Gene

tbcd

ID

ZDB-GENE-060823-1

Name

tubulin folding cofactor D

Symbol

tbcd Nomenclature History

Previous Names

None

Type

protein_coding_gene

Location

Chr: 3 Mapping Details/Browsers

Description

Predicted to enable GTPase activator activity and beta-tubulin binding activity. Acts upstream of or within brain development and retina layer formation. Predicted to be active in lateral plasma membrane. Human ortholog(s) of this gene implicated in early onset progressive encephalopathy with brain atrophy and thin corpus callosum. Orthologous to human TBCD (tubulin folding cofactor D).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

No data available

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 1 Figure from Pode-Shakked et al., 2017
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Allele	Type	Localization	Consequence	Mutagen	Supplier
sa6045	Allele with one point mutation	Unknown	Premature Stop	ENU
sa20134	Allele with one point mutation	Unknown	Splice Site	ENU	Zebrafish International Resource Center (ZIRC) (order this) European Zebrafish Resource Center (EZRC) (order this)
sa26147	Allele with one point mutation	Unknown	Premature Stop	ENU
sa40155	Allele with one point mutation	Unknown	Splice Site	ENU	Zebrafish International Resource Center (ZIRC) (order this) European Zebrafish Resource Center (EZRC) (order this)
sa40156	Allele with one point mutation	Unknown	Splice Site	ENU	Zebrafish International Resource Center (ZIRC) (order this)

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Sequence Targeting Reagents

Targeting Reagent	Created Alleles	Citations
MO1-tbcd	N/A	Pode-Shakked et al., 2017

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Human Disease

Associated With tbcd Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
early onset progressive encephalopathy with brain atrophy and thin corpus callosum	Alliance	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	617193

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Associated With tbcd Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR022577	Tubulin-specific chaperone D, C-terminal
Family	IPR033162	Tubulin-folding cofactor D
Homologous_superfamily	IPR011989	Armadillo-like helical
Homologous_superfamily	IPR016024	Armadillo-type fold

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Domain Details Per Protein

Protein	Length	Armadillo-like helical	Armadillo-type fold	Tubulin-folding cofactor D	Tubulin-specific chaperone D, C-terminal
UniProtKB:A0A0R4IXD9 InterPro	1191

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Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Genome Build: GRCz11Chromosome: 3

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	tbcd-201 (1) Ensembl	Ensembl		4,578 nt	Select Tool ZFIN BLAST

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Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

No data available

Marker Relationships

Relationship	Marker Type	Marker	Accession Numbers	Citations
Contained in	BAC	CH211-207B24	BX248236	ZFIN Curated Data
Contained in	BAC	DKEY-202G21	CR936420	ZFIN Curated Data

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Sequences

Type	Accession #	Length (nt/aa)	Analysis
RNA	RefSeq:XM_001922549 (1)	4055 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
Genomic	GenBank:BX248236 (1)	228572 nt	Select Tool MegaBLAST
Polypeptide	UniProtKB:A0A0R4IXD9 (1)	1191 aa	Select Tool ZFIN BLAST SIB BLAST Ensembl Protein Blast

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Species	Symbol	Chromosome	Accession #	Evidence
Human	TBCD	17	Ensembl:ENSG00000141556 Ensembl:ENSG00000278759 Gene:6904 OMIM:604649 HGNC:11581	Conserved genome location (synteny) (1) Functional complementation (1) Amino acid sequence comparison (2)
Mouse	Tbcd	11	Ensembl:ENSMUSG00000039230 MGI:1919686 Gene:108903	Conserved genome location (synteny) (1) Amino acid sequence comparison (1)

Citations

Include unpublished citations

Pode-Shakked, B., Barash, H., Ziv, L., Gripp, K.W., Flex, E., Barel, O., Carvalho, K.S., Scavina, M., Chillemi, G., Niceta, M., Eyal, E., Kol, N., Ben-Zeev, B., Bar-Yosef, O., Marek-Yagel, D., Bertini, E., Duker, A.L., Anikster, Y., Tartaglia, M., Raas-Rothschild, A. (2017) Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: Further delineation of a new chaperone-mediated tubulinopathy. Clinical genetics. 91(5):725-738

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