Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	23005
Gene name Gene Name - the full gene name approved by the HGNC.	Mitogen-activated protein kinase binding protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MAPKBP1
Synonyms (NCBI Gene) Gene synonyms aliases	JNKBP-1, JNKBP1, NPHP20
Disease Acronyms (UniProt) Disease acronyms from UniProt database	NPHP20
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q15.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a scaffold protein that regulates the JNK (c-Jun N-terminal kinase) and NOD2 (nucleotide-binding oligomerization domain-containing protein 2) signaling pathways. The encoded protein interacts with another related JNK pathway scaffold pro

Show/Hide all(7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs202001274	C>G,T	Pathogenic	Missense variant, intron variant, coding sequence variant, non coding transcript variant, stop gained
rs752616462	C>G,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs1057519303	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057519304	C>A,T	Pathogenic	Stop gained, synonymous variant, non coding transcript variant, coding sequence variant
rs1057519305	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1057519306	G>A	Pathogenic	Splice acceptor variant
rs1596088812	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained

Show/Hide all(218)

miRTarBase ID	miRNA	Experiments	Reference
MIRT715515	hsa-miR-29b-3p	HITS-CLIP	19536157
MIRT715514	hsa-miR-29c-3p	HITS-CLIP	19536157
MIRT715513	hsa-miR-29a-3p	HITS-CLIP	19536157
MIRT715512	hsa-miR-6800-3p	HITS-CLIP	19536157
MIRT715511	hsa-miR-3065-3p	HITS-CLIP	19536157
MIRT715510	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT715509	hsa-miR-342-3p	HITS-CLIP	19536157
MIRT715508	hsa-miR-18a-3p	HITS-CLIP	19536157
MIRT715507	hsa-miR-4290	HITS-CLIP	19536157
MIRT617689	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT617687	hsa-miR-7113-5p	HITS-CLIP	23824327
MIRT617686	hsa-miR-4685-5p	HITS-CLIP	23824327
MIRT617685	hsa-miR-6837-5p	HITS-CLIP	23824327
MIRT617684	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT617689	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT617688	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT617687	hsa-miR-7113-5p	HITS-CLIP	23824327
MIRT617686	hsa-miR-4685-5p	HITS-CLIP	23824327
MIRT617685	hsa-miR-6837-5p	HITS-CLIP	23824327
MIRT617684	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT617689	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT617688	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT617687	hsa-miR-7113-5p	HITS-CLIP	23824327
MIRT617686	hsa-miR-4685-5p	HITS-CLIP	23824327
MIRT617685	hsa-miR-6837-5p	HITS-CLIP	23824327
MIRT617684	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT473684	hsa-miR-519a-3p	PAR-CLIP	23592263
MIRT473683	hsa-miR-519b-3p	PAR-CLIP	23592263
MIRT473682	hsa-miR-519c-3p	PAR-CLIP	23592263
MIRT473681	hsa-miR-3927-3p	PAR-CLIP	23592263
MIRT473679	hsa-miR-6831-5p	PAR-CLIP	23592263
MIRT473680	hsa-miR-605-3p	PAR-CLIP	23592263
MIRT473678	hsa-miR-4493	PAR-CLIP	23592263
MIRT473677	hsa-miR-7854-3p	PAR-CLIP	23592263
MIRT473676	hsa-miR-3665	PAR-CLIP	23592263
MIRT473675	hsa-miR-657	PAR-CLIP	23592263
MIRT473674	hsa-miR-4451	PAR-CLIP	23592263
MIRT473673	hsa-miR-6126	PAR-CLIP	23592263
MIRT715515	hsa-miR-29b-3p	HITS-CLIP	19536157
MIRT715514	hsa-miR-29c-3p	HITS-CLIP	19536157
