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    DNAH12 dynein axonemal heavy chain 12 [ Homo sapiens (human) ]

    Gene ID: 201625, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DNAH12provided by HGNC
    Official Full Name
    dynein axonemal heavy chain 12provided by HGNC
    Primary source
    HGNC:HGNC:2943
    See related
    Ensembl:ENSG00000174844 MIM:603340; AllianceGenome:HGNC:2943
    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
    DHC3; DLP3; HL19; DLP12; DNHD2; HDHC3; HL-19; DNAH7L; DNAHC3; DNAH12L; DNAHC12
    Summary
    Predicted to enable several functions, including ATP binding activity; ATP hydrolysis activity; and dynein intermediate chain binding activity. Predicted to be involved in microtubule-based movement. Predicted to be located in axoneme and microtubule. Predicted to be part of axonemal dynein complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis (RPKM 1.9), lung (RPKM 0.7) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DNAH12 in Genome Data Viewer
    Location:
    3p14.3
    Exon count:
    78
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (57293700..57556034, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (57333985..57596408, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (57327728..57530071, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:57233699-57234296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14480 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19986 Neighboring gene HESX homeobox 1 Neighboring gene uncharacterized LOC105377102 Neighboring gene adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 Neighboring gene MPRA-validated peak4664 silencer Neighboring gene uncharacterized LOC124909384 Neighboring gene MPRA-validated peak4666 silencer Neighboring gene ankyrin repeat and SOCS box containing 14 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57358479-57359002 Neighboring gene NANOG hESC enhancer GRCh37_chr3:57372950-57373478 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:57402873-57403048 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57434949-57435862 Neighboring gene small nucleolar RNA U13 Neighboring gene RNA, U6 small nuclear 1181, pseudogene Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:57529659-57530209 Neighboring gene RNA, U6 small nuclear 108, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19988 Neighboring gene ring finger protein 7 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:57543831-57544463 Neighboring gene ribosomal protein S8 pseudogene 5 Neighboring gene RNA, U6 small nuclear 483, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19989 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:57582608-57583807 Neighboring gene phosphodiesterase 12 Neighboring gene ARF GTPase 4 Neighboring gene ARF4 antisense RNA 1

    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. Activation of endosomal dynein motors by stepwise assembly of Rab7-RILP-p150Glued, ORP1L, and the receptor betalll spectrin. Johansson M, et al. J Cell Biol, 2007 Feb 12. PMID 17283181, Free PMC Article
    2. Dynein is required for receptor sorting and the morphogenesis of early endosomes. Driskell OJ, et al. Nat Cell Biol, 2007 Jan. PMID 17173037
    3. Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles. Vaisberg EA, et al. J Cell Biol, 1996 May. PMID 8666668, Free PMC Article
    4. Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry. Molina H, et al. Proc Natl Acad Sci U S A, 2007 Feb 13. PMID 17287340, Free PMC Article
    5. Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment. Chapelin C, et al. FEBS Lett, 1997 Jul 28. PMID 9256245

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Molecular reclassification of Crohn's disease by cluster analysis of genetic variants.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic risk profiling and prediction of disease course in Crohn's disease patients.
    4. Dynein will initiate translocation of late endosomes to microtubule minus ends only after interacting with betaIII spectrin, which requires the activities of Rab7-RILP and ORP1L.
      Title: Activation of endosomal dynein motors by stepwise assembly of Rab7-RILP-p150Glued, ORP1L, and the receptor betalll spectrin.
    5. We show that EGF relocates to the cell centre in a dynein-dependent fashion, concomitant with the sorting away of transferrin receptor, although it remains in Rab5-positive early endosomes.
      Title: Dynein is required for receptor sorting and the morphogenesis of early endosomes.
    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

    EBI GWAS Catalog

    Description
    A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ40427, FLJ44290

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables dynein intermediate chain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables dynein light intermediate chain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables minus-end-directed microtubule motor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in microtubule-based movement IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of axonemal dynein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    dynein axonemal heavy chain 12
    Names
    axonemal beta dynein heavy chain 12
    axonemal dynein heavy chain isotype3
    ciliary dynein heavy chain 12
    dynein heavy chain domain-containing protein 2
    dynein, axonemal, heavy polypeptide 12
    dynein, heavy chain-5

