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	201294
Gene name	Unc-13 homolog D
Gene symbol	UNC13D
Synonyms (NCBI Gene)	FHL3HLH3HPLH3Munc13-4
Chromosome	17
Chromosome location	17q25.1
Summary	This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in

Show/Hide all (35)

SNP ID	Visualize variation	Clinical significance	Consequence
rs117221419	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs121434352	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs121434353	A>G	Pathogenic	Coding sequence variant, missense variant
rs121434354	A>C,T	Pathogenic	Coding sequence variant, missense variant
rs138760432	C>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs142335129	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs144968313	T>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs149871493	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201908137	C>A,T	Pathogenic	Splice donor variant
rs202020396	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs747169857	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs754621494	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs754882266	C>T	Likely-pathogenic	Splice donor variant
rs763117746	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs764196809	CCCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs765034513	C>T	Likely-pathogenic	Intron variant
rs766657895	G>A	Pathogenic	Coding sequence variant, stop gained
rs777759523	C>T	Pathogenic	Splice donor variant
rs796065024	AGCGCGCTGCAC>-	Pathogenic	Coding sequence variant, inframe deletion
rs796065025	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs796065026	->A	Pathogenic	Coding sequence variant, frameshift variant
rs910650073	T>C	Pathogenic	Splice acceptor variant
rs933702160	C>G	Pathogenic	Splice donor variant
rs959968589	G>A	Pathogenic	Intron variant
rs1157287613	G>A	Pathogenic	Coding sequence variant, stop gained
rs1165696705	C>G,T	Likely-pathogenic	Splice donor variant
rs1274685768	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1388957809	C>G	Likely-pathogenic	Splice acceptor variant
rs1555600214	C>T	Likely-pathogenic	Splice donor variant
rs1555601754	A>T	Pathogenic	Stop gained, coding sequence variant
rs1555601863	C>T	Likely-pathogenic	Splice acceptor variant
rs1567816070	->TCCA	Pathogenic	Frameshift variant, coding sequence variant
rs1567818219	ATCTCATGGC>TCGGACAAGGTA	Pathogenic	Frameshift variant, coding sequence variant
rs1567818774	G>A	Pathogenic	Stop gained, coding sequence variant
rs1599414759	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (68)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017327	hsa-miR-335-5p	Microarray	18185580
MIRT023568	hsa-miR-1-3p	Proteomics	18668040
MIRT032278	hsa-let-7b-5p	Proteomics	18668040
MIRT044594	hsa-miR-320a	CLASH	23622248
MIRT650869	hsa-miR-665	HITS-CLIP	23824327
MIRT650868	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT650867	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT650866	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT650865	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT650864	hsa-miR-4469	HITS-CLIP	23824327
MIRT650863	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT650862	hsa-miR-4287	HITS-CLIP	23824327
MIRT650861	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT650860	hsa-miR-1207-5p	HITS-CLIP	23824327
MIRT650859	hsa-miR-4763-3p	HITS-CLIP	23824327
MIRT650858	hsa-miR-4736	HITS-CLIP	23824327
MIRT650857	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT650856	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT650855	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT650854	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT650853	hsa-miR-7150	HITS-CLIP	23824327
MIRT650852	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT650869	hsa-miR-665	HITS-CLIP	23824327
MIRT650868	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT650867	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT650866	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT650865	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT650864	hsa-miR-4469	HITS-CLIP	23824327
MIRT650863	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT650862	hsa-miR-4287	HITS-CLIP	23824327
MIRT650861	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT650860	hsa-miR-1207-5p	HITS-CLIP	23824327
MIRT650859	hsa-miR-4763-3p	HITS-CLIP	23824327
MIRT650858	hsa-miR-4736	HITS-CLIP	23824327
MIRT650857	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT650856	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT650855	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT650854	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT650853	hsa-miR-7150	HITS-CLIP	23824327
MIRT650852	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT1475346	hsa-miR-1254	CLIP-seq
MIRT1475347	hsa-miR-1343	CLIP-seq
MIRT1475348	hsa-miR-1915	CLIP-seq
MIRT1475349	hsa-miR-3116	CLIP-seq
MIRT1475350	hsa-miR-3176	CLIP-seq
MIRT1475351	hsa-miR-361-3p	CLIP-seq
MIRT1475352	hsa-miR-3922-3p	CLIP-seq
MIRT1475353	hsa-miR-4436b-3p	CLIP-seq
MIRT1475354	hsa-miR-4645-5p	CLIP-seq
MIRT1475355	hsa-miR-4673	CLIP-seq
MIRT1475356	hsa-miR-4685-5p	CLIP-seq
MIRT1475357	hsa-miR-4701-5p	CLIP-seq
MIRT1475358	hsa-miR-516a-3p	CLIP-seq
MIRT1475359	hsa-miR-588	CLIP-seq
MIRT2143236	hsa-miR-1827	CLIP-seq
MIRT2143237	hsa-miR-1909	CLIP-seq
MIRT2143238	hsa-miR-3612	CLIP-seq
MIRT2143239	hsa-miR-3689a-3p	CLIP-seq
MIRT2143240	hsa-miR-3689c	CLIP-seq
MIRT2143241	hsa-miR-4728-5p	CLIP-seq
MIRT2143242	hsa-miR-650	CLIP-seq
MIRT2143243	hsa-miR-940	CLIP-seq
MIRT2363529	hsa-miR-129-3p	CLIP-seq
MIRT2363530	hsa-miR-3166	CLIP-seq
MIRT2363531	hsa-miR-4476	CLIP-seq
MIRT2363532	hsa-miR-4700-3p	CLIP-seq
MIRT2363533	hsa-miR-548g	CLIP-seq
MIRT2363534	hsa-miR-922	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002432	Process	Granuloma formation	IEA
GO:0002467	Process	Germinal center formation	IEA
GO:0005515	Function	Protein binding	IPI	15548590, 16278825, 25312756, 26627825, 33513601
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IDA	15548590
GO:0005764	Component	Lysosome	IEA
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006887	Process	Exocytosis	IEA
GO:0006909	Process	Phagocytosis	IEA
GO:0016020	Component	Membrane	IEA
GO:0031267	Function	Small GTPase binding	IDA	22899725
GO:0031267	Function	Small GTPase binding	IPI	22899725
GO:0033093	Component	Weibel-Palade body	IDA	22899725
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0043304	Process	Regulation of mast cell degranulation	IMP	15548590
GO:0043320	Process	Natural killer cell degranulation	IEA
GO:0045921	Process	Positive regulation of exocytosis	IMP	15548590, 19966785
GO:0046872	Function	Metal ion binding	IEA
GO:0046903	Process	Secretion	IBA
GO:0051607	Process	Defense response to virus	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0055037	Component	Recycling endosome	IEA
GO:0070382	Component	Exocytic vesicle	IBA
GO:0070382	Component	Exocytic vesicle	IDA	17237785
GO:1900026	Process	Positive regulation of substrate adhesion-dependent cell spreading	IEA
GO:1903307	Process	Positive regulation of regulated secretory pathway	IGI	22899725

