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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10134
Gene name Gene Name - the full gene name approved by the HGNC.	B cell receptor associated protein 31
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BCAP31
Synonyms (NCBI Gene) Gene synonyms aliases	6C6-AG, BAP31, CDM, DDCH, DELXQ28, DXS1357E, MICRODELXq28
Disease Acronyms (UniProt) Disease acronyms from UniProt database	DDCH
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xq28
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endopla

Show/Hide all(7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs111450526	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs397515620	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs879255569	T>C,G	Pathogenic	Splice acceptor variant
rs886041892	GA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1064794057	A>C	Not-provided, pathogenic	Splice donor variant
rs1557047954	AG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1603223001	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained

Show/Hide all(201)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049973	hsa-miR-29a-3p	CLASH	23622248
MIRT042706	hsa-miR-346	CLASH	23622248
MIRT817461	hsa-miR-1243	CLIP-seq
MIRT817462	hsa-miR-1266	CLIP-seq
MIRT817463	hsa-miR-1275	CLIP-seq
MIRT817464	hsa-miR-1278	CLIP-seq
MIRT817465	hsa-miR-1280	CLIP-seq
MIRT817466	hsa-miR-15a	CLIP-seq
MIRT817467	hsa-miR-15b	CLIP-seq
MIRT817468	hsa-miR-16	CLIP-seq
MIRT817469	hsa-miR-195	CLIP-seq
MIRT817470	hsa-miR-214	CLIP-seq
MIRT817471	hsa-miR-298	CLIP-seq
MIRT817472	hsa-miR-3154	CLIP-seq
MIRT817473	hsa-miR-3160-3p	CLIP-seq
MIRT817474	hsa-miR-3190	CLIP-seq
MIRT817475	hsa-miR-3202	CLIP-seq
MIRT817476	hsa-miR-3619-5p	CLIP-seq
MIRT817477	hsa-miR-3622a-5p	CLIP-seq
MIRT817478	hsa-miR-3654	CLIP-seq
MIRT817479	hsa-miR-3664-3p	CLIP-seq
MIRT817480	hsa-miR-424	CLIP-seq
MIRT817481	hsa-miR-4269	CLIP-seq
MIRT817482	hsa-miR-4271	CLIP-seq
MIRT817483	hsa-miR-4323	CLIP-seq
MIRT817484	hsa-miR-4419a	CLIP-seq
MIRT817485	hsa-miR-4487	CLIP-seq
MIRT817486	hsa-miR-4510	CLIP-seq
MIRT817487	hsa-miR-4518	CLIP-seq
MIRT817488	hsa-miR-4525	CLIP-seq
MIRT817489	hsa-miR-4533	CLIP-seq
MIRT817490	hsa-miR-4665-5p	CLIP-seq
MIRT817491	hsa-miR-4690-3p	CLIP-seq
MIRT817492	hsa-miR-4690-5p	CLIP-seq
MIRT817493	hsa-miR-4723-5p	CLIP-seq
MIRT817494	hsa-miR-4725-3p	CLIP-seq
MIRT817495	hsa-miR-4755-3p	CLIP-seq
MIRT817496	hsa-miR-4758-3p	CLIP-seq
MIRT817497	hsa-miR-497	CLIP-seq
MIRT817498	hsa-miR-556-5p	CLIP-seq
MIRT817499	hsa-miR-558	CLIP-seq
MIRT817500	hsa-miR-625	CLIP-seq
MIRT817501	hsa-miR-761	CLIP-seq
MIRT817502	hsa-miR-873	CLIP-seq
MIRT2180534	hsa-miR-1972	CLIP-seq
