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

Gene ID: 201625, updated on 7-Apr-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; dynein intermediate chain binding activity; and dynein light intermediate chain binding activity. Predicted to be involved in microtubule-based movement. Predicted to be located in cilium; cytoplasm; and microtubule. Predicted to be part of dynein complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 1.9), lung (RPKM 0.7) and 2 other tissues See more
Orthologs
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Genomic context

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Location:
3p14.3
Exon count:
78
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (57293700..57556034, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (57333985..57596408, complement)
105.20220307 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 ADP ribosylation factor 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 (25) 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)

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

  • 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_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
    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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