CNDP2 Gene (Protein Coding)

Carnosine Dipeptidase 2

GC18P074495
GIFtS:
44
CNDP2, also known as tissue carnosinase and peptidase A (EC 3.4.13.18), is a nonspecific dipeptidase rather than a selective carnosinase (Teufel et al., 2003 [PubMed 12473676]).[supplied by OMIM, Mar 2008] See more...

Aliases for CNDP2 Gene

Aliases for CNDP2 Gene

  • Carnosine Dipeptidase 2 2 3 5
  • Carnosine Dipeptidase II 2 3 4
  • Peptidase A 2 3 4
  • CNDP Dipeptidase 2 (Metallopeptidase M20 Family) 2 3
  • Glutamate Carboxypeptidase-Like Protein 1 3 4
  • Cytosolic Non-Specific Dipeptidase 3 4
  • Epididymis Secretory Protein Li 13 3 4
  • Cytosolic Nonspecific Dipeptidase 2 3
  • Carnosinase-2 2 3
  • HEL-S-13 3 4
  • PEPA 3 4
  • CPGL 3 4
  • CN2 3 4
  • CNDP Dipeptidase 2 4
  • EC 3.4.13.18 4
  • HsT2298 3

External Ids for CNDP2 Gene

Previous HGNC Symbols for CNDP2 Gene

  • PEPA

Previous GeneCards Identifiers for CNDP2 Gene

  • GC18P070313
  • GC18P070314
  • GC18P072163
  • GC18P068895

Summaries for CNDP2 Gene

Entrez Gene Summary for CNDP2 Gene

  • CNDP2, also known as tissue carnosinase and peptidase A (EC 3.4.13.18), is a nonspecific dipeptidase rather than a selective carnosinase (Teufel et al., 2003 [PubMed 12473676]).[supplied by OMIM, Mar 2008]

GeneCards Summary for CNDP2 Gene

CNDP2 (Carnosine Dipeptidase 2) is a Protein Coding gene. Diseases associated with CNDP2 include Penile Cancer and Polyarticular Juvenile Idiopathic Arthritis. Among its related pathways are Glutathione metabolism and Arginine and proline metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity and metallopeptidase activity. An important paralog of this gene is CNDP1.

UniProtKB/Swiss-Prot Summary for CNDP2 Gene

  • Hydrolyzes a variety of dipeptides including L-carnosine but has a strong preference for Cys-Gly (PubMed:19346245). Acts as a functional tumor suppressor in gastric cancer via activation of the mitogen-activated protein kinase (MAPK) pathway. An elevated level of CNDP2 activates the p38 and JNK MAPK pathways to induce cell apoptosis, and a lower level of CNDP2 activates the ERK MAPK pathway to promote cell proliferation (PubMed:24395568). Isoform 2 may play a role as tumor suppressor in hepatocellular carcinoma (HCC) cells (PubMed:17121880). Catalyzes the production of N-lactoyl-amino acids from lactate and amino acids by reverse proteolysis (PubMed:25964343).

Additional gene information for CNDP2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CNDP2 Gene

Genomics for CNDP2 Gene

GeneHancer (GH) Regulatory Elements for CNDP2 Gene

Promoters and enhancers for CNDP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH18J074495 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 522.2 +3.0 3000 7.6 ZBTB40 EP300 SIN3A NRF1 POLR2G USF1 SP1 GTF2E2 PHF8 JUND CNDP2 ZNF407 CNDP1 FAUP1 ENSG00000276934
GH18J074494 Promoter/Enhancer 0.8 Ensembl dbSUPER 500.7 -1.1 -1115 0.2 ZNF316 MAFF MAFK EMSY CNDP2 CNDP1 CYB5A ENSG00000287689
GH18J074493 Enhancer 0.7 ENCODE dbSUPER 500.7 -2.0 -1995 0.2 CTCF REST RAD21 SMC3 ZNF654 FOXP2 KDM3A ZNF580 MIXL1 PPARG CNDP2 CNDP1 CYB5A ENSG00000287689
GH18J074480 Promoter/Enhancer 1.4 EPDnew FANTOM5 ENCODE 21.4 -15.2 -15240 2.4 POLR2G HES1 TOE1 CTBP1 SKI HDAC3 NR2F2 NCOR1 KLF9 CREB1 DIPK1C CNDP2 ENSG00000287689
GH18J074505 Enhancer 0.9 Ensembl ENCODE dbSUPER 15.9 +12.0 12028 4.4 ZNF316 MAFF MAFK RBM22 TAL1 TCF12 MAFG GATA2 GATA1 ARID1B CNDP2 CNDP1 ENSG00000276934 HSALNG0122447
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CNDP2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CNDP2

