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Aliases for TUBGCP6 Gene

Aliases for TUBGCP6 Gene

  • Tubulin Gamma Complex Associated Protein 6 2 3 5
  • Gamma-Tubulin Complex Component 6 2 3
  • GCP-6 3 4
  • GCP6 3 4
  • Tubulin, Gamma Complex Associated Protein 6 2
  • KIAA1669 4
  • MCCRP1 3
  • MCPHCR 3
  • MCCRP 3

External Ids for TUBGCP6 Gene

Previous GeneCards Identifiers for TUBGCP6 Gene

  • GC22M047207
  • GC22M048838
  • GC22M048958
  • GC22M048998
  • GC22M050656
  • GC22M033553

Summaries for TUBGCP6 Gene

Entrez Gene Summary for TUBGCP6 Gene

  • The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008]

GeneCards Summary for TUBGCP6 Gene

TUBGCP6 (Tubulin Gamma Complex Associated Protein 6) is a Protein Coding gene. Diseases associated with TUBGCP6 include Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 and Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome. Among its related pathways are Cell Cycle, Mitotic and Regulation of PLK1 Activity at G2/M Transition. Gene Ontology (GO) annotations related to this gene include microtubule binding. An important paralog of this gene is TUBGCP5.

UniProtKB/Swiss-Prot for TUBGCP6 Gene

  • Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome.

Gene Wiki entry for TUBGCP6 Gene

Additional gene information for TUBGCP6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUBGCP6 Gene

Genomics for TUBGCP6 Gene

GeneHancer (GH) Regulatory Elements for TUBGCP6 Gene

Promoters and enhancers for TUBGCP6 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J050242 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.1 73 4.3 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 HDAC10 TUBGCP6 MAPK12 SELENOO RABL2B LOC105377205 MLC1 LOC105373095
GH22J050188 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 34.1 +53.9 53945 5.6 HDGF PKNOX1 ATF1 SIN3A ZNF2 IRF4 ZNF766 GLIS2 ZNF143 KLF7 TRABD ENSG00000273188 TUBGCP6 MAPK12 HDAC10 BRD1 ENSG00000273253 MAPK11 PLXNB2 MLC1
GH22J050626 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 36.6 -383.0 -382999 2.4 HDGF ZNF493 ARID4B SIN3A YBX1 GLI4 ZNF2 ZNF280A GLIS2 KLF7 ARSA BRD1 ZBED4 RABL2B ENSG00000272836 TUBGCP6 PLXNB2 ALG12 CHKB LOC105373095
GH22J050339 Enhancer 0.9 ENCODE 44 -95.2 -95200 2.1 HDGF ZNF493 ZNF2 KLF7 ZNF488 ZNF585B GLIS1 MYNN NBN ZNF300 BRD1 ALG12 RABL2B PLXNB2 ENSG00000272836 CHKB TUBGCP6 ZBED4 LMF2 ENSG00000273192
GH22J050523 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 16 -284.7 -284680 12.1 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 SCO2 TYMP ODF3B RABL2B BRD1 NCAPH2 ENSG00000272836 ENSG00000272821 TUBGCP6 SYCE3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TUBGCP6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TUBGCP6 gene promoter:
  • STAT3
  • NF-kappaB1
  • NF-kappaB
  • Pax-4a
  • CUTL1
  • Pax-2
  • Pax-2a
  • USF-1
  • USF-1:USF-2
  • USF1

Genomic Locations for TUBGCP6 Gene

Genomic Locations for TUBGCP6 Gene
27,336 bases
Minus strand
27,304 bases
Minus strand

Genomic View for TUBGCP6 Gene

Genes around TUBGCP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBGCP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBGCP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUBGCP6 Gene

Proteins for TUBGCP6 Gene

  • Protein details for TUBGCP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Gamma-tubulin complex component 6
    Protein Accession:
    Secondary Accessions:
    • Q5JZ80
    • Q6PJ40
    • Q86YE9
    • Q9BY91
    • Q9UGX3
    • Q9UGX4

    Protein attributes for TUBGCP6 Gene

    1819 amino acids
    Molecular mass:
    200498 Da
    Quaternary structure:
    • Gamma-tubulin complex is composed of gamma-tubulin, TUBGCP2, TUBGCP3, TUBGCP4, TUBGCP5 and TUBGCP6.
    • Sequence=AAH42165.1; Type=Frameshift; Positions=1651, 1723; Evidence={ECO:0000305}; Sequence=BAB33339.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for TUBGCP6 Gene


neXtProt entry for TUBGCP6 Gene

Post-translational modifications for TUBGCP6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TUBGCP6 Gene