MIRT715513	hsa-miR-29a-3p	HITS-CLIP	19536157
MIRT715512	hsa-miR-6800-3p	HITS-CLIP	19536157
MIRT715511	hsa-miR-3065-3p	HITS-CLIP	19536157
MIRT715510	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT715509	hsa-miR-342-3p	HITS-CLIP	19536157
MIRT715508	hsa-miR-18a-3p	HITS-CLIP	19536157
MIRT715507	hsa-miR-4290	HITS-CLIP	19536157
MIRT617689	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT617687	hsa-miR-7113-5p	HITS-CLIP	23824327
MIRT617686	hsa-miR-4685-5p	HITS-CLIP	23824327
MIRT617685	hsa-miR-6837-5p	HITS-CLIP	23824327
MIRT617684	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT617689	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT617688	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT617687	hsa-miR-7113-5p	HITS-CLIP	23824327
MIRT617686	hsa-miR-4685-5p	HITS-CLIP	23824327
MIRT617685	hsa-miR-6837-5p	HITS-CLIP	23824327
MIRT617684	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT617689	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT617688	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT617687	hsa-miR-7113-5p	HITS-CLIP	23824327
MIRT617686	hsa-miR-4685-5p	HITS-CLIP	23824327
MIRT617685	hsa-miR-6837-5p	HITS-CLIP	23824327
MIRT617684	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT473684	hsa-miR-519a-3p	PAR-CLIP	23592263
MIRT473683	hsa-miR-519b-3p	PAR-CLIP	23592263
MIRT473682	hsa-miR-519c-3p	PAR-CLIP	23592263
MIRT473681	hsa-miR-3927-3p	PAR-CLIP	23592263
MIRT473679	hsa-miR-6831-5p	PAR-CLIP	23592263
MIRT473680	hsa-miR-605-3p	PAR-CLIP	23592263
MIRT473678	hsa-miR-4493	PAR-CLIP	23592263
MIRT473677	hsa-miR-7854-3p	PAR-CLIP	23592263
MIRT473676	hsa-miR-3665	PAR-CLIP	23592263
MIRT473675	hsa-miR-657	PAR-CLIP	23592263
MIRT473674	hsa-miR-4451	PAR-CLIP	23592263
MIRT473673	hsa-miR-6126	PAR-CLIP	23592263
MIRT1131558	hsa-miR-1307	CLIP-seq
MIRT1131559	hsa-miR-132	CLIP-seq
MIRT1131560	hsa-miR-1827	CLIP-seq
MIRT1131561	hsa-miR-197	CLIP-seq
MIRT1131562	hsa-miR-2110	CLIP-seq
MIRT1131563	hsa-miR-212	CLIP-seq
MIRT1131564	hsa-miR-296-5p	CLIP-seq
MIRT1131565	hsa-miR-29a	CLIP-seq
MIRT1131566	hsa-miR-29b	CLIP-seq
MIRT1131567	hsa-miR-29c	CLIP-seq
MIRT1131568	hsa-miR-3125	CLIP-seq
MIRT1131569	hsa-miR-3187-3p	CLIP-seq
MIRT1131570	hsa-miR-3202	CLIP-seq
MIRT1131571	hsa-miR-3648	CLIP-seq
MIRT1131572	hsa-miR-3916	CLIP-seq
MIRT1131573	hsa-miR-3929	CLIP-seq
MIRT1131574	hsa-miR-411	CLIP-seq
MIRT1131575	hsa-miR-4270	CLIP-seq
MIRT1131576	hsa-miR-4271	CLIP-seq
MIRT1131577	hsa-miR-4284	CLIP-seq
MIRT1131578	hsa-miR-4316	CLIP-seq
MIRT1131579	hsa-miR-4419b	CLIP-seq
MIRT1131580	hsa-miR-4435	CLIP-seq
MIRT1131581	hsa-miR-4438	CLIP-seq
MIRT1131582	hsa-miR-4441	CLIP-seq
MIRT1131583	hsa-miR-4464	CLIP-seq
MIRT1131584	hsa-miR-4478	CLIP-seq
MIRT1131585	hsa-miR-4481	CLIP-seq
MIRT1131586	hsa-miR-4638-5p	CLIP-seq
MIRT1131587	hsa-miR-4640-5p	CLIP-seq
MIRT1131588	hsa-miR-4666-3p	CLIP-seq
MIRT1131589	hsa-miR-4695-3p	CLIP-seq
MIRT1131590	hsa-miR-4701-5p	CLIP-seq
MIRT1131591	hsa-miR-4707-3p	CLIP-seq
MIRT1131592	hsa-miR-4709-5p	CLIP-seq
MIRT1131593	hsa-miR-4716-5p	CLIP-seq
MIRT1131594	hsa-miR-4725-3p	CLIP-seq
MIRT1131595	hsa-miR-4726-5p	CLIP-seq
MIRT1131596	hsa-miR-4731-5p	CLIP-seq
MIRT1131597	hsa-miR-4745-5p	CLIP-seq
MIRT1131598	hsa-miR-4747-5p	CLIP-seq
MIRT1131599	hsa-miR-4748	CLIP-seq
MIRT1131600	hsa-miR-4749-3p	CLIP-seq
MIRT1131601	hsa-miR-4755-3p	CLIP-seq
MIRT1131602	hsa-miR-4781-3p	CLIP-seq
MIRT1131603	hsa-miR-491-5p	CLIP-seq
