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.	79809
Gene name Gene Name - the full gene name approved by the HGNC.	Tetratricopeptide repeat domain 21B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TTC21B
Synonyms (NCBI Gene) Gene synonyms aliases	ATD4, CFAP60, FAP60, FLA17, IFT139, IFT139B, JBTS11, NPHP12, Nbla10696, SRTD4, THM1
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q24.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associa

Show/Hide all(24)

SNP ID	Visualize variation	Clinical significance	Consequence
rs76726265	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs79746977	G>A	Pathogenic	Coding sequence variant, stop gained
rs139441507	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign	Coding sequence variant, missense variant
rs140384742	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant, 3 prime UTR variant
rs146320075	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs146496725	G>C	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant, 3 prime UTR variant, genic downstream transcript variant
rs149325238	A>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs185089786	G>A,C	Pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant
rs369159801	G>T	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs387907059	A>T	Pathogenic	Coding sequence variant, stop gained
rs387907060	A>G	Pathogenic	Coding sequence variant, missense variant
rs753627675	C>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs759086770	A>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, 3 prime UTR variant, missense variant
rs759648976	->CACCCGC	Likely-pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, inframe indel
rs760214276	T>C	Pathogenic	Genic upstream transcript variant, splice acceptor variant, upstream transcript variant
rs766132877	T>C	Pathogenic	Splice acceptor variant, synonymous variant, coding sequence variant
rs775836730	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs866222900	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1453462442	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553506530	TA>-	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant, genic downstream transcript variant
rs1553508246	T>C	Likely-pathogenic	Splice acceptor variant
rs1553516687	G>T	Pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, missense variant
rs1559056633	G>A	Pathogenic	Stop gained, coding sequence variant
rs1574070787	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant

Show/Hide all(212)