No data available for DME Specific Peptides for TUBGCP6 Gene

Domains & Families for TUBGCP6 Gene

Gene Families for TUBGCP6 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for TUBGCP6 Gene


Graphical View of Domain Structure for InterPro Entry



  • Belongs to the TUBGCP family.
  • Belongs to the TUBGCP family.
genes like me logo Genes that share domains with TUBGCP6: view

Function for TUBGCP6 Gene

Molecular function for TUBGCP6 Gene

UniProtKB/Swiss-Prot Function:
Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome.

Phenotypes From GWAS Catalog for TUBGCP6 Gene

Gene Ontology (GO) - Molecular Function for TUBGCP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton IBA --
GO:0008017 microtubule binding IDA 11694571
GO:0043015 gamma-tubulin binding IEA,IBA --
GO:0051011 contributes_to microtubule minus-end binding IBA --
genes like me logo Genes that share ontologies with TUBGCP6: view
genes like me logo Genes that share phenotypes with TUBGCP6: view

Human Phenotype Ontology for TUBGCP6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for TUBGCP6 Gene

miRTarBase miRNAs that target TUBGCP6

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUBGCP6

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TUBGCP6 Gene

Localization for TUBGCP6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBGCP6 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

Subcellular locations from

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 TUBGCP6 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
cytosol 5
nucleus 2

Gene Ontology (GO) - Cellular Components for TUBGCP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0000923 equatorial microtubule organizing center IBA --
GO:0000930 gamma-tubulin complex IBA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21399614
genes like me logo Genes that share ontologies with TUBGCP6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TUBGCP6 Gene

Pathways & Interactions for TUBGCP6 Gene

genes like me logo Genes that share pathways with TUBGCP6: view

Gene Ontology (GO) - Biological Process for TUBGCP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007020 microtubule nucleation IDA,IEA 11694571
GO:0031122 cytoplasmic microtubule organization IBA --
GO:0051298 centrosome duplication IBA --
GO:0051321 meiotic cell cycle IBA --
GO:0051415 microtubule nucleation by interphase microtubule organizing center IBA --
genes like me logo Genes that share ontologies with TUBGCP6: view

No data available for SIGNOR curated interactions for TUBGCP6 Gene

Drugs & Compounds for TUBGCP6 Gene

No Compound Related Data Available

Transcripts for TUBGCP6 Gene

mRNA/cDNA for TUBGCP6 Gene

Unigene Clusters for TUBGCP6 Gene

Tubulin, gamma complex associated protein 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUBGCP6

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TUBGCP6 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a ·
SP3: -
SP6: -

ExUns: 21b ^ 22a · 22b ^ 23 ^ 24a · 24b · 24c ^ 25a · 25b · 25c ^ 26
SP1: -
SP2: - -
SP4: -
SP5: - - -
SP7: -

Relevant External Links for TUBGCP6 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TUBGCP6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TUBGCP6 Gene

Protein differential expression in normal tissues from HIPED for TUBGCP6 Gene

This gene is overexpressed in Spinal cord (51.1) and Testis (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TUBGCP6 Gene

Protein tissue co-expression partners for TUBGCP6 Gene

NURSA nuclear receptor signaling pathways regulating expression of TUBGCP6 Gene:


SOURCE GeneReport for Unigene cluster for TUBGCP6 Gene:


Evidence on tissue expression from TISSUES for TUBGCP6 Gene

  • Nervous system(4.3)
  • Kidney(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TUBGCP6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • nose
  • outer ear
  • skull
  • lung
  • rib
  • rib cage
  • pelvis
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with TUBGCP6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TUBGCP6 Gene

Orthologs for TUBGCP6 Gene

This gene was present in the common ancestor of animals.

