TRAF7 (TNF receptor associated factor 7)

Gene

• Entrez ID: 84231
• Gene name: TNF receptor associated factor 7
• Gene symbol: TRAF7
• Synonyms: CAFDADD, RFWD1, RFWD1 RNF119, RNF119
• Chromosome: 16
• Chromosome location: 16p13.3
• Summary: Tumor necrosis factor (TNF; see MIM 191160) receptor-associated factors, such as TRAF7, are signal transducers for members of the TNF receptor superfamily (see MIM 191190). TRAFs are composed of an N-terminal cysteine/histidine-rich region containing zinc

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1331463984	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1567252467	A>G,T	Pathogenic	Missense variant, stop gained, non coding transcript variant, coding sequence variant
rs1567252659	C>G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1567254067	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052480	hsa-let-7a-5p	CLASH	23622248
MIRT042237	hsa-miR-484	CLASH	23622248
MIRT714201	hsa-miR-3127-3p	HITS-CLIP	19536157
MIRT714200	hsa-miR-6756-3p	HITS-CLIP	19536157
MIRT714199	hsa-miR-370-3p	HITS-CLIP	19536157
MIRT714198	hsa-miR-6893-3p	HITS-CLIP	19536157
MIRT714197	hsa-miR-3667-3p	HITS-CLIP	19536157
MIRT714196	hsa-miR-6511a-3p	HITS-CLIP	19536157
MIRT714195	hsa-miR-6511b-3p	HITS-CLIP	19536157
MIRT714194	hsa-miR-6784-3p	HITS-CLIP	19536157
MIRT714193	hsa-miR-6862-3p	HITS-CLIP	19536157
MIRT714192	hsa-miR-626	HITS-CLIP	19536157
MIRT714191	hsa-miR-6876-3p	HITS-CLIP	19536157
MIRT714190	hsa-miR-6802-3p	HITS-CLIP	19536157
MIRT714189	hsa-miR-1229-3p	HITS-CLIP	19536157
MIRT714188	hsa-miR-3074-5p	HITS-CLIP	19536157
MIRT714201	hsa-miR-3127-3p	HITS-CLIP	19536157
MIRT714200	hsa-miR-6756-3p	HITS-CLIP	19536157
MIRT714199	hsa-miR-370-3p	HITS-CLIP	19536157
MIRT714198	hsa-miR-6893-3p	HITS-CLIP	19536157
MIRT714197	hsa-miR-3667-3p	HITS-CLIP	19536157
MIRT714196	hsa-miR-6511a-3p	HITS-CLIP	19536157
MIRT714195	hsa-miR-6511b-3p	HITS-CLIP	19536157
MIRT714194	hsa-miR-6784-3p	HITS-CLIP	19536157
MIRT714193	hsa-miR-6862-3p	HITS-CLIP	19536157
MIRT714192	hsa-miR-626	HITS-CLIP	19536157
MIRT714191	hsa-miR-6876-3p	HITS-CLIP	19536157
MIRT714190	hsa-miR-6802-3p	HITS-CLIP	19536157
MIRT714189	hsa-miR-1229-3p	HITS-CLIP	19536157
MIRT714188	hsa-miR-3074-5p	HITS-CLIP	19536157
