Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	201625
Gene name	Dynein axonemal heavy chain 12
Gene symbol	DNAH12
Synonyms (NCBI Gene)	DHC3DLP12DLP3DNAH12LDNAH7LDNAHC12DNAHC3DNHD2HDHC3HL-19HL19SPGF100
Chromosome	3
Chromosome location	3p14.3

Show/Hide all (32)

miRTarBase ID	miRNA	Experiments
MIRT939587	hsa-miR-4270	CLIP-seq
MIRT939588	hsa-miR-4441	CLIP-seq
MIRT939589	hsa-miR-548aa	CLIP-seq
MIRT1547992	hsa-miR-128	CLIP-seq
MIRT1547993	hsa-miR-140-3p	CLIP-seq
MIRT939589	hsa-miR-548aa	CLIP-seq
MIRT1547992	hsa-miR-128	CLIP-seq
MIRT1547993	hsa-miR-140-3p	CLIP-seq
MIRT1977912	hsa-miR-216a	CLIP-seq
MIRT1977913	hsa-miR-3190	CLIP-seq
MIRT939587	hsa-miR-4270	CLIP-seq
MIRT939588	hsa-miR-4441	CLIP-seq
MIRT1977914	hsa-miR-4491	CLIP-seq
MIRT1977915	hsa-miR-4511	CLIP-seq
MIRT1977916	hsa-miR-4657	CLIP-seq
MIRT1977917	hsa-miR-485-3p	CLIP-seq
MIRT939589	hsa-miR-548aa	CLIP-seq
MIRT1977918	hsa-miR-7	CLIP-seq
MIRT1977919	hsa-miR-875-3p	CLIP-seq
MIRT2213310	hsa-miR-122	CLIP-seq
MIRT2213311	hsa-miR-3198	CLIP-seq
MIRT2213312	hsa-miR-3622b-5p	CLIP-seq
MIRT2213313	hsa-miR-3680	CLIP-seq
MIRT2213314	hsa-miR-4309	CLIP-seq
MIRT2213315	hsa-miR-4418	CLIP-seq
MIRT2213316	hsa-miR-509-3-5p	CLIP-seq
MIRT2213317	hsa-miR-509-5p	CLIP-seq
MIRT2213318	hsa-miR-668	CLIP-seq
MIRT2517047	hsa-miR-3194-3p	CLIP-seq
MIRT2517048	hsa-miR-3672	CLIP-seq
MIRT2517047	hsa-miR-3194-3p	CLIP-seq
MIRT2517048	hsa-miR-3672	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence
GO:0000166	Function	Nucleotide binding	IEA
GO:0003341	Process	Cilium movement	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005858	Component	Axonemal dynein complex	IBA
GO:0005858	Component	Axonemal dynein complex	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005929	Component	Cilium	IEA
GO:0007018	Process	Microtubule-based movement	IEA
GO:0008569	Function	Minus-end-directed microtubule motor activity	IEA
GO:0030286	Component	Dynein complex	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045505	Function	Dynein intermediate chain binding	IEA
GO:0051959	Function	Dynein light intermediate chain binding	IEA
GO:0070286	Process	Axonemal dynein complex assembly	IEA

MIM	HGNC	e!Ensembl
603340	2943	ENSG00000174844

Q6ZR08

Protein name

Dynein axonemal heavy chain 12 (Axonemal beta dynein heavy chain 12) (Axonemal dynein heavy chain 12-like protein) (Axonemal dynein heavy chain 7-like protein) (Ciliary dynein heavy chain 12) (Dynein axonemal heavy chain 7-like) (Dynein heavy chain domain

Protein 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 s

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08393	DHC_N2	676 → 1087	Dynein heavy chain, N-terminal region 2	Family
PF12774	AAA_6	1215 → 1541	Hydrolytic ATP binding site of dynein motor region	Domain
PF17852	Dynein_AAA_lid	1708 → 1847	Dynein heavy chain AAA lid domain	Domain
PF12775	AAA_7	1854 → 2034		Domain
PF17857	AAA_lid_1	2067 → 2164	AAA+ lid domain	Domain
PF12780	AAA_8	2227 → 2309	P-loop containing dynein motor region D4	Domain
PF03028	Dynein_heavy	2491 → 2606	Dynein heavy chain region D6 P-loop domain	Domain
PF18198	AAA_lid_11	2620 → 2781	Dynein heavy chain AAA lid domain	Domain
PF18199	Dynein_C	2787 → 3088	Dynein heavy chain C-terminal domain	Domain