MIM	HGNC	e!Ensembl
608897	23147	ENSG00000092929

Q70J99

Protein name

Protein unc-13 homolog D (Munc13-4)

Protein function

Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse. Regulates assembly of recycling and late endosomal structures, leading to the formation

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00168	C2	112 → 263	C2 domain	Domain
PF10540	Membr_traf_MHD	830 → 894	Munc13 (mammalian uncoordinated) homology domain	Domain
PF00168	C2	925 → 1039	C2 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed at high levels in spleen, thymus and leukocytes. Also expressed in lung and placenta, and at very low levels in brain, heart, skeletal muscle and kidney. Expressed in cytotoxic T-lymphocytes (CTL) and mast cells. {ECO:0000269

Sequence

MATLLSHPQQRPPFLRQAIKIRRRRVRDLQDPPPQMAPEIQPPSHHFSPEQRALLYEDAL
YTVLHRLGHPEPNHVTEASELLRYLQEAFHVEPEEHQQTLQRVRELEKPIFCLKATVKQA
KGILGKDVSGFSDPYCLLGIEQGVGVPGGSPGSRHRQKAVVRHTIPEEETHRTQVITQTL
NPVWDETFILEFEDITNASFHLDMWDLDTVESVRQKLGELTDLHGLRRIFKEARKDKGQD
DFLGNVVLRLQDLRCREDQWYPLEPRTETYPDRGQCHLQFQLIHKRRATSASRSQPSYTV
HLHLLQQLVSHEVTQHEAGSTSWDGSLSPQAATVLFLHATQKDLSDFHQSMAQWLAYSRL
YQSLEFPSSCLLHPITSIEYQWIQGRLKAEQQEELAASFSSLLTYGLSLIRRFRSVFPLS
VSDSPARLQSLLRVLVQMCKMKAFGELCPNTAPLPQLVTEALQTGTTEWFHLKQQHHQPM
VQGIPEAGKALLGLVQDVIGDLHQCQRTWDKIFHNTLKIHLFSMAFRELQWLVAKRVQDH
TTVVGDVVSPEMGESLFQLYISLKELCQLRMSSSERDGVLALDNFHRWFQPAIPSWLQKT
YNEALARVQRAVQMDELVPLGELTKHSTSAVDLSTCFAQISHTARQLDWPDPEEAFMITV
KFVEDTCRLALVYCSLIKARARELSSGQKDQGQAANMLCVVVNDMEQLRLVIGKLPAQLA
WEALEQRVGAVLEQGQLQNTLHAQLQSALAGLGHEIRTGVRTLAEQLEVGIAKHIQKLVG
VRESVLPEDAILPLMKFLEVELCYMNTNLVQENFSSLLTLLWTHTLTVLVEAAASQRSSS
LASNRLKIALQNLEICFHAEGCGLPPKALHTATFQALQRDLELQAASSRELIRKYFCSRI
QQQAETTSEELGAVTVKASYRASEQKLRVELLSASSLLPLDSNGSSDPFVQLTLEPRHEF
PELAARETQKHKKDLHPLFDETFEFLVPAEPCRKAGACLLLTVLDYDTLGADDLEGEAFL
PLREVPGLSGSEEPGEVPQTRLPLTYPAPNGDPILQLLEGRKGDREAQVFVRLRRHRAKQ
ASQHALRPAP

