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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	283417
Gene name	Dpy-19 like 2
Gene symbol	DPY19L2
Synonyms (NCBI Gene)	SPATA34SPGF9
Chromosome	12
Chromosome location	12q14.2
Summary	The protein encoded by this gene belongs to the dpy-19 family. It is highly expressed in testis, and is required for sperm head elongation and acrosome formation during spermatogenesis. Mutations in this gene are associated with an infertility disorder, s

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs147579680	C>T	Pathogenic	Missense variant, genic upstream transcript variant, upstream transcript variant, non coding transcript variant, intron variant, coding sequence variant
rs587777205	T>A,G	Pathogenic	Coding sequence variant, intron variant, missense variant, non coding transcript variant, genic downstream transcript variant, stop gained
rs587777206	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, missense variant, non coding transcript variant, upstream transcript variant
rs751879424	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs868256749	C>T	Pathogenic	Splice donor variant

Show/Hide all (22)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017243	hsa-miR-335-5p	Microarray	18185580
MIRT944523	hsa-miR-22	CLIP-seq
MIRT944524	hsa-miR-3158-3p	CLIP-seq
MIRT944525	hsa-miR-3616-3p	CLIP-seq
MIRT944526	hsa-miR-3618	CLIP-seq
MIRT944527	hsa-miR-4421	CLIP-seq
MIRT944528	hsa-miR-4477a	CLIP-seq
MIRT944529	hsa-miR-448	CLIP-seq
MIRT944530	hsa-miR-4721	CLIP-seq
MIRT944531	hsa-miR-4795-3p	CLIP-seq
MIRT944532	hsa-miR-548c-3p	CLIP-seq
MIRT944533	hsa-miR-656	CLIP-seq
MIRT944534	hsa-miR-934	CLIP-seq
MIRT1979658	hsa-miR-582-3p	CLIP-seq
MIRT2214796	hsa-miR-203	CLIP-seq
MIRT2214797	hsa-miR-548ac	CLIP-seq
MIRT2214798	hsa-miR-548ae	CLIP-seq
MIRT2214799	hsa-miR-548aj	CLIP-seq
MIRT2214800	hsa-miR-548am	CLIP-seq
MIRT2214801	hsa-miR-548d-3p	CLIP-seq
MIRT2214802	hsa-miR-548x	CLIP-seq
MIRT2214803	hsa-miR-548z	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000030	Function	Mannosyltransferase activity	IBA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IEA
GO:0005637	Component	Nuclear inner membrane	IBA
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005637	Component	Nuclear inner membrane	ISS
GO:0007283	Process	Spermatogenesis	IEA
GO:0007286	Process	Spermatid development	IBA
GO:0007286	Process	Spermatid development	IEA
GO:0007286	Process	Spermatid development	IMP	21397063, 21397064
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0030154	Process	Cell differentiation	IEA

MIM	HGNC	e!Ensembl
613893	19414	ENSG00000177990

Q6NUT2

Protein name

Probable C-mannosyltransferase DPY19L2 (EC 2.4.1.-) (Dpy-19-like protein 2) (Protein dpy-19 homolog 2)

Protein function

Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins. ; Required during spermatogenesis for sperm head elongation and acrosome formation (PubMed:21397063,

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10034	Dpy19	114 → 757	Q-cell neuroblast polarisation	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed with high expression in testis. Not detectable in ejaculated sperm (at protein level). {ECO:0000269|PubMed:16526957, ECO:0000269|PubMed:21397064}.

Sequence

MRKQGVSSKRLQSSGRSQSKGRRGASLAREPEVEEEMEKSALGGGKLPRGSWRSSPGRIQ
SLKERKGLELEVVAKTFLLGPFQFVRNSLAQLREKVQELQARRFSSRTTLGIAVFVAILH
WLHLVTLFENDRHFSHLSSLEREMTFRTEMGLYYSYFKTIIEAPSFLEGLWMIMNDRLTE
YPLIINAIKRFHLYPEVIIASWYCTFMGIMNLFGLETKTCWNVTRIEPLNEVQSCEGLGD
PACFYVGVIFILNGLMMGLFFMYGAYLSGTQLGGLITVLCFFFNHGEATRVMWTPPLRES
FSYPFLVLQMCILTLILRTSSNDRRPFIALCLSNVAFMLPWQFAQFILFTQIASLFPMYV
VGYIEPSKFQKIIYMNMISVTLSFILMFGNSMYLSSYYSSSLLMTWAIILKRNEIQKLGV
SKLNFWLIQGSAWWCGTIILKFLTSKILGVSDHIRLSDLIAARILRYTDFDTLIYTCAPE
FDFMEKATPLRYTKTLLLPVVMVITCFIFKKTVRDISYVLATNIYLRKQLLEHSELAFHT
LQLLVFTALAILIMRLKMFLTPHMCVMASLICSRQLFGWLFRRVRFEKVIFGILTVMSIQ
GYANLRNQWSIIGEFNNLPQEELLQWIKYSTTSDAVFAGAMPTMASIKLSTLHPIVNHPH
YEDADLRARTKIVYSTYSRKSAKEVRDKLLELHVNYYVLEEAWCVVRTKPGCSMLEIWDV
EDPSNAANPPLCSVLLEDARPYFTTVFQNSVYRVLKVN

Sequence length

758

Interactions

View interactions

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 Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spermatogenic failure 9	Pathogenic	rs147579680, rs587777205, rs751879424, rs587777206, rs868256749, rs752764341	RCV000087741 RCV000087742 RCV000087743 RCV000087745 RCV000087746 RCV002221170 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs147579680	RCV005887815	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

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.
EARLY-ONSET ALZHEIMERS DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY DUE TO GLOBOZOOSPERMIA	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY DUE TO ROUND-HEADED SPERMATOZOA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROLANDIC EPILEPSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (12)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	31671693	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	33877510	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	21397064, 30333325	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	30333325	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Male infertility due to globozoospermia	Male infertility	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	26730743	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37143720	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SPERMATOGENIC FAILURE 9	Spermatogenic Failure	BEFREE	30912172, 31424156		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPERMATOGENIC FAILURE 9	Spermatogenic Failure	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPERMATOGENIC FAILURE 9	Spermatogenic Failure	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Teratozoospermia	Teratozoospermia	Pubtator	21397063, 21397064, 23555282, 25219909, 25755131, 30333325, 31985809, 35610156	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Teratozoospermia	Teratozoospermia	BEFREE	22653751, 25219909, 27779748		★★★★★ ★☆☆☆☆ Found in Text Mining only

DPY19L2 (dpy-19 like 2)