Sequence

MSDANKAAIAAEKEALNLKLPPIVHLPENIGVDTPTQSKLLKYRRSKEQQQKINQLVIDG
AKRNLDRTLGKRTPLLPPPDYPQTMTSEMKKKGFNYIYMKQCVESSPLVPIQQEWLDHML
RLIPESLKEGKEREELLESLINEVSSDFENSMKRYLVQSVLVKPPVKSLEDEGGPLPESP
VGLDYSNPWHSSYVQARNQIFSNLHIIHPTMKMLLDLGYTTFADTVLLDFTGIRAKGPID
CESLKTDLSIQTRNAEEKIMNTWYPKVINLFTKKEALEGVKPEKLDAFYSCVSTLMSNQL
KDLLRRTVEGFVKLFDPKDQQRLPIFKIELTFDDDKMEFYPTFQDLEDNVLSLVERIAEA
LQNVQTIPSWLSGTSTPVNLDTELPEHVLHWAVDTLKAAVHRNLEGARKHYETYVEKYNW
LLDGTAVENIETFQTEDHTFDEYTEFIEKFLSLASEIMLLPQWIHYTMVRLDCEDLKTGL
TNKAKAFANILLNDIASKYRKENECICSEFEAIKEHALKVPETTEEMMDLISYVEKARTV
GIEELILRIQESKRQMSYFLDVFLFPQEDLALNATVLMWPRKINPIFDENDELIENAKHK
KENELMAKREKLILEIEKESRRMEEFTEFAELERMQQYVTDVRQLQKRIQESEEAVQFIN
KEEELFKWELTKYPELDKLKVNIEPYQKFFNFVLKWQRSEKRWMDGGFLDLNGESMEADV
EEFSREIFKTLKFFQTKLKKELQEKRKAARKRSLEEEKIEEEPKDNATITMCRMRARHWK
QISEIVGYDLTPDSGTTLRKVLKLNLTPYLEQFEVISAGASKEFSLEKAMNTMIGTWEDI
AFHISLYRDTGVCILSSVDEIQAILDDQIIKTQTMRGSPFIKPFEHEIKAWEDRLIRIQE
TIDEWLKVQAQWLYLEPIFCSEDIMQQMPEEGRQFQTVDRHWRDIMKFCAKDPKVLAATS
LTGLLEKLQNCNELLEKIMKGLNAYLEKKRLFFPRFFFLSNDEMLEILSETKDPLRVQPH
LKKCFEGIAKLEFLPNLDIKAMYSSEGERVELIALISTSAARGAVEKWLIQVEDLMLRSV
HDVIAAARLAYPESARRDWVREWPGQVVLCISQMFWTSETQEVISGGTEGLKKYYKELQN
QLNEIVELVRGKLSKQTRTTLGALVTIDVHARDVVMDMIKMGVSHDTDFLWLAQLRYYWE
NENARVRIINCNVKYAYEYLGNSPRLVITPLTDRCYRTLIGAFYLNLGGAPEGPAGTGKT
ETTKDLAKALAVQCVVFNCSDGLDYLAMGKFFKGLASSGAWACFDEFNRIELEVLSVVAQ
QILCIQRAIQQKLVVFVFEGTELKLNPNCFVAITMNPGYAGRSELPDNLKVLFRTVAMMV
PNYALIAEISLYSYGFLNARPLSVKIVMTYRLCSEQLSSQFHYDYGMRAVKAVLVAAGNL
KLKYPNENEDILLLRSIKDVNEPKFLSHDIPLFNGITSDLFPGIKLPEADYHEFLECAHE
ACNVHNLQPVKFFLEKIIQTYEMMIVRHGFMLVGEPFAAKTKVLHVLADTLTLMNEHGYG
EEEKVIYRTVNPKSITMGQLFGQFDPVSHEWTDGIVANTFREFALSETPDRKWVVFDGPI
DTLWIESMNTVLDDNKKLCLMSGEIIQMSPQMSLIFETMDLSQASPATVSRCGMIYLEPS
QLGWEPLVSSWLNSLKGPLCEPEYQALLRGLFAWLIPPSLNQRVELFQLNYLYTTIVSKI
LKILITFRISNYFKYVPLKTQCTFIKFFLHQQACFIFSLIWSIGGSCDTDGRRVFDTFIR
