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TTC21A tetratricopeptide repeat domain 21A [ Homo sapiens (human) ]

Gene ID: 199223, updated on 3-Apr-2024

Summary

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Official Symbol
TTC21Aprovided by HGNC
Official Full Name
tetratricopeptide repeat domain 21Aprovided by HGNC
Primary source
HGNC:HGNC:30761
See related
Ensembl:ENSG00000168026 MIM:611430; AllianceGenome:HGNC:30761
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
STI2; Thm2; SPGF37; IFT139A
Summary
Involved in flagellated sperm motility and spermatid development. Predicted to be located in cilium. Predicted to be part of intraciliary transport particle A. Implicated in spermatogenic failure 37. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 39.0) and lung (RPKM 1.7) See more
Orthologs
mouse all
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Genomic context

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Location:
3p22.2
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (39107680..39138900)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (39119844..39151076)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (39149171..39180391)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene sodium voltage-gated channel alpha subunit 11 Neighboring gene RNA, U6 small nuclear 1227, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:39092668-39093540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14216 Neighboring gene WD repeat domain 48 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:39144473-39144972 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14217 Neighboring gene golgi reassembly stacking protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14218 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:39166834-39167009 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:39177733-39178638 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:39187593-39188286 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:39188287-39188980 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14219 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19693 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:39193407-39194267 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:39194268-39195127 Neighboring gene uncharacterized LOC101928263 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:39195907-39196406 Neighboring gene microRNA 6822 Neighboring gene Sharpr-MPRA regulatory region 1375 Neighboring gene cysteine and serine rich nuclear protein 1 Neighboring gene uncharacterized LOC105377035 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14222

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Novel mutation in TTC21A triggers partial nonsense-mediated mRNA decay and causes male infertility with MMAF. Liu G, et al. Clin Genet, 2022 Nov. PMID 35920310
  2. Increased expression of TTC21A in lung adenocarcinoma infers favorable prognosis and high immune infiltrating level. Wang W, et al. Int Immunopharmacol, 2020 Jan. PMID 31812070
  3. Genetic interaction of mammalian IFT-A paralogs regulates cilia disassembly, ciliary entry of membrane protein, Hedgehog signaling, and embryogenesis. Wang W, et al. FASEB J, 2020 May. PMID 32167205, Free PMC Article
  4. Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice. Liu W, et al. Am J Hum Genet, 2019 Apr 4. PMID 30929735, Free PMC Article
  5. An integrated physical and gene map of the 3.5-Mb chromosome 3p21.3 (AP20) region implicated in major human epithelial malignancies. Protopopov A, et al. Cancer Res, 2003 Jan 15. PMID 12543795

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of TTC21A as a Potential Prognostic Marker in Head and Neck Squamous Cell Carcinoma: In Silico Analysis.
    Title: Identification of TTC21A as a Potential Prognostic Marker in Head and Neck Squamous Cell Carcinoma: In Silico Analysis.
  2. Novel mutation in TTC21A triggers partial nonsense-mediated mRNA decay and causes male infertility with MMAF.
    Title: Novel mutation in TTC21A triggers partial nonsense-mediated mRNA decay and causes male infertility with MMAF.
  3. Increased TTC21A expression in lung adenocarcinoma tissues is significantly correlated with pathological stage, tumor status and lymph nodes. Up-regulated TTC21A expression, negative results of pathological stage and distant metastasis are independent prognostic factors for good prognosis.
    Title: Increased expression of TTC21A in lung adenocarcinoma infers favorable prognosis and high immune infiltrating level.
  4. bi-allelic mutations in TTC21A can induce asthenoteratospermia with defects of the sperm flagella and head-tail conjunction
    Title: Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Spermatogenic failure 37
MedGen: C5193091 OMIM: 618429 GeneReviews: Not available
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EBI GWAS Catalog

Description
Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC70523, MGC156293, DKFZp686P18239

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in flagellated sperm motility IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intraciliary retrograde transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein localization to cilium IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in spermatid development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cilium IEA
Inferred from Electronic Annotation
more info
  
part_of intraciliary transport particle A IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
tetratricopeptide repeat protein 21A
Names
TPR domain containing STI2
TPR repeat protein 21A
stress-inducible protein 2
testicular tissue protein Li 212

