B Gene

Aliases for GOLGA6B Gene

  • Golgin A6 Family Member B 2 3 5
  • Golgin Subfamily A Member 6B 3 3 4
  • Golgi Autoantigen, Golgin Subfamily A, 6B 2 3
  • GOLGA 3 4
  • Putative Golgin Subfamily A Member 6D 3
  • Putative Golgin Subfamily A Member 6B 3
  • Golgin A6 Family, Member B 2
  • Golgin-Like Protein 3
  • GOLGA6D 3

External Ids for GOLGA6B Gene

Previous GeneCards Identifiers for GOLGA6B Gene

  • GC15P070737
  • GC15P072947
  • GC15P049778

Summaries for GOLGA6B Gene

Entrez Gene Summary for GOLGA6B Gene

  • This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, which are greater than 90% similar, on chromosome 15. Duplicons are associated with deletions, inversions and other chromosomal rearrangements that underlie genomic disease. This gene is a member of the golgin gene family, whose protein products localize to the Golgi apparatus. The majority of the related gene copies are thought to be transcribed pseudogenes. It is not known whether this gene is a pseudogene or if it encodes a golgin protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for GOLGA6B Gene

GOLGA6B (Golgin A6 Family Member B) is a Protein Coding gene. Diseases associated with GOLGA6B include Chromosome 15Q13.3 Deletion Syndrome. An important paralog of this gene is GOLGA6D.

Additional gene information for GOLGA6B Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GOLGA6B Gene

Genomics for GOLGA6B Gene

GeneHancer (GH) Regulatory Elements for GOLGA6B Gene

Promoters and enhancers for GOLGA6B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J072510 Enhancer 0.7 Ensembl 4.1 -94.4 -94355 8 HNRNPK OSR2 WT1 ZBTB1 BATF ZBTB48 IKZF3 ZNF189 PRDM6 ZNF664 HEXA ARIH1 RPL12P35 CELF6 BBS4 LOC646665 GOLGA6B piR-57133-190 lnc-HEXA-1
GH15J072636 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas 0.3 +28.4 28445 1.6 TOE1 RAD51 ELF1 OVOL3 USF2 MITF MAZ POLR2A GABPB1 PHF20 ENSG00000259909 LINC02259 HEXA GOLGA6B
GH15J072615 Enhancer 0.6 Ensembl ENCODE 0.4 +7.4 7445 2 CTCF IRF1 MITF BHLHE40 KDM1A ENSG00000260672 MIR630 RF00017-1834 GOLGA6B LINC02259
GH15J072654 Promoter 0.3 Ensembl 0.3 +46.1 46145 0.2 piR-40058-001 piR-45301-002 piR-51363-017 GOLGA6B
GH15J072642 Enhancer 0.2 Ensembl 0.3 +33.8 33845 0.4 AB372627-001 ENSG00000259909 GOLGA6B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GOLGA6B on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GOLGA6B

Top Transcription factor binding sites by QIAGEN in the GOLGA6B gene promoter:
  • AREB6
  • E47
  • HFH-1
  • IRF-7A
  • ITF-2
  • MyoD
  • MZF-1
  • Pax-3
  • POU2F1
  • Tal-1beta

Genomic Locations for GOLGA6B Gene

Genomic Locations for GOLGA6B Gene
chr15:72,608,556-72,667,397
(GRCh38/hg38)
Size:
58,842 bases
Orientation:
Plus strand
chr15:72,947,038-72,959,738
(GRCh37/hg19)
Size:
12,701 bases
Orientation:
Plus strand

Genomic View for GOLGA6B Gene

Genes around GOLGA6B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GOLGA6B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GOLGA6B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GOLGA6B Gene

Proteins for GOLGA6B Gene

  • Protein details for GOLGA6B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NDN3-GOG6B_HUMAN
    Recommended name:
    Golgin subfamily A member 6B
    Protein Accession:
    A6NDN3
    Secondary Accessions:
    • A8MYY7

    Protein attributes for GOLGA6B Gene

    Size:
    693 amino acids
    Molecular mass:
    79913 Da
    Quaternary structure:
    No Data Available

neXtProt entry for GOLGA6B Gene

Post-translational modifications for GOLGA6B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GOLGA6B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GOLGA6B Gene

Domains & Families for GOLGA6B Gene

Gene Families for GOLGA6B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GOLGA6B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GOLGA6B Gene

GenScript: Design optimal peptide antigens:
  • Putative golgin subfamily A member 6B (GOG6B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A6NDN3

UniProtKB/Swiss-Prot:

GOG6B_HUMAN :
  • Belongs to the GOLGA6 family.
Family:
  • Belongs to the GOLGA6 family.
genes like me logo Genes that share domains with GOLGA6B: view

