Aliases for TTC21A Gene

Aliases for TTC21A Gene

  • Tetratricopeptide Repeat Domain 21A 2 3 5
  • Tetratricopeptide Repeat Protein 21A 3 4
  • Stress-Inducible Protein 2 3 4
  • TPR Repeat Protein 21A 3 4
  • STI2 3 4
  • Testicular Tissue Protein Li 212 3
  • TPR Domain Containing STI2 3
  • IFT139A 3
  • SPGF37 3

External Ids for TTC21A Gene

Previous GeneCards Identifiers for TTC21A Gene

  • GC03P039125
  • GC03P039149

Summaries for TTC21A Gene

GeneCards Summary for TTC21A Gene

TTC21A (Tetratricopeptide Repeat Domain 21A) is a Protein Coding gene. Diseases associated with TTC21A include Spermatogenic Failure 37 and Non-Syndromic Male Infertility Due To Sperm Motility Disorder. An important paralog of this gene is TTC21B.

UniProtKB/Swiss-Prot Summary for TTC21A Gene

  • Intraflagellar transport (IFT)-associated protein required for spermatogenesis (PubMed:30929735). Required for sperm flagellar formation and intraflagellar transport (PubMed:30929735).

Additional gene information for TTC21A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TTC21A Gene

Genomics for TTC21A Gene

GeneHancer (GH) Regulatory Elements for TTC21A Gene

Promoters and enhancers for TTC21A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TTC21A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TTC21A

Top Transcription factor binding sites by QIAGEN in the TTC21A gene promoter:
  • AML1a
  • COMP1
  • E47
  • HNF-4alpha1
  • LCR-F1
  • NCX
  • NF-1
  • NF-1/L
  • Pax-5
  • Tal-1

Genomic Locations for TTC21A Gene

Genomic Locations for TTC21A Gene
chr3:39,107,661-39,138,994
(GRCh38/hg38)
Size:
31,334 bases
Orientation:
Plus strand
chr3:39,149,152-39,180,394
(GRCh37/hg19)
Size:
31,243 bases
Orientation:
Plus strand

Genomic View for TTC21A Gene

Genes around TTC21A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTC21A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTC21A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTC21A Gene

Proteins for TTC21A Gene

  • Protein details for TTC21A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NDW8-TT21A_HUMAN
    Recommended name:
    Tetratricopeptide repeat protein 21A
    Protein Accession:
    Q8NDW8
    Secondary Accessions:
    • A1L388
    • B4DYF6
    • B4DYJ3
    • D3YTE7
    • D4PHA5
    • Q6P5W8
    • Q8N7G5
    • Q8NA02

    Protein attributes for TTC21A Gene

    Size:
    1320 amino acids
    Molecular mass:
    150944 Da
    Quaternary structure:
    • Interacts with IFT20 (PubMed:30929735). Interacts with IFT52 (PubMed:30929735). Interacts with IFT140 (PubMed:30929735).
    SequenceCaution:
    • Sequence=BAC04129.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for TTC21A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TTC21A Gene

Post-translational modifications for TTC21A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TTC21A Gene

Domains & Families for TTC21A Gene

Protein Domains for TTC21A Gene

Suggested Antigen Peptide Sequences for TTC21A Gene

GenScript: Design optimal peptide antigens:
  • Stress-inducible protein 2 (TT21A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NDW8

UniProtKB/Swiss-Prot:

TT21A_HUMAN :
  • Belongs to the TTC21 family.
Family:
  • Belongs to the TTC21 family.
genes like me logo Genes that share domains with TTC21A: view

Function for TTC21A Gene

Molecular function for TTC21A Gene

UniProtKB/Swiss-Prot Function:
Intraflagellar transport (IFT)-associated protein required for spermatogenesis (PubMed:30929735). Required for sperm flagellar formation and intraflagellar transport (PubMed:30929735).

Phenotypes From GWAS Catalog for TTC21A Gene

genes like me logo Genes that share phenotypes with TTC21A: view

Human Phenotype Ontology for TTC21A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for TTC21A Gene

miRTarBase miRNAs that target TTC21A

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTC21A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for TTC21A Gene

Localization for TTC21A Gene

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 TTC21A gene
Compartment Confidence
cytoskeleton 2
nucleus 2
cytosol 2
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TTC21A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005929 cilium IEA --
GO:0030991 intraciliary transport particle A IBA 21873635
genes like me logo Genes that share ontologies with TTC21A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TTC21A Gene

Pathways & Interactions for TTC21A Gene

PathCards logo

SuperPathways for TTC21A Gene

No Data Available

Gene Ontology (GO) - Biological Process for TTC21A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007286 spermatid development IMP 30929735
GO:0030317 flagellated sperm motility IMP 30929735
GO:0035721 intraciliary retrograde transport IBA 21873635
GO:0061512 protein localization to cilium IBA 21873635
genes like me logo Genes that share ontologies with TTC21A: view

No data available for Pathways by source and SIGNOR curated interactions for TTC21A Gene