Sequence length

1090

Interactions

View interactions

	Reactome
			Neutrophil degranulation

1690

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autoinflammatory syndrome	Likely pathogenic; Pathogenic	rs754205110, rs755348845, rs769243366, rs747180228, rs2143878241, rs868318523, rs1418183549, rs1446115570, rs2143860891, rs770325118, rs777759523, rs121434352, rs766657895, rs764196809, rs1274685768	RCV002264288 RCV002264425 RCV002264436 RCV002264549 RCV002264550 RCV002264552 RCV002264553 RCV002264555 RCV002264560 RCV002264563 RCV002262537 RCV002262538 RCV002263024 RCV002263696 RCV002263969
Colon adenocarcinoma	Pathogenic	rs777759523	RCV005887201
Familial cancer of breast	Likely pathogenic; Pathogenic	rs754205110	RCV005912632
Familial hemophagocytic lymphohistiocytosis	Likely pathogenic; Pathogenic	rs1048876742, rs201908137, rs121434353, rs2545985543, rs2545987351, rs768171054, rs2064960622, rs764196809, rs754621494, rs959968589, rs1157287613, rs1041960684	RCV004782841 RCV006268065 RCV005430913 RCV004700877 RCV003226617 RCV005063026 RCV005240958 RCV004767293 RCV001778988 RCV002265832 RCV002298791 RCV005438053
Familial hemophagocytic lymphohistiocytosis 3	Pathogenic; Likely pathogenic	rs775862197, rs1163596220, rs2143876026, rs1422897832, rs766615729, rs754205110, rs2143892028, rs943094444, rs1234936765, rs2143904721, rs1019391145, rs753990040, rs2143861305, rs2064882892, rs2143893153 View all (123 more)	RCV001383120 RCV001380034 RCV001388109 RCV001386311 RCV001388111 RCV001383010 RCV001390033 RCV001388009 RCV001388110 RCV001380129 RCV001728113 RCV001728114 RCV001785112 RCV001785113 RCV001808212 RCV003603109 RCV001920466 RCV001990613 RCV001925554 RCV002050018 RCV001950836 RCV001946711 RCV001977787 RCV001942001 RCV001911512 RCV002046853 RCV001914052 RCV002251040 RCV003603116 RCV003497947 RCV000002073 RCV000002074 RCV000002075 RCV000002076 RCV000002077 RCV000002078 RCV000002079 RCV000002080 RCV003064490 RCV003064491 RCV003050492 RCV003100236 RCV003100237 RCV002592039 RCV002632467 RCV002585605 RCV002870781 RCV002871978 RCV002976595 RCV003028825 RCV003037544 RCV003052402 RCV003340976 RCV003498034 RCV003498095 RCV003498952 RCV003498931 RCV003498942 RCV003499130 RCV003499118 RCV003497338 RCV003497339 RCV003497340 RCV003497341 RCV003497342 RCV003497343 RCV003497344 RCV003497345 RCV003497346 RCV003497691 RCV003497704 RCV003498549 RCV003498424 RCV003497803 RCV003498721 RCV003603400 RCV003604081 RCV003604061 RCV003604067 RCV003604131 RCV003604237 RCV003604409 RCV003604426 RCV003604260 RCV003604314 RCV003604453 RCV003604741 RCV003604737 RCV003604830 RCV003604909 RCV003604973 RCV003604906 RCV003604769 RCV003604963 RCV003604796 RCV003604933 RCV003602580 RCV003602605 RCV003602601 RCV003602693 RCV003602730 RCV003603985 RCV003832840 RCV003848326 RCV003843030 RCV003859742 RCV003875833 RCV003874877 RCV000323586 RCV001861424 RCV000524829 RCV000509013 RCV000509027 RCV003497856 RCV000640104 RCV000640100 RCV000640096 RCV000704492 RCV000695218 RCV000690614 RCV000691140 RCV000686295 RCV000778518 RCV000822959 RCV000792676 RCV000806924 RCV000801425 RCV002549658 RCV001728095 RCV000991403 RCV001040939 RCV001051810 RCV001053702 RCV001038504 RCV001090162 RCV001215390 RCV001215391 RCV001210685 RCV001218863 RCV001240977 RCV001248651 RCV003497919
Malignant tumor of esophagus	Likely pathogenic; Pathogenic	rs754205110	RCV005912633
See cases	Likely pathogenic; Pathogenic	rs764507196	RCV002252331
UNC13D-related disorder	Likely pathogenic; Pathogenic	rs866629962, rs1048876742, rs121434352	RCV004746549 RCV003408039 RCV004745140

