• Gene id: 952

Gene Summary

• Gene Symbol: CD38   Gene   UCSC   Ensembl
• Aliases: ADPRC 1, ADPRC1
• Gene name: CD38 molecule
• Alternate names: ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1, 2'-phospho-ADP-ribosyl cyclase, 2'-phospho-cyclic-ADP-ribose transferase, ADP-ribosyl cyclase 1, CD38 antigen (p45), NAD(+) nucleosidase, cluster of differentiation 38, cyclic ADP-ribose hydrolase 1, ecto-nicotin,
• Gene location: 4p15.32 (155869429: 155944019)     Exons: 19     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is a non-lineage-restricted, type II transmembrane glycoprotein that synthesizes and hydrolyzes cyclic adenosine 5'-diphosphate-ribose, an intracellular calcium ion mobilizing messenger. The release of soluble protein and
• OMIM: 107270

SNPs

rs10244329

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.128248636A>T
NC_000007.13   g.127888689A>T
NG_007450.1   g.12359A>T|SEQ=[A/T]|GENE=LEP

Protein Summary

• Protein general information: P28907  
  • Name: ADP ribosyl cyclase/cyclic ADP ribose hydrolase 1 (EC 3.2.2.6) (2' phospho ADP ribosyl cyclase) (2' phospho ADP ribosyl cyclase/2' phospho cyclic ADP ribose transferase) (EC 2.4.99.20) (2' phospho cyclic ADP ribose transferase) (ADP ribosyl cyclase 1) (AD
  • Length: 300  
  • Mass: 34328
  • Tissue specificity: Expressed at high levels in pancreas, liver, kidney, brain, testis, ovary, placenta, malignant lymphoma and neuroblastoma. {ECO
• Sequence:

  MANCEFSPVSGDKPCCRLSRRAQLCLGVSILVLILVVVLAVVVPRWRQQWSGPGTTKRFPETVLARCVKYTEIHP
  EMRHVDCQSVWDAFKGAFISKHPCNITEEDYQPLMKLGTQTVPCNKILLWSRIKDLAHQFTQVQRDMFTLEDTLL
  GYLADDLTWCGEFNTSKINYQSCPDWRKDCSNNPVSVFWKTVSRRFAEAACDVVHVMLNGSRSKIFDKNSTFGSV
  EVHNLQPEKVQTLEAWVIHGGREDSRDLCQDPTIKELESIISKRNIQFSCKNIYRPDKFLQCVKNPEDSSCTSEI

• Structural information:
  • Interpro: IPR003193  IPR033567  
  • CDD: cd04759
  • PDB: 1YH3 1ZVM 2EF1 2HCT 2I65 2I66 2I67 2O3Q 2O3R 2O3S 2O3T 2O3U 2PGJ 2PGL 3DZF 3DZG 3DZH 3DZI 3DZJ 3DZK 3F6Y 3I9M 3I9N 3OFS 3RAJ 3ROK 3ROM 3ROP 3ROQ 3U4H 3U4I 4CMH 4F45 4F46 4OGW 4TMF 4XJS 4XJT 5F1K 5F1O 5F21 6EDR
  • PDBsum: 1YH3 1ZVM 2EF1 2HCT 2I65 2I66 2I67 2O3Q 2O3R 2O3S 2O3T 2O3U 2PGJ 2PGL 3DZF 3DZG 3DZH 3DZI 3DZJ 3DZK 3F6Y 3I9M 3I9N 3OFS 3RAJ 3ROK 3ROM 3ROP 3ROQ 3U4H 3U4I 4CMH 4F45 4F46 4OGW 4TMF 4XJS 4XJT 5F1K 5F1O 5F21 6EDR
  • STRING: ENSP00000226279
• Other Databases: GeneCards:  CD38  Malacards:  CD38

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0016849	phosphorus-oxygen lyase activity	IBA	molecular function
GO:0030890	positive regulation of B cell proliferation	IBA	biological process
GO:0003953	NAD+ nucleosidase activity	IBA	molecular function
GO:0003953	NAD+ nucleosidase activity	IEA	molecular function
GO:0050135	NAD(P)+ nucleosidase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0007165	signal transduction	NAS	biological process
GO:0097190	apoptotic signaling pathway	TAS	biological process
GO:0050135	NAD(P)+ nucleosidase activity	IEA	molecular function
GO:0061809	NAD+ nucleotidase, cyclic ADP-ribose generating	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0003953	NAD+ nucleosidase activity	TAS	molecular function
GO:0019674	NAD metabolic process	TAS	biological process
GO:0070555	response to interleukin-1	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0034097	response to cytokine	IEA	biological process
GO:0033194	response to hydroperoxide	IEA	biological process
GO:0032570	response to progesterone	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0014824	artery smooth muscle contraction	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0007565	female pregnancy	IEA	biological process
GO:0003953	NAD+ nucleosidase activity	IEA	molecular function
GO:0001666	response to hypoxia	IEA	biological process
GO:0060292	long-term synaptic depression	IEA	biological process
GO:0045907	positive regulation of vasoconstriction	IEA	biological process
GO:0045779	negative regulation of bone resorption	IEA	biological process
GO:0032526	response to retinoic acid	IEA	biological process
GO:0032024	positive regulation of insulin secretion	IEA	biological process
GO:0030667	secretory granule membrane	IEA	cellular component
GO:0030307	positive regulation of cell growth	IEA	biological process
GO:0010977	negative regulation of neuron projection development	IEA	biological process
GO:0009725	response to hormone	IEA	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0030890	positive regulation of B cell proliferation	IEA	biological process
GO:0016849	phosphorus-oxygen lyase activity	IEA	molecular function
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0050853	B cell receptor signaling pathway	IMP	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0042493	response to drug	IMP	biological process
GO:0030890	positive regulation of B cell proliferation	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04020	Calcium signaling pathway
hsa04921	Oxytocin signaling pathway
hsa04972	Pancreatic secretion
hsa04970	Salivary secretion
hsa04640	Hematopoietic cell lineage
hsa00760	Nicotinate and nicotinamide metabolism
P06959	CCKR signaling map
P06959	CCKR signaling map

Diseases

Associated diseases	References
type 2 diabetes mellitus	PMID:12242463
type 2 diabetes mellitus	PMID:9754820
type 1 diabetes mellitus	PMID:16459468
type 1 diabetes mellitus	PMID:12488956
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq