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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	283417
Gene name Gene Name - the full gene name approved by the HGNC.	Dpy-19 like 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DPY19L2
Synonyms (NCBI Gene) Gene synonyms aliases	SPATA34, SPGF9
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q14.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Spermatogenic Failure	spermatogenic failure 9	rs587777205, rs751879424, rs587777206, rs868256749, rs147579680	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Cleft Lip With Or Without Cleft Palate	Cleft lip with or without cleft palate	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Male infertility	male infertility due to globozoospermia	N/A	N/A	GenCC

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Androgen Insensitivity Syndrome	Inhibit	31671693
Blindness	Associate	33877510
Infertility	Associate	21397064, 30333325
Infertility Male	Associate	30333325
Megalencephaly	Associate	25755131
Nasopharyngeal Carcinoma	Associate	26730743
Prostatic Neoplasms	Associate	37143720
Teratozoospermia	Associate	21397063, 21397064, 23555282, 25219909, 25755131, 30333325, 31985809, 35610156

DPY19L2 (dpy-19 like 2)