Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms of Use
- Terms of Use
- 3rd Party Notice
About Us
- GeneCards Team
- Our Publications
- Citing GeneCards
- Licensing Agreement
- Weizmann Institute
- LifeMap Sciences Inc
User Feedback
GeneCards Plus
- Premium Tools
  
  Learn more

Set Analyses:

Advanced Search

DNAH12 Gene

protein-coding GIFtS: 47
GCID: GC03M057406

Dynein, Axonemal, Heavy Chain 12

(Previous names: dynein, axonemal, heavy polypeptide 12, dynein heavy chain...)
(Previous symbols: DNHD2, DNAH12L, DNAH7L)

See related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

TryGeneCards Plus

Aliases
Dynein, Axonemal, Heavy Chain 12¹ ²		Dynein Heavy Chain Domain 2¹
DNAH12L¹ ² ³		Dynein Heavy Domain 2¹
DNAH7L¹ ² ³		Dynein, Axonemal, Heavy Chain 12-Like¹
DNHD2¹ ² ³		Dynein, Axonemal, Heavy Chain 7-Like¹
DNAHC3² ³ ⁵		DNAHC12²
HL19² ³ ⁵		HL-19²
Dynein, Axonemal, Heavy Polypeptide 12¹ ²		Axonemal Dynein Heavy Chain Isotype3²
Axonemal Beta Dynein Heavy Chain 12² ³		Dynein Heavy Chain 12, Axonemal²
Ciliary Dynein Heavy Chain 12² ³		Dynein, Heavy Chain-5²
Dynein Heavy Chain Domain-Containing Protein 2² ³		Axonemal Dynein Heavy Chain 12-Like Protein³
DHC3² ³		Axonemal Dynein Heavy Chain 7-Like Protein³
DLP12² ³		Dynein Heavy Chain 7-Like, Axonemal³
HDHC3² ³

External Ids:	HGNC: 2943¹	Entrez Gene: 201625²	Ensembl: ENSG00000174844⁷	OMIM: 603340⁵	UniProtKB: Q6ZR08³

Export aliases for DNAH12 gene to outside databases

Previous GC identifers: GC03M056215 GC03M056785 GC03M057285 GC03M057388 GC03U900611 GC03M057432

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

GeneCards Summary for DNAH12 Gene:

DNAH12 (dynein, axonemal, heavy chain 12) is a protein-coding gene. Diseases associated with DNAH12 include primary ciliary dyskinesia, and situs inversus. GO annotations related to this gene include microtubule motor activity and ATPase activity.

UniProtKB/Swiss-Prot: DYH12_HUMAN, Q6ZR08

Function: Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules.

Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in

sperm motility; implicated in sperm flagellar assembly (By similarity)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus

RefSeq DNA sequence:

NC_000003.12 NT_022517.19 NC_018914.2

Regulatory elements:

Regulatory transcription factor binding sites in the DNAH12 gene promoter:
USF-1 Nkx2-2 Zic1 POU6F1 (c2) LCR-F1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DNAH12 promoter sequence

Search Chromatin IP Primers for DNAH12

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DNAH12

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p14.3 Ensembl cytogenetic band: 3p14.3 HGNC cytogenetic band: 3p21.1

DNAH12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNAH12 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M057406: view genomic region (about GC identifiers)

Start:	57,327,727 bp from pter	End:	57,530,071 bp from pter
Size:	202,345 bases	Orientation:	minus strand

1 alternative location:

Chr3-,NW_003315911 16,574-78,468

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: DYH12_HUMAN, Q6ZR08 (See protein sequence)

Recommended Name: Dynein heavy chain 12, axonemal

Size: 3092 amino acids; 356942 Da

Subunit: Consists of at least two heavy chains and a number of intermediate and light chains

Caution: Was originally derived from a readthrough transcript including ASB14 and DNAH12. DNHD2 was thought to be

a distinct gene

Sequence caution: Sequence=AAB09729.1; Type=Frameshift; Positions=1211, 1213, 1215;

Secondary accessions: A6NGI2 Q6ZTR8 Q8N7R9 Q8WXK2 Q92816

Alternative splicing: 4 isoforms: Q6ZR08-1 Q6ZR08-4 Q6ZR08-2 Q6ZR08-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DNAH12: NX_Q6ZR08

Explore proteomics data for DNAH12 at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See DNAH12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_848599.3 NP_940966.2

ENSEMBL proteins:

ENSP00000420554 ENSP00000420717 ENSP00000420359 ENSP00000418137 ENSP00000374187

ENSP00000312554 ENSP00000295937 ENSP00000340464

DNAH12 Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom MassSpec OriGene Custom Protein Services for DNAH12
	GenScript Custom Purified and Recombinant Proteins Services for DNAH12
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for DNAH12

DNAH12 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for DNAH12
	Novus Biologicals DNAH12 Antibody
	Abcam antibodies for DNAH12
	Cloud-Clone Corp. Antibodies for DNAH12
	Search ThermoFisher Antibodies for DNAH12
	LSBio Antibodies in human, mouse, rat for DNAH12

DNAH12 Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for DNAH12
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for DNAH12
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for DNAH12 Cloud-Clone Corp. CLIAs for DNAH12

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TryGeneCards Plus

HGNC Gene Families:

DN: Axonemal dyneins

Selected InterPro protein domains (see all 7):

IPR004273 Dynein_heavy_dom

IPR024317 Dynein_heavy_chain_D4_dom

IPR011704 ATPase_dyneun-rel_AAA

IPR013602 Dynein_heavy_dom-2

IPR027417 P-loop_NTPase

Graphical View of Domain Structure for InterPro Entry Q6ZR08

ProtoNet protein and cluster: Q6ZR08

UniProtKB/Swiss-Prot: DYH12_HUMAN, Q6ZR08

Domain: Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other

dynein components), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head,

which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and

AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not

clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two

non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes

ATP, the others may serve a regulatory function (By similarity)

Similarity: Belongs to the dynein heavy chain family

DNAH12 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

Molecular Function:

UniProtKB/Swiss-Prot Summary: DYH12_HUMAN, Q6ZR08

Function: Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules.

Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in

sperm motility; implicated in sperm flagellar assembly (By similarity)

Genatlas biochemistry entry for DNAH12:

dynein,axonemal,motor protein interacting with microtubules,heavy chain 12,predominantly expressed in trachea and

testis,involved in intracellular movement of organelles and vesicles or in the orientation of the mitotic spindle

apparatus,with ATPase activity

Gene Ontology (GO): 5 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	--	--
GO:0003777	microtubule motor activity	IEA	--
GO:0005524	ATP binding	IEA	--
GO:0016887	ATPase activity	IEA	--
GO:0017111	nucleoside-triphosphatase activity	--	--

DNAH12 for ontologies About GeneDecksing

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DNAH12

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DNAH12

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DNAH12

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DNAH12

miRNA Products:		Block miRNA regulation of human, mouse, rat DNAH12 using miScript Target Protectors
		Search for qRT-PCR Assays for microRNAs that regulate DNAH12
		SwitchGear 3'UTR luciferase reporter plasmid: DNAH12 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for DNAH12
		Predesigned siRNA for gene silencing in human, mouse, rat DNAH12

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for DNAH12

Clone Products:		OriGene clones in human, mouse for DNAH12 (see all 7) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): DNAH12 (NM_178504)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DNAH12
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DNAH12

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for DNAH12
		Browse ESI BIO Cell Lines and PureStem Progenitors for DNAH12

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAH12

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

Subcellular locations from UniProtKB/Swiss-Prot

DYH12_HUMAN, Q6ZR08: Cytoplasm, cytoskeleton, cilium axoneme (Potential)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytoskeleton	3
cytosol	3
endosome	1
golgi apparatus	1
mitochondrion	1
nucleus	1
peroxisome	1

About this image

Gene Ontology (GO): 4 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--
GO:0005874	microtubule	IEA	--
GO:0005929	cilium	IEA	--
GO:0030286	dynein complex	IEA	--

DNAH12 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
About This Section

TryGeneCards Plus

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for DNAH12
Interactions:

Search GeneGlobe Interaction Network for DNAH12

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for DNAH12 (ENSP00000295937⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 52)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DCTN2	ENSP00000408910⁴	STRING: ENSP00000408910
DNAH1	ENSP00000401514⁴	STRING: ENSP00000401514
DNAH10	ENSP00000386770⁴	STRING: ENSP00000386770
DNAH14	ENSP00000414402⁴	STRING: ENSP00000414402
DNAH17	ENSP00000374490⁴	STRING: ENSP00000374490

