Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10241
Gene name Gene Name - the full gene name approved by the HGNC.
Calcium binding and coiled-coil domain 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CALCOCO2
Synonyms (NCBI Gene) Gene synonyms aliases
NDP52
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.32
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a receptor for ubiquitin-coated bacteria and plays an important role in innate immunity by mediating macroautophagy. Alternatively spliced transcript variants enco
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001647 hsa-let-7b-5p pSILAC 18668040
MIRT021616 hsa-miR-142-3p Microarray 17612493
MIRT028168 hsa-miR-93-5p Sequencing 20371350
MIRT032106 hsa-let-7d-5p Sequencing 20371350
MIRT001647 hsa-let-7b-5p Proteomics;Other 18668040
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000421 Component Autophagosome membrane IEA
GO:0005515 Function Protein binding IPI 12869526, 16189514, 18330356, 18985028, 21516116, 21903422, 21988832, 22246324, 23245322, 25416956, 25910212, 26871637, 28514442, 29892012, 31515488, 32296183
GO:0005634 Component Nucleus TAS 7540613
GO:0005737 Component Cytoplasm IDA 9230084
GO:0005776 Component Autophagosome IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604587 29912 ENSG00000136436
Protein
UniProt ID Q13137
Protein name Calcium-binding and coiled-coil domain-containing protein 2 (Antigen nuclear dot 52 kDa protein) (Nuclear domain 10 protein NDP52) (Nuclear domain 10 protein 52) (Nuclear dot protein 52)
Protein function Xenophagy-specific receptor required for autophagy-mediated intracellular bacteria degradation. Acts as an effector protein of galectin-sensed membrane damage that restricts the proliferation of infecting pathogens such as Salmonella typhimurium
PDB 2MXP , 3VVV , 3VVW , 4GXL , 4HAN , 4XKL , 5AAQ , 5Z7A , 5Z7L , 7EAA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17751 SKICH 23 125 SKICH domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues tested with highest expression in skeletal muscle and lowest in brain. {ECO:0000269|PubMed:7540613}.
Sequence
MEETIKDPPTSAVLLDHCHFSQVIFNSVEKFYIPGGDVTCHYTFTQHFIPRRKDWIGIFR
VGWKTTREYYTFMWVTLPIDLNNKSAKQQEVQFKAYYLPKDDEYYQFCYVDEDGVVRGAS
IPFQF
RPENEEDILVVTTQGEVEEIEQHNKELCKENQELKDSCISLQKQNSDMQAELQKK
QEELETLQSINKKLELKVKEQKDYWETELLQLKEQNQKMSSENEKMGIRVDQLQAQLSTQ
EKEMEKLVQGDQDKTEQLEQLKKENDHLFLSLTEQRKDQKKLEQTVEQMKQNETTAMKKQ
QELMDENFDLSKRLSENEIICNALQRQKERLEGENDLLKRENSRLLSYMGLDFNSLPYQV
PTSDEGGARQNPGLAYGNPYSGIQESSSPSPLSIKKCPICKADDICDHTLEQQQMQPLCF
NCPICDKIFPATEKQIFEDHVFCHSL
Sequence length 446
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Mitophagy - animal
Autophagy - animal
Shigellosis
Influenza A
 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
25944804
Colorectal neoplasms Colorectal Neoplasms rs28929483, rs63751108, rs28929484, rs63749831, rs63750047, rs63751207, rs63749811, rs1553350126, rs63750875, rs63750955, rs587776706, rs63750871, rs587776715, rs63751466, rs63750049
View all (1682 more)
25944804
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
29632382
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 26365381
Autism Spectrum Disorder Associate 28533516
Autoimmune Diseases Associate 33970776
Carcinoma Squamous Cell Associate 35768804
Cardiomyopathy Dilated Associate 31009519
Crohn Disease Associate 23624108, 23820297
Diabetes Mellitus Type 2 Associate 36543916
Heart Diseases Associate 31009519
Inflammation Inhibit 23624108, 33970776
Leukemia Myeloid Acute Associate 39650664