MIRT1451227	hsa-miR-1197	CLIP-seq
MIRT1451228	hsa-miR-1238	CLIP-seq
MIRT1451229	hsa-miR-1249	CLIP-seq
MIRT1451230	hsa-miR-1254	CLIP-seq
MIRT1451231	hsa-miR-1260	CLIP-seq
MIRT1451232	hsa-miR-1260b	CLIP-seq
MIRT1451233	hsa-miR-1278	CLIP-seq
MIRT1451234	hsa-miR-140-3p	CLIP-seq
MIRT1451235	hsa-miR-1538	CLIP-seq
MIRT1451236	hsa-miR-188-3p	CLIP-seq
MIRT1451237	hsa-miR-1913	CLIP-seq
MIRT1451238	hsa-miR-1973	CLIP-seq
MIRT1451239	hsa-miR-1976	CLIP-seq
MIRT1451240	hsa-miR-204	CLIP-seq
MIRT1451241	hsa-miR-211	CLIP-seq
MIRT1451242	hsa-miR-3116	CLIP-seq
MIRT1451243	hsa-miR-3127-5p	CLIP-seq
MIRT1451244	hsa-miR-3156-3p	CLIP-seq
MIRT1451245	hsa-miR-3180	CLIP-seq
MIRT1451246	hsa-miR-3180-3p	CLIP-seq
MIRT1451247	hsa-miR-3183	CLIP-seq
MIRT1451248	hsa-miR-3194-3p	CLIP-seq
MIRT1451249	hsa-miR-3196	CLIP-seq
MIRT1451250	hsa-miR-320a	CLIP-seq
MIRT1451251	hsa-miR-320b	CLIP-seq
MIRT1451252	hsa-miR-320c	CLIP-seq
MIRT1451253	hsa-miR-320d	CLIP-seq
MIRT1451254	hsa-miR-324-3p	CLIP-seq
MIRT1451255	hsa-miR-3605-3p	CLIP-seq
MIRT1451256	hsa-miR-3656	CLIP-seq
MIRT1451257	hsa-miR-3663-5p	CLIP-seq
MIRT1451258	hsa-miR-3676	CLIP-seq
MIRT1451259	hsa-miR-3687	CLIP-seq
MIRT1451260	hsa-miR-371-3p	CLIP-seq
MIRT1451261	hsa-miR-3907	CLIP-seq
MIRT1451262	hsa-miR-3921	CLIP-seq
MIRT1451263	hsa-miR-4268	CLIP-seq
MIRT1451264	hsa-miR-4279	CLIP-seq
MIRT1451265	hsa-miR-4283	CLIP-seq
MIRT1451266	hsa-miR-4287	CLIP-seq
MIRT1451267	hsa-miR-4290	CLIP-seq
MIRT1451268	hsa-miR-4313	CLIP-seq
MIRT1451269	hsa-miR-4429	CLIP-seq
MIRT1451270	hsa-miR-4442	CLIP-seq
MIRT1451271	hsa-miR-4450	CLIP-seq
MIRT1451272	hsa-miR-4455	CLIP-seq
MIRT1451273	hsa-miR-4488	CLIP-seq
MIRT1451274	hsa-miR-4532	CLIP-seq
MIRT1451275	hsa-miR-4649-3p	CLIP-seq
MIRT1451276	hsa-miR-4653-3p	CLIP-seq
MIRT1451277	hsa-miR-4653-5p	CLIP-seq
MIRT1451278	hsa-miR-4685-3p	CLIP-seq
MIRT1451279	hsa-miR-4697-5p	CLIP-seq
MIRT1451280	hsa-miR-4722-3p	CLIP-seq
MIRT1451281	hsa-miR-4723-3p	CLIP-seq
MIRT1451282	hsa-miR-4731-5p	CLIP-seq
MIRT1451283	hsa-miR-4745-3p	CLIP-seq
MIRT1451284	hsa-miR-4766-5p	CLIP-seq
MIRT1451285	hsa-miR-488	CLIP-seq
MIRT1451286	hsa-miR-491-5p	CLIP-seq
MIRT1451287	hsa-miR-550a	CLIP-seq
MIRT1451288	hsa-miR-628-5p	CLIP-seq
MIRT1451289	hsa-miR-640	CLIP-seq
MIRT1451290	hsa-miR-661	CLIP-seq
MIRT1451291	hsa-miR-662	CLIP-seq