Top Transcription factor binding sites by QIAGEN in the CNDP2 gene promoter:
  • Elk-1
  • GCNF-2
  • GR
  • GR-alpha
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c

Genomic Locations for CNDP2 Gene

Genomic Locations for CNDP2 Gene
chr18:74,495,816-74,523,454
(GRCh38/hg38)
Size:
27,639 bases
Orientation:
Plus strand
chr18:72,163,051-72,190,689
(GRCh37/hg19)
Size:
27,639 bases
Orientation:
Plus strand

Genomic View for CNDP2 Gene

Genes around CNDP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNDP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNDP2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CNDP2 Gene

Proteins for CNDP2 Gene

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  • Protein details for CNDP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96KP4-CNDP2_HUMAN
    Recommended name:
    Cytosolic non-specific dipeptidase
    Protein Accession:
    Q96KP4
    Secondary Accessions:
    • B3KUG4
    • Q8WY59
    • Q9BQ94
    • Q9NVB4
    • V9HWE5

    Protein attributes for CNDP2 Gene

    Size:
    475 amino acids
    Molecular mass:
    52878 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • The reverse proteolysis is not negligible in vivo as long as the substrates are present in considerable concentrations, such as upon physical exercice. N-lac-Phe plasma levels are increased in patients with PKU with increased plasma Phe levels. N-lactoyl-amino acids are present in many tissues.
    • [Isoform 2]: Lacks a part of the catalytic domain.

    Three dimensional structures from OCA and Proteopedia for CNDP2 Gene

    Alternative splice isoforms for CNDP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNDP2 Gene

Protein Expression for CNDP2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CNDP2 Gene

  • Ubiquitination at Lys24, Lys383, and Lys402
  • Modification sites at PhosphoSitePlus

Other Protein References for CNDP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CNDP2 Gene

Domains & Families for CNDP2 Gene

Gene Families for CNDP2 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CNDP2 Gene

Blocks:
  • Peptidase dimerisation
  • ArgE/dapE/ACY1/CPG2/yscS
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CNDP2 Gene

GenScript: Design optimal peptide antigens:
  • Peptidase A (CNDP2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96KP4

UniProtKB/Swiss-Prot:

CNDP2_HUMAN :
  • Belongs to the peptidase M20A family.
Family:
  • Belongs to the peptidase M20A family.
genes like me logo Genes that share domains with CNDP2: view

Function for CNDP2 Gene

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Molecular function for CNDP2 Gene

UniProtKB/Swiss-Prot Function:
Hydrolyzes a variety of dipeptides including L-carnosine but has a strong preference for Cys-Gly (PubMed:19346245). Acts as a functional tumor suppressor in gastric cancer via activation of the mitogen-activated protein kinase (MAPK) pathway. An elevated level of CNDP2 activates the p38 and JNK MAPK pathways to induce cell apoptosis, and a lower level of CNDP2 activates the ERK MAPK pathway to promote cell proliferation (PubMed:24395568). Isoform 2 may play a role as tumor suppressor in hepatocellular carcinoma (HCC) cells (PubMed:17121880). Catalyzes the production of N-lactoyl-amino acids from lactate and amino acids by reverse proteolysis (PubMed:25964343).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolysis of dipeptides, preferentially hydrophobic dipeptides including prolyl amino acids.; EC=3.4.13.18; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by p-hydroxymercurybenzoate. The inhibitory concentration 50% (IC(50)) is 13 uM. Inhibited by bestatin. The inhibitory concentration 50% (IC(50)) is 7 nM at pH 9.5.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.04 mM for Ser-Gln (at pH 7.5 and in the presence of 0.1 mM manganese ions) {ECO:0000269 PubMed:12473676, ECO:0000269 PubMed:19346245}; KM=0.6 mM for Cys-Gly (at pH 8.0 and in the presence of 50 uM manganese ions) {ECO:0000269 PubMed:12473676, ECO:0000269 PubMed:19346245}; KM=15 mM for carnosine (at pH 9.5 and in the presence of 0.1 mM manganese ions) {ECO:0000269 PubMed:12473676, ECO:0000269 PubMed:19346245};

Enzyme Numbers (IUBMB) for CNDP2 Gene

Phenotypes From GWAS Catalog for CNDP2 Gene

Gene Ontology (GO) - Molecular Function for CNDP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004180 carboxypeptidase activity IEA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0016805 dipeptidase activity IEA --
genes like me logo Genes that share ontologies with CNDP2: view
genes like me logo Genes that share phenotypes with CNDP2: view

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No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CNDP2 Gene

Localization for CNDP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNDP2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CNDP2 gene
Compartment Confidence
cytosol 5
nucleus 4
cytoskeleton 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CNDP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA,TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with CNDP2: view