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001105513.3 → NP_001098983.2  tetratricopeptide repeat protein 21A isoform 1

    Status: VALIDATED

    Source sequence(s)
    AA843452, AK093313, AK098528, AK302465, DC403032
    Consensus CDS
    CCDS43068.2
    UniProtKB/TrEMBL
    A0A0B4J1Y2
    Related
    ENSP00000410882.1, ENST00000440121.1
    Conserved Domains (5) summary
    sd00006
    Location:684 → 708
    TPR; TPR repeat [structural motif]
    pfam12895
    Location:467 → 550
    ANAPC3; Anaphase-promoting complex, cyclosome, subunit 3
    pfam13414
    Location:1156 → 1217
    TPR_11; TPR repeat
    pfam13432
    Location:684 → 747
    TPR_16; Tetratricopeptide repeat
    pfam14559
    Location:851 → 918
    TPR_19; Tetratricopeptide repeat

  2. NM_001366899.1 → NP_001353828.1  tetratricopeptide repeat protein 21A isoform 3

    Status: VALIDATED

    Source sequence(s)
    HM005525
    UniProtKB/TrEMBL
    A0A0B4J1Y2, A0A140VJY5
    Conserved Domains (3) summary
    sd00006
    Location:733 → 757
    TPR; TPR repeat [structural motif]
    cl26000
    Location:1103 → 1233
    YciM; Lipopolysaccharide biosynthesis regulator YciM, contains six TPR domains and a predicted metal-binding C-terminal domain [Cell wall/membrane/envelope biogenesis]
    cl26002
    Location:322 → 1055
    TPR_11; TPR repeat

  3. NM_001366900.1 → NP_001353829.1  tetratricopeptide repeat protein 21A isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC092053, AC138124
    Consensus CDS
    CCDS93247.1
    UniProtKB/TrEMBL
    A0A0B4J1Y2, A0A804HK20
    Related
    ENSP00000507739.1, ENST00000683103.1

  4. NM_145755.3 → NP_665698.2  tetratricopeptide repeat protein 21A isoform 2

    See identical proteins and their annotated locations for NP_665698.2

    Status: VALIDATED

    Source sequence(s)
    AA843452, AJ487015, AK093313, AK098528, DB094952, DC403032
    Consensus CDS
    CCDS46800.1
    UniProtKB/Swiss-Prot
    A1L388, B4DYF6, B4DYJ3, D3YTE7, D4PHA5, Q6P5W8, Q8N7G5, Q8NA02, Q8NDW8
    UniProtKB/TrEMBL
    A0A0B4J1Y2
    Related
    ENSP00000398211.2, ENST00000431162.6
    Conserved Domains (5) summary
    sd00006
    Location:732 → 756
    TPR; TPR repeat [structural motif]
    pfam12895
    Location:518 → 598
    ANAPC3; Anaphase-promoting complex, cyclosome, subunit 3
    pfam13414
    Location:1204 → 1265
    TPR_11; TPR repeat
    pfam13432
    Location:732 → 795
    TPR_16; Tetratricopeptide repeat
    pfam14559
    Location:899 → 966
    TPR_19; Tetratricopeptide repeat

RNA

  1. NR_159494.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC092053, AC138124, BC129948
    Related
    ENST00000430597.6

  2. NR_159495.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC092053, AC138124

  3. NR_159496.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC092053, AC138124

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    39107680..39138900
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047447647.1 → XP_047303603.1  tetratricopeptide repeat protein 21A isoform X3

  2. XM_005264921.6 → XP_005264978.1  tetratricopeptide repeat protein 21A isoform X1

    UniProtKB/TrEMBL
    A0A0B4J1Y2
    Conserved Domains (5) summary
    sd00006
    Location:725 → 749
    TPR; TPR repeat [structural motif]
    pfam12895
    Location:508 → 591
    ANAPC3; Anaphase-promoting complex, cyclosome, subunit 3
    pfam13414
    Location:1211 → 1272
    TPR_11; TPR repeat
    pfam13432
    Location:725 → 788
    TPR_16; Tetratricopeptide repeat
    pfam14559
    Location:892 → 959
    TPR_19; Tetratricopeptide repeat