MIRT1451292	hsa-miR-767-3p	CLIP-seq
MIRT1451293	hsa-miR-877	CLIP-seq
MIRT1451294	hsa-miR-942	CLIP-seq
MIRT1451264	hsa-miR-4279	CLIP-seq
MIRT2134868	hsa-miR-126	CLIP-seq
MIRT1451233	hsa-miR-1278	CLIP-seq
MIRT2134869	hsa-miR-1285	CLIP-seq
MIRT2134870	hsa-miR-1305	CLIP-seq
MIRT2134871	hsa-miR-1343	CLIP-seq
MIRT2134872	hsa-miR-147	CLIP-seq
MIRT2134873	hsa-miR-1912	CLIP-seq
MIRT2134874	hsa-miR-3147	CLIP-seq
MIRT2134875	hsa-miR-3184	CLIP-seq
MIRT2134876	hsa-miR-3190	CLIP-seq
MIRT2134877	hsa-miR-3612	CLIP-seq
MIRT2134878	hsa-miR-361-3p	CLIP-seq
MIRT1451257	hsa-miR-3663-5p	CLIP-seq
MIRT1451260	hsa-miR-371-3p	CLIP-seq
MIRT2134879	hsa-miR-3911	CLIP-seq
MIRT2134880	hsa-miR-4270	CLIP-seq
MIRT1451264	hsa-miR-4279	CLIP-seq
MIRT2134881	hsa-miR-4425	CLIP-seq
MIRT2134882	hsa-miR-4441	CLIP-seq
MIRT2134883	hsa-miR-4443	CLIP-seq
MIRT1451271	hsa-miR-4450	CLIP-seq
MIRT2134884	hsa-miR-4459	CLIP-seq
MIRT2134885	hsa-miR-4481	CLIP-seq
MIRT1451273	hsa-miR-4488	CLIP-seq
MIRT2134886	hsa-miR-4496	CLIP-seq
MIRT2134887	hsa-miR-4514	CLIP-seq
MIRT2134888	hsa-miR-4534	CLIP-seq
MIRT2134889	hsa-miR-4650-5p	CLIP-seq
MIRT2134890	hsa-miR-4690-5p	CLIP-seq
MIRT2134891	hsa-miR-4691-3p	CLIP-seq
MIRT2134892	hsa-miR-4692	CLIP-seq
MIRT1451279	hsa-miR-4697-5p	CLIP-seq
MIRT2134893	hsa-miR-4728-5p	CLIP-seq
MIRT2134894	hsa-miR-4729	CLIP-seq
MIRT2134895	hsa-miR-4740-3p	CLIP-seq
MIRT2134896	hsa-miR-4745-5p	CLIP-seq
MIRT2134897	hsa-miR-4762-5p	CLIP-seq
MIRT2134898	hsa-miR-4786-5p	CLIP-seq
MIRT2134899	hsa-miR-4802-5p	CLIP-seq
MIRT2134900	hsa-miR-486-3p	CLIP-seq
MIRT1451286	hsa-miR-491-5p	CLIP-seq
MIRT2134901	hsa-miR-552	CLIP-seq
MIRT2134902	hsa-miR-615-5p	CLIP-seq
MIRT2134903	hsa-miR-619	CLIP-seq
MIRT2134904	hsa-miR-621	CLIP-seq
MIRT2134905	hsa-miR-622	CLIP-seq
MIRT2134906	hsa-miR-644	CLIP-seq
MIRT2134907	hsa-miR-650	CLIP-seq
MIRT2134908	hsa-miR-665	CLIP-seq
MIRT2134909	hsa-miR-759	CLIP-seq
MIRT1451292	hsa-miR-767-3p	CLIP-seq
MIRT1451230	hsa-miR-1254	CLIP-seq
MIRT2356106	hsa-miR-1262	CLIP-seq
MIRT1451233	hsa-miR-1278	CLIP-seq
MIRT2134869	hsa-miR-1285	CLIP-seq
MIRT2356107	hsa-miR-149	CLIP-seq
MIRT2356108	hsa-miR-214	CLIP-seq
MIRT2356109	hsa-miR-24	CLIP-seq
MIRT1451242	hsa-miR-3116	CLIP-seq
MIRT2134877	hsa-miR-3612	CLIP-seq
