Aliases for TBC1D21 Gene

Aliases for TBC1D21 Gene

  • TBC1 Domain Family Member 21 2 3 4 5
  • Male Germ Cell-Specific Expressed, Containing A RabGAP Domain 2 3
  • TBC1 Domain Family, Member 21 2
  • MgcRabGAP 3

External Ids for TBC1D21 Gene

Previous GeneCards Identifiers for TBC1D21 Gene

  • GC15P071954
  • GC15P074165
  • GC15P050997

Summaries for TBC1D21 Gene

GeneCards Summary for TBC1D21 Gene

TBC1D21 (TBC1 Domain Family Member 21) is a Protein Coding gene. Diseases associated with TBC1D21 include Phacogenic Glaucoma. Gene Ontology (GO) annotations related to this gene include actin binding and Rab GTPase binding. An important paralog of this gene is TBC1D16.

UniProtKB/Swiss-Prot Summary for TBC1D21 Gene

  • May act as a GTPase-activating protein for Rab family protein(s) (PubMed:19077034). May be involved in acrosome formation and cytoskeletal reorganization during spermiogenesis, possibly by regulating RAB3A activity (PubMed:21128978).

Additional gene information for TBC1D21 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBC1D21 Gene

Genomics for TBC1D21 Gene

GeneHancer (GH) Regulatory Elements for TBC1D21 Gene

Promoters and enhancers for TBC1D21 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J073873 Promoter 0.5 EPDnew 750.6 +0.0 27 0.1 ZNF512 CTCF ENSG00000260624 LOC102723657 TBC1D21 lnc-LOXL1-1
GH15J073874 Enhancer 0.5 ENCODE 750.6 +0.5 531 0.2 CTCF RAD21 REST TRIM22 SMC3 ENSG00000260624 LOC102723657 TBC1D21 LOXL1-AS1 lnc-LOXL1-1
GH15J073872 Enhancer 0.3 Ensembl 750.6 -1.3 -1263 0.2 ZNF512 ZNF707 ENSG00000260624 LOC102723657 TBC1D21 EDC3 ENSG00000260103 CLK3 piR-57133-192
GH15J073964 Enhancer 1.3 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 11.7 +92.1 92089 2.6 ZNF785 CTCF MYC MAX RAD21 SP7 ZSCAN21 IKZF1 GLIS2 PKNOX1 STOML1 PML EDC3 ENSG00000260103 TBC1D21 LOXL1 CLK3 INSYN1 piR-33978-006 piR-58297-178
GH15J073955 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 11.7 +84.3 84323 5 POLR2A MAX FOSL2 SMARCC1 CEBPB CHD2 JUN PKNOX1 RCOR1 SMARCB1 PML STOML1 LOXL1 TBC1D21 LOXL1-AS1 piR-33978-006
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBC1D21 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TBC1D21 gene promoter:
  • Pax-4a
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • SRY

Genomic Locations for TBC1D21 Gene

Genomic Locations for TBC1D21 Gene
chr15:73,873,564-73,909,783
(GRCh38/hg38)
Size:
36,220 bases
Orientation:
Plus strand
chr15:74,165,949-74,181,555
(GRCh37/hg19)
Size:
15,607 bases
Orientation:
Plus strand

Genomic View for TBC1D21 Gene

Genes around TBC1D21 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D21 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D21 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D21 Gene

Proteins for TBC1D21 Gene

  • Protein details for TBC1D21 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYX1-TBC21_HUMAN
    Recommended name:
    TBC1 domain family member 21
    Protein Accession:
    Q8IYX1
    Secondary Accessions:
    • B9A6M2

    Protein attributes for TBC1D21 Gene

    Size:
    336 amino acids
    Molecular mass:
    39221 Da
    Quaternary structure:
    • Interacts with ACTB.

    Alternative splice isoforms for TBC1D21 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D21 Gene

Post-translational modifications for TBC1D21 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TBC1D21 Gene

Domains & Families for TBC1D21 Gene

Gene Families for TBC1D21 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TBC1D21 Gene

Suggested Antigen Peptide Sequences for TBC1D21 Gene

GenScript: Design optimal peptide antigens:
  • TBC1 domain family member 21 (TBC21_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IYX1

UniProtKB/Swiss-Prot:

TBC21_HUMAN :
  • The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rab's 'switch 2' glutamine and insert in Rab's active site.
Domain:
  • The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rab's 'switch 2' glutamine and insert in Rab's active site.
genes like me logo Genes that share domains with TBC1D21: view

Function for TBC1D21 Gene

Molecular function for TBC1D21 Gene

UniProtKB/Swiss-Prot Function:
May act as a GTPase-activating protein for Rab family protein(s) (PubMed:19077034). May be involved in acrosome formation and cytoskeletal reorganization during spermiogenesis, possibly by regulating RAB3A activity (PubMed:21128978).