miRTarBase ID	miRNA	Experiments	Reference
MIRT046982	hsa-miR-218-5p	CLASH	23622248
MIRT696584	hsa-miR-3974	HITS-CLIP	23313552
MIRT696583	hsa-miR-624-3p	HITS-CLIP	23313552
MIRT696582	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT696581	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT696580	hsa-miR-940	HITS-CLIP	23313552
MIRT696578	hsa-miR-4457	HITS-CLIP	23313552
MIRT696579	hsa-miR-125b-2-3p	HITS-CLIP	23313552
MIRT696577	hsa-miR-383-3p	HITS-CLIP	23313552
MIRT696576	hsa-miR-1827	HITS-CLIP	23313552
MIRT696575	hsa-miR-6089	HITS-CLIP	23313552
MIRT696574	hsa-miR-3665	HITS-CLIP	23313552
MIRT696573	hsa-miR-4736	HITS-CLIP	23313552
MIRT696572	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT696571	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT696570	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT696569	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT696568	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT696567	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT696566	hsa-miR-3165	HITS-CLIP	23313552
MIRT696565	hsa-miR-513b-5p	HITS-CLIP	23313552
MIRT696564	hsa-miR-7977	HITS-CLIP	23313552
MIRT696563	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT696562	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT696561	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT696560	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT696559	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT696558	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT696557	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT696556	hsa-miR-3689c	HITS-CLIP	23313552
MIRT696555	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT696554	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT696553	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT696552	hsa-miR-3122	HITS-CLIP	23313552
MIRT696551	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT696550	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT696549	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT696584	hsa-miR-3974	HITS-CLIP	23313552
MIRT696583	hsa-miR-624-3p	HITS-CLIP	23313552
MIRT696582	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT696581	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT696580	hsa-miR-940	HITS-CLIP	23313552
MIRT696578	hsa-miR-4457	HITS-CLIP	23313552
MIRT696579	hsa-miR-125b-2-3p	HITS-CLIP	23313552
MIRT696577	hsa-miR-383-3p	HITS-CLIP	23313552
MIRT696576	hsa-miR-1827	HITS-CLIP	23313552
MIRT696575	hsa-miR-6089	HITS-CLIP	23313552
MIRT696574	hsa-miR-3665	HITS-CLIP	23313552
MIRT696573	hsa-miR-4736	HITS-CLIP	23313552
MIRT696572	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT696571	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT696570	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT696569	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT696568	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT696567	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT696566	hsa-miR-3165	HITS-CLIP	23313552
MIRT696565	hsa-miR-513b-5p	HITS-CLIP	23313552
MIRT696564	hsa-miR-7977	HITS-CLIP	23313552
MIRT696563	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT696562	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT696561	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT696560	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT696559	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT696558	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT696557	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT696556	hsa-miR-3689c	HITS-CLIP	23313552
MIRT696555	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT696554	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT696553	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT696552	hsa-miR-3122	HITS-CLIP	23313552
MIRT696551	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT696550	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT696549	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT1461039	hsa-miR-1287	CLIP-seq
MIRT1461040	hsa-miR-2114	CLIP-seq
MIRT1461041	hsa-miR-3135b	CLIP-seq
MIRT1461042	hsa-miR-3675-3p	CLIP-seq
MIRT1461043	hsa-miR-3922-5p	CLIP-seq
MIRT1461044	hsa-miR-3929	CLIP-seq
MIRT1461045	hsa-miR-4419b	CLIP-seq
MIRT1461046	hsa-miR-4434	CLIP-seq
MIRT1461047	hsa-miR-4478	CLIP-seq
MIRT1461048	hsa-miR-4486	CLIP-seq
MIRT1461049	hsa-miR-4516	CLIP-seq
MIRT1461050	hsa-miR-4531	CLIP-seq
MIRT1461051	hsa-miR-4540	CLIP-seq
MIRT1461052	hsa-miR-4684-5p	CLIP-seq
MIRT1461053	hsa-miR-4722-5p	CLIP-seq
MIRT1461054	hsa-miR-4768-3p	CLIP-seq
MIRT1461055	hsa-miR-485-5p	CLIP-seq
MIRT1461056	hsa-miR-548c-3p	CLIP-seq
MIRT1461057	hsa-miR-605	CLIP-seq
MIRT1461058	hsa-miR-661	CLIP-seq
MIRT2138457	hsa-miR-1227	CLIP-seq
MIRT2138458	hsa-miR-24	CLIP-seq
MIRT1461043	hsa-miR-3922-5p	CLIP-seq
MIRT2138459	hsa-miR-4252	CLIP-seq
MIRT2138460	hsa-miR-4284	CLIP-seq
MIRT2138461	hsa-miR-4466	CLIP-seq
MIRT1461048	hsa-miR-4486	CLIP-seq
MIRT2138462	hsa-miR-4505	CLIP-seq
MIRT2138463	hsa-miR-4746-3p	CLIP-seq
MIRT2138464	hsa-miR-4793-3p	CLIP-seq
MIRT2138465	hsa-miR-508-5p	CLIP-seq
MIRT2138466	hsa-miR-513b	CLIP-seq
MIRT2138467	hsa-miR-624	CLIP-seq
MIRT1461058	hsa-miR-661	CLIP-seq
MIRT2138468	hsa-miR-675	CLIP-seq
MIRT2138469	hsa-miR-766	CLIP-seq
MIRT2138457	hsa-miR-1227	CLIP-seq
MIRT2359373	hsa-miR-1278	CLIP-seq
MIRT2359374	hsa-miR-1323	CLIP-seq
MIRT2359375	hsa-miR-136	CLIP-seq
MIRT2359376	hsa-miR-15a	CLIP-seq
MIRT2359377	hsa-miR-15b	CLIP-seq
MIRT2359378	hsa-miR-16	CLIP-seq
MIRT2359379	hsa-miR-195	CLIP-seq
MIRT2359380	hsa-miR-23a	CLIP-seq
MIRT2359381	hsa-miR-23b	CLIP-seq
MIRT2359382	hsa-miR-23c	CLIP-seq
MIRT2359383	hsa-miR-3120-3p	CLIP-seq
MIRT2359384	hsa-miR-3121-3p	CLIP-seq
MIRT2359385	hsa-miR-3171	CLIP-seq
MIRT2359386	hsa-miR-335	CLIP-seq
MIRT2359387	hsa-miR-3591-3p	CLIP-seq
MIRT2359388	hsa-miR-3671	CLIP-seq
MIRT2359389	hsa-miR-3682-5p	CLIP-seq
MIRT1461044	hsa-miR-3929	CLIP-seq
MIRT2359390	hsa-miR-424	CLIP-seq
MIRT2138459	hsa-miR-4252	CLIP-seq
MIRT2359391	hsa-miR-4261	CLIP-seq
MIRT2359392	hsa-miR-4267	CLIP-seq
MIRT1461045	hsa-miR-4419b	CLIP-seq
MIRT2359393	hsa-miR-4459	CLIP-seq
MIRT1461047	hsa-miR-4478	CLIP-seq
MIRT1461048	hsa-miR-4486	CLIP-seq
MIRT2359394	hsa-miR-4496	CLIP-seq
MIRT2359395	hsa-miR-4695-5p	CLIP-seq
MIRT1461053	hsa-miR-4722-5p	CLIP-seq
MIRT2359396	hsa-miR-4749-3p	CLIP-seq
MIRT2359397	hsa-miR-4753-3p	CLIP-seq
MIRT2359398	hsa-miR-4762-5p	CLIP-seq
MIRT1461054	hsa-miR-4768-3p	CLIP-seq
MIRT2138464	hsa-miR-4793-3p	CLIP-seq
MIRT2359399	hsa-miR-4797-5p	CLIP-seq
MIRT1461055	hsa-miR-485-5p	CLIP-seq
MIRT2359400	hsa-miR-497	CLIP-seq
MIRT2138465	hsa-miR-508-5p	CLIP-seq
MIRT2138466	hsa-miR-513b	CLIP-seq
MIRT2359401	hsa-miR-548o	CLIP-seq
MIRT2138467	hsa-miR-624	CLIP-seq
MIRT2359402	hsa-miR-658	CLIP-seq
MIRT1461058	hsa-miR-661	CLIP-seq
MIRT2359403	hsa-miR-665	CLIP-seq
MIRT2138469	hsa-miR-766	CLIP-seq
MIRT2359404	hsa-miR-885-5p	CLIP-seq
MIRT2359405	hsa-miR-942	CLIP-seq
MIRT2462598	hsa-miR-3613-3p	CLIP-seq
MIRT1461042	hsa-miR-3675-3p	CLIP-seq
MIRT2462599	hsa-miR-4455	CLIP-seq
MIRT1461052	hsa-miR-4684-5p	CLIP-seq
MIRT1461056	hsa-miR-548c-3p	CLIP-seq
MIRT1461057	hsa-miR-605	CLIP-seq
MIRT2652624	hsa-miR-183	CLIP-seq
MIRT1461040	hsa-miR-2114	CLIP-seq
MIRT2359386	hsa-miR-335	CLIP-seq
MIRT2462598	hsa-miR-3613-3p	CLIP-seq
MIRT1461042	hsa-miR-3675-3p	CLIP-seq
MIRT1461044	hsa-miR-3929	CLIP-seq
MIRT2138459	hsa-miR-4252	CLIP-seq
MIRT1461045	hsa-miR-4419b	CLIP-seq
MIRT2462599	hsa-miR-4455	CLIP-seq
MIRT1461047	hsa-miR-4478	CLIP-seq
MIRT1461048	hsa-miR-4486	CLIP-seq
MIRT1461051	hsa-miR-4540	CLIP-seq
MIRT1461052	hsa-miR-4684-5p	CLIP-seq
MIRT1461053	hsa-miR-4722-5p	CLIP-seq
MIRT1461054	hsa-miR-4768-3p	CLIP-seq
MIRT2138464	hsa-miR-4793-3p	CLIP-seq
MIRT1461055	hsa-miR-485-5p	CLIP-seq
MIRT2138465	hsa-miR-508-5p	CLIP-seq
MIRT2138466	hsa-miR-513b	CLIP-seq
MIRT2652625	hsa-miR-532-5p	CLIP-seq
MIRT1461056	hsa-miR-548c-3p	CLIP-seq
MIRT1461057	hsa-miR-605	CLIP-seq
MIRT2138467	hsa-miR-624	CLIP-seq
MIRT1461058	hsa-miR-661	CLIP-seq
MIRT2138469	hsa-miR-766	CLIP-seq
MIRT1461040	hsa-miR-2114	CLIP-seq
MIRT2359386	hsa-miR-335	CLIP-seq
MIRT2462598	hsa-miR-3613-3p	CLIP-seq
MIRT1461042	hsa-miR-3675-3p	CLIP-seq
MIRT1461044	hsa-miR-3929	CLIP-seq
MIRT2138459	hsa-miR-4252	CLIP-seq
MIRT1461045	hsa-miR-4419b	CLIP-seq
MIRT2462599	hsa-miR-4455	CLIP-seq
MIRT1461047	hsa-miR-4478	CLIP-seq
MIRT1461048	hsa-miR-4486	CLIP-seq
MIRT1461051	hsa-miR-4540	CLIP-seq
MIRT1461052	hsa-miR-4684-5p	CLIP-seq
MIRT1461053	hsa-miR-4722-5p	CLIP-seq
MIRT1461054	hsa-miR-4768-3p	CLIP-seq
MIRT2138464	hsa-miR-4793-3p	CLIP-seq
MIRT1461055	hsa-miR-485-5p	CLIP-seq
MIRT2138465	hsa-miR-508-5p	CLIP-seq
MIRT2138466	hsa-miR-513b	CLIP-seq
MIRT2652625	hsa-miR-532-5p	CLIP-seq
MIRT1461056	hsa-miR-548c-3p	CLIP-seq
MIRT1461057	hsa-miR-605	CLIP-seq
MIRT2138467	hsa-miR-624	CLIP-seq
MIRT1461058	hsa-miR-661	CLIP-seq
MIRT2138469	hsa-miR-766	CLIP-seq

