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

    Gene ID: 199223, updated on 5-May-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
    		Compare labs

    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

    Gene LinkOut

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