MIRT2180535	hsa-miR-2277-3p	CLIP-seq
MIRT2180536	hsa-miR-3120-3p	CLIP-seq
MIRT2180537	hsa-miR-331-3p	CLIP-seq
MIRT2180538	hsa-miR-335	CLIP-seq
MIRT2180539	hsa-miR-371-5p	CLIP-seq
MIRT2180540	hsa-miR-3908	CLIP-seq
MIRT2180541	hsa-miR-3912	CLIP-seq
MIRT2180542	hsa-miR-3925-3p	CLIP-seq
MIRT2180543	hsa-miR-3942-5p	CLIP-seq
MIRT2180544	hsa-miR-4283	CLIP-seq
MIRT2180545	hsa-miR-4437	CLIP-seq
MIRT2180546	hsa-miR-4539	CLIP-seq
MIRT2180547	hsa-miR-455-3p	CLIP-seq
MIRT2180548	hsa-miR-4667-3p	CLIP-seq
MIRT2180549	hsa-miR-4703-5p	CLIP-seq
MIRT817495	hsa-miR-4755-3p	CLIP-seq
MIRT2180550	hsa-miR-4766-3p	CLIP-seq
MIRT2180551	hsa-miR-508-5p	CLIP-seq
MIRT2180552	hsa-miR-545	CLIP-seq
MIRT2180547	hsa-miR-455-3p	CLIP-seq
MIRT2180548	hsa-miR-4667-3p	CLIP-seq
MIRT2483876	hsa-miR-1227	CLIP-seq
MIRT817461	hsa-miR-1243	CLIP-seq
MIRT2483877	hsa-miR-1270	CLIP-seq
MIRT817463	hsa-miR-1275	CLIP-seq
MIRT817464	hsa-miR-1278	CLIP-seq
MIRT2483878	hsa-miR-137	CLIP-seq
MIRT2483879	hsa-miR-143	CLIP-seq
MIRT2483880	hsa-miR-1539	CLIP-seq
MIRT2483881	hsa-miR-185	CLIP-seq
MIRT2180534	hsa-miR-1972	CLIP-seq
MIRT2483882	hsa-miR-1976	CLIP-seq
MIRT2483883	hsa-miR-218	CLIP-seq
MIRT2180535	hsa-miR-2277-3p	CLIP-seq
MIRT817471	hsa-miR-298	CLIP-seq
MIRT2180536	hsa-miR-3120-3p	CLIP-seq
MIRT2483884	hsa-miR-3138	CLIP-seq
MIRT817472	hsa-miR-3154	CLIP-seq
MIRT2483885	hsa-miR-3157-3p	CLIP-seq
MIRT817473	hsa-miR-3160-3p	CLIP-seq
MIRT817474	hsa-miR-3190	CLIP-seq
MIRT2483886	hsa-miR-3193	CLIP-seq
MIRT817475	hsa-miR-3202	CLIP-seq
MIRT2180537	hsa-miR-331-3p	CLIP-seq
MIRT2180538	hsa-miR-335	CLIP-seq
MIRT817478	hsa-miR-3654	CLIP-seq
MIRT2180540	hsa-miR-3908	CLIP-seq
MIRT2483887	hsa-miR-3911	CLIP-seq
MIRT2180541	hsa-miR-3912	CLIP-seq
MIRT2180542	hsa-miR-3925-3p	CLIP-seq
MIRT2483888	hsa-miR-3937	CLIP-seq
MIRT2180543	hsa-miR-3942-5p	CLIP-seq
MIRT817482	hsa-miR-4271	CLIP-seq
MIRT2483889	hsa-miR-4290	CLIP-seq
MIRT2483890	hsa-miR-4306	CLIP-seq
MIRT2483891	hsa-miR-432	CLIP-seq
MIRT817484	hsa-miR-4419a	CLIP-seq
MIRT2483892	hsa-miR-4435	CLIP-seq
MIRT817485	hsa-miR-4487	CLIP-seq
MIRT817486	hsa-miR-4510	CLIP-seq
MIRT817488	hsa-miR-4525	CLIP-seq
MIRT2483893	hsa-miR-4531	CLIP-seq
MIRT817489	hsa-miR-4533	CLIP-seq
MIRT2180546	hsa-miR-4539	CLIP-seq
MIRT2180547	hsa-miR-455-3p	CLIP-seq
MIRT2483894	hsa-miR-4636	CLIP-seq
MIRT2483895	hsa-miR-4644	CLIP-seq
MIRT2483896	hsa-miR-4650-5p	CLIP-seq
MIRT817490	hsa-miR-4665-5p	CLIP-seq
MIRT2180548	hsa-miR-4667-3p	CLIP-seq
MIRT2483897	hsa-miR-4693-3p	CLIP-seq
MIRT2180549	hsa-miR-4703-5p	CLIP-seq
MIRT817493	hsa-miR-4723-5p	CLIP-seq
MIRT817494	hsa-miR-4725-3p	CLIP-seq
MIRT2483898	hsa-miR-4734	CLIP-seq
MIRT817495	hsa-miR-4755-3p	CLIP-seq
MIRT2180550	hsa-miR-4766-3p	CLIP-seq
MIRT2483899	hsa-miR-4770	CLIP-seq