About this table

Gene Ontology (GO): 1 biological process term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007018	microtubule-based movement	IEA	--

DNAH12 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
About This Section

TryGeneCards Plus

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for DNAH12 (DYH12)

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
About This Section

TryGeneCards Plus

REFSEQ mRNAs for DNAH12 gene (2 alternative transcripts):

NM_178504.4 NM_198564.3

Unigene Cluster for DNAH12:

Dynein, axonemal, heavy chain 12

Hs.201378 [show with all ESTs]

Unigene Representative Sequence: NM_178504

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000462199(uc010hnc.2) ENST00000462713 ENST00000494758 ENST00000479363

ENST00000466540 ENST00000495027 ENST00000389536 ENST00000311202(uc003diu.2)

ENST00000351747(uc003dit.2) ENST00000344804

miRNA Products:		Block miRNA regulation of human, mouse, rat DNAH12 using miScript Target Protectors
		Search for qRT-PCR Assays for microRNAs that regulate DNAH12
		SwitchGear 3'UTR luciferase reporter plasmid: DNAH12 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for DNAH12
		Predesigned siRNA for gene silencing in human, mouse, rat DNAH12

Clone Products:		OriGene clones in human, mouse for DNAH12 (see all 7) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): DNAH12 (NM_178504)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DNAH12
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DNAH12

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for DNAH12
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat DNAH12
		QuantiTect SYBR Green Assays in human, mouse, rat DNAH12
		QuantiFast Probe-based Assays in human, mouse, rat DNAH12

Additional mRNA sequence:

AK097746.1 AK126276.1 AK128592.1 U53532.1 U61739.1 Z83802.1

15 DOTS entries:

DT.95182652 DT.101975873 DT.95330640 DT.40281381 DT.97817310 DT.91742161 DT.99962580 DT.100735028

DT.120897565 DT.100020371 DT.120849697 DT.120907258 DT.120910527 DT.120919906 DT.40127276

Selected AceView cDNA sequences (see all 27):

CN478898 BE044379 BM975826 BU677370 BU686274 CD557821 AK097746 AW070294

CB851845 BG209757 BU679845 BU607925 AI005163 AW182837 CB854608 BG199370

BQ045249 AI982970 BX104748 AI682599 BG194753 BG216642 NM_178504 BG221161

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TryGeneCards Plus

DNAH12 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: AATACTGTGT

About this image

DNAH12 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 3) fully expand


Heart (Cardiovascular System)
Cardiac Fibroblasts Myocardium

Gut Tube (Gastrointestinal Tract)
Foregut

Fibroblasts
Cardiac Fibroblasts Myocardium

DNAH12 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

DNAH12 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.201378

Custom PCR Arrays for DNAH12

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for DNAH12
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat DNAH12
		QuantiTect SYBR Green Assays in human, mouse, rat DNAH12
		QuantiFast Probe-based Assays in human, mouse, rat DNAH12

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAH12

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

TryGeneCards Plus

This gene was present in the common ancestor of animals.

Orthologs for DNAH12 gene from Selected species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
mouse (Mus musculus)	Mammalia	Dnahc12⁵ Dnah12¹	dynein, axonemal, heavy chain 12^{1, 5}	86.34(n)¹ 87.3(a)¹	14 (16.09 cM)⁵ 110083¹ XM_006519759.1¹ XP_006519822.1¹ 26693274⁵
chicken (Gallus gallus)	Aves	DNAH12¹	dynein, axonemal, heavy chain 12	73.32(n) 74.08(a)	416004 XM_414346.4 XP_414346.4
tropical clawed frog (Xenopus tropicalis)	Amphibia	dnah12¹	dynein, axonemal, heavy chain 12	69.13(n) 74.77(a)	100216154 XM_004914173.1 XP_004914230.1
zebrafish (Danio rerio)	Actinopterygii	Dr.21649²	Transcribed sequence with weak similarity to protein refNP_061720.1 (H.sapiens) axonemal dynein heavy chain 7 [Homo sapiens] less	77.04(n)	57048927
fruit fly (Drosophila melanogaster)	Insecta	Dhc62B¹	Dynein heavy chain at 62B	50.63(n) 46.75(a)	38226 NM_206236.3 NP_995958.2

ENSEMBL Gene Tree for DNAH12 (if available)
TreeFam Gene Tree for DNAH12 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

