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.	51594
Gene name Gene Name - the full gene name approved by the HGNC.	NBAS subunit of NRZ tethering complex
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NBAS
Synonyms (NCBI Gene) Gene synonyms aliases	ILFS2, NAG, SOPH
Disease Acronyms (UniProt) Disease acronyms from UniProt database	ILFS2, SOPH
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p24.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic

Show/Hide all(31)

SNP ID	Visualize variation	Clinical significance	Consequence
rs75566418	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs140256463	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs143212851	A>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs143724414	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs199717686	T>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs201084909	T>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs368085185	G>A	Pathogenic	Non coding transcript variant, intron variant, missense variant, coding sequence variant, genic upstream transcript variant
rs368196005	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs369698072	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs370526257	G>A	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs748880753	T>C,G	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs759315662	->A	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs759960319	G>A,C	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, stop gained
rs761330483	G>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant, stop gained
rs764164808	A>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs770446752	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs776597537	C>G,T	Pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, intron variant
rs776797592	T>-,TT	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs796052121	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs796065037	TCA>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, inframe deletion
rs796065038	GAG>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, inframe deletion
rs1064795199	G>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs1064795471	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1085307944	C>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1131692171	G>A	Pathogenic	Non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1278049478	G>A,C	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant, stop gained
rs1553308501	A>C	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553348090	T>C	Likely-pathogenic	Splice acceptor variant
rs1553367857	G>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1572903776	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1573008071	C>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant

Show/Hide all(10)

miRTarBase ID	miRNA	Experiments	Reference
MIRT440142	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT440142	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT1174722	hsa-miR-4434	CLIP-seq
MIRT1174723	hsa-miR-4516	CLIP-seq
MIRT1174724	hsa-miR-4531	CLIP-seq
MIRT1174725	hsa-miR-4643	CLIP-seq
MIRT1174726	hsa-miR-466	CLIP-seq
MIRT1174727	hsa-miR-4789-3p	CLIP-seq
MIRT2050546	hsa-miR-4328	CLIP-seq
MIRT2050547	hsa-miR-582-5p	CLIP-seq

Show/Hide all(11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000149	Function	SNARE binding	IDA	19369418
GO:0000956	Process	Nuclear-transcribed mRNA catabolic process	IMP	23828042
GO:0005783	Component	Endoplasmic reticulum	IDA	19369418
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IMP	19369418
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	TAS
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0070939	Component	Dsl1/NZR complex	IDA	20462495
GO:2000623	Process	Negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP	23828042

MIM	HGNC	e!Ensembl
608025	15625	ENSG00000151779

Protein

UniProt ID

A2RRP1

Protein name

NBAS subunit of NRZ tethering complex (Neuroblastoma-amplified gene protein) (Neuroblastoma-amplified sequence)

Protein function

Involved in Golgi-to-endoplasmic reticulum (ER) retrograde transport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER (PubMed:19369418). Required for normal em

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15492	Nbas_N	90 → 371	Neuroblastoma-amplified sequence, N terminal	Family
PF08314	Sec39	726 → 1054	Secretory pathway protein Sec39	Family
PF08314	Sec39	1014 → 1376	Secretory pathway protein Sec39	Family

Tissue specificity

TISSUE SPECIFICITY: Broadly expressed, with highest levels in heart and skeletal muscle, and lowest levels in liver, small intestine and thymus. Well expressed in retinal ganglion cells, epidermal skin cells, and leukocytes. Up-regulated together with N-m

Sequence

MAAPESGPALSPGTAEGEEETILYDLLVNTEWPPETEVQPRGNQKHGASFIITKAIRDRL
LFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLASNGKLLAAVQDQCVEIRSAKDDFTS
IIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVISPASSFIGDLS
YAIAGLIFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHCFSFSSHYPHGIN
TAIYHPGHRLLLVGGCETAEVGMSKASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTL
GLLRMLSVKFYSRQGQEQDGIFKMSLSPDGMLLAAIHFSGKLSIWAIPSLKQQGEWGQNE
QPGYDDLNPDWRLSTEKRKKIKDKESFYPLIDVNWWADSAVTLARCSGALTVSSVKTLKN
LLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRLETRAGEEDEGEEDSDSDYEIS
AKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIESEEYE
EALSLAHTYGLDTDLVYQRQWRKSAVNVASIQNYLSKIKKRSWVLHECLERVPENVDAAK
ELLQYGLKGTDLEALLAIGKGADDGRFTLPGEIDIDSISYEELSPPDEEPAKNKKEKELK
KRQELLKLVNFSKLTLEQKELCRCRRKLLTYLDRLATYEEILGVPHASEQRYDAEFFKKF
RNQNIVLSARTYAQESNVQALEILFTYHGSDLLPHRLAILSNFPETTSPHEYSVLLPEAC
FNGDSLMIIPWHEHKHRAKDWCEELACRMVVEPNLQDESEFLYAAQPELLRFRMTQLTVE
KVMDWYQTRAEEIEHYARQVDCALSLIRLGMERNIPGLLVLCDNLVTLETLVYEARCDVT
LTLKELQQMKDIEKLRLLMNSCSEDKYVTSAYQWMVPFLHRCEKQSPGVANELLKEYLVT
LAKGDLKFPLKIFQHSKPDLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPE
RGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLT
RHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQ
MMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCL
QLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQST
KLLGLAELLRVAGENPEERRGQVLILLVEQALRFHDYKAASMHCQELMATGYPKSWDVCS
QLGQSEGYQDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFQIHHEGGEN
ISASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKK
SLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPV
ESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRC
FEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEA
WPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLAETLEE
SVYSIAISLAQRYSVSRWEVFMTHLEFLFTDSGLSTLEIENRAQDLHLFETLKTDPEAFH
QHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNY
KKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDP
HLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKLSVEARKEMTRK
AIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSE
QETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSA
IMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKGEELVSPEDLLEWLRPFCADDA
WPVRPRIHVLQILGQSFHLTEEDSKLLVFFRTEAILKASWPQRQVDIADIENEENRYCLF
MELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEV
LKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTT
VNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHE
AEAGSLLLAVRGTHQAFRTFSTALRAAQHWV