MIRT2483900	hsa-miR-4800-5p	CLIP-seq
MIRT2180551	hsa-miR-508-5p	CLIP-seq
MIRT2180552	hsa-miR-545	CLIP-seq
MIRT2483901	hsa-miR-549	CLIP-seq
MIRT817498	hsa-miR-556-5p	CLIP-seq
MIRT817499	hsa-miR-558	CLIP-seq
MIRT2483902	hsa-miR-574-3p	CLIP-seq
MIRT2483903	hsa-miR-574-5p	CLIP-seq
MIRT2483904	hsa-miR-620	CLIP-seq
MIRT817500	hsa-miR-625	CLIP-seq
MIRT2483905	hsa-miR-636	CLIP-seq
MIRT2483906	hsa-miR-874	CLIP-seq
MIRT2483876	hsa-miR-1227	CLIP-seq
MIRT2483877	hsa-miR-1270	CLIP-seq
MIRT817463	hsa-miR-1275	CLIP-seq
MIRT2483878	hsa-miR-137	CLIP-seq
MIRT2483879	hsa-miR-143	CLIP-seq
MIRT2483880	hsa-miR-1539	CLIP-seq
MIRT2483881	hsa-miR-185	CLIP-seq
MIRT2180534	hsa-miR-1972	CLIP-seq
MIRT2483882	hsa-miR-1976	CLIP-seq
MIRT2483883	hsa-miR-218	CLIP-seq
MIRT2180535	hsa-miR-2277-3p	CLIP-seq
MIRT817471	hsa-miR-298	CLIP-seq
MIRT2180536	hsa-miR-3120-3p	CLIP-seq
MIRT2483884	hsa-miR-3138	CLIP-seq
MIRT817472	hsa-miR-3154	CLIP-seq
MIRT2483885	hsa-miR-3157-3p	CLIP-seq
MIRT817473	hsa-miR-3160-3p	CLIP-seq
MIRT817474	hsa-miR-3190	CLIP-seq
MIRT2483886	hsa-miR-3193	CLIP-seq
MIRT817475	hsa-miR-3202	CLIP-seq
MIRT2180537	hsa-miR-331-3p	CLIP-seq
MIRT2180538	hsa-miR-335	CLIP-seq
MIRT2180540	hsa-miR-3908	CLIP-seq
MIRT2483887	hsa-miR-3911	CLIP-seq
MIRT2180541	hsa-miR-3912	CLIP-seq
MIRT2180542	hsa-miR-3925-3p	CLIP-seq
MIRT2483888	hsa-miR-3937	CLIP-seq
MIRT2180543	hsa-miR-3942-5p	CLIP-seq
MIRT817482	hsa-miR-4271	CLIP-seq
MIRT2483889	hsa-miR-4290	CLIP-seq
MIRT2483890	hsa-miR-4306	CLIP-seq
MIRT2483891	hsa-miR-432	CLIP-seq
MIRT2483892	hsa-miR-4435	CLIP-seq
MIRT817485	hsa-miR-4487	CLIP-seq
MIRT817488	hsa-miR-4525	CLIP-seq
MIRT2483893	hsa-miR-4531	CLIP-seq
MIRT817489	hsa-miR-4533	CLIP-seq
MIRT2180546	hsa-miR-4539	CLIP-seq
MIRT2180547	hsa-miR-455-3p	CLIP-seq
MIRT2483894	hsa-miR-4636	CLIP-seq
MIRT2675888	hsa-miR-4637	CLIP-seq
MIRT2483895	hsa-miR-4644	CLIP-seq
MIRT2483896	hsa-miR-4650-5p	CLIP-seq
MIRT817490	hsa-miR-4665-5p	CLIP-seq
MIRT2180548	hsa-miR-4667-3p	CLIP-seq
MIRT2483897	hsa-miR-4693-3p	CLIP-seq
MIRT2180549	hsa-miR-4703-5p	CLIP-seq
MIRT817493	hsa-miR-4723-5p	CLIP-seq
MIRT817494	hsa-miR-4725-3p	CLIP-seq
MIRT2483898	hsa-miR-4734	CLIP-seq
MIRT817495	hsa-miR-4755-3p	CLIP-seq
MIRT2180550	hsa-miR-4766-3p	CLIP-seq
MIRT2483899	hsa-miR-4770	CLIP-seq
MIRT2483900	hsa-miR-4800-5p	CLIP-seq
MIRT2180551	hsa-miR-508-5p	CLIP-seq
MIRT2180552	hsa-miR-545	CLIP-seq
MIRT2483901	hsa-miR-549	CLIP-seq
MIRT817498	hsa-miR-556-5p	CLIP-seq
MIRT817499	hsa-miR-558	CLIP-seq
MIRT2675889	hsa-miR-570	CLIP-seq
MIRT2483902	hsa-miR-574-3p	CLIP-seq
MIRT2483903	hsa-miR-574-5p	CLIP-seq
MIRT2483904	hsa-miR-620	CLIP-seq
MIRT817500	hsa-miR-625	CLIP-seq
MIRT2483905	hsa-miR-636	CLIP-seq
MIRT2483906	hsa-miR-874	CLIP-seq

