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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23312
Gene name	Dmx like 2
Gene symbol	DMXL2
Synonyms (NCBI Gene)	DEE81DFNA71EIEE81PEPNSRC3
Chromosome	15
Chromosome location	15q21.2
Summary	This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in regulation of the Notch signaling pathway has been dem

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs75378828	G>C,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs372749193	G>A,C	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs606231461	TCCATTGCCATCACT>-	Pathogenic	Inframe deletion, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs754786373	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1595908479	C>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant, intron variant
rs1595955503	->TAATCATG	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596016716	G>C,T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, intron variant

108

Show/Hide all (108)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028846	hsa-miR-26b-5p	Microarray	19088304
MIRT031117	hsa-miR-19b-3p	Sequencing	20371350
MIRT140253	hsa-miR-205-5p	HITS-CLIP	22473208
MIRT140246	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT031117	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT140253	hsa-miR-205-5p	HITS-CLIP	22473208
MIRT939461	hsa-miR-33a	CLIP-seq
MIRT939462	hsa-miR-33b	CLIP-seq
MIRT939463	hsa-miR-4325	CLIP-seq
MIRT939464	hsa-miR-507	CLIP-seq
MIRT939465	hsa-miR-513a-3p	CLIP-seq
MIRT939466	hsa-miR-557	CLIP-seq
MIRT939467	hsa-miR-105	CLIP-seq
MIRT939468	hsa-miR-1257	CLIP-seq
MIRT939469	hsa-miR-181a	CLIP-seq
MIRT939470	hsa-miR-181b	CLIP-seq
MIRT939471	hsa-miR-181c	CLIP-seq
MIRT939472	hsa-miR-181d	CLIP-seq
MIRT939473	hsa-miR-190	CLIP-seq
MIRT939474	hsa-miR-190b	CLIP-seq
MIRT939475	hsa-miR-19a	CLIP-seq
MIRT939476	hsa-miR-19b	CLIP-seq
MIRT939477	hsa-miR-216a	CLIP-seq
MIRT939478	hsa-miR-216b	CLIP-seq
MIRT939479	hsa-miR-23a	CLIP-seq
MIRT939480	hsa-miR-23b	CLIP-seq
MIRT939481	hsa-miR-23c	CLIP-seq
MIRT939482	hsa-miR-3121-3p	CLIP-seq
MIRT939483	hsa-miR-3143	CLIP-seq
MIRT939484	hsa-miR-3148	CLIP-seq
MIRT939485	hsa-miR-3613-3p	CLIP-seq
MIRT939486	hsa-miR-371-5p	CLIP-seq
MIRT939487	hsa-miR-371b-5p	CLIP-seq
MIRT939488	hsa-miR-4262	CLIP-seq
MIRT939489	hsa-miR-4274	CLIP-seq
MIRT939490	hsa-miR-4307	CLIP-seq
MIRT939491	hsa-miR-4427	CLIP-seq
MIRT939492	hsa-miR-4511	CLIP-seq
MIRT939493	hsa-miR-4519	CLIP-seq
MIRT939494	hsa-miR-455-3p	CLIP-seq
MIRT939495	hsa-miR-4639-5p	CLIP-seq
MIRT939496	hsa-miR-4680-3p	CLIP-seq
MIRT939497	hsa-miR-4762-3p	CLIP-seq
MIRT939498	hsa-miR-4773	CLIP-seq
MIRT939499	hsa-miR-4797-3p	CLIP-seq
