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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
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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
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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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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

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