Show/Hide all(35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	29220510
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	NAS	27806291
GO:0005929	Component	Cilium	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IMP	22302990
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0008589	Process	Regulation of smoothened signaling pathway	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0021549	Process	Cerebellum development	IEA
GO:0021591	Process	Ventricular system development	IEA
GO:0021702	Process	Cerebellar Purkinje cell differentiation	IEA
GO:0021798	Process	Forebrain dorsal/ventral pattern formation	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0030991	Component	Intraciliary transport particle A	IBA
GO:0030991	Component	Intraciliary transport particle A	IDA	20889716, 27932497
GO:0030991	Component	Intraciliary transport particle A	IEA
GO:0030991	Component	Intraciliary transport particle A	IPI	27173435
GO:0035721	Process	Intraciliary retrograde transport	IBA
GO:0035721	Process	Intraciliary retrograde transport	IEA
GO:0035721	Process	Intraciliary retrograde transport	NAS	27806291
GO:0042995	Component	Cell projection	IEA
GO:0060020	Process	Bergmann glial cell differentiation	IEA
GO:0060271	Process	Cilium assembly	NAS	27806291
GO:0061512	Process	Protein localization to cilium	IBA
GO:0061512	Process	Protein localization to cilium	IEA
GO:0061512	Process	Protein localization to cilium	IMP	20889716
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IEA
GO:0097499	Process	Protein localization to non-motile cilium	IEA
GO:0097542	Component	Ciliary tip	TAS
GO:1903999	Process	Negative regulation of eating behavior	IEA
GO:1905799	Process	Regulation of intraciliary retrograde transport	IMP	27932497