TryGeneCards Plus

Paralogs for DNAH12 gene

13 SIMAP similar genes for DNAH12 using alignment to 6 protein entries: DYH12_HUMAN (see all proteins):

Dnahc3 Dnahc11 Dnahc9 DNAH5 Dnchc1 DNAH10

DNAH7 DNAH14 DNAH1 DNAH2 DNAH3 DNAH9

DNAH11

DNAH12 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for DNAH12
PGOHUM00000262865

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

TryGeneCards Plus

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs150498192^1,2	C,F	untested¹	57528437(+)	`ACTGAA/G/TTAATT`	4	N I	mis¹		1		NA	4544
rs4681968^1,2	C,F,H	--	57328867(+)	`GTCACG/TTTTCT`	1	--	int¹		20		NA NS EA WA	1828
rs17791963^1,2	C,F	--	57328906(+)	`TGAGAA/CTATTT`	1	--	int¹		3		NA	142
rs137954847^1,2		--	57329085(+)	`TGGGG-/CAAAAT`	1	--	int¹		0	--	--	--	--
rs60701868^1,2	C,F	--	57329275(+)	`GTTCAA/GTCTGT`	1	--	int¹		4		NA WA	242
rs192623662^1,2	C	--	57329299(+)	`GAAGTG/TGGGGG`	1	--	int¹		0	--	--	--	--
rs182586789^1,2		--	57329541(+)	`GTTGAA/GAGAAT`	1	--	int¹		0	--	--	--	--
rs187725790^1,2		--	57329684(+)	`AGATTC/GCTACT`	1	--	int¹		0	--	--	--	--
rs192498797^1,2		--	57329857(+)	`AATGAC/TTGTCC`	1	--	int¹		0	--	--	--	--
rs185114251^1,2		--	57329884(+)	`AAGGGA/TAACTT`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for DNAH12 (57327727 - 57530071 bp)

Structural Variations
Database of Genomic Variants (DGV) Selected variations for DNAH12 (see all 17): About this table

Variant ID	Type	Subtype	PubMed ID
esv2673906	CNV	Deletion	23128226
esv2470376	CNV	Deletion	19546169
esv2658591	CNV	Deletion	23128226
esv2517054	CNV	Deletion	19546169
esv2725309	CNV	Deletion	23290073
esv1990047	CNV	Deletion	18987734
nsv508931	CNV	Insertion	20534489
nsv3836	CNV	Insertion	18451855
dgv5142n71	CNV	Loss	21882294
nsv460558	CNV	Loss	19166990

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing DNAH12

DNA2.0 Custom Variant and Variant Library Synthesis for DNAH12

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TryGeneCards Plus

OMIM gene information: 603340 OMIM disorders: --

6 diseases for DNAH12:
About MalaCards

primary ciliary dyskinesia situs inversus crohn's disease prostate cancer

malaria prostatitis

1 disease from the University of Copenhagen DISEASES database for DNAH12:

Primary ciliary dyskinesia

DNAH12 for disorders About GeneDecksing

Genetic Association Database (GAD): DNAH12
Human Genome Epidemiology (HuGE) Navigator: DNAH12 (2 documents)

Export disorders for DNAH12 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

TryGeneCards Plus

PubMed articles for DNAH12 gene, integrated from 10 sources (see all 15):
(articles sorted by number of sources associating them with DNAH12)

Utopia: connect your pdf to the dynamic
world of online information

Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles. (PubMed id 8666668)^{1, 2, 3} Vaisberg E.A.... McIntosh J.R. (J. Cell Biol. 1996)
A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. (PubMed id 22219177)^{1, 4} Tao S....Sun J. (Carcinogenesis 2012)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)^{1, 4} Rose J.E....Uhl G.R. (Mol. Med. 2010)
Molecular reclassification of Crohn's disease by cluster analysis of genetic variants. (PubMed id 20886065)^{1, 4} Cleynen I....Vermeire S. (PLoS ONE 2010)
The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)^{1, 2} Muzny D.M....Gibbs R.A. (Nature 2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
Multiple mouse chromosomal loci for dynein-based motility. (PubMed id 8812413)^{1, 3} Vaughan K.T....Vallee R.B. (Genomics 1996)
Genetic risk profiling and prediction of disease course in Crohn's disease patients. (PubMed id 19422935)¹ Henckaerts L....Vermeire S. (Clin. Gastroenterol. Hepatol. 2009)
Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort. (PubMed id 19174780)¹ Weersma R.K.... Vermeire S. (Am. J. Gastroenterol. 2009)
Dynein is required for receptor sorting and the morphogenesis of early endosomes. (PubMed id 17173037)¹ Driskell O.J....Woodman P.G. (Nat. Cell Biol. 2007)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