Phenotypes From GWAS Catalog for TBC1D21 Gene

Gene Ontology (GO) - Molecular Function for TBC1D21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005096 GTPase activator activity IBA 21873635
GO:0017137 NOT Rab GTPase binding IBA,IMP 16923123
genes like me logo Genes that share ontologies with TBC1D21: view
genes like me logo Genes that share phenotypes with TBC1D21: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D21 Gene

Localization for TBC1D21 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D21 Gene

Cytoplasmic vesicle, secretory vesicle, acrosome. Cytoplasm, cytoskeleton. Note=Located at the edge of the acrosomal region, neck and annulus during spermiogenesis. Colocalizes with RAB3A at the acrosome-acroplaxome and neck regions of spermatids. Colocalizes with ACTB at the neck region in elongated spermatids. {ECO:0000250 UniProtKB:Q9D9D3}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBC1D21 gene
Compartment Confidence
cytoskeleton 3
mitochondrion 2
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for TBC1D21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0031410 cytoplasmic vesicle IEA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with TBC1D21: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TBC1D21 Gene

Pathways & Interactions for TBC1D21 Gene

PathCards logo

SuperPathways for TBC1D21 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TBC1D21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA 21873635
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
GO:0090630 activation of GTPase activity IBA 21873635
GO:1902017 NOT regulation of cilium assembly IMP 17646400
genes like me logo Genes that share ontologies with TBC1D21: view

No data available for Pathways by source and SIGNOR curated interactions for TBC1D21 Gene

Drugs & Compounds for TBC1D21 Gene

No Compound Related Data Available

Transcripts for TBC1D21 Gene

mRNA/cDNA for TBC1D21 Gene

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(18) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D21 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1:
SP2: -

Relevant External Links for TBC1D21 Gene

GeneLoc Exon Structure for
TBC1D21
ECgene alternative splicing isoforms for
TBC1D21

Expression for TBC1D21 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TBC1D21 Gene

mRNA differential expression in normal tissues according to GTEx for TBC1D21 Gene

This gene is overexpressed in Testis (x52.5).

Protein differential expression in normal tissues from HIPED for TBC1D21 Gene

This gene is overexpressed in Testis (44.5), Ovary (13.9), and Heart (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TBC1D21 Gene



Protein tissue co-expression partners for TBC1D21 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TBC1D21 Gene:

TBC1D21

SOURCE GeneReport for Unigene cluster for TBC1D21 Gene:

Hs.124512

mRNA Expression by UniProt/SwissProt for TBC1D21 Gene:

Q8IYX1-TBC21_HUMAN
Tissue specificity: Expressed in round and elongated spermatids (at protein level). Expressed specifically in adult testis and very weakly in fetal brain.

Evidence on tissue expression from TISSUES for TBC1D21 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with TBC1D21: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for TBC1D21 Gene

Orthologs for TBC1D21 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TBC1D21 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBC1D21 33 32
  • 99.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TBC1D21 33 32
  • 89.98 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TBC1D21 33 32
  • 89.97 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tbc1d21 17 33 32
  • 87.1 (n)
rat
(Rattus norvegicus)
Mammalia Tbc1d21 32
  • 86.41 (n)
oppossum
(Monodelphis domestica)
Mammalia TBC1D21 33
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D21 33
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBC1D21 33
  • 59 (a)
OneToOne
Species where no ortholog for TBC1D21 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TBC1D21 Gene

ENSEMBL:
Gene Tree for TBC1D21 (if available)
TreeFam:
Gene Tree for TBC1D21 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TBC1D21: view image

Paralogs for TBC1D21 Gene

(1) SIMAP similar genes for TBC1D21 Gene using alignment to 4 proteins:

  • TBC21_HUMAN
  • B9A6M2_HUMAN
  • H3BTA9_HUMAN
  • L0R6Q7_HUMAN
genes like me logo Genes that share paralogs with TBC1D21: view

Variants for TBC1D21 Gene

Sequence variations from dbSNP and Humsavar for TBC1D21 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000055982 -- 73,903,017(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000062051 -- 73,897,244(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000076726 -- 73,888,364(+) T/A intron_variant
rs1000106598 -- 73,902,759(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000274750 -- 73,909,484(+) A/G genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TBC1D21 Gene

Variant ID Type Subtype PubMed ID
esv3636895 CNV loss 21293372
esv3636896 CNV loss 21293372
nsv1121512 CNV deletion 24896259

Variation tolerance for TBC1D21 Gene

Residual Variation Intolerance Score: 63.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.27; 62.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TBC1D21 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D21

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D21 Gene

Disorders for TBC1D21 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TBC1D21 Gene - From: DISEASES

Disorder Aliases PubMed IDs
phacogenic glaucoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TBC1D21

genes like me logo Genes that share disorders with TBC1D21: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TBC1D21 Gene

Publications for TBC1D21 Gene

  1. Identification and characterization of a novel Rab GTPase-activating protein in spermatids. (PMID: 21128978) Lin YH … Kuo PL (International journal of andrology 2011) 2 3 4 56
  2. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PMID: 19077034) Ishibashi K … Fukuda M (Genes to cells : devoted to molecular & cellular mechanisms 2009) 3 4 56
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  4. Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population. (PMID: 24938310) Nakano M … Tashiro K (Scientific reports 2014) 3 56
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 56

Products for TBC1D21 Gene

Sources for TBC1D21 Gene