MIRT1131604	hsa-miR-498	CLIP-seq
MIRT1131605	hsa-miR-5095	CLIP-seq
MIRT1131606	hsa-miR-5096	CLIP-seq
MIRT1131607	hsa-miR-548s	CLIP-seq
MIRT1131608	hsa-miR-588	CLIP-seq
MIRT1131609	hsa-miR-877	CLIP-seq
MIRT1131610	hsa-miR-1238	CLIP-seq
MIRT1131611	hsa-miR-3124-3p	CLIP-seq
MIRT1131569	hsa-miR-3187-3p	CLIP-seq
MIRT1131573	hsa-miR-3929	CLIP-seq
MIRT1131579	hsa-miR-4419b	CLIP-seq
MIRT1131580	hsa-miR-4435	CLIP-seq
MIRT1131584	hsa-miR-4478	CLIP-seq
MIRT1131589	hsa-miR-4695-3p	CLIP-seq
MIRT1131590	hsa-miR-4701-5p	CLIP-seq
MIRT1131601	hsa-miR-4755-3p	CLIP-seq
MIRT1131602	hsa-miR-4781-3p	CLIP-seq
MIRT1131604	hsa-miR-498	CLIP-seq
MIRT1131607	hsa-miR-548s	CLIP-seq
MIRT1131608	hsa-miR-588	CLIP-seq
MIRT2037461	hsa-miR-103a	CLIP-seq
MIRT2037462	hsa-miR-107	CLIP-seq
MIRT2037463	hsa-miR-1184	CLIP-seq
MIRT2037464	hsa-miR-1976	CLIP-seq
MIRT1131571	hsa-miR-3648	CLIP-seq
MIRT2037465	hsa-miR-4279	CLIP-seq
MIRT1131591	hsa-miR-4707-3p	CLIP-seq
MIRT2037466	hsa-miR-4722-3p	CLIP-seq
MIRT2037467	hsa-miR-4740-3p	CLIP-seq
MIRT2267398	hsa-miR-2467-3p	CLIP-seq
MIRT2267399	hsa-miR-3184	CLIP-seq
MIRT1131569	hsa-miR-3187-3p	CLIP-seq
MIRT2267400	hsa-miR-3612	CLIP-seq
MIRT1131571	hsa-miR-3648	CLIP-seq
MIRT2267401	hsa-miR-3664-3p	CLIP-seq
MIRT2267402	hsa-miR-3944-5p	CLIP-seq
MIRT2267403	hsa-miR-423-5p	CLIP-seq
MIRT2267404	hsa-miR-4252	CLIP-seq
MIRT2267405	hsa-miR-4433	CLIP-seq
MIRT1131580	hsa-miR-4435	CLIP-seq
MIRT2267406	hsa-miR-4443	CLIP-seq
MIRT2267407	hsa-miR-4459	CLIP-seq
MIRT2267408	hsa-miR-4474-3p	CLIP-seq
MIRT2267409	hsa-miR-4675	CLIP-seq
MIRT1131590	hsa-miR-4701-5p	CLIP-seq
MIRT1131591	hsa-miR-4707-3p	CLIP-seq
MIRT2267410	hsa-miR-4741	CLIP-seq
MIRT1131601	hsa-miR-4755-3p	CLIP-seq
MIRT2267411	hsa-miR-4768-3p	CLIP-seq
MIRT1131607	hsa-miR-548s	CLIP-seq
MIRT1131608	hsa-miR-588	CLIP-seq
MIRT2267412	hsa-miR-650	CLIP-seq
MIRT2037461	hsa-miR-103a	CLIP-seq
MIRT2037462	hsa-miR-107	CLIP-seq
MIRT2037463	hsa-miR-1184	CLIP-seq
MIRT1131571	hsa-miR-3648	CLIP-seq
MIRT1131591	hsa-miR-4707-3p	CLIP-seq
MIRT2567168	hsa-miR-1182	CLIP-seq
MIRT2567169	hsa-miR-1229	CLIP-seq
MIRT2567170	hsa-miR-140-3p	CLIP-seq
MIRT1131560	hsa-miR-1827	CLIP-seq
MIRT2037464	hsa-miR-1976	CLIP-seq
MIRT2567171	hsa-miR-3121-5p	CLIP-seq
MIRT2567172	hsa-miR-3156-3p	CLIP-seq
MIRT2267399	hsa-miR-3184	CLIP-seq
MIRT2567173	hsa-miR-328	CLIP-seq
MIRT2267400	hsa-miR-3612	CLIP-seq
MIRT2267403	hsa-miR-423-5p	CLIP-seq
MIRT2267404	hsa-miR-4252	CLIP-seq
MIRT2037465	hsa-miR-4279	CLIP-seq
MIRT2567174	hsa-miR-4281	CLIP-seq
MIRT2567175	hsa-miR-4301	CLIP-seq
MIRT2567176	hsa-miR-4427	CLIP-seq
MIRT2267406	hsa-miR-4443	CLIP-seq
MIRT2567177	hsa-miR-4446-5p	CLIP-seq
MIRT2267409	hsa-miR-4675	CLIP-seq
MIRT2037466	hsa-miR-4722-3p	CLIP-seq
MIRT2037467	hsa-miR-4740-3p	CLIP-seq
MIRT2267410	hsa-miR-4741	CLIP-seq
MIRT2567178	hsa-miR-4755-5p	CLIP-seq
MIRT1131604	hsa-miR-498	CLIP-seq
MIRT2567179	hsa-miR-499-3p	CLIP-seq
MIRT2567180	hsa-miR-499a-3p	CLIP-seq
MIRT2567181	hsa-miR-642a	CLIP-seq
MIRT2267412	hsa-miR-650	CLIP-seq
MIRT2567182	hsa-miR-940	CLIP-seq
MIRT2567168	hsa-miR-1182	CLIP-seq
MIRT2567172	hsa-miR-3156-3p	CLIP-seq
MIRT2567174	hsa-miR-4281	CLIP-seq
MIRT2567175	hsa-miR-4301	CLIP-seq
MIRT2567177	hsa-miR-4446-5p	CLIP-seq
MIRT2684606	hsa-miR-4735-5p	CLIP-seq
MIRT2567178	hsa-miR-4755-5p	CLIP-seq
MIRT2684607	hsa-miR-4775	CLIP-seq
MIRT1131604	hsa-miR-498	CLIP-seq
MIRT2684608	hsa-miR-590-3p	CLIP-seq