Drugs & Compounds for TTC21A Gene

No Compound Related Data Available

Transcripts for TTC21A Gene

mRNA/cDNA for TTC21A Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTC21A

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TTC21A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^
SP1: -
SP2:
SP3:
SP4:
SP5: -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 21 ^ 22a · 22b · 22c ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26a · 26b · 26c ^ 27 ^ 28a · 28b ^ 29 ^ 30 ^ 31
SP1: - - - - - -
SP2: - - - - -
SP3: - - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: - - -
SP10:
SP11:
SP12:
SP13: -

Relevant External Links for TTC21A Gene

GeneLoc Exon Structure for
TTC21A

Expression for TTC21A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TTC21A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TTC21A Gene

This gene is overexpressed in Testis (x12.4).

Protein differential expression in normal tissues from HIPED for TTC21A Gene

This gene is overexpressed in Ovary (38.6), Testis (17.9), and Blymphocyte (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TTC21A Gene



Protein tissue co-expression partners for TTC21A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TTC21A

SOURCE GeneReport for Unigene cluster for TTC21A Gene:

Hs.443935

mRNA Expression by UniProt/SwissProt for TTC21A Gene:

Q8NDW8-TT21A_HUMAN
Tissue specificity: Strongly expressed in testis.

Evidence on tissue expression from TISSUES for TTC21A Gene

  • Pancreas(4)
genes like me logo Genes that share expression patterns with TTC21A: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TTC21A Gene

Orthologs for TTC21A Gene

This gene was present in the common ancestor of animals.

Orthologs for TTC21A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TTC21A 31 30
  • 99.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TTC21A 31 30
  • 85.29 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TTC21A 31 30
  • 83.67 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ttc21a 30
  • 81.02 (n)
mouse
(Mus musculus)
Mammalia Ttc21a 17 31 30
  • 80.34 (n)
oppossum
(Monodelphis domestica)
Mammalia TTC21A 31
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTC21A 31
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTC21A 31
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485767 30
  • 62.77 (n)
zebrafish
(Danio rerio)
Actinopterygii TTC21A 31
  • 47 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ZK328.7 31
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 38 (a)
OneToMany
Species where no ortholog for TTC21A 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 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)
  • wheat (Triticum aestivum)

Evolution for TTC21A Gene

ENSEMBL:
Gene Tree for TTC21A (if available)
TreeFam:
Gene Tree for TTC21A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TTC21A: view image

Paralogs for TTC21A Gene

Paralogs for TTC21A Gene

(1) SIMAP similar genes for TTC21A Gene using alignment to 2 proteins:

  • TT21A_HUMAN
  • F8WDN4_HUMAN
genes like me logo Genes that share paralogs with TTC21A: view

Variants for TTC21A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TTC21A Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs148431487 Pathogenic: SPERMATOGENIC FAILURE 37 39,136,512(+) G/T INTRON_VARIANT
rs1559674534 Pathogenic: SPERMATOGENIC FAILURE 37 39,114,743(+) G/A SPLICE_DONOR_VARIANT
rs1559708295 Pathogenic: SPERMATOGENIC FAILURE 37 39,131,074(+) TG/T NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
rs750057655 Pathogenic: SPERMATOGENIC FAILURE 37. Spermatogenic failure 37 (SPGF37) [MIM:618429] 39,110,923(+) A/Gp.Tyr114Cys MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs780431020 Pathogenic: SPERMATOGENIC FAILURE 37 39,130,347(+) C/T NONSENSE,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for TTC21A Gene

Structural Variations from Database of Genomic Variants (DGV) for TTC21A Gene

Variant ID Type Subtype PubMed ID
nsv590102 CNV loss 21841781

Variation tolerance for TTC21A Gene

Residual Variation Intolerance Score: 88.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 19.75; 98.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TTC21A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTC21A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTC21A Gene

Disorders for TTC21A Gene

MalaCards: The human disease database

(4) MalaCards diseases for TTC21A Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spermatogenic failure 37
  • spgf37
non-syndromic male infertility due to sperm motility disorder
  • non-syndromic male infertility due asthenozoospermia
spleen cancer
  • malignant splenic tumor
cranioectodermal dysplasia 1
  • ced
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TT21A_HUMAN
  • Spermatogenic failure 37 (SPGF37) [MIM:618429]: An autosomal recessive infertility disorder characterized by asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic abnormalities, primarily consisting of short or absent flagella, and neck defects at the head-tail junction. {ECO:0000269 PubMed:30929735}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TTC21A

genes like me logo Genes that share disorders with TTC21A: view

No data available for Genatlas for TTC21A Gene

Publications for TTC21A Gene

  1. Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice. (PMID: 30929735) Liu W … Zhang F (American journal of human genetics 2019) 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. (PMID: 29676528) Khanna R … Parnaik VK (The FEBS journal 2018) 3 54
  4. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 54
  5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 54

Products for TTC21A Gene

Sources for TTC21A Gene