Pathways & Interactions for CNDP2 Gene

genes like me logo Genes that share pathways with CNDP2: view

Gene Ontology (GO) - Biological Process for CNDP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006750 glutathione biosynthetic process TAS --
genes like me logo Genes that share ontologies with CNDP2: view

No data available for SIGNOR curated interactions for CNDP2 Gene

Drugs & Compounds for CNDP2 Gene

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(1) Additional Compounds for CNDP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CNDP2: view

Transcripts for CNDP2 Gene

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mRNA/cDNA for CNDP2 Gene

6 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
29 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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Alternative Splicing Database (ASD) splice patterns (SP) for CNDP2 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g · 6h ^ 7 ^ 8a · 8b · 8c · 8d ^ 9a · 9b ·
SP1: - - - - - - - - -
SP2: - - -
SP3: - - - - - - - - - - - - -
SP4: - - - - - - -
SP5: - - - - - - - - - - - -
SP6: -
SP7:
SP8: - - - - - - - - - - - - - - - - - -
SP9: - - - - - - - - - - - -
SP10: - - - - - - - -
SP11: -
SP12: - - - - - - - - - - -
SP13: - - - - - - - - - - -
SP14: -
SP15: - - -
SP16: - - - -
SP17:
SP18: - - - - - - - - - - - - - - - - - - -
SP19: - - - - - - - - - - -
SP20: - - -
SP21: -
SP22:
SP23:
SP24:
SP25:
SP26:
SP27: -

ExUns: 9c ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b · 13c · 13d · 13e ^ 14a · 14b · 14c · 14d ^ 15 ^ 16a · 16b · 16c ^ 17a · 17b · 17c · 17d ^ 18a · 18b ^ 19a ·
SP1: - - - - -
SP2: - - - - - - - - - - -
SP3:
SP4:
SP5:
SP6: - - -
SP7: - -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: - - -
SP14: - - - -
SP15: - - - - - -
SP16: -
SP17: - -
SP18:
SP19:
SP20:
SP21: - - - - - - - - - - - - - -
SP22:
SP23: - - - - - - -
SP24: - - -
SP25: -
SP26: -
SP27:

ExUns: 19b ^ 20 ^ 21
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:

Relevant External Links for CNDP2 Gene

GeneLoc Exon Structure for
CNDP2

Expression for CNDP2 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CNDP2 Gene

mRNA expression in normal human tissues for CNDP2 Gene
mRNA expression by GTEx for CNDP2 GenemRNA expression by BioGPS for CNDP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CNDP2 Gene

This gene is overexpressed in Kidney - Cortex (x4.9).

Protein differential expression in normal tissues from HIPED for CNDP2 Gene

This gene is overexpressed in Spleen (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CNDP2 Gene



Protein tissue co-expression partners for CNDP2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CNDP2

SOURCE GeneReport for Unigene cluster for CNDP2 Gene:

Hs.149185

mRNA Expression by UniProt/SwissProt for CNDP2 Gene:

Q96KP4-CNDP2_HUMAN
Tissue specificity: Isoform 1 is ubiquitously expressed with higher levels in kidney and liver (at protein level). Expressed in peripheral blood leukocytes (PubMed:12473676). Isoform 2 is expressed in fetal tissues, it is only expressed in adult liver and placental tissues. Down-regulated in gastric cancer tissues (at protein level) (PubMed:24395568).

Evidence on tissue expression from TISSUES for CNDP2 Gene

  • Nervous system(5)
  • Kidney(4.8)
  • Intestine(4.7)
  • Liver(4.5)
  • Spleen(4.5)
  • Lung(3.6)
  • Lymph node(3.1)
  • Skin(2.8)
  • Blood(2.6)
  • Stomach(2.2)
  • Thyroid gland(2.1)
  • Heart(2)
genes like me logo Genes that share expression patterns with CNDP2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CNDP2 Gene