Show/Hide all(33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002474	Process	Antigen processing and presentation of peptide antigen via MHC class I	TAS
GO:0005515	Function	Protein binding	IPI	9334338, 15024066, 17500595, 18555783, 21183955, 25854864, 31206022, 32296183, 32814053
GO:0005739	Component	Mitochondrion	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	18555783, 19401338, 21183955, 24454821
GO:0005789	Component	Endoplasmic reticulum membrane	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005811	Component	Lipid droplet	IDA	14741744
GO:0005829	Component	Cytosol	TAS
GO:0005887	Component	Integral component of plasma membrane	IDA	8706661
GO:0006626	Process	Protein targeting to mitochondrion	IGI	31206022
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IBA	21873635
GO:0006915	Process	Apoptotic process	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IMP	21183955
GO:0007283	Process	Spermatogenesis	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016032	Process	Viral process	IEA
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0032471	Process	Negative regulation of endoplasmic reticulum calcium ion concentration	IMP	21183955
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	IEA
GO:0034976	Process	Response to endoplasmic reticulum stress	IDA	31206022
GO:0035584	Process	Calcium-mediated signaling using intracellular calcium source	IMP	21183955
GO:0042288	Function	MHC class I protein binding	IEA
GO:0043280	Process	Positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	21183955
GO:0044233	Component	Mitochondria-associated endoplasmic reticulum membrane	IDA	31206022
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0051561	Process	Positive regulation of mitochondrial calcium ion concentration	IMP	21183955
GO:0070973	Process	Protein localization to endoplasmic reticulum exit site	IBA	21873635
GO:0071556	Component	Integral component of lumenal side of endoplasmic reticulum membrane	TAS
GO:0097038	Component	Perinuclear endoplasmic reticulum	IDA	25854864
GO:1903071	Process	Positive regulation of ER-associated ubiquitin-dependent protein catabolic process	IGI	18555783
GO:1904154	Process	Positive regulation of retrograde protein transport, ER to cytosol	IDA	18555783
GO:2001244	Process	Positive regulation of intrinsic apoptotic signaling pathway	IMP	21183955