LIILGKDDENPVPDSVGKWECPFDEKGLVYDYMYELKNKGRWVHWNELIKNTNLGDKQIK
IQDIIVPTMDTIRYTFLMDLSITYAKPLLFVGPTGTGKSVYVKDKLMNHLEKDQYFPFYI
NLSARTSANQVQNIIMARLDKRRKGVFGPPMGKKCIIFIDDMNMPALEKYGAQPPIELLR
QFFDCGHWYDLKDTSKITLVDIELIAAMGPPGGGRNPVTPRCIRHFNICSINSFSDETMV
RIFSSIVAFYLRTHEFPPEYFVIGNQIVNGTMEIYKQSVENLLPTPTKSHYTFNLRDFSR
VIRGCLLIERDAVANKHTMIRLFVHEVLRVFYDRLINDDDRRWLFQLTKTVIKDHFKESF
HSIFSHLRKQNAPVTEEDLRNLMFGDYMNPDLEGDDRVYIEIPNIHHFSDVVDQCLDEYN
QTHKTRMNLVIFRYVLEHLSRICRVLKQSGGNALLVGLGGSGRQSLTRLATSMAKMHIFQ
PEISKSYGMNEWREDMKSFIAVPVTNRIVDNKSKILEKRLRYLNDHFTYNLYCNICRSLF
EKDKLLFSFLLCANLLLARKEIEYQELMFLLTGGVSLKSAEKNPDPTWLQDKSWEEICRA
SEFPAFRGLRQHFCEHIYEWREIYDSKEPHNAKFPAPMDKNLNELQKIIILRCLRPDKIT
PAITNYVTDKLGKKFVEPPPFDLTKSYLDSNCTIPLIFVLSPGADPMASLLKFANDKSMS
GNKFQAISLGQGQGPIAAKMIKAAIEEGTWVCLQNCHLAVSWMPMLEKICEDFTSETCNS
SFRLWLTSYPSSKFPVTILQNGVKMTNEPPTGLRLNLLQSYLTDPVSDPEFFKGCRGKEL
AWEKLLFGVCFFHALVQERKKFGPLGWNIPYGFNESDLRISIRQLQLFINEYDTIPFEAI
SYLTGECNYGGRVTDDWDRRLLLTMLADFYNLYIVENPHYKFSPSGNYFAPPKGTYEDYI
EFIKKLPFTQHPEIFGLHENVDISKDLQQTKTLFESLLLTQGGSKQTGASGSTDQILLEI
TKDILNKLPSDFDIEMALRKYPVRYEESMNTVLVQEMERFNNLIITIRNTLRDLEKAIKG
VVVMDSALEALSGSLLVGKVPEIWAKRSYPSLKPLGSYITDFLARLNFLQDWYNSGKPCV
FWLSGFFFTQAFLTGAMQNYARKYTTPIDLLGYEFEVIPSDTSDTSPEDGVYIHGLYLDG
ARWDRESGLLAEQYPKLLFDLMPIIWIKPTQKSRIIKSDAYVCPLYKTSERKGTLSTTGH
STNFVIAMLLKTDQPTRHWIKRGVALLCQLDD

Sequence length

3092

Interactions

View interactions

	KEGG
	Motor proteins Amyotrophic lateral sclerosis Huntington disease Pathways of neurodegeneration - multiple diseases

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPERMATOGENIC FAILURE	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (2)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Infertility Male	Male infertility	Pubtator	39267058	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25344116	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

DNAH12 (dynein axonemal heavy chain 12)