MIM	HGNC	e!Ensembl
612014	25660	ENSG00000123607

Protein

UniProt ID

Q7Z4L5

Protein name

Tetratricopeptide repeat protein 21B (TPR repeat protein 21B) (Intraflagellar transport 139 homolog)

Protein function

Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs). Essential for retrograde trafficking of IFT-1, IFT-B and GPCRs (PubMed:27932497). Negatively

PDB

8BBE , 8BBG , 8FGW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13181	TPR_8	722 → 755	Tetratricopeptide repeat	Repeat
PF13181	TPR_8	790 → 822	Tetratricopeptide repeat	Repeat
PF14559	TPR_19	894 → 961		Domain

Sequence

MDSQELKTLINYYCQERYFHHVLLVASEGIKRYGSDPVFRFYHAYGTLMEGKTQEALREF
EAIKNKQDVSLCSLLALIYAHKMSPNPDREAILESDARVKEQRKGAGEKALYHAGLFLWH
IGRHDKAREYIDRMIKISDGSKQGHVLKAWLDITRGKEPYTKKALKYFEEGLQDGNDTFA
LLGKAQCLEMRQNYSGALETVNQIIVNFPSFLPAFVKKMKLQLALQDWDQTVETAQRLLL
QDSQNVEALRMQALYYVCREGDIEKASTKLENLGNTLDAMEPQNAQLFYNITLAFSRTCG
RSQLILQKIQTLLERAFSLNPQQSEFATELGYQMILQGRVKEALKWYKTAMTLDETSVSA
LVGFIQCQLIEGQLQDADQQLEFLNEIQQSIGKSAELIYLHAVLAMKKNKRQEEVINLLN
DVLDTHFSQLEGLPLGIQYFEKLNPDFLLEIVMEYLSFCPMQPASPGQPLCPLLRRCISV
LETVVRTVPGLLQTVFLIAKVKYLSGDIEAAFNNLQHCLEHNPSYADAHLLLAQVYLSQE
KVKLCSQSLELCLSYDFKVRDYPLYHLIKAQSQKKMGEIADAIKTLHMAMSLPGMKRIGA
STKSKDRKTEVDTSHRLSIFLELIDVHRLNGEQHEATKVLQDAIHEFSGTSEEVRVTIAN
ADLALAQGDIERALSILQNVTAEQPYFIEAREKMADIYLKHRKDKMLYITCFREIAERMA
NPRSFLLLGDAYMNILEPEEAIVAYEQALNQNPKDGTLASKMGKALIKTHNYSMAITYYE
AALKTGQKNYLCYDLAELLLKLKWYDKAEKVLQHALAHEPVNELSALMEDGRCQVLLAKV
YSKMEKLGDAITALQQARELQARVLKRVQMEQPDAVPAQKHLAAEICAEIAKHSVAQRDY
EKAIKFYREALVHCETDNKIMLELARLYLAQDDPDSCLRQCALLLQSDQDNEAATMMMAD
LMFRKQDYEQAVFHLQQLLERKPDNYMTLSRLIDLLRRCGKLEDVPRFFSMAEKRNSRAK
LEPGFQYCKGLYLWYTGEPNDALRHFNKARKDRDWGQNALYNMIEICLNPDNETVGGEVF
ENLDGDLGNSTEKQESVQLAVRTAEKLLKELKPQTVQGHVQLRIMENYCLMATKQKSNVE
QALNTFTEIAASEKEHIPALLGMATAYMILKQTPRARNQLKRIAKMNWNAIDAEEFEKSW
LLLADIYIQSAKYDMAEDLLKRCLRHNRSCCKAYEYMGYIMEKEQAYTDAALNYEMAWKY
SNRTNPAVGYKLAFNYLKAKRYVDSIDICHQVLEAHPTYPKIRKDILDKARASLRP