MIRT1451257	hsa-miR-3663-5p	CLIP-seq
MIRT2356110	hsa-miR-3922-5p	CLIP-seq
MIRT2356111	hsa-miR-4257	CLIP-seq
MIRT2356112	hsa-miR-4261	CLIP-seq
MIRT1451264	hsa-miR-4279	CLIP-seq
MIRT2356113	hsa-miR-4284	CLIP-seq
MIRT2134883	hsa-miR-4443	CLIP-seq
MIRT2356114	hsa-miR-4453	CLIP-seq
MIRT1451272	hsa-miR-4455	CLIP-seq
MIRT2134886	hsa-miR-4496	CLIP-seq
MIRT2356115	hsa-miR-4538	CLIP-seq
MIRT2356116	hsa-miR-4701-3p	CLIP-seq
MIRT2356117	hsa-miR-4717-5p	CLIP-seq
MIRT2356118	hsa-miR-4753-5p	CLIP-seq
MIRT1451287	hsa-miR-550a	CLIP-seq
MIRT2356119	hsa-miR-609	CLIP-seq
MIRT2356120	hsa-miR-646	CLIP-seq
MIRT2134907	hsa-miR-650	CLIP-seq
MIRT1451290	hsa-miR-661	CLIP-seq
MIRT2356121	hsa-miR-766	CLIP-seq
MIRT1451264	hsa-miR-4279	CLIP-seq
MIRT1451228	hsa-miR-1238	CLIP-seq
MIRT1451239	hsa-miR-1976	CLIP-seq
MIRT1451240	hsa-miR-204	CLIP-seq
MIRT1451241	hsa-miR-211	CLIP-seq
MIRT1451247	hsa-miR-3183	CLIP-seq
MIRT1451264	hsa-miR-4279	CLIP-seq
MIRT1451266	hsa-miR-4287	CLIP-seq
MIRT1451267	hsa-miR-4290	CLIP-seq
MIRT1451278	hsa-miR-4685-3p	CLIP-seq
MIRT1451281	hsa-miR-4723-3p	CLIP-seq
MIRT2134869	hsa-miR-1285	CLIP-seq
MIRT2134873	hsa-miR-1912	CLIP-seq
MIRT2134875	hsa-miR-3184	CLIP-seq
MIRT1451260	hsa-miR-371-3p	CLIP-seq
MIRT2134869	hsa-miR-1285	CLIP-seq
MIRT2134873	hsa-miR-1912	CLIP-seq
MIRT2134875	hsa-miR-3184	CLIP-seq
MIRT1451260	hsa-miR-371-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000027	Process	Ribosomal large subunit assembly	IBA	21873635
GO:0000151	Component	Ubiquitin ligase complex	IDA	14743216
GO:0000185	Process	Activation of MAPKKK activity	IDA	14743216
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	14743216
GO:0005515	Function	Protein binding	IPI	14743216, 15001576, 21903422
GO:0005730	Component	Nucleolus	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA
GO:0006915	Process	Apoptotic process	IDA	15001576
GO:0007219	Process	Notch signaling pathway	IBA	21873635
GO:0008270	Function	Zinc ion binding	NAS	14743216
GO:0016567	Process	Protein ubiquitination	IDA	14743216
GO:0016567	Process	Protein ubiquitination	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	15001576
GO:0070372	Process	Regulation of ERK1 and ERK2 cascade	IMP	29961569
GO:2001235	Process	Positive regulation of apoptotic signaling pathway	IMP	15001576

