DNAH12

dynein axonemal heavy chain 12, the group of Dyneins, axonemal inner arm I1/f complex subunits

Basic information

Region (hg38): 3:57293699-57544344

Previous symbols: [ "DNHD2", "DNAH12L", "DNAH7L" ]

Links

ENSG00000174844 ∙ NCBI:201625 ∙ OMIM:603340 ∙ HGNC:2943 ∙ Uniprot:Q6ZR08 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• oligoasthenoteratozoospermia (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DNAH12 gene.

• not_specified (349 variants)
• not_provided (5 variants)
• SPERMATOGENIC_FAILURE_100 (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAH12 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001366028.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3		3
missense	1		341	7	1	350
nonsense	1					1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	2	0	341	10	1

Highest pathogenic variant AF is 0.0000122806

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAH12	protein_coding	protein_coding	ENST00000311202	11	202345

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.09e-10	0.489	125675	0	70	125745	0.000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.618	200	226	0.884	0.0000105	2993
Missense in Polyphen		31	37.033	0.8371		536
Synonymous	0.642	73	80.3	0.909	0.00000410	826
Loss of Function	1.12	17	22.8	0.747	0.00000106	318

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00100	0.000993
Ashkenazi Jewish	0.00	0.00
East Asian	0.000725	0.000707
Finnish	0.000474	0.000462
European (Non-Finnish)	0.000156	0.000149
Middle Eastern	0.000725	0.000707
South Asian	0.000392	0.000392
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: 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). {ECO:0000250}.
• Pathway: Huntington,s disease - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.0998

Intolerance Scores

• loftool: 0.956
• rvis_EVS: 0.84
• rvis_percentile_EVS: 88.36

Haploinsufficiency Scores

• pHI: 0.409
• hipred: N
• hipred_score: 0.203

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.249

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Dnah12

Gene ontology

• Biological process: microtubule-based movement
• Cellular component: cytoplasm;microtubule;cilium;dynein complex
• Molecular function: microtubule motor activity;ATP binding