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    TTC12 tetratricopeptide repeat domain 12 [ Homo sapiens (human) ]

    Gene ID: 54970, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TTC12provided by HGNC
    Official Full Name
    tetratricopeptide repeat domain 12provided by HGNC
    Primary source
    HGNC:HGNC:23700
    See related
    Ensembl:ENSG00000149292 MIM:610732; AllianceGenome:HGNC:23700
    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
    TPARM; CILD45
    Summary
    Involved in axonemal dynein complex assembly and sperm axoneme assembly. Located in centrosome and cytoplasm. Implicated in primary ciliary dyskinesia 45. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 10.6), thyroid (RPKM 3.1) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TTC12 in Genome Data Viewer
    Location:
    11q23.2
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (113314583..113373297)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (113325023..113383787)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (113185305..113244019)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene neural cell adhesion molecule 1 Neighboring gene NCAM1 antisense RNA1 Neighboring gene TTC12 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3908 Neighboring gene Sharpr-MPRA regulatory region 9915 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:113202304-113203503 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:113214693-113215892 Neighboring gene Sharpr-MPRA regulatory region 12815 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5539 Neighboring gene ankyrin repeat and kinase domain containing 1 Neighboring gene dopamine receptor D2 Neighboring gene microRNA 4301

    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. TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella. Thomas L, et al. Am J Hum Genet, 2020 Feb 6. PMID 31978331, Free PMC Article
    2. Hypermethylation of TTC12 gene in acute lymphoblastic leukemia. Wattanawaraporn R, et al. Leukemia, 2007 Nov. PMID 17657212
    3. Identification and characterization of TPARM gene in silico. Katoh M, et al. Int J Oncol, 2003 Oct. PMID 12964006
    4. Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes. Chen W, et al. Hum Genomics, 2022 Oct 22. PMID 36273201, Free PMC Article
    5. Sex differences in TTC12/ANKK1 haplotype associations with daily tobacco smoking in Black and White Americans. David SP, et al. Nicotine Tob Res, 2010 Mar. PMID 20133381, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes.
      Title: Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes.
    2. An association study in the Taiwan Biobank elicits three novel candidates for cognitive aging in old adults: NCAM1, TTC12 and ZBTB20.
      Title: An association study in the Taiwan Biobank elicits three novel candidates for cognitive aging in old adults: NCAM1, TTC12 and ZBTB20.
    3. TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.
      Title: TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.
    4. Meta-analysis found that the minor G-allele of rs2236709, mapping TTC12, was associated with self-reported smoking and higher plasma cotinine levels. This risk allele was linked to an increased ventral-striatal blood-oxygen level-dependent response during reward anticipation and with higher DRD2 gene expression in the striatum, but not with TTC12 or ANKK gene expression.
      Title: A neurobiological pathway to smoking in adolescence: TTC12-ANKK1-DRD2 variants and reward response.
    5. TTC12 SNP rs7130431 was associated with heroin dependence.
      Title: ANKK1, TTC12, and NCAM1 polymorphisms and heroin dependence: importance of considering drug exposure.
    6. TTC12-ANKK1-DRD2s seemed to influence smoking behavior mainly in adolescence, and its effect is partially mediated by personality characteristics promoting drug-seeking behavior.
      Title: TTC12-ANKK1-DRD2 and CHRNA5-CHRNA3-CHRNB4 influence different pathways leading to smoking behavior from adolescence to mid-adulthood.
    7. This study evaluated the interaction of ANKK1, TTC12, sex, and continental ancestry in tobacco smokers.
      Title: Sex differences in TTC12/ANKK1 haplotype associations with daily tobacco smoking in Black and White Americans.
    8. Genetic linkage tests conclude that variants in TTC12 exon 3 are involved in the regulation of risk for comorbid alcohol and drug dependence.
      Title: Haplotypic variants in DRD2, ANKK1, TTC12, and NCAM1 are associated with comorbid alcohol and drug dependence.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Sex differences in TTC12/ANKK1 haplotype associations with daily tobacco smoking in Black and White Americans.
    10. association studies of alcohol dependence and 43 SNPs mapped to the gene cluster of NCAM1, TTC12, ANKK1 and DRD2
      Title: Association of haplotypic variants in DRD2, ANKK1, TTC12 and NCAM1 to alcohol dependence in independent case control and family samples.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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
    Ciliary dyskinesia, primary, 45
    MedGen: C5394104 OMIM: 618801 GeneReviews: Not available
    		Compare labs