Show/Hide all(8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	22700971, 25416956, 28089251, 32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IDA	28089251
GO:0032717	Process	Negative regulation of interleukin-8 production	IMP	22700971
GO:0043124	Process	Negative regulation of I-kappaB kinase/NF-kappaB signaling	IMP	22700971
GO:0097431	Component	Mitotic spindle pole	IDA	28089251
GO:1900425	Process	Negative regulation of defense response to bacterium	IMP	22700971

MIM	HGNC	e!Ensembl
616786	29536	ENSG00000137802

Protein

UniProt ID

O60336

Protein name

Mitogen-activated protein kinase-binding protein 1 (JNK-binding protein 1) (JNKBP-1)

Protein function

Negative regulator of NOD2 function. It down-regulates NOD2-induced processes such as activation of NF-kappa-B signaling, IL8 secretion and antibacterial response (PubMed:22700971). Involved in JNK signaling pathway (By similarity). {ECO:0000250

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	75 → 120	WD domain, G-beta repeat	Repeat
PF00400	WD40	125 → 163	WD domain, G-beta repeat	Repeat
PF00400	WD40	168 → 203	WD domain, G-beta repeat	Repeat
PF00400	WD40	272 → 306	WD domain, G-beta repeat	Repeat
PF00400	WD40	326 → 372	WD domain, G-beta repeat	Repeat
PF00400	WD40	381 → 427	WD domain, G-beta repeat	Repeat
PF00400	WD40	693 → 731	WD domain, G-beta repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Expressed in intestinal mucosa, where it is detected in epithelial cells, endothelial cells, smooth muscle cells and immune cells, such as lymphocytes (PubMed:22700971). Expressed in kidney (PubMed:28089251). {ECO:0000269|PubMed:227009