Sequence length

1316

Interactions

View interactions

	Reactome
			Hedgehog 'off' state Intraflagellar transport

Show/Hide Causal Diseases (9)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Asphyxiating Thoracic Dystrophy	Asphyxiating thoracic dystrophy 4	rs775836730, rs760214276, rs185089786, rs387907060, rs759086770	N/A
Finnish Congenital Nephrotic Syndrome	finnish congenital nephrotic syndrome	rs140511594	N/A
Jeune Thoracic Dystrophy	jeune thoracic dystrophy	rs1453462442	N/A
Nephronophthisis	nephronophthisis 12, infantile nephronophthisis	rs387907059, rs766132877, rs1559056633, rs140511594	N/A
Nephrotic Syndrome	nephrotic syndrome	rs140511594	N/A
renal dysplasia and retinal aplasia	Renal dysplasia and retinal aplasia	rs753627675	N/A
retinal dystrophy	Retinal dystrophy	rs140511594, rs775836730	N/A
Short-Rib Thoracic Dysplasia With Or Without Polydactyly	Short-rib thoracic dysplasia 6 with or without polydactyly	rs1553516687, rs759648976, rs79746977	N/A
SHORT-RIB THORACIC DYSPLASIA WITH POLYDACTYLY	short-rib thoracic dysplasia 4 with polydactyly	rs1553516241	N/A

Show/Hide Unknown Diseases (6)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Cerebellar vermis agenesis	familial aplasia of the vermis	N/A	N/A	ClinVar
Connective Tissue Disease	Connective tissue disorder	N/A	N/A	ClinVar
Jeune Syndrome	Jeune syndrome	N/A	N/A	GenCC
Joubert Syndrome	joubert syndrome 1	N/A	N/A	ClinVar
Kidney Disease	Chronic kidney disease	N/A	N/A	ClinVar
Meckel-Gruber Syndrome	Meckel-Gruber-like syndrome	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Agenesis of Cerebellar Vermis	Associate	33547761
Allanson Pantzar McLeod syndrome	Associate	33547761
Astigmatism	Associate	30747064
Bardet Biedl Syndrome	Associate	35112343, 35695966
Ciliary Motility Disorders	Associate	33547761
Ciliopathies	Associate	21068128, 32238723, 33547761, 33875766, 35695966
Glomerulosclerosis Focal Segmental	Associate	32238723, 33547761, 34435324, 35289079
Heterotaxy Syndrome	Associate	33547761
Hypertension	Associate	35289079
Jeune syndrome	Associate	31935347, 33547761
Kidney Diseases	Associate	32238723, 35289079
Lung agenesis	Associate	35695966
Macular Degeneration	Associate	30747064
Medullary cystic kidney disease 1	Associate	32238723
Myopia Degenerative	Associate	30747064
Neoplasms	Associate	29681454
Nephronophthisis familial juvenile	Associate	32238723, 33547761, 35289079
Polycystic Kidney Diseases	Associate	32238723
Pulmonary Arterial Hypertension	Associate	35289079
Renal Insufficiency	Associate	35112343
Respiratory Insufficiency	Associate	35695966
Senior Loken Syndrome	Associate	35695966
Situs Inversus	Associate	33547761

TTC21B (tetratricopeptide repeat domain 21B)