Function for GOLGA6B Gene

genes like me logo Genes that share phenotypes with GOLGA6B: view

Animal Model Products

CRISPR Products

miRNA for GOLGA6B Gene

miRTarBase miRNAs that target GOLGA6B

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GOLGA6B

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GOLGA6B Gene

Localization for GOLGA6B Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GOLGA6B gene
Compartment Confidence
golgi apparatus 4
nucleus 2
cytosol 2

Gene Ontology (GO) - Cellular Components for GOLGA6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000137 Golgi cis cisterna IBA 21873635
GO:0005794 Golgi apparatus IBA 21873635
GO:0005801 cis-Golgi network IBA 21873635
GO:0032580 Golgi cisterna membrane IBA 21873635
genes like me logo Genes that share ontologies with GOLGA6B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for GOLGA6B Gene

Pathways & Interactions for GOLGA6B Gene

PathCards logo

SuperPathways for GOLGA6B Gene

No Data Available

Interacting Proteins for GOLGA6B Gene

;

Gene Ontology (GO) - Biological Process for GOLGA6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007030 Golgi organization IBA 21873635
GO:0051225 NOT spindle assembly IBA 21873635
genes like me logo Genes that share ontologies with GOLGA6B: view

No data available for Pathways by source and SIGNOR curated interactions for GOLGA6B Gene

Drugs & Compounds for GOLGA6B Gene

No Compound Related Data Available

Transcripts for GOLGA6B Gene

mRNA/cDNA for GOLGA6B Gene

1 REFSEQ mRNAs :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GOLGA6B

Alternative Splicing Database (ASD) splice patterns (SP) for GOLGA6B Gene

No ASD Table

Relevant External Links for GOLGA6B Gene

GeneLoc Exon Structure for
GOLGA6B

Expression for GOLGA6B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GOLGA6B Gene

mRNA differential expression in normal tissues according to GTEx for GOLGA6B Gene

This gene is overexpressed in Testis (x35.8).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GOLGA6B

genes like me logo Genes that share expression patterns with GOLGA6B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for GOLGA6B Gene

Orthologs for GOLGA6B Gene

This gene was present in the common ancestor of chordates.

Orthologs for GOLGA6B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 31
  • 94 (a)
ManyToMany
-- 31
  • 93 (a)
ManyToMany
-- 31
  • 92 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 35 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 31
  • 34 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Golga2 31
  • 32 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 31
  • 31 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 30 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 31
  • 27 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 26 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii golga2 31
  • 22 (a)
OneToMany
Species where no ortholog for GOLGA6B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GOLGA6B Gene

ENSEMBL:
Gene Tree for GOLGA6B (if available)
TreeFam:
Gene Tree for GOLGA6B (if available)

Paralogs for GOLGA6B Gene

Variants for GOLGA6B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GOLGA6B Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs2081561 - p.Arg200Trp

Additional dbSNP identifiers (rs#s) for GOLGA6B Gene

Structural Variations from Database of Genomic Variants (DGV) for GOLGA6B Gene

Variant ID Type Subtype PubMed ID
dgv1239n106 CNV duplication 24896259
esv1004072 CNV gain 20482838
esv27409 CNV gain 19812545
esv2760039 CNV gain+loss 17122850
esv3413840 CNV duplication 20981092
nsv1149170 CNV duplication 26484159
nsv428307 CNV gain 18775914
nsv483057 CNV loss 15286789
nsv821020 CNV duplication 20802225
nsv9275 CNV loss 18304495
nsv977732 CNV duplication 23825009

Variation tolerance for GOLGA6B Gene

Gene Damage Index Score: 5.89; 74.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GOLGA6B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GOLGA6B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GOLGA6B Gene

Disorders for GOLGA6B Gene

MalaCards: The human disease database

(1) MalaCards diseases for GOLGA6B Gene - From: DISEASES

Disorder Aliases PubMed IDs
chromosome 15q13.3 deletion syndrome
  • chromosome 15q13.3 microdeletion syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GOLGA6B

genes like me logo Genes that share disorders with GOLGA6B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GOLGA6B Gene

Publications for GOLGA6B Gene

  1. Analysis of the DNA sequence and duplication history of human chromosome 15. (PMID: 16572171) Zody MC … Nusbaum C (Nature 2006) 3 4 54
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54
  3. Neocentromeres in 15q24-26 map to duplicons which flanked an ancestral centromere in 15q25. (PMID: 12915487) Ventura M … Rocchi M (Genome research 2003) 3 54
  4. Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons. (PMID: 11896453) Pujana MA … Estivill X (European journal of human genetics : EJHG 2002) 3 54
  5. Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26. (PMID: 11156619) Pujana MA … Estivill X (Genome research 2001) 3 54

Products for GOLGA6B Gene

Sources for GOLGA6B Gene