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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
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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. USP9X deubiquitinates and stabilizes CDC123 to promote breast carcinogenesis through regulating cell cycle. Song N, et al. Mol Carcinog, 2023 Oct. PMID 37314216
  4. 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
  5. ATF5 Connects the Pericentriolar Materials to the Proximal End of the Mother Centriole. Madarampalli B, et al. Cell, 2015 Jul 30. PMID 26213385

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
Compare labs

Variation

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See Variation Viewer (GRCh37.p13)

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

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