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Likely benign	rs374031487	RCV005924294
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs200109035	RCV005907296
Intellectual disability	Conflicting classifications of pathogenicity	rs113861754, rs144744401	RCV005625608 RCV005626170
Lung cancer	Uncertain significance	rs149099554	RCV005894673
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs17581728, rs889647946	RCV005894398 RCV005931418
Malignant tumor of urinary bladder	Uncertain significance	rs200661413	RCV005926424
Melanoma	Uncertain significance	rs751058445	RCV005901719
Ovarian serous cystadenocarcinoma	Likely benign; Conflicting classifications of pathogenicity	rs2545988573, rs747390615	RCV005934807 RCV005894672
Uterine carcinosarcoma	Benign; Uncertain significance	rs17581728, rs539360933	RCV005894399 RCV005908965

Show/Hide Text Mining Associations (38)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arthritis Juvenile	Associate	18240215, 18759271, 25047945, 29409136
Autoimmune Lymphoproliferative Syndrome	Associate	23840885
Chediak Higashi Syndrome	Associate	25425525
Compassion Fatigue	Stimulate	32375849
COVID 19	Associate	33867526
Cytokine Release Syndrome	Associate	33867526
Dental Plaque	Associate	26377049
Dianzani autoimmune lymphoproliferative syndrome	Associate	23840885
Drug Related Side Effects and Adverse Reactions	Associate	18492689, 24842371, 30758854
Dykes Markes Harper syndrome	Associate	32245292
Epstein Barr Virus Infections	Associate	24935083
Fever	Associate	21248318, 32245292
Genetic Diseases Inborn	Associate	17785771
Griscelli syndrome type 1	Associate	25312756
Griscelli syndrome type 2	Associate	19704116
Hemophagocytic lymphohistiocytosis familial 3	Associate	18492689, 19704116, 21248318, 21931115, 24842371, 29409136, 32582217, 36401200, 38212754
Hemorrhage	Associate	28399723
Immune System Diseases	Associate	37325673
Immunologic Deficiency Syndromes	Associate	19704116, 31562900, 32245292
Leukemia	Associate	21370424
Leukemia Lymphoid	Associate	29599780, 33658321
Leukemia Myeloid Acute	Associate	21370424
Liver Failure	Associate	24935083
Lymphohistiocytosis Hemophagocytic	Associate	14622600, 15466010, 15632205, 16778144, 16825436, 17525286, 17785771, 18240215, 18311812, 18492689, 18710388, 18759271, 19884660, 20015888, 20823128 View all (41 more)
Lymphoma	Associate	30758854
Lymphoma Non Hodgkin	Associate	33658321
Lymphoma T Cell Peripheral	Associate	38183241
Macrophage Activation Syndrome	Associate	18240215, 18759271, 25047945, 29409136, 36016321
Moyamoya Disease	Associate	35197088
Multiple Sclerosis	Associate	23840885
Muscular dystrophy congenital with central nervous system involvement	Associate	21248318
Neoplasms	Associate	16778144
Neutrophil Immunodeficiency Syndrome	Associate	35197088
Pancreatic Neoplasms	Associate	39210440
Primary Immunodeficiency Diseases	Associate	20823128, 24842371, 33867526, 38644452
Respiratory System Abnormalities	Associate	18240215
Splenomegaly	Associate	21248318
Thrombocytopenia	Associate	21248318

UNC13D (unc-13 homolog D)