Seroatlas · Human Serome Atlas

DPY19L2

Probable C-mannosyltransferase DPY19L2

Also known as: D19L2_HUMAN, FLJ32949, SPATA34

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q6NUT2
Gene: DPY19L2
Ensembl: ENSG00000177990
Chromosome: 12
Canonical length: 758 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nucleoplasm,Mitochondria

OverviewNCBI 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, spermatogenic failure type 9 (SPGF9). [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

758 residues, UniProt reviewed canonical sequence.

>Q6NUT2|DPY19L2
     1  MRKQGVSSKR LQSSGRSQSK GRRGASLARE PEVEEEMEKS ALGGGKLPRG SWRSSPGRIQ
    61  SLKERKGLEL EVVAKTFLLG PFQFVRNSLA QLREKVQELQ ARRFSSRTTL GIAVFVAILH
   121  WLHLVTLFEN DRHFSHLSSL EREMTFRTEM GLYYSYFKTI IEAPSFLEGL WMIMNDRLTE
   181  YPLIINAIKR FHLYPEVIIA SWYCTFMGIM NLFGLETKTC WNVTRIEPLN EVQSCEGLGD
   241  PACFYVGVIF ILNGLMMGLF FMYGAYLSGT QLGGLITVLC FFFNHGEATR VMWTPPLRES
   301  FSYPFLVLQM CILTLILRTS SNDRRPFIAL CLSNVAFMLP WQFAQFILFT QIASLFPMYV
   361  VGYIEPSKFQ KIIYMNMISV TLSFILMFGN SMYLSSYYSS SLLMTWAIIL KRNEIQKLGV
   421  SKLNFWLIQG SAWWCGTIIL KFLTSKILGV SDHIRLSDLI AARILRYTDF DTLIYTCAPE
   481  FDFMEKATPL RYTKTLLLPV VMVITCFIFK KTVRDISYVL ATNIYLRKQL LEHSELAFHT
   541  LQLLVFTALA ILIMRLKMFL TPHMCVMASL ICSRQLFGWL FRRVRFEKVI FGILTVMSIQ
   601  GYANLRNQWS IIGEFNNLPQ EELLQWIKYS TTSDAVFAGA MPTMASIKLS TLHPIVNHPH
   661  YEDADLRART KIVYSTYSRK SAKEVRDKLL ELHVNYYVLE EAWCVVRTKP GCSMLEIWDV
   721  EDPSNAANPP LCSVLLEDAR PYFTTVFQNS VYRVLKVN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DPY19L2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 9
Mean surface accessibility (rSASA): 0.28
Highest tissue expression: 78 nTPM

Expression across tissuesHPA

Tissue

testis: 78 nTPM
retina: 26 nTPM
heart muscle: 22 nTPM
blood vessel: 20 nTPM
thyroid gland: 13 nTPM
kidney: 12 nTPM

Single-cell type

cardiomyocytes: 520 nCPM
renal connecting tubule cells: 456 nCPM
renal collecting duct intercalated cells: 335 nCPM
distal convoluted tubule cells: 234 nCPM
pituitary stem cells: 193 nCPM
ependymal cells: 177 nCPM

Immune cell

MAIT T-cell: 1 nTPM
naive CD8 T-cell: 0.8 nTPM
naive CD4 T-cell: 0.7 nTPM
gdT-cell: 0.5 nTPM
memory CD8 T-cell: 0.3 nTPM
memory CD4 T-cell: 0.2 nTPM

Brain region

choroid plexus: 54 nTPM
cerebral cortex: 47 nTPM
cerebellum: 42 nTPM
white matter: 36 nTPM
basal ganglia: 33 nTPM
hypothalamus: 30 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DPY19L2.

Disease | AllUniProt

Conditions DPY19L2 is implicated in, by any mechanism.

Spermatogenic failure 9 (SPGF9) MIM:613958

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 142 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Spermatogenic failure 9
Thyroid cancer, nonmedullary, 1
See cases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.91
gnomAD pLI: 0
gnomAD missense Z: 0.71
DepMap mean gene effect: -0.2
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

spermatid development

Molecular functions

mannosyltransferase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DPY19L2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

FAM209
FAM209A

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DPY19L2 as an antibody target. Whether an autoantibody or antibody against DPY19L2 could matter depends on whether native DPY19L2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DPY19L2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label DPY19L2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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