  3. XM_005264922.6 → XP_005264979.1  tetratricopeptide repeat protein 21A isoform X2

    UniProtKB/TrEMBL
    A0A0B4J1Y2
    Conserved Domains (5) summary
    sd00006
    Location:725 → 749
    TPR; TPR repeat [structural motif]
    pfam12895
    Location:508 → 591
    ANAPC3; Anaphase-promoting complex, cyclosome, subunit 3
    pfam13414
    Location:1206 → 1267
    TPR_11; TPR repeat
    pfam13432
    Location:725 → 788
    TPR_16; Tetratricopeptide repeat
    pfam14559
    Location:892 → 959
    TPR_19; Tetratricopeptide repeat

  4. XM_006713011.5 → XP_006713074.1  tetratricopeptide repeat protein 21A isoform X4

    UniProtKB/TrEMBL
    A0A0B4J1Y2
    Conserved Domains (5) summary
    sd00006
    Location:725 → 749
    TPR; TPR repeat [structural motif]
    pfam12895
    Location:508 → 591
    ANAPC3; Anaphase-promoting complex, cyclosome, subunit 3
    pfam13414
    Location:1202 → 1263
    TPR_11; TPR repeat
    pfam13432
    Location:725 → 788
    TPR_16; Tetratricopeptide repeat
    pfam14559
    Location:892 → 959
    TPR_19; Tetratricopeptide repeat

  5. XM_005264924.6 → XP_005264981.1  tetratricopeptide repeat protein 21A isoform X6

    UniProtKB/TrEMBL
    A0A0B4J1Y2
    Conserved Domains (4) summary
    sd00006
    Location:497 → 522
    TPR; TPR repeat [structural motif]
    pfam12895
    Location:508 → 591
    ANAPC3; Anaphase-promoting complex, cyclosome, subunit 3
    pfam13414
    Location:1174 → 1235
    TPR_11; TPR repeat
    pfam14559
    Location:855 → 922
    TPR_19; Tetratricopeptide repeat

  6. XM_047447648.1 → XP_047303604.1  tetratricopeptide repeat protein 21A isoform X8

  7. XM_047447650.1 → XP_047303606.1  tetratricopeptide repeat protein 21A isoform X10

  8. XM_005264926.6 → XP_005264983.1  tetratricopeptide repeat protein 21A isoform X11

    UniProtKB/TrEMBL
    A0A0B4J1Y2
    Conserved Domains (4) summary
    sd00006
    Location:497 → 522
    TPR; TPR repeat [structural motif]
    pfam12895
    Location:508 → 591
    ANAPC3; Anaphase-promoting complex, cyclosome, subunit 3
    pfam13414
    Location:1093 → 1154
    TPR_11; TPR repeat
    pfam14559
    Location:774 → 841
    TPR_19; Tetratricopeptide repeat

  9. XM_047447651.1 → XP_047303607.1  tetratricopeptide repeat protein 21A isoform X12

  10. XM_017005843.3 → XP_016861332.1  tetratricopeptide repeat protein 21A isoform X13

    UniProtKB/TrEMBL
    A0A0B4J1Y2

  11. XM_011533447.4 → XP_011531749.1  tetratricopeptide repeat protein 21A isoform X5

    UniProtKB/TrEMBL
    A0A0B4J1Y2
    Conserved Domains (5) summary
    sd00006
    Location:692 → 716
    TPR; TPR repeat [structural motif]
    pfam12895
    Location:475 → 558
    ANAPC3; Anaphase-promoting complex, cyclosome, subunit 3
    pfam13414
    Location:1178 → 1239
    TPR_11; TPR repeat
    pfam13432
    Location:692 → 755
    TPR_16; Tetratricopeptide repeat
    pfam14559
    Location:859 → 926
    TPR_19; Tetratricopeptide repeat

  12. XM_047447649.1 → XP_047303605.1  tetratricopeptide repeat protein 21A isoform X9

  13. XM_005264925.6 → XP_005264982.1  tetratricopeptide repeat protein 21A isoform X7

    UniProtKB/TrEMBL
    A0A0B4J1Y2
    Conserved Domains (5) summary
    sd00006
    Location:684 → 708
    TPR; TPR repeat [structural motif]
    pfam12895
    Location:467 → 550
    ANAPC3; Anaphase-promoting complex, cyclosome, subunit 3
    pfam13414
    Location:1170 → 1231
    TPR_11; TPR repeat
    pfam13432
    Location:684 → 747
    TPR_16; Tetratricopeptide repeat
    pfam14559
    Location:851 → 918
    TPR_19; Tetratricopeptide repeat

