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

Gene ID: 201625, updated on 26-Jun-2021

Summary

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
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
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

See DNAH12 in Genome Data Viewer
Location:
3p14.3
Exon count:
77
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (57293699..57545203, complement)
105.20201022 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 HESX homeobox 1 Neighboring gene uncharacterized LOC105377102 Neighboring gene adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 Neighboring gene ankyrin repeat and SOCS box containing 14 Neighboring gene RNA, U6 small nuclear 1181, pseudogene Neighboring gene RNA, U6 small nuclear 108, pseudogene Neighboring gene ring finger protein 7 pseudogene 1 Neighboring gene ribosomal protein S8 pseudogene 5 Neighboring gene RNA, U6 small nuclear 483, pseudogene Neighboring gene phosphodiesterase 12 Neighboring gene ADP ribosylation factor 4

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 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
located_in cilium IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
part_of dynein complex IEA
Inferred from Electronic Annotation
more info
 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
dynein axonemal heavy chain 12; dynein heavy chain 12, axonemal
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_001366028.2NP_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
    Related
    ENSP00000418137.2, ENST00000495027.5
    Conserved Domains (5) summary
    pfam03028
    Location:32553955
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:6831110
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12781
    Location:28963112
    AAA_9; ATP-binding dynein motor region D5
    cl25732
    Location:591752
    SMC_N; RecF/RecN/SMC N terminal domain
    cl25937
    Location:8913605
    MT; Microtubule-binding stalk of dynein motor
  2. NM_198564.4NP_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: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    57293699..57545203 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005861.1XP_016861350.1  dynein heavy chain 12, axonemal isoform X6

    Conserved Domains (5) summary
    pfam03028
    Location:27513448
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:179610
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:20192360
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:23962610
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:738968
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. XM_011533467.1XP_011531769.1  dynein heavy chain 12, axonemal isoform X2

    Conserved Domains (5) summary
    pfam03028
    Location:32403937
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:6681099
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:25082849
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:28853099
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:12271457
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  3. XM_011533468.1XP_011531770.1  dynein heavy chain 12, axonemal isoform X3

    Conserved Domains (5) summary
    pfam03028
    Location:32303927
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:6791110
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:25192839
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:28753089
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:12381468
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  4. XM_011533469.1XP_011531771.1  dynein heavy chain 12, axonemal isoform X4

    Conserved Domains (5) summary
    pfam03028
    Location:32043901
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:6791110
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:25192860
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:28963110
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:12381468
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  5. XM_017005862.1XP_016861351.1  dynein heavy chain 12, axonemal isoform X8

  6. XM_017005860.1XP_016861349.1  dynein heavy chain 12, axonemal isoform X5

  7. XM_011533471.2XP_011531773.1  dynein heavy chain 12, axonemal isoform X7

    Conserved Domains (4) summary
    pfam08393
    Location:6791110
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:25192860
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:28963110
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:12381468
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  8. XM_011533474.1XP_011531776.1  dynein heavy chain 12, axonemal isoform X9

    Conserved Domains (1) summary
    pfam08393
    Location:6791019
    DHC_N2; Dynein heavy chain, N-terminal region 2
  9. XM_017005863.1XP_016861352.1  dynein heavy chain 12, axonemal isoform X10

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.
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