TryGeneCards Plus

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

TryGeneCards Plus

Entrez Gene: 201625	HGNC: 2943	AceView: FLJ40427	Ensembl:ENSG00000174844	euGenes: HUgn201625
ECgene: DNAH12	H-InvDB: DNAH12

(According to HUGE)
About This Section

TryGeneCards Plus

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

TryGeneCards Plus

Name	Description
PharmGKB entry for DNAH12	Pharmacogenomics, SNPs, Pathways

Intellectual Property for DNAH12 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

TryGeneCards Plus

Patent Information for DNAH12 gene:
Search GeneIP for patents involving DNAH12

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

TryGeneCards Plus


	EMD Millipore genomic analysis products

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Enzyme Activity Assays/Reagents
	Browse ELISpot/FluoroSpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Luminex Assays
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Recombinant/Natural Proteins		Browse Stem Cell Products
	Browse cDNA Clones		Browse Proteome Profiler Antibody Arrays

	Browse OriGene Antibodies		OriGene RNAi products in human, mouse, rat for DNAH12
	Browse OriGene qPCR primer pairs and template standards		Browse OriGene Protein Over-expression Lysates
	OriGene Custom Mass Spec		OriGene clones in human, mouse for DNAH12
	OriGene qSTAR qPCR primer pairs in human, mouse for DNAH12		Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
	Browse OriGene ORF clones		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for DNAH12		OriGene Custom Protein Services for DNAH12

	Block miRNA regulation of human, mouse, rat DNAH12 using miScript Target Protectors		SeqTarget long-range PCR primers for resequencing DNAH12
	DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DNAH12		Predesigned siRNA for gene silencing in human, mouse, rat DNAH12
	QuantiFast Probe-based Assays in human, mouse, rat DNAH12		QuantiTect SYBR Green Assays in human, mouse, rat DNAH12
	Custom PCR Arrays for DNAH12		Search Chromatin IP Primers for DNAH12
	Pre-validated RT² qPCR Primer Assay in human, mouse, rat DNAH12		Search GeneGlobe Interaction Network for DNAH12
	Regulatory tfbs in DNAH12 promoter

	GenScript Custom Purified and Recombinant Proteins Services for DNAH12		GenScript cDNA clones with any tag delivered in your preferred vector for DNAH12
	GenScript Custom Assay Services for DNAH12		GenScript Custom overexpressing Cell Line Services for DNAH12
	CloneReady with Over 120,000 Genes		Gene Synthesis: Any Gene in Any Vector
	Vector-based siRNA and miRNA, Ready for Transfection		Gene Mutant Library, Variants up to 10^11
	Plasmid Preparation		Custom Peptide Services

Search for Antibodies & Assays

Search Tocris compounds for DNAH12 (DYH12)

	Browse Sino Biological Proteins
	Browse Sino Biological Cell Lysates
	Browse Sino Biological cDNA Clones
	4000+ Proteins
	Search Sino Biological for antibodies, proteins & pathways
	Protein Production Services
	Transfection Reagents
	Protein A/G/L resins
	Isotyping reagents

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	DNAH12 antibodies

	Antibodies for DNAH12
	See all of Abcam's Antibodies, Kits and Proteins for DNAH12
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

	Proteins for DNAH12
	Antibodies for DNAH12
	ELISAs for DNAH12
	CLIAs for DNAH12

Browse ESI BIO Cell Lines and PureStem Progenitors for DNAH12

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAH12

	SwitchGear 3'UTR luciferase reporter plasmids for DNAH12
	SwitchGear Promoter luciferase reporter plasmids for DNAH12

Search ThermoFisher Antibodies for DNAH12

Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DNAH12

	inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DNAH12
	inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DNAH12

LSBio Antibodies in human, mouse, rat for DNAH12

Customized transgenic rodents for:

	Humanization
	Biomarker expression
	Off-target effect monitoring
	Translational medicine
	Tissue-specific gene expresssion
	Time-controlled gene expresssion

Browse compounds at ApexBio

GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

View Random Gene

Category			(GIFtS: )
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes DNAH12 gene at Home site.