MIRT939500	hsa-miR-543	CLIP-seq
MIRT939501	hsa-miR-548ac	CLIP-seq
MIRT939502	hsa-miR-548ae	CLIP-seq
MIRT939503	hsa-miR-548aj	CLIP-seq
MIRT939504	hsa-miR-548am	CLIP-seq
MIRT939505	hsa-miR-548b-3p	CLIP-seq
MIRT939506	hsa-miR-548d-3p	CLIP-seq
MIRT939507	hsa-miR-548x	CLIP-seq
MIRT939508	hsa-miR-548z	CLIP-seq
MIRT939509	hsa-miR-579	CLIP-seq
MIRT939510	hsa-miR-664	CLIP-seq
MIRT939511	hsa-miR-944	CLIP-seq
MIRT1977890	hsa-miR-1256	CLIP-seq
MIRT1977891	hsa-miR-140-3p	CLIP-seq
MIRT1977892	hsa-miR-186	CLIP-seq
MIRT1977893	hsa-miR-3919	CLIP-seq
MIRT1977894	hsa-miR-4528	CLIP-seq
MIRT1977895	hsa-miR-4659a-3p	CLIP-seq
MIRT1977896	hsa-miR-4659b-3p	CLIP-seq
MIRT1977897	hsa-miR-4699-3p	CLIP-seq
MIRT1977898	hsa-miR-4775	CLIP-seq
MIRT2213282	hsa-miR-1205	CLIP-seq
MIRT939468	hsa-miR-1257	CLIP-seq
MIRT939469	hsa-miR-181a	CLIP-seq
MIRT939470	hsa-miR-181b	CLIP-seq
MIRT939471	hsa-miR-181c	CLIP-seq
MIRT939472	hsa-miR-181d	CLIP-seq
MIRT2213283	hsa-miR-3977	CLIP-seq
MIRT2213284	hsa-miR-421	CLIP-seq
MIRT939488	hsa-miR-4262	CLIP-seq
MIRT2213285	hsa-miR-4272	CLIP-seq
MIRT2213286	hsa-miR-4418	CLIP-seq
MIRT2213287	hsa-miR-4493	CLIP-seq
MIRT2213288	hsa-miR-4709-5p	CLIP-seq
MIRT2213289	hsa-miR-509-3-5p	CLIP-seq
MIRT2213290	hsa-miR-509-5p	CLIP-seq
MIRT939500	hsa-miR-543	CLIP-seq
MIRT939509	hsa-miR-579	CLIP-seq
MIRT939469	hsa-miR-181a	CLIP-seq
MIRT939470	hsa-miR-181b	CLIP-seq
MIRT939471	hsa-miR-181c	CLIP-seq
MIRT939472	hsa-miR-181d	CLIP-seq
MIRT939473	hsa-miR-190	CLIP-seq
MIRT939474	hsa-miR-190b	CLIP-seq
MIRT2517041	hsa-miR-193a-3p	CLIP-seq
MIRT2517042	hsa-miR-193b	CLIP-seq
MIRT2517043	hsa-miR-203	CLIP-seq
MIRT939477	hsa-miR-216a	CLIP-seq
MIRT939483	hsa-miR-3143	CLIP-seq
MIRT939488	hsa-miR-4262	CLIP-seq
MIRT2517044	hsa-miR-4701-5p	CLIP-seq
MIRT939500	hsa-miR-543	CLIP-seq
MIRT939509	hsa-miR-579	CLIP-seq
MIRT2517045	hsa-miR-582-3p	CLIP-seq
MIRT2517046	hsa-miR-588	CLIP-seq
MIRT939510	hsa-miR-664	CLIP-seq
MIRT939511	hsa-miR-944	CLIP-seq
MIRT2517041	hsa-miR-193a-3p	CLIP-seq
MIRT2517042	hsa-miR-193b	CLIP-seq
MIRT939477	hsa-miR-216a	CLIP-seq
MIRT2517044	hsa-miR-4701-5p	CLIP-seq
MIRT2517045	hsa-miR-582-3p	CLIP-seq
MIRT2517046	hsa-miR-588	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0007035	Process	Vacuolar acidification	IBA
GO:0008021	Component	Synaptic vesicle	IDA	11809763
GO:0016020	Component	Membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031267	Function	Small GTPase binding	IDA	11809763
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0043291	Component	RAVE complex	IBA
GO:0045202	Component	Synapse	IEA
GO:0098992	Component	Neuronal dense core vesicle	IEA

MIM	HGNC	e!Ensembl
612186	2938	ENSG00000104093

Q8TDJ6

Protein name

DmX-like protein 2 (Rabconnectin-3)

