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

Summary

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, Oct 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

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.

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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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH91135 (e-PCR)
- UniSTS:87837

WI-14226 (e-PCR)
- UniSTS:21346

D11S3114 (e-PCR)
- UniSTS:152207

D10S1634 (e-PCR)
- UniSTS:154270

GDB:335751 (e-PCR)
- UniSTS:156601

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 more info	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)

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
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
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

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