Sequence length

2371

Interactions

View interactions

	Reactome
			COPI-dependent Golgi-to-ER retrograde traffic

Show/Hide Causal Diseases (8)

Disease term	Disease name	dbSNP ID	References
Causal
Achromatopsia	Achromatopsia	rs121918344, rs267606739, rs397515360, rs121918537, rs121918538, rs786200908, rs796051871, rs121918539, rs387906401, rs267606936, rs786200909, rs786200910, rs267606934, rs267606937, rs267606935 View all (196 more)
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Cutis laxa	Cutis Laxa	rs80356758, rs80356750, rs119489101, rs119489102, rs193302865, rs121918374, rs121918375, rs1598354372, rs1371235353, rs1598358449, rs121918376, rs121918377, rs121918378, rs137854453, rs1797225811 View all (31 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)	27789416
Gastric cancer	Hereditary Diffuse Gastric Cancer	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802 View all (244 more)	21364753
Liver failure	Liver Failure, Acute, INFANTILE LIVER FAILURE SYNDROME 2	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116 View all (10 more)	26073778, 26286438, 28576691
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Short stature-optic atrophy-pelger-huet anomaly syndrome	Short stature-optic atrophy-Pelger-Hu�t anomaly syndrome	rs369698072, rs796052121, rs1131692171, rs776597537

Show/Hide Unknown Diseases (7)

Disease term	Disease name	Evidence	References	Source
Unknown
Mental depression	Major Depressive Disorder		29662059	ClinVar
Short Stature-Optic Atrophy-Pelger-Huet Anomaly Syndrome	short stature-optic atrophy-Pelger-Hu�t anomaly syndrome			GenCC
Conduct Disorder	Conduct Disorder			GWAS
Lung adenocarcinoma	Lung adenocarcinoma	Validation that loss of Tgfbr2 results in more aggressive and T cell-excluded KP lung tumors		GWAS, CBGDA
Metabolic Syndrome	Metabolic Syndrome			GWAS
Multiple Sclerosis	Multiple Sclerosis			GWAS
Restless Legs Syndrome	Restless Legs Syndrome			GWAS

Show/Hide Text Mining Associations (38)

Disease Name	Relationship Type	References
Associations from Text Mining
adult multisystem inflammatory disease COVID 19 related	Associate	34288298
Blood Coagulation Disorders	Associate	28629372
Body Dysmorphic Disorders	Associate	36479642
Carcinogenesis	Associate	40028213
Carcinoma Renal Cell	Associate	39838718
Chemical and Drug Induced Liver Injury	Associate	27789416, 28611345
Cone Dystrophy	Associate	36479642
COVID 19	Associate	36768954
Death	Associate	23621803
Developmental Disabilities	Associate	27789416
Diabetes Mellitus Type 2	Associate	28611345
Facial Dysmorphism with Multiple Malformations	Associate	34288298
Fever	Associate	26073778, 28611345, 28629372, 34427841
GATA2 Deficiency	Associate	34386911
Growth Disorders	Associate	20577004, 27789416, 34288298, 34386911, 36479642, 40215727
HEM dysplasia	Associate	34288298
Hyperammonemia	Associate	34427841
Immune System Diseases	Associate	34288298
Immunologic Deficiency Syndromes	Associate	27789416, 34386911, 35902954
Immunologic Deficiency Syndromes	Inhibit	40215727
Infections	Associate	34386911
Jaundice	Associate	28629372
Liver Diseases	Associate	28611345
Liver Failure	Associate	28611345, 28629372
Liver Failure Acute	Associate	26073778, 28629372, 28946922, 30845840, 33542026, 34288298, 34386911, 34427841, 35349761, 36479642
Lymphohistiocytosis Hemophagocytic	Associate	35902954
Microcephaly	Associate	34427841
Microphthalmia Syndromic 10	Associate	34427841
Multiple System Atrophy	Associate	34386911
Muscle Hypotonia	Associate	34427841
Neoplastic Syndromes Hereditary	Associate	20577004
Neuroblastoma	Associate	11464910, 23621803, 23991058, 27789416, 34427841, 36479642
Neuroectodermal Tumors Primitive Peripheral	Stimulate	10882752
Optic Atrophy	Associate	20577004, 27789416, 33270637, 36479642, 40215727
Osteogenesis Imperfecta	Associate	27789416, 33542026
Osteoporosis pseudoglioma syndrome	Associate	27789416
Pelger Huet Anomaly	Associate	20577004, 27789416, 34288298, 36479642, 40215727
Syndrome	Associate	27789416, 36479642

NBAS (NBAS subunit of NRZ tethering complex)