Protein function

May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles (PubMed:11809763). Plays a role in the brain as a key controller of neuronal and endocrine homeostatic processes (By similarity). {ECO:0000250|UniProtKB:Q8BPN8, ECO:0000269

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12234	Rav1p_C	1122 → 1425	RAVE protein 1 C terminal	Family
PF12234	Rav1p_C	1438 → 1904	RAVE protein 1 C terminal	Family
PF00400	WD40	2932 → 2970	WD domain, G-beta repeat	Repeat

Sequence

MHLHQVLTGAVNPGDNCYSVGSVGDVPFTAYGSGCDIVILANDFECVQIIPGAKHGNIQV
SCVECSNQQGRIAASYGNAVCIFEPLGINSHKRNCQLKCQWLKTGQFFLSSVTYNLAWDP
QDNRLLTATDSIQLWAPPGDDILEEEEEIDNTVPPVLNDWKCVWQCKTSVSVHLMEWSPD
GEYFATAGKDDCLLKVWYPMTGWKSSIIPQDHHEVKRRQSSTQFSFVYLAHPRAVTGFSW
RKTSKYMPRGSVCNVLLTSCHDGVCRLWAETLLPEDCLLGEQICETTTSSIASSLSHAGR
HKDRIQHALETIHHLKNLRKGQRRSSVLVTHAELMPDQTAMHEVQRHISHHANALCHFHI
AASINPATDIPNVLVGTAFNVDDGNGGFVVHWLNNKEFHFTSSTEVFMHQLRKLSDKQVD
HENDDADREDEEHSQEDRERGLHMKLDHDLSLDRESEAGTGSSEHEDGEREGSPRTYSRL
SVPMPLPTVLLDRKIETLLTEWNKNPDMLFTIHPVDGTFLVWHVKYLDEYNPGIFRQVQV
SFSSRIPVAFPSGDASSLSKNIMMYACINATKDSHHTLLHQEGMSVGSPHGSQPHSRSHS
THMNILAPTVMMISKHIDGSLNQWAVTFADKSAFTTVLTVSHKFRYCGHRFHLNDLACHS
VLPLLLTSSHHNALLTPELDCQWDSDNKLSRLMDPVKHIKGSSKQPLRNAATRTFHDPNA
IYSELILWRVDPIGPLSYTGGVSELARINSLHTSAFSNVAWLPTLIPSYCLGTYCNSASA
CFVASDGKNLRLYQAVVDARKLLDELSDPESSKLIGEVFNIVSQQSTARPGCIIELDAIT
NQCGSNTQLLHVFQEDFIIGYKPHKEDMEKKETEIFFQPSQGYRPPPFSEKFFLVVIEKD
SNNNSILHMWHLHLKSVQACLAKASEGASSESLLSVPGQKNVDSSPETSPSVSPMPHSSS
IANLQTASKLILSSRLVYSQPLDLPESVEVIRATPSAGHLSSSSIYPVCLAPYLVVTTCS
DNKVRFWKCCMEANPECNKSDEKEIYHWKRWPLMNDEGEDNSSTVSIVGRPVAVSCSYTG
RLAVAYKQPIHHNGFVSKEFSMHVCIFECESTGGSEWVLEQTIHLDDLVKVGSVLDSRVS
VDSNLFVYSKSDALLSKDRYLIPNIKHLVHLDWVSKEDGSHILTVGVGANIFMYGRLSGI
VTEQTNSKDGVAVITLPLGGSIKQGVKSRWVLLRSIDLVSSVDGTPSLPVSLSWVRDGIL
VVGMDCEMHVYAQWKHAVKFGDTEADSSNAEEAAMQDHSTFKSNMLARKSVVEGTAISDD
VFCSPTVIQDGGLFEAAHVLSPTLPQYHPTQLLELMDLGKVRRAKAILSHLVKCIAGEVA
IVRDPDAGEGTKRHLSRTISVSGSTAKETVTVGKDGTRDYTEIDSIPPLPLYALLAADQD
TSYRISEESTKIPQSYEDQTVSQPEDQYSELFQIQDIPTDDIDLEPEKRENKSKVINLSQ