Orthologs for CNDP2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CNDP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CNDP2 31 30
  • 98.95 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia CNDP2 31 30
  • 86.82 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia CNDP2 31 30
  • 84.98 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Cndp2 17 31 30
  • 84.91 (n)
rat
(Rattus norvegicus)
 Mammalia Cndp2 30
  • 84.49 (n)
oppossum
(Monodelphis domestica)
 Mammalia CNDP2 31
  • 84 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 84 (a)
 OneToMany
-- 31
  • 84 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves CNDP2 31 30
  • 75.37 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia CNDP2 31
  • 83 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia cndp2 30
  • 73.77 (n)
MGC75655 30
African clawed frog
(Xenopus laevis)
 Amphibia cn2-prov 30
zebrafish
(Danio rerio)
 Actinopterygii cndp2 31 30
  • 69.91 (n)
 OneToOne
wufd20d11 30
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.11239 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP007619 30
  • 61.06 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG17337 31 30
  • 59.32 (n)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea pes-9 31
  • 57 (a)
 ManyToMany
Y71H2AM.11 31 30
  • 54.96 (n)
 ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AFR252C 30
  • 57.56 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes DUG1 33 31 30
  • 54.96 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0A01001g 30
  • 54.86 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.3123 31
  • 71 (a)
 OneToOne
Cin.4756 30
bread mold
(Neurospora crassa)
 Ascomycetes NCU07153 30
  • 57.01 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPBC1198.08 30
  • 53.76 (n)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.4756 30
Species where no ortholog for CNDP2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CNDP2 Gene

ENSEMBL:
Gene Tree for CNDP2 (if available)
TreeFam:
Gene Tree for CNDP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CNDP2: view image

Paralogs for CNDP2 Gene

Paralogs for CNDP2 Gene

(2) SIMAP similar genes for CNDP2 Gene using alignment to 16 proteins:

  • CNDP2_HUMAN
  • J3KRD5_HUMAN
  • J3KRJ8_HUMAN
  • J3KSS4_HUMAN
  • J3KSV5_HUMAN
  • J3QKQ0_HUMAN
  • J3QKT2_HUMAN
  • J3QL02_HUMAN
  • J3QLU1_HUMAN
  • J3QQN6_HUMAN
  • J3QR27_HUMAN
  • J3QRA8_HUMAN
  • J3QRD0_HUMAN
  • J3QRH4_HUMAN
  • J3QRP4_HUMAN
  • L8EAZ5_HUMAN
genes like me logo Genes that share paralogs with CNDP2: view

Variants for CNDP2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CNDP2 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
754824 Likely Benign: not provided 74,510,842(+) C/T SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
774950 Likely Benign: not provided 74,506,020(+) C/T INTRON_VARIANT
779983 Likely Benign: not provided 74,508,886(+) C/T SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
781417 Benign: not provided 74,518,941(+) C/A INTRON_VARIANT
788917 Benign: not provided 74,501,372(+) C/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for CNDP2 Gene

Structural Variations from Database of Genomic Variants (DGV) for CNDP2 Gene

Variant ID Type Subtype PubMed ID
esv1617659 CNV insertion 17803354
esv2717347 CNV deletion 23290073
esv2717348 CNV deletion 23290073
esv3643117 CNV loss 21293372
esv3643118 CNV gain 21293372
esv3643121 CNV gain 21293372
nsv1057441 CNV gain 25217958
nsv1150778 CNV deletion 26484159
nsv577655 CNV loss 21841781

Variation tolerance for CNDP2 Gene

Residual Variation Intolerance Score: 35.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.43; 88.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CNDP2 Gene

Human Gene Mutation Database (HGMD)
CNDP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNDP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNDP2 Gene

Disorders for CNDP2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for CNDP2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
penile cancer
  • ca penis
polyarticular juvenile idiopathic arthritis
  • juvenile polyarthritis
intermediate malignant teratoma
  • intermediate immature teratoma
coffin-siris syndrome 4
  • css4
pyriform sinus cancer
  • malignant neoplasm of pyriform fossa
- elite association - COSMIC cancer census association via MalaCards
Search CNDP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CNDP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CNDP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CNDP2 Gene

Publications for CNDP2 Gene

  1. Sequence identification and characterization of human carnosinase and a closely related non-specific dipeptidase. (PMID: 12473676) Teufel M … Smirnova T (The Journal of biological chemistry 2003) 2 3 4 23 54
  2. The influence of carnosinase gene polymorphisms on diabetic nephropathy risk in African-Americans. (PMID: 19373489) McDonough CW … Bowden DW (Human genetics 2009) 3 23 41 54
  3. Exclusion of polymorphisms in carnosinase genes (CNDP1 and CNDP2) as a cause of diabetic nephropathy in type 1 diabetes: results of large case-control and follow-up studies. (PMID: 18753673) Wanic K … Krolewski AS (Diabetes 2008) 3 23 41 54
  4. N-lactoyl-amino acids are ubiquitous metabolites that originate from CNDP2-mediated reverse proteolysis of lactate and amino acids. (PMID: 25964343) Jansen RS … van de Wetering K (Proceedings of the National Academy of Sciences of the United States of America 2015) 3 4 54
  5. Underexpressed CNDP2 participates in gastric cancer growth inhibition through activating the MAPK signaling pathway. (PMID: 24395568) Zhang Z … Jiao B (Molecular medicine (Cambridge, Mass.) 2014) 3 4 54

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