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    TUBGCP2 tubulin gamma complex component 2 [ Homo sapiens (human) ]

    Gene ID: 10844, updated on 3-Nov-2024

    Summary

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    Official Symbol
    TUBGCP2provided by HGNC
    Official Full Name
    tubulin gamma complex component 2provided by HGNC
    Primary source
    HGNC:HGNC:18599
    See related
    Ensembl:ENSG00000130640 MIM:617817; AllianceGenome:HGNC:18599
    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
    ALP4; GCP2; GCP-2; SPC97; h103p; hGCP2; SPBC97; Spc97p; hSpc97; Grip103; PAMDDFS
    Summary
    Predicted to enable gamma-tubulin binding activity. Predicted to contribute to microtubule minus-end binding activity. Involved in brain development and neuron migration. Located in centrosome and nucleoplasm. Implicated in pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 14.0), kidney (RPKM 12.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TUBGCP2 in Genome Data Viewer
    Location:
    10q26.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (133278635..133312337, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (134234256..134266774, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (135092139..135125841, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:135060766-135061280 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:135061797-135062311 Neighboring gene MIR202 host gene Neighboring gene microRNA 202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4239 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2971 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:135075828-135076804 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:135084013-135084769 Neighboring gene ADAM metallopeptidase domain 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:135087865-135088514 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4240 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:135089815-135090462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4241 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4242 Neighboring gene uncharacterized LOC124902562 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:135106330-135107529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4243 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:135122506-135123201 Neighboring gene ZNF511-PRAP1 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:135127847-135128348 Neighboring gene zinc finger protein 511 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4245 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4246 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:135148655-135149330 Neighboring gene calcyon neuron specific vesicular protein Neighboring gene BANF1 pseudogene 2

    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 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. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. Mitani T, et al. Am J Hum Genet, 2019 Nov 7. PMID 31630790, Free PMC Article
    2. The mammalian gamma-tubulin complex contains homologues of the yeast spindle pole body components spc97p and spc98p. Murphy SM, et al. J Cell Biol, 1998 May 4. PMID 9566967, Free PMC Article
    3. Stability of the small gamma-tubulin complex requires HCA66, a protein of the centrosome and the nucleolus. Fant X, et al. J Cell Sci, 2009 Apr 15. PMID 19299467, Free PMC Article
    4. ATF5 Connects the Pericentriolar Materials to the Proximal End of the Mother Centriole. Madarampalli B, et al. Cell, 2015 Jul 30. PMID 26213385
    5. Protein phosphatase 4 is phosphorylated and inactivated by Cdk in response to spindle toxins and interacts with γ-tubulin. Voss M, et al. Cell Cycle, 2013 Sep 1. PMID 23966160, Free PMC Article

    See all (102) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Pathogenic variants in TUBGCP2 cause an autosomal recessive neurodevelopmental trait consisting of a neuronal migration disorder.
      Title: Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
    2. Authors show genetically that GCP3/Spc98 function is fully conserved with Alp6 across species but that functional differences exist between GCP2/Spc97 and Alp4.
      Title: Functional replacement of fission yeast γ-tubulin small complex proteins Alp4 and Alp6 by human GCP2 and GCP3.
    3. Stability of the small gamma-tubulin complex (gamma tubulin/GCP2/GCP3) requires HCA66, a protein of the centrosome and the nucleolus.
      Title: Stability of the small gamma-tubulin complex requires HCA66, a protein of the centrosome and the nucleolus.
    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

    Associated conditions

    Description Tests
    Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
    MedGen: C5231486 OMIM: 618737 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    • FLJ46573, MGC138162

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables gamma-tubulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    contributes_to microtubule minus-end binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in brain development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cytoplasmic microtubule organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in meiotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in microtubule nucleation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neuron migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein-containing complex assembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in spindle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic microtubule TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of gamma-tubulin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane HDA PubMed 
    located_in microtubule organizing center IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in microtubule organizing center IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in spindle pole IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    gamma-tubulin complex component 2
    Names
    gamma-ring complex protein 103 kDa
    hGrip103
    spindle pole body protein Spc97 homolog
    tubulin gamma complex associated protein 2

    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_001256617.2 → NP_001243546.1  gamma-tubulin complex component 2 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AA377890, AL360181, AL592071, BC143247, CK818507
      Consensus CDS
      CCDS58105.1
      UniProtKB/TrEMBL
      Q53EQ3
      Related
      ENSP00000446093.1, ENST00000543663.6
      Conserved Domains (2) summary
      pfam04130
      Location:537 → 893
      Spc97_Spc98; Spc97 / Spc98 family
      pfam17681
      Location:246 → 534
      GCP_N_terminal; Gamma tubulin complex component N-terminal

    2. NM_001256618.2 → NP_001243547.1  gamma-tubulin complex component 2 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses a downstream, in-frame start codon and lacks two exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AA377890, AK297251, AL592071
      Consensus CDS
      CCDS58104.1
      UniProtKB/TrEMBL
      B4DS45
      Related
      ENSP00000395666.2, ENST00000417178.7
      Conserved Domains (1) summary
      pfam04130
      Location:90 → 608
      Spc97_Spc98; Spc97 / Spc98 family

    3. NM_006659.4 → NP_006650.1  gamma-tubulin complex component 2 isoform 2

      See identical proteins and their annotated locations for NP_006650.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AA377890, AF042379, AK223586, AL592071
      Consensus CDS
      CCDS7676.1
      UniProtKB/Swiss-Prot
      B4DM18, B7ZKL8, F5H4E0, F5H4L0, O43632, Q5VWX7, Q9BSJ2
      UniProtKB/TrEMBL
      Q53EQ3
      Related
      ENSP00000252936.3, ENST00000252936.8
      Conserved Domains (2) summary
      pfam04130
      Location:509 → 865
      Spc97_Spc98; Spc97 / Spc98 family
      pfam17681
      Location:218 → 506
      GCP_N_terminal; Gamma tubulin complex component N-terminal

    RNA

    1. NR_046330.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate 5'-most exon, lacks an internal exon and uses an alternate splice in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA377890, AK092113, AL592071
      Related
      ENST00000683786.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      133278635..133312337 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      134234256..134266774 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BSJ2.2 GenPept UniProtKB/Swiss-Prot:Q9BSJ2

    Gene LinkOut

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

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