YGPAYFGQEHARVLSSHLMHSSLPGLTRLEQMFLVALADTVATTSTELDESRDKSCSGRD
TLDECGLRYLLAMRLHTCLLTSLPPLYRVQLLHQGVSTCHFAWAFHSEAEEELINMIPAI
QRGDPQWSELRAMGIGWWVRNINTLRRCIEKVAKASFQRNNDALDAALFYLSMKKKAVVW
GLFRSQHDEKMTTFFSHNFNEDRWRKAALKNAFSLLGKQRFEQSAAFFLLAGSLKDAIEV
CLEKMEDIQLAMVIARLYESEFETSSTYISILNQKILGCQKDGSGFSCKRLHPDPFLRSL
AYWVMKDYTRALDTLLEQTPKEDDEHQVIIKSCNPVAFSFYNYLRTHPLLIRRNLASPEG
TLATLGLKTEKNFVDKINLIERKLFFTTANAHFKVGCPVLALEVLSKIPKVTKTSALSAK
KDQPDFISHRMDDVPSHSKALSDGNGSSGIEWSNVTSSQYDWSQPIVKVDEEPLNLDWGE
DHDSALDEEEDDAVGLVMKSTDAREKDKQSDQKASDPNMLLTPQEEDDPEGDTEVDVIAE
QLKFRACLKILMTELRTLATGYEVDGGKLRFQLYNWLEKEIAALHEICNHESVIKEYSSK
TYSKVESDLLDQEEMVDKPDIGSYERHQIERRRLQAKREHAERRKSWLQKNQDLLRVFLS
YCSLHGAQGGGLASVRMELKFLLQESQQETTVKQLQSPLPLPTTLPLLSASIASTKTVIA
NPVLYLNNHIHDILYTIVQMKTPPHPSIEDVKVHTLHSLAASLSASIYQALCDSHSYSQT
EGNQFTGMAYQGLLLSDRRRLRTESIEEHATPNSSPAQWPGVSSLINLLSSAQDEDQPKL
NILLCEAVVAVYLSLLIHALATNSSSELFRLAAHPLNNRMWAAVFGGGVKLVVKPRRQSE
NISAPPVLSEDIDKHRRRFNMRMLVPGRPVKDATPPPVPAERPSYKEKFIPPELSMWDYF
VAKPFLPLSDSGVIYDSDESIHSDEEDDAFFSDTQIQEHQDPNSYSWALLHLTMVKLALH
NVKNFFPIAGLEFSELPVTSPLGIAVIKNLENWEQILQEKMDQFEGPPPNYINTYPTDLS
VGAGPAILRNKAMLEPENTPFKSRDSSAFPVKRLWHFLVKQEVLQETFIRYIFTKKRKQS
EVEADLGYPGGKAKVIHKESDMIMAFSVNKANCNEIVLASTHDVQELDVTSLLACQSYIW
IGEEYDRESKSSDDVDYRGSTTTLYQPSATSYSASQVHPPSSLPWLGTGQTSTGASVLMK
RNLHNVKRMTSHPVHQYYLTGAQDGSVRMFEWTRPQQLVCFRQAGNARVTRLYFNSQGNK
CGVADGEGFLSIWQVNQTASNPKPYMSWQCHSKATSDFAFITSSSLVATSGHSNDNRNVC
LWDTLISPGNSLIHGFTCHDHGATVLQYAPKQQLLISGGRKGHVCIFDIRQRQLIHTFQA
HDSAIKALALDPYEEYFTTGSAEGNIKVWRLTGHGLIHSFKSEHAKQSIFRNIGAGVMQI
DIIQGNRLFSCGADGTLKTRVLPNAFNIPNRILDIL

Sequence length

3036

Interactions

View interactions

	KEGG
	Lysosome

222

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy, 81	Pathogenic; Likely pathogenic	rs1596016716, rs2548486231, rs1595955503, rs372749193, rs1595908479	RCV000856588 RCV004556965 RCV000856587 RCV000856589 RCV000856590 RCV000856591
DMXL2-related disorder	Likely pathogenic; Pathogenic	rs1325372369	RCV005230533
Hearing loss, autosomal dominant 71	Pathogenic	rs2140933776	RCV001376159