Orthologs for TUBGCP6 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia TUBGCP6 34 33
  • 78.72 (n)
(Rattus norvegicus)
Mammalia Tubgcp6 33
  • 78.71 (n)
(Mus musculus)
Mammalia Tubgcp6 16 34 33
  • 78.34 (n)
(Canis familiaris)
Mammalia TUBGCP6 34 33
  • 77.67 (n)
(Pan troglodytes)
Mammalia TUBGCP6 34
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia TUBGCP6 34
  • 72 (a)
(Monodelphis domestica)
Mammalia TUBGCP6 34
  • 60 (a)
(Gallus gallus)
Aves TUBGCP6 34 33
  • 67.03 (n)
(Anolis carolinensis)
Reptilia TUBGCP6 34
  • 60 (a)
African clawed frog
(Xenopus laevis)
Amphibia grip210 33
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.18301 33
(Danio rerio)
Actinopterygii TUBGCP6 34
  • 50 (a)
Dr.15107 33
fruit fly
(Drosophila melanogaster)
Insecta Grip163 34
  • 17 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 24 (a)
Species where no ortholog for TUBGCP6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TUBGCP6 Gene

Gene Tree for TUBGCP6 (if available)
Gene Tree for TUBGCP6 (if available)
Evolutionary constrained regions (ECRs) for TUBGCP6: view image

Paralogs for TUBGCP6 Gene

Paralogs for TUBGCP6 Gene

genes like me logo Genes that share paralogs with TUBGCP6: view

Variants for TUBGCP6 Gene

Sequence variations from dbSNP and Humsavar for TUBGCP6 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs148626062 uncertain-significance, not specified, not provided 50,244,371(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs192919234 pathogenic, Microcephaly and chorioretinopathy with or without mental retardation 50,240,214(-) G/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs368449236 pathogenic, Microcephaly with chorioretinopathy, autosomal recessive 50,221,813(-) T/C coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs387907019 pathogenic, Microcephaly with chorioretinopathy, autosomal recessive 50,217,738(-) A/C/G downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, stop_lost, terminator_codon_variant
rs538652140 uncertain-significance, Microcephaly with chorioretinopathy, autosomal recessive 50,221,220(-) G/A/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for TUBGCP6 Gene

Variant ID Type Subtype PubMed ID
dgv781n67 CNV gain 20364138
esv2230097 CNV deletion 18987734
esv26829 CNV loss 19812545
esv2724758 CNV deletion 23290073
esv2724759 CNV deletion 23290073
esv2724760 CNV deletion 23290073
esv3648086 CNV loss 21293372
nsv1066496 CNV loss 25217958
nsv1117322 CNV tandem duplication 24896259
nsv1130793 CNV deletion 24896259
nsv471223 CNV loss 18288195
nsv475774 CNV novel sequence insertion 20440878
nsv955199 CNV deletion 24416366

Variation tolerance for TUBGCP6 Gene

Residual Variation Intolerance Score: 71.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.08; 87.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TUBGCP6 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBGCP6 Gene

Disorders for TUBGCP6 Gene

MalaCards: The human disease database

(5) MalaCards diseases for TUBGCP6 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microcephaly and chorioretinopathy, autosomal recessive, 1
  • mccrp1
autosomal recessive chorioretinopathy-microcephaly syndrome
  • autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome
chromosome 17q12 deletion syndrome
  • 17q12 microdeletion syndrome
  • microcephalus
seckel syndrome
  • sckl
- elite association - COSMIC cancer census association via MalaCards


  • Microcephaly and chorioretinopathy, autosomal recessive, 1 (MCCRP1) [MIM:251270]: A syndrome characterized by microcephaly, cognitive impairment, underdeveloped retina and choroid, and epilepsy in some patients. The more anterior parts of the retina, near the periphery and pars plana, have a grayish hue and diminutive vasculature similar to retinopathy of prematurity. Visual impairment becomes evident during the first year of life. {ECO:0000269 PubMed:22279524}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TUBGCP6

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TUBGCP6: view

No data available for Genatlas for TUBGCP6 Gene

Publications for TUBGCP6 Gene

  1. Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. (PMID: 11258795) Hirosawa M … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 58
  2. GCP5 and GCP6: two new members of the human gamma-tubulin complex. (PMID: 11694571) Murphy SM … Stearns T (Molecular biology of the cell 2001) 2 3 4 58
  3. Genetic mapping and exome sequencing identify variants associated with five novel diseases. (PMID: 22279524) Puffenberger EG … Strauss KA (PloS one 2012) 3 4 58
  4. Host determinants of HIV-1 control in African Americans. (PMID: 20205591) Pelak K … National Institute of Allergy and Infectious Diseases Center for HIV/AIDS Vaccine Immunology (CHAVI) (The Journal of infectious diseases 2010) 3 44 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for TUBGCP6 Gene

Sources for TUBGCP6 Gene

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