Sequence

MAVEGSTITSRIKNLLRSPSIKLRRSKAGNRREDLSSKVTLEKVLGITVSGGRGLACDPR
SGLVAYPAGCVVVLFNPRKHKQHHILNSSRKTITALAFSPDGKYLVTGESGHMPAVRVWD
VAEHSQVAELQEHKYGVACVAFSPSAKYIVSVGYQHDMIVNVWAWKKNIVVASNKVSSRV
TAVSFSEDCSYFVTAGNRHIKFWYLDDSKTSKVNATVPLLGRSGLLGELRNNLFTDVACG
RGKKADSTFCITSSGLLCEFSDRRLLDKWVELRNIDSFTTTVAHCISVSQDYIFCGCADG
TVRLFNPSNLHFLSTLPRPHALGTDIASVTEASRLFSGVANARYPDTIALTFDPTNQWLS
CVYNDHSIYVWDVRDPKKVGKVYSALYHSSCVWSVEVYPEVKDSNQACLPPSSFITCSSD
NTIRLWNTESSGVHGSTLHRNILSSDLIKIIYVDGNTQALLDTELPGGDKADASLLDPRV
GIRSVCVSPNGQHLASGDRMGTLRVHELQSLSEMLKVEAHDSEILCLEYSKPDTGLKLLA
SASRDRLIHVLDAGREYSLQQTLDEHSSSITAVKFAASDGQVRMISCGADKSIYFRTAQK
SGDGVQFTRTHHVVRKTTLYDMDVEPSWKYTAIGCQDRNIRIFNISSGKQKKLFKGSQGE
DGTLIKVQTDPSGIYIATSCSDKNLSIFDFSSGECVATMFGHSEIVTGMKFSNDCKHLIS
VSGDSCIFVWRLSSEMTISMRQRLAELRQRQRGGKQQGPSSPQRASGPNRHQAPSMLSPG
PALSSDSDKEGEDEGTEEELPALPVLAKSTKKALASVPSPALPRSLSHWEMSRAQESVGF
LDPAPAANPGPRRRGRWVQPGVELSVRSMLDLRQLETLAPSLQDPSQDSLAIIPSGPRKH
GQEALETSLTSQNEKPPRPQASQPCSYPHIIRLLSQEEGVFAQDLEPAPIEDGIVYPEPS
DNPTMDTSEFQVQAPARGTLGRVYPGSRSSEKHSPDSACSVDYSSSCLSSPEHPTEDSES
TEPLSVDGISSDLEEPAEGDEEEEEEEGGMGPYGLQEGSPQTPDQEQFLKQHFETLASGA
APGAPVQVPERSESRSISSRFLLQVQTRPLREPSPSSSSLALMSRPAQVPQASGEQPRGN
GANPPGAPPEVEPSSGNPSPQQAASVLLPRCRLNPDSSWAPKRVATASPFSGLQKAQSVH
SLVPQERHEASLQAPSPGALLSREIEAQDGLGSLPPADGRPSRPHSYQNPTTSSMAKISR
SISVGENLGLVAEPQAHAPIRVSPLSKLALPSRAHLVLDIPKPLPDRPTLAAFSPVTKGR
APGEAEKPGFPVGLGKAHSTTERWACLGEGTTPKPRTECQAHPGPSSPCAQQLPVSSLFQ
GPENLQPPPPEKTPNPMECTKPGAALSQDSEPAVSLEQCEQLVAELRGSVRQAVRLYHSV
AGCKMPSAEQSRIAQLLRDTFSSVRQELEAVAGAVLSSPGSSPGAVGAEQTQALLEQYSE
LLLRAVERRMERKL

Sequence length

1514

Interactions

View interactions

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Kidney disease	Chronic kidney disease stage 5	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Nephronophthisis	Nephronophthisis, Nephronophthisis, familial juvenile, NEPHRONOPHTHISIS 20, Juvenile nephronophthisis, Late-onset nephronophthisis	rs62635288, rs267607116, rs201893408, rs267607117, rs202149403, rs118204032, rs121918244, rs750962965, rs1474058708, rs119456959, rs119456960, rs119456961, rs119456962, rs267606916, rs137852856 View all (190 more)	28089251
Renal cyst	Simple renal cyst	rs376586707, rs431905522, rs1057518761, rs1555454411, rs140039128, rs1567413573

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Diabetes	Diabetes			GWAS

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text Mining
Ciliopathies	Associate	32055034
Kidney Diseases	Associate	32505465
Leukemia Myeloid Acute	Associate	25924238
Nephronophthisis familial juvenile	Associate	32505465
Renal Insufficiency Chronic	Associate	32505465

MAPKBP1 (mitogen-activated protein kinase binding protein 1)