Show/Hide Unknown Diseases (24)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity	rs34998785, rs758539671, rs35349640	RCV005916558 RCV005930552 RCV005909887
Amenorrhea	Uncertain significance	rs772129232, rs757537450	RCV001849761 RCV001849762
Autism spectrum disorder	association	rs1416564508	RCV001291502
Cervical cancer	Benign	rs35349640	RCV005909889
Clear cell carcinoma of kidney	Benign	rs34998785, rs35349640	RCV005916560 RCV005909890
Colon adenocarcinoma	Benign	rs3078066	RCV005869946
Gastric cancer	Benign; Likely benign	rs78240149, rs746074258	RCV005913045 RCV005870964
Hearing impairment	Likely benign	rs929185965	RCV001375446
Hepatocellular carcinoma	Benign; Uncertain significance	rs34998785, rs12101858, rs781495241	RCV005916559 RCV005924510 RCV005923956
Lung cancer	Benign; Likely benign	rs78240149	RCV005913048
Malignant lymphoma, large B-cell, diffuse	Benign	rs34998785, rs12101858, rs16964357	RCV005916561 RCV005924511 RCV005921931
Melanoma	Uncertain significance; Benign; Likely benign	rs769142765, rs78240149	RCV005930539 RCV005913047
Nonpapillary renal cell carcinoma	Benign	rs35349640	RCV005909888
Nonsyndromic genetic hearing loss	Uncertain significance; Conflicting classifications of pathogenicity	rs772129232, rs149014761, rs148766950, rs202154593, rs530791761, rs750677458	RCV005361755 RCV005361805 RCV005361920 RCV005361765 RCV005356286 RCV005356303
Ovarian serous cystadenocarcinoma	Uncertain significance; Likely benign; Benign	rs745532251, rs147864837, rs35349640	RCV005925522 RCV005926606 RCV005909892
Pituitary stalk interruption syndrome	Uncertain significance	rs1353311164	RCV003330175
Polyendocrine-polyneuropathy syndrome	Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign	rs1438220307, rs2039022160, rs12592889, rs2278989, rs11291027, rs12904173, rs6493514, rs7165887, rs17524906, rs10706765, rs17524750, rs10851500, rs12102203, rs2278990, rs376728796 View all (11 more)	RCV001331789 RCV001335751 RCV001658255 RCV001658324 RCV002501977 RCV001658339 RCV001658358 RCV001658365 RCV001658379 RCV001661438 RCV001661441 RCV001661444 RCV001661447 RCV001661450 RCV002506986 RCV002507728 RCV005006195 RCV002272544 RCV000148930 RCV004820925 RCV004820926 RCV003989781 RCV005002909 RCV003989421 RCV002489372 RCV002507575
Sarcoma	Benign	rs35349640	RCV005909891
See cases	Uncertain significance; Conflicting classifications of pathogenicity	rs2140235964, rs2141216461, rs606231461	RCV002252522 RCV002252596 RCV002252004
Spasticity	Uncertain significance	rs1438220307	RCV002284217
Thymoma	Benign; Likely benign	rs78240149	RCV005913046
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs377682060, rs745532251	RCV005924032 RCV005925523
Uterine carcinosarcoma	Benign	rs34998785, rs16964357	RCV005916562 RCV005921932
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs151096557, rs114516513	RCV005925735 RCV005913190

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autism Spectrum Disorder	Associate	30732576
Behcet Syndrome	Associate	36226612
Breast Neoplasms	Associate	26093085
Developmental Disabilities	Associate	30732576
Hearing Loss	Associate	33715530
Idiopathic Hypogonadotropic Hypogonadism	Associate	33208564, 36700485
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	38283355
Lung Neoplasms	Associate	37544338
Nonsyndromic Deafness	Associate	33715530
Nonsyndromic sensorineural hearing loss	Associate	33715530

DMXL2 (Dmx like 2)