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
  • CPGL 2 3 4
  • CN2 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
  • HsT2298 2 3
  • PEPA 3 4
  • CNDP Dipeptidase 2 4
  • EC 3.4.13.18 4
  • FLJ10830 2
  • CNDP2 5

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 Pyriform Sinus Cancer and Coffin-Siris Syndrome 4. Among its related pathways are Sulfur amino acid metabolism and Cytochrome P450 - arranged by substrate type. 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).

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 Pubs

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
GH18J074494 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 272.2 +2.8 2800 8 TBP ZBTB10 SP1 MXD4 NR2C1 MNT IKZF1 SMAD5 ETS1 IRF2 CNDP2 HSALNG0122445 ZNF407 CNDP1 CYB5A FAUP1 HSALNG0122444
GH18J074493 Enhancer 0.7 ENCODE dbSUPER 250.7 -2.0 -1995 0.2 CTCF REST SMC3 RAD21 ZNF580 KDM3A PPARG MIXL1 ZNF654 CNDP2 CNDP1 CYB5A MK280144-313 DIPK1C
GH18J074480 Promoter/Enhancer 1.4 EPDnew FANTOM5 ENCODE 21.4 -15.2 -15240 2.4 CEBPA MNT IKZF1 HES1 THAP11 ARNT FOXA2 VEZF1 NBN SAP130 DIPK1C CNDP2 MK280144-313 ENSG00000287689 HSALNG0122442
GH18J074454 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 11.7 -39.3 -39315 3.8 ZBTB10 EZH2 GLIS2 ZBTB26 ZNF335 DIPK1C HSALNG0122440 CNDP2 C18orf63
GH18J074505 Enhancer 0.9 Ensembl ENCODE dbSUPER 15.9 +12.0 12028 4.4 MAFF TAL1 RBM22 ZNF316 MAFK TCF12 MAFG ARID1B CBFA2T2 SOX6 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 the GeneHancer Hub at the UCSC Golden Path

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

Latest Assembly
chr18:74,495,816-74,523,454
(GRCh38/hg38)
Size:
27,639 bases
Orientation:
Plus strand

Previous Assembly
chr18:72,163,598-72,190,689
(GRCh37/hg19 by Entrez Gene)
Size:
27,092 bases
Orientation:
Plus strand

chr18:72,163,051-72,188,366
(GRCh37/hg19 by Ensembl)
Size:
25,316 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 StructureGene Density

RefSeq DNA sequence for CNDP2 Gene

Proteins for CNDP2 Gene

  • 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

Post-translational modifications for CNDP2 Gene

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

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

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

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={ECO:0000269|PubMed:12473676};.
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};
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.

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 IBA 21873635
GO:0008237 metallopeptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0016805 dipeptidase activity IBA,IEA --
genes like me logo Genes that share ontologies with CNDP2: view
genes like me logo Genes that share phenotypes with CNDP2: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNDP2

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
extracellular 4
nucleus 4
cytoskeleton 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
endosome 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 IBA 21873635
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

(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

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 :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNDP2

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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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(4.9)
  • Intestine(4.7)
  • Spleen(4.6)
  • Liver(4.6)
  • Lung(3.6)
  • Skin(3.5)
  • Lymph node(3.1)
  • Blood(3.1)
  • Heart(2.6)
  • Stomach(2.5)
  • Thyroid gland(2.5)
  • Muscle(2.4)
  • Eye(2.4)
  • Pancreas(2.2)
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 30 31
  • 98.95 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CNDP2 30 31
  • 86.82 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CNDP2 30 31
  • 84.98 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cndp2 30 17 31
  • 84.91 (n)
OneToOne
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 30 31
  • 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 30 31
  • 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 30 31
  • 59.32 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea pes-9 31
  • 57 (a)
ManyToMany
Y71H2AM.11 30 31
  • 54.96 (n)
ManyToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFR252C 30
  • 57.56 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DUG1 30 31 33
  • 54.96 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A01001g 30
  • 54.86 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3123 31
  • 71 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU07153 30
  • 57.01 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC1198.08 30
  • 53.76 (n)
Sea Vase
(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

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
rs112548120 Benign: not provided 74,518,941(+) C/A
NM_018235.3(CNDP2):c.1211-8C>A
INTRON
rs151185140 Benign: not provided 74,501,372(+) C/T
NM_018235.3(CNDP2):c.104C>T (p.Pro35Leu)
MISSENSE_VARIANT,FIVE_PRIME_UTR
rs561907242 Likely Benign: not provided 74,506,020(+) C/T
NM_018235.3(CNDP2):c.367+9C>T
INTRON
rs751859927 Likely Benign: not provided 74,510,842(+) C/T
NM_018235.3(CNDP2):c.486C>T (p.Leu162=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs773773845 Likely Benign: not provided 74,508,886(+) C/T
NM_018235.3(CNDP2):c.414C>T (p.Ala138=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CNDP2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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 Assays for research

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

Disorders for CNDP2 Gene

MalaCards: The human disease database

(16) MalaCards diseases for CNDP2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
pyriform sinus cancer
  • malignant neoplasm of pyriform fossa
coffin-siris syndrome 4
  • css4
intermediate malignant teratoma
  • intermediate immature teratoma
polyarticular juvenile idiopathic arthritis
  • juvenile polyarthritis
coffin-siris syndrome 2
  • css2
- 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
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  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
  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
  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
  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

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Sources for CNDP2 Gene