MIM	HGNC	e!Ensembl
300398	16695	ENSG00000185825

Protein

UniProt ID

P51572

Protein name

B-cell receptor-associated protein 31 (BCR-associated protein 31) (Bap31) (6C6-AG tumor-associated antigen) (Protein CDM) (p28)

Protein function

Functions as a chaperone protein (PubMed:18287538, PubMed:9396746). Is one of the most abundant endoplasmic reticulum (ER) proteins (PubMed:18287538, PubMed:9396746). Plays a role in the export of secreted proteins in the ER, the recognition of

PDB

4JZL , 4JZP , 8XWX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05529	Bap31	1 → 136	Bap31/Bap29 transmembrane region	Family
PF18035	Bap31_Bap29_C	179 → 246	Bap31/Bap29 cytoplasmic coiled-coil domain	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Highly expressed in neurons and discrete endocrine cells. {ECO:0000269|PubMed:11561007}.

Sequence

MSLQWTAVATFLYAEVFVVLLLCIPFISPKRWQKIFKSRLVELLVSYGNTFFVVLIVILV
LLVIDAVREIRKYDDVTEKVNLQNNPGAMEHFHMKLFRAQRNLYIAGFSLLLSFLLRRLV
TLISQQATLLASNEAFKKQAESASEAAKKYMEENDQLKKGAAVDGGKLDVGNAEVKLEEE
NRSLKADLQKLKDELASTKQKLEKAENQVLAMRKQSEGLTKEYDRLLEEHAKLQAAVDGP
MDKKEE

Sequence length

246

Interactions

View interactions

	KEGG		Reactome
	Protein processing in endoplasmic reticulum Human papillomavirus infection		Apoptotic cleavage of cellular proteins Apoptotic execution phase Antigen Presentation: Folding, assembly and peptide loading of class I MHC

Show/Hide Causal Diseases (7)

Disease term	Disease name	dbSNP ID	References
Causal
Deafness	DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION	rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822 View all (1019 more)	24011989
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Mental retardation	Severe intellectual disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	rs879255569, rs397515620, rs1057518721, rs1064794057, rs1557047954, rs1603223001
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text Mining
Brain Diseases	Associate	24011989
Breast Neoplasms	Associate	40649753
Carcinoma Hepatocellular	Stimulate	35449837
Carcinoma Hepatocellular	Associate	37108785
Carcinoma Non Small Cell Lung	Associate	32132574
Contiguous Abcd1 Dxs1375e Deletion Syndrome	Associate	31953925, 33603160
Deafness	Associate	24011989, 33603160
Death	Associate	33603160
Demyelinating Autoimmune Diseases CNS	Associate	33603160
Demyelinating Diseases	Associate	24011989, 33603160
Dystonia	Associate	24011989, 33603160
Esophageal Neoplasms	Associate	34257547
Genetic Diseases X Linked	Associate	24011989
Hearing Loss Sensorineural	Associate	24011989
Inflammation	Associate	40649753
Intellectual Disability	Associate	24011989, 33603160
Irritable Bowel Syndrome	Associate	33011346
Liver Diseases	Associate	33603160
Lymphoproliferative Syndrome X Linked 2	Associate	24011989
Mitochondrial Diseases	Associate	31953925
Neoplasm Metastasis	Associate	32132574
Neoplasms	Associate	25875127, 37296105, 40649753
Neoplasms	Stimulate	37108785
Neoplastic Syndromes Hereditary	Associate	24011989
Stomach Neoplasms	Associate	37296105, 40649753

BCAP31 (B cell receptor associated protein 31)