  14. XM_047447652.1 → XP_047303608.1  tetratricopeptide repeat protein 21A isoform X14

  15. XM_047447653.1 → XP_047303609.1  tetratricopeptide repeat protein 21A isoform X15

  16. XM_047447654.1 → XP_047303610.1  tetratricopeptide repeat protein 21A isoform X17

  17. XM_024453382.2 → XP_024309150.1  tetratricopeptide repeat protein 21A isoform X18

    Conserved Domains (2) summary
    sd00006
    Location:725 → 749
    TPR; TPR repeat [structural motif]
    cl26002
    Location:5 → 775
    TPR_11; TPR repeat

  18. XM_011533449.3 → XP_011531751.1  tetratricopeptide repeat protein 21A isoform X19

    Conserved Domains (3) summary
    COG0457
    Location:28 → 246
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:497 → 522
    TPR; TPR repeat [structural motif]
    pfam12895
    Location:508 → 591
    ANAPC3; Anaphase-promoting complex, cyclosome, subunit 3

  19. XM_005264927.5 → XP_005264984.1  tetratricopeptide repeat protein 21A isoform X16

    UniProtKB/TrEMBL
    A0A0B4J1Y2
    Conserved Domains (5) summary
    sd00006
    Location:538 → 562
    TPR; TPR repeat [structural motif]
    pfam12895
    Location:321 → 404
    ANAPC3; Anaphase-promoting complex, cyclosome, subunit 3
    pfam13414
    Location:1024 → 1085
    TPR_11; TPR repeat
    pfam13432
    Location:538 → 601
    TPR_16; Tetratricopeptide repeat
    pfam14559
    Location:705 → 772
    TPR_19; Tetratricopeptide repeat

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    39119844..39151076
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054345586.1 → XP_054201561.1  tetratricopeptide repeat protein 21A isoform X3

  2. XM_054345584.1 → XP_054201559.1  tetratricopeptide repeat protein 21A isoform X1

  3. XM_054345585.1 → XP_054201560.1  tetratricopeptide repeat protein 21A isoform X2

  4. XM_054345587.1 → XP_054201562.1  tetratricopeptide repeat protein 21A isoform X4

  5. XM_054345589.1 → XP_054201564.1  tetratricopeptide repeat protein 21A isoform X6

  6. XM_054345591.1 → XP_054201566.1  tetratricopeptide repeat protein 21A isoform X8

  7. XM_054345593.1 → XP_054201568.1  tetratricopeptide repeat protein 21A isoform X10

  8. XM_054345594.1 → XP_054201569.1  tetratricopeptide repeat protein 21A isoform X11

  9. XM_054345595.1 → XP_054201570.1  tetratricopeptide repeat protein 21A isoform X12

  10. XM_054345596.1 → XP_054201571.1  tetratricopeptide repeat protein 21A isoform X13

  11. XM_054345588.1 → XP_054201563.1  tetratricopeptide repeat protein 21A isoform X5

  12. XM_054345592.1 → XP_054201567.1  tetratricopeptide repeat protein 21A isoform X9

  13. XM_054345590.1 → XP_054201565.1  tetratricopeptide repeat protein 21A isoform X7

  14. XM_054345597.1 → XP_054201572.1  tetratricopeptide repeat protein 21A isoform X14

  15. XM_054345598.1 → XP_054201573.1  tetratricopeptide repeat protein 21A isoform X15

  16. XM_054345600.1 → XP_054201575.1  tetratricopeptide repeat protein 21A isoform X17

  17. XM_054345601.1 → XP_054201576.1  tetratricopeptide repeat protein 21A isoform X18

  18. XM_054345602.1 → XP_054201577.1  tetratricopeptide repeat protein 21A isoform X19

  19. XM_054345599.1 → XP_054201574.1  tetratricopeptide repeat protein 21A isoform X16

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NDW8.3 GenPept UniProtKB/Swiss-Prot:Q8NDW8

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