Version: 3.12.142 28 July 2014
hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4

GeneCards Plus

Advanced Search

Export list of displayed genes

DNAH12 Gene

Dynein, Axonemal, Heavy Chain 12

Aliases
for DNAH12 gene

Summaries
for DNAH12 gene

Genomic Views
for DNAH12 gene

Proteins
for DNAH12 gene

DNAH12 Human Recombinant Protein Products:

DNAH12 Antibody Products:

DNAH12 Assay Products:

Domains /
Families
for DNAH12 gene

Function
for DNAH12 gene

Localization
for DNAH12 gene

Pathways & Interactions
for DNAH12 gene

Drugs & Compounds
for DNAH12 gene

Transcripts
for DNAH12 gene

Expression
for DNAH12 gene

Orthologs
for DNAH12 gene

Paralogs
for DNAH12 gene

Genomic Variants
for DNAH12 gene

Disorders / Diseases
for DNAH12 gene

Publications
for DNAH12 gene

External Searches for DNAH12 gene

Genome Databases showing DNAH12 gene

Other Databases showing DNAH12 gene

Specialized Databases showing DNAH12 gene

Intellectual Property
for DNAH12 gene

Products
for DNAH12 gene

View Random Gene

DNAH12 (Gene Symbol)
Dynein, Axonemal, Heavy Chain 12
DNAH12L
DNAH7L
DNHD2
DNAHC3
HL19
Dynein, Axonemal, Heavy Polypeptide 12
Axonemal Beta Dynein Heavy Chain 12
Ciliary Dynein Heavy Chain 12
Dynein Heavy Chain Domain-Containing Protein 2
DHC3
DLP12
HDHC3
Dynein Heavy Chain Domain 2
Dynein Heavy Domain 2
Dynein, Axonemal, Heavy Chain 12-Like
Dynein, Axonemal, Heavy Chain 7-Like
DNAHC12
HL-19
Axonemal Dynein Heavy Chain Isotype3
Dynein Heavy Chain 12, Axonemal
Dynein, Heavy Chain-5
Axonemal Dynein Heavy Chain 12-Like Protein
Axonemal Dynein Heavy Chain 7-Like Protein
Dynein Heavy Chain 7-Like, Axonemal

GeneCards Plus

Advanced Search

Export list of displayed genes

DNAH12 Gene

Dynein, Axonemal, Heavy Chain 12

Aliasesfor DNAH12 gene

Summariesfor DNAH12 gene

Genomic Viewsfor DNAH12 gene

Proteinsfor DNAH12 gene

DNAH12 Human Recombinant Protein Products:

DNAH12 Antibody Products:

DNAH12 Assay Products:

Domains /Familiesfor DNAH12 gene

Functionfor DNAH12 gene

Localizationfor DNAH12 gene

Pathways & Interactionsfor DNAH12 gene

Drugs & Compoundsfor DNAH12 gene

Transcriptsfor DNAH12 gene

Expression for DNAH12 gene

Orthologsfor DNAH12 gene

Paralogsfor DNAH12 gene

Genomic Variantsfor DNAH12 gene

Disorders / Diseasesfor DNAH12 gene

Publicationsfor DNAH12 gene

External Searches for DNAH12 gene

Genome Databases showing DNAH12 gene

Other Databases showing DNAH12 gene

Specialized Databases showing DNAH12 gene

Intellectual Propertyfor DNAH12 gene

Productsfor DNAH12 gene

View Random Gene

Aliases
for DNAH12 gene

Summaries
for DNAH12 gene

Genomic Views
for DNAH12 gene

Proteins
for DNAH12 gene

Domains /
Families
for DNAH12 gene

Function
for DNAH12 gene

Localization
for DNAH12 gene

Pathways & Interactions
for DNAH12 gene

Drugs & Compounds
for DNAH12 gene

Transcripts
for DNAH12 gene

Expression
for DNAH12 gene

Orthologs
for DNAH12 gene

Paralogs
for DNAH12 gene

Genomic Variants
for DNAH12 gene

Disorders / Diseases
for DNAH12 gene

Publications
for DNAH12 gene

Intellectual Property
for DNAH12 gene

Products
for DNAH12 gene