TUBGCP2 tubulin gamma complex component 2

Gene ID: 10844, updated on 3-Nov-2024
Gene type: protein coding
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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures MedGen: C5231486OMIM: 618737GeneReviews: Not available	not available

Genomic context

Location:: 10q26.3

Sequence:: Chromosome: 10; NC_000010.11 (133278635..133312337, complement)

Total number of exons:: 20

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for TUBGCP2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
Variation Viewer
Related Variants

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