    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

    • FLJ13859, FLJ20535

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in axonemal dynein complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in axonemal dynein complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sperm axoneme assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sperm axoneme assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    tetratricopeptide repeat protein 12
    Names
    TPR repeat protein 12
    tetratricopeptide repeat and armadillo repeat protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001318533.2 → NP_001305462.1  tetratricopeptide repeat protein 12 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AP000880, BC011546, DA954030
      Consensus CDS
      CCDS81627.1
      UniProtKB/TrEMBL
      J3KR69, Q53G14
      Related
      ENSP00000419652.2, ENST00000483239.6
      Conserved Domains (7) summary
      cd00020
      Location:532 → 637
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00006
      Location:106 → 134
      TPR; TPR repeat [structural motif]
      cd15830
      Location:106 → 164
      BamD; BamD lipoprotein, a component of the beta-barrel assembly machinery
      pfam00515
      Location:143 → 168
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:106 → 168
      TPR_11; TPR repeat
      pfam13424
      Location:138 → 212
      TPR_12; Tetratricopeptide repeat
      sd00043
      Location:561 → 597
      ARM; armadillo repeat [structural motif]

    2. NM_001352037.2 → NP_001338966.1  tetratricopeptide repeat protein 12 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AP000880, AP002840
      UniProtKB/TrEMBL
      Q53G14
      Conserved Domains (3) summary
      sd00006
      Location:81 → 109
      TPR; TPR repeat [structural motif]
      sd00043
      Location:530 → 566
      ARM; armadillo repeat [structural motif]
      cl26005
      Location:25 → 168
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

    3. NM_001378063.1 → NP_001364992.1  tetratricopeptide repeat protein 12 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AP000880, AP002840
      UniProtKB/TrEMBL
      Q53G14
      Conserved Domains (3) summary
      TIGR00990
      Location:25 → 167
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      sd00006
      Location:81 → 109
      TPR; TPR repeat [structural motif]
      sd00043
      Location:556 → 592
      ARM; armadillo repeat [structural motif]

    4. NM_001378064.1 → NP_001364993.1  tetratricopeptide repeat protein 12 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7), as well as variants 2 and 9, encodes isoform 2.
      Source sequence(s)
      AP000880, AP002840
      Consensus CDS
      CCDS8360.2
      UniProtKB/Swiss-Prot
      Q8N5H9, Q9H892, Q9NWY3
      UniProtKB/TrEMBL
      A8K8G6, Q53G14
      Conserved Domains (3) summary
      TIGR00990
      Location:50 → 193
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      sd00006
      Location:106 → 134
      TPR; TPR repeat [structural motif]
      sd00043
      Location:555 → 591
      ARM; armadillo repeat [structural motif]

    5. NM_001378065.1 → NP_001364994.1  tetratricopeptide repeat protein 12 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9), as well as variants 2 and 7, encodes isoform 2.
      Source sequence(s)
      AP000880, AP002840
      Consensus CDS
      CCDS8360.2
      UniProtKB/Swiss-Prot
      Q8N5H9, Q9H892, Q9NWY3
      UniProtKB/TrEMBL
      A8K8G6, Q53G14
      Conserved Domains (3) summary
      TIGR00990
      Location:50 → 193
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      sd00006
      Location:106 → 134
      TPR; TPR repeat [structural motif]
      sd00043
      Location:555 → 591
      ARM; armadillo repeat [structural motif]

    6. NM_017868.4 → NP_060338.3  tetratricopeptide repeat protein 12 isoform 2

      See identical proteins and their annotated locations for NP_060338.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. Variants 2, 7, and 9 all encode the same isoform (2).
      Source sequence(s)
      AK023921, AK223117, DB110945
      Consensus CDS
      CCDS8360.2
      UniProtKB/Swiss-Prot
      Q8N5H9, Q9H892, Q9NWY3
      UniProtKB/TrEMBL
      A8K8G6, Q53G14
      Related
      ENSP00000433757.1, ENST00000529221.6
      Conserved Domains (3) summary
      TIGR00990
      Location:50 → 193
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      sd00006
      Location:106 → 134
      TPR; TPR repeat [structural motif]
      sd00043
      Location:555 → 591
      ARM; armadillo repeat [structural motif]

    RNA

    1. NR_147891.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP000880, BC032355
      Related
      ENST00000494714.5

    2. NR_165392.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP000880, AP002840
      Related
      ENST00000464224.5

    3. NR_165393.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP000880, AP002840

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      113314583..113373297
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      113325023..113383787
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001352038.2: Suppressed sequence

      Description
      NM_001352038.2: This RefSeq was removed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H892.2 GenPept UniProtKB/Swiss-Prot:Q9H892

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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