Other IDs

• MIM: 606692
• HGNC: 20456
• e!Ensembl: ENSG00000131653

Protein

• UniProt ID: Q6Q0C0
• Protein name: E3 ubiquitin-protein ligase TRAF7 (EC 2.3.2.-) (EC 2.3.2.27) (RING finger and WD repeat-containing protein 1) (RING finger protein 119) (RING-type E3 ubiquitin transferase TRAF7) (TNF receptor-associated factor 7)
• Protein function: E3 ubiquitin and SUMO-protein ligase that plays a role in different biological processes such as innate immunity, inflammation or apoptosis (PubMed:15001576, PubMed:37086853). Potentiates MAP3K3-mediated activation of JUN/AP1 and DDIT3 transcrip
• PDB: 8IMS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13445	zf-RING_UBOX	131 → 167	RING-type zinc-finger	Domain
  PF00400	WD40	386 → 424	WD domain, G-beta repeat	Repeat
  PF00400	WD40	429 → 465	WD domain, G-beta repeat	Repeat
  PF00400	WD40	589 → 629	WD domain, G-beta repeat	Repeat
  PF00400	WD40	633 → 669	WD domain, G-beta repeat	Repeat

• Sequence:

  MSSGKSARYNRFSGGPSNLPTPDVTTGTRMETTFGPAFSAVTTITKADGTSTYKQHCRTP
  SSSSTLAYSPRDEEDSMPPISTPRRSDSAISVRSLHSESSMSLRSTFSLPEEEEEPEPLV
  FAEQPSVKLCCQLCCSVFKDPVITTCGHTFCRRCALKSEKCPVDNVKLTVVVNNIAVAEQ
  IGELFIHCRHGCRVAGSGKPPIFEVDPRGCPFTIKLSARKDHEGSCDYRPVRCPNNPSCP
  PLLRMNLEAHLKECEHIKCPHSKYGCTFIGNQDTYETHLETCRFEGLKEFLQQTDDRFHE
  MHVALAQKDQEIAFLRSMLGKLSEKIDQLEKSLELKFDVLDENQSKLSEDLMEFRRDASM
  LNDELSHINARLNMGILGSYDPQQIFKCKGTFVGHQGPVWCLCVYSMGDLLFSGSSDKTI
  KVWDTCTTYKCQKTLEGHDGIVLALCIQGCKLYSGSADCTIIVWDIQNLQKVNTIRAHDN
  PVCTLVSSHNVLFSGSLKAIKVWDIVGTELKLKKELTGLNHWVRALVAAQSYLYSGSYQT
  IKIWDIRTLDCIHVLQTSGGSVYSIAVTNHHIVCGTYENLIHVWDIESKEQVRTLTGHVG
  TVYALAVISTPDQTKVFSASYDRSLRVWSMDNMICTQTLLRHQGSVTALAVSRGRLFSGA
  VDSTVKVWTC

• Sequence length: 670

Pathways

Reactome:

Antigen processing: Ubiquitination & Proteasome degradation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Trichotillomania	Trichotillomania	rs193302861
Meningioma	Meningioma	rs587776563, rs121434259, rs387906857, rs397509405, rs397509406, rs397509407, rs397509408, rs797045990, rs876659443, rs878854603, rs1057518166, rs1060501395, rs1554897280, rs1554898242, rs1555605347, rs587782187, rs1555605750, rs878853937, rs1589596143, rs2037146593, rs2037146907
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074	25961944
Congenital heart defects	Congenital Heart Defects	rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321, rs1555223294, rs782051102, rs1555896779, rs1555896778, rs1555897088, rs374016704, rs1555446983, rs1479104927, rs1562443558, rs755445139, rs1581616817, rs1581655293, rs1899172049	25961944
Double outlet right ventricle	Double Outlet Right Ventricle	rs397514520, rs397514521
Hypoplastic left heart syndrome	Hypoplastic Left Heart Syndrome	rs1554284604, rs1843006535
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Cardiac, facial, and digital anomalies with developmental delay	CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY	rs1331463984, rs1567254067, rs1567252467, rs1567252659	29961569, 25961944

Unknown
Disease name	Disease term	dbSNP ID	References
Ptosis	Blepharoptosis, Ptosis	rs139920573
Aortic coarctation	Aortic coarctation
Basilar invagination	Basilar invagination
Congenital alveolar dysplasia	Respiratory Distress Syndrome, Newborn
Cerebral atrophy	Cerebral atrophy
Clinodactyly	Clinodactyly of fingers, Clinodactyly
Congenital epicanthus	Congenital Epicanthus
Congenital exomphalos	Congenital exomphalos
Cystic hygroma	Lymphangioma, Cystic
Malignant mesothelioma	Malignant mesothelioma		26928227
Partial atrioventricular canal defect	Partial atrioventricular canal
Pelvic kidney	Pelvic kidney
Pica	Pica Disease
Pulmonary stenosis	Pulmonary Stenosis