1. Gene
  2. TUBGCP2 - tubulin gamma complex associated protein 2 Gene

TUBGCP2 - tubulin gamma complex associated protein 2 Gene

Homo sapiens

Also known as ALP4; GCP2; GCP-2; SPC97; h103p; hGCP2; SPBC97; Spc97p; hSpc97; Grip103; PAMDDFS

Gene ID: 10844 | Gene type: protein coding

About TUBGCP2

Cytogenetic location: 10q26.3 Genomic coordinates (GRCh38): 10:133,278,635-133,312,337 (from NCBI)

This gene has 35 transcripts (splice variants), 205 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 14.0), kidney (RPKM 12.2) and 25 other tissues.

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. [provided by Alliance of Genome Resources, Apr 2022]

TUBGCP2 Products(3)

mRNA Protein Name
NM_001256617.2 NP_001243546.1 gamma-tubulin complex component 2 isoform 1
NM_001256618.2 NP_001243547.1 gamma-tubulin complex component 2 isoform 3
NM_006659.4 NP_006650.1 gamma-tubulin complex component 2 isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
16980960 GOA
Biological Process GO Annotation Evidence Reference Source
involved in brain development IMP
IMP: Inferred from mutant phenotype
31630790 GOA
involved in neuron migration IMP
IMP: Inferred from mutant phenotype
31630790 GOA
Cellular Component GO Annotation Evidence Reference Source
located in centrosome IDA
IDA: Inferred from direct assay
21399614 GOA
located in microtubule organizing center IDA
IDA: Inferred from direct assay
9566967 GOA
located in microtubule organizing center IMP
IMP: Inferred from mutant phenotype
31630790 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TUBGCP2 Protein Structure

Spc97_Spc98

Spc97_Spc98: Spc97 / Spc98 family (220 - 738)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 902 a.a.
Protein Preferred Names Protein Names

gamma-tubulin complex component 2

gamma-ring complex protein 103 kDa

TUBGCP2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
TUBGCP2 Q9BSJ2 SERTAD3 Homo sapiens Q9UJW9 32296183
Intra
TUBGCP2 Q9BSJ2 SERTAD3 Homo sapiens Q9UJW9 32296183
Intra
TUBGCP2 Q9BSJ2 SERTAD3 Homo sapiens Q9UJW9 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures

PAMDDFS

Neuronal Migration Disorders

Abnormality Of Neuronal Migration

Malformations Of Cortical Development, Group Ii

Neuronal Dysmigration Syndromes

Band Heterotopia

Subcortical Band Heterotopia

Double Cortex Syndrome

Subcortical Laminar Heterotopia

Double Cortex

Band Heterotopia Of Brain

BH

Heco

Heterotopic Cortex

Familial Band Heterotopia

Dc

Dc Syndrome

Heterotopia, Subcortical Band

Sbh

Sclh

Bhy

Streptococcal Meningitis
Chromosome 22q11.2 Duplication Syndrome

Chromosome 22q11.2 Microduplication Syndrome

22q11.2 Microduplication Syndrome

22q11.2 Duplication Syndrome

Duplication 22q11.2

Trisomy 22q11.2

22q11.2 Duplication

Dup(22)(Q11)

Chromosome 15q11.2 Deletion Syndrome

15q11.2 Microdeletion Syndrome

15q11.2 Bp1-Bp2 Microdeletion Syndrome

Del(15)(Q11.2)

Monosomy 15q11.2

15q11.2 Microdeletion

Chromosome 15q11.2 Deletion

Chromosome 15q11.2 Microdeletion

Chromosome Deletion Syndrome 15q11.2

Microdeletion 15q11.2

Duplication 15q11-Q13 Syndrome

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria

Diamond-Blackfan Anemia 1

Aase Syndrome

DBA1

Erythrogenesis Imperfecta

Aase-Smith Syndrome Ii

Dba

Blackfan-Diamond Syndrome

Bds

Anemia, Congenital Hypoplastic, Of Blackfan And Diamond

Anemia, Congenital Erythroid Hypoplastic

Red Cell Aplasia, Pure, Hereditary

Aregenerative Anemia, Chronic Congenital

Rps19-Related Diamond-Blackfan Anemia

Chronic Congenital Aregenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Pure Hereditary Red Cell Aplasia

Anemia, Diamond-Blackfan, Type 1

Anemia, Diamond-Blackfan

Aase Smith Syndrome 2

Familial Hypoplastic Anaemia With Malformations

Constitutional Pure Red Cell Aplasia

Autoimmune Lymphoproliferative Syndrome

ALPS

Canale-Smith Syndrome

Autoimmune Lymphoproliferative Syndrome, Type Ia

Autoimmune Lymphoproliferative Syndrome, Type Ib

Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant

Css

Autoimmune Lymphoproliferative Syndrome, Type 1b

Autoimmune Lymphoproliferative Syndrome, Type 1a

Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant

Fas Deficiency

Autoimmune Lymphoproliferative Syndrome 1a

ALPS1A

Autoimmune Lymphoproliferative Syndrome Type Ia

Autoimmune Lymphoproliferative Syndrome 1b

ALPS1B

Autoimmune Lymphoproliferative Syndrome Type Ib

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus TUBGCP2 RGD RGD:1309597
Bos taurus TUBGCP2 VGNC VGNC:36512
Mus musculus TUBGCP2 MGD MGI:1921487
Felis catus TUBGCP2 VGNC VGNC:66704
Macaca mulatta TUBGCP2 VGNC VGNC:79154
Canis familiaris TUBGCP2 VGNC VGNC:53016