    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_001366028.2 → NP_001352957.1  dynein axonemal heavy chain 12 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) represents the longer transcript and encodes the longer isoform (4).
      Source sequence(s)
      AC092418, AC093928, AC121250, AC231288, AC232304
      Consensus CDS
      CCDS93294.1
      UniProtKB/TrEMBL
      E9PG32
      Related
      ENSP00000418137.2, ENST00000495027.6
      Conserved Domains (5) summary
      pfam03028
      Location:3255 → 3955
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08393
      Location:683 → 1110
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12781
      Location:2896 → 3112
      AAA_9; ATP-binding dynein motor region D5
      cl25732
      Location:591 → 752
      SMC_N; RecF/RecN/SMC N terminal domain
      cl25937
      Location:891 → 3605
      MT; Microtubule-binding stalk of dynein motor

    2. NM_198564.4 → NP_940966.2  dynein axonemal heavy chain 12 isoform 2

      See identical proteins and their annotated locations for NP_940966.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks multiple 3' exons but has an alternate 3' exon, as compared to variant 3. The resulting isoform (2) is much shorter and has a different C-terminus, as compared to isoform 3.
      Source sequence(s)
      AC092418, AK126276, CD684932, CD708076
      Consensus CDS
      CCDS33771.1
      UniProtKB/Swiss-Prot
      Q6ZR08
      Related
      ENSP00000312554.6, ENST00000311202.7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      57293700..57556034 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447667.1 → XP_047303623.1  dynein axonemal heavy chain 12 isoform X1

      UniProtKB/TrEMBL
      E9PG32

    2. XM_011533468.2 → XP_011531770.1  dynein axonemal heavy chain 12 isoform X2

      Conserved Domains (5) summary
      pfam03028
      Location:3230 → 3927
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08393
      Location:679 → 1110
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12777
      Location:2519 → 2839
      MT; Microtubule-binding stalk of dynein motor
      pfam12781
      Location:2875 → 3089
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:1238 → 1468
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    3. XM_047447668.1 → XP_047303624.1  dynein axonemal heavy chain 12 isoform X3

    4. XM_047447666.1 → XP_047303622.1  dynein axonemal heavy chain 12 isoform X1

      UniProtKB/TrEMBL
      E9PG32

    5. XM_047447669.1 → XP_047303625.1  dynein axonemal heavy chain 12 isoform X5

    6. XM_017005862.2 → XP_016861351.1  dynein axonemal heavy chain 12 isoform X7

    7. XM_017005860.2 → XP_016861349.1  dynein axonemal heavy chain 12 isoform X4

    8. XM_011533471.3 → XP_011531773.1  dynein axonemal heavy chain 12 isoform X6

      Conserved Domains (4) summary
      pfam08393
      Location:679 → 1110
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12777
      Location:2519 → 2860
      MT; Microtubule-binding stalk of dynein motor
      pfam12781
      Location:2896 → 3110
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:1238 → 1468
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    9. XM_011533474.2 → XP_011531776.1  dynein axonemal heavy chain 12 isoform X8

      Conserved Domains (1) summary
      pfam08393
      Location:679 → 1019
      DHC_N2; Dynein heavy chain, N-terminal region 2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      57333985..57596408 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345642.1 → XP_054201617.1  dynein axonemal heavy chain 12 isoform X1

    2. XM_054345643.1 → XP_054201618.1  dynein axonemal heavy chain 12 isoform X2

    3. XM_054345644.1 → XP_054201619.1  dynein axonemal heavy chain 12 isoform X3

    4. XM_054345641.1 → XP_054201616.1  dynein axonemal heavy chain 12 isoform X1

    5. XM_054345646.1 → XP_054201621.1  dynein axonemal heavy chain 12 isoform X5

    6. XM_054345648.1 → XP_054201623.1  dynein axonemal heavy chain 12 isoform X7

    7. XM_054345645.1 → XP_054201620.1  dynein axonemal heavy chain 12 isoform X4

    8. XM_054345647.1 → XP_054201622.1  dynein axonemal heavy chain 12 isoform X6

    9. XM_054345649.1 → XP_054201624.1  dynein axonemal heavy chain 12 isoform X8

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001291661.1: Suppressed sequence

      Description
      NM_001291661.1: This RefSeq has been removed because currently there is insufficient support for the transcript and protein.

    2. NM_178504.4: Suppressed sequence

      Description
      NM_178504.4: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZR08.2 GenPept UniProtKB/Swiss-Prot:Q6ZR08

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