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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	57217
Gene name	Tetratricopeptide repeat domain 7A
Gene symbol	TTC7A
Synonyms (NCBI Gene)	GIDIDMINATTTC7
Chromosome	2
Chromosome location	2p21
Summary	This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript varian

Show/Hide all (32)

SNP ID	Visualize variation	Clinical significance	Consequence
rs139010200	A>C,G	Pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs149602485	T>A,C	Pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant
rs150269540	C>T	Pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs201100272	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs202044972	G>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs587776971	AAGT>-	Pathogenic	Splice donor variant, intron variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs587776972	T>C	Pathogenic, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs587777547	C>T	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, stop gained, non coding transcript variant, coding sequence variant
rs587777548	C>G,T	Pathogenic, likely-benign	Synonymous variant, genic upstream transcript variant, 5 prime UTR variant, stop gained, non coding transcript variant, coding sequence variant
rs587777549	G>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs587777550	->G	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587777551	T>A	Pathogenic	Intron variant
rs755985958	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs766411601	A>C,T	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained
rs768053395	->C	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs773754673	C>G,T	Likely-pathogenic	Non coding transcript variant, missense variant, stop gained, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs776906926	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs777469885	G>T	Pathogenic	Splice acceptor variant, intron variant, genic upstream transcript variant
rs786205698	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs876657392	A>G	Pathogenic	Splice acceptor variant
rs876657393	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs886037746	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, splice donor variant, non coding transcript variant
rs886037747	TCTA>-	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant
rs886042805	G>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant
rs886042806	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs989682938	G>A	Likely-pathogenic	Genic upstream transcript variant, stop gained, intron variant, non coding transcript variant, coding sequence variant
rs1057516047	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1297794582	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1558568116	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1572849873	->C	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant
rs1572961263	G>C	Pathogenic	Intron variant
rs1573068097	T>C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant

156

Show/Hide all (156)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002709	hsa-miR-124-3p	Microarray	15685193
MIRT002709	hsa-miR-124-3p	Microarray	18668037
MIRT002709	hsa-miR-124-3p	Microarray	15685193
MIRT047556	hsa-miR-10a-5p	CLASH	23622248
MIRT1461803	hsa-miR-1226	CLIP-seq
MIRT1461804	hsa-miR-124	CLIP-seq
MIRT1461805	hsa-miR-1243	CLIP-seq
MIRT1461806	hsa-miR-125a-5p	CLIP-seq
MIRT1461807	hsa-miR-125b	CLIP-seq
MIRT1461808	hsa-miR-1266	CLIP-seq
MIRT1461809	hsa-miR-1273f	CLIP-seq
MIRT1461810	hsa-miR-1285	CLIP-seq
MIRT1461811	hsa-miR-1323	CLIP-seq
MIRT1461812	hsa-miR-143	CLIP-seq
MIRT1461813	hsa-miR-146a	CLIP-seq
MIRT1461814	hsa-miR-146b-5p	CLIP-seq
MIRT1461815	hsa-miR-1910	CLIP-seq
MIRT1461816	hsa-miR-1912	CLIP-seq
MIRT1461817	hsa-miR-23a	CLIP-seq
MIRT1461818	hsa-miR-23b	CLIP-seq
MIRT1461819	hsa-miR-23c	CLIP-seq
MIRT1461820	hsa-miR-31	CLIP-seq
MIRT1461821	hsa-miR-3140-3p	CLIP-seq
MIRT1461822	hsa-miR-3144-5p	CLIP-seq
MIRT1461823	hsa-miR-3145-5p	CLIP-seq
MIRT1461824	hsa-miR-3157-5p	CLIP-seq
MIRT1461825	hsa-miR-3169	CLIP-seq
MIRT1461826	hsa-miR-3176	CLIP-seq
MIRT1461827	hsa-miR-3187-5p	CLIP-seq
MIRT1461828	hsa-miR-3191	CLIP-seq
MIRT1461829	hsa-miR-326	CLIP-seq
MIRT1461830	hsa-miR-330-5p	CLIP-seq
MIRT1461831	hsa-miR-3620	CLIP-seq
MIRT1461832	hsa-miR-3922-3p	CLIP-seq
MIRT1461833	hsa-miR-412	CLIP-seq
MIRT1461834	hsa-miR-4267	CLIP-seq
MIRT1461835	hsa-miR-4289	CLIP-seq
MIRT1461836	hsa-miR-4292	CLIP-seq
MIRT1461837	hsa-miR-4297	CLIP-seq
MIRT1461838	hsa-miR-4310	CLIP-seq
MIRT1461839	hsa-miR-4319	CLIP-seq
MIRT1461840	hsa-miR-4324	CLIP-seq
MIRT1461841	hsa-miR-4446-5p	CLIP-seq
MIRT1461842	hsa-miR-4469	CLIP-seq
MIRT1461843	hsa-miR-4515	CLIP-seq
MIRT1461844	hsa-miR-4518	CLIP-seq
MIRT1461845	hsa-miR-4652-5p	CLIP-seq
MIRT1461846	hsa-miR-4659a-3p	CLIP-seq
MIRT1461847	hsa-miR-4659b-3p	CLIP-seq
MIRT1461848	hsa-miR-4667-5p	CLIP-seq
MIRT1461849	hsa-miR-4691-3p	CLIP-seq
MIRT1461850	hsa-miR-4696	CLIP-seq
MIRT1461851	hsa-miR-4700-5p	CLIP-seq
MIRT1461852	hsa-miR-4708-5p	CLIP-seq
MIRT1461853	hsa-miR-4733-3p	CLIP-seq
MIRT1461854	hsa-miR-4757-5p	CLIP-seq
MIRT1461855	hsa-miR-4762-5p	CLIP-seq
MIRT1461856	hsa-miR-4770	CLIP-seq
MIRT1461857	hsa-miR-4793-5p	CLIP-seq
MIRT1461858	hsa-miR-506	CLIP-seq
MIRT1461859	hsa-miR-510	CLIP-seq
MIRT1461860	hsa-miR-515-5p	CLIP-seq
MIRT1461861	hsa-miR-532-5p	CLIP-seq
MIRT1461862	hsa-miR-548an	CLIP-seq
MIRT1461863	hsa-miR-548o	CLIP-seq
MIRT1461864	hsa-miR-577	CLIP-seq
MIRT1461865	hsa-miR-589	CLIP-seq
MIRT1461866	hsa-miR-612	CLIP-seq
MIRT1461867	hsa-miR-758	CLIP-seq
MIRT1461868	hsa-miR-767-3p	CLIP-seq
MIRT1461869	hsa-miR-942	CLIP-seq
MIRT2138743	hsa-miR-1260	CLIP-seq
MIRT2138744	hsa-miR-1260b	CLIP-seq
MIRT1461809	hsa-miR-1273f	CLIP-seq
MIRT2138745	hsa-miR-1324	CLIP-seq
MIRT1461812	hsa-miR-143	CLIP-seq
MIRT2138746	hsa-miR-1470	CLIP-seq
MIRT2138747	hsa-miR-188-3p	CLIP-seq
MIRT1461815	hsa-miR-1910	CLIP-seq
MIRT1461817	hsa-miR-23a	CLIP-seq
MIRT1461818	hsa-miR-23b	CLIP-seq
MIRT1461819	hsa-miR-23c	CLIP-seq
MIRT1461822	hsa-miR-3144-5p	CLIP-seq
MIRT2138748	hsa-miR-3156-3p	CLIP-seq
MIRT1461824	hsa-miR-3157-5p	CLIP-seq
MIRT1461828	hsa-miR-3191	CLIP-seq
MIRT2138749	hsa-miR-3690	CLIP-seq
MIRT2138750	hsa-miR-3922-5p	CLIP-seq
MIRT2138751	hsa-miR-3977	CLIP-seq
MIRT1461833	hsa-miR-412	CLIP-seq
MIRT2138752	hsa-miR-4257	CLIP-seq
MIRT1461835	hsa-miR-4289	CLIP-seq
MIRT2138753	hsa-miR-4301	CLIP-seq
MIRT2138754	hsa-miR-4446-3p	CLIP-seq
MIRT2138755	hsa-miR-4520a-3p	CLIP-seq
MIRT1461845	hsa-miR-4652-5p	CLIP-seq
MIRT1461846	hsa-miR-4659a-3p	CLIP-seq
MIRT1461847	hsa-miR-4659b-3p	CLIP-seq
MIRT2138756	hsa-miR-4667-3p	CLIP-seq
MIRT1461848	hsa-miR-4667-5p	CLIP-seq
MIRT1461849	hsa-miR-4691-3p	CLIP-seq
MIRT1461851	hsa-miR-4700-5p	CLIP-seq
MIRT2138757	hsa-miR-4707-3p	CLIP-seq
MIRT1461852	hsa-miR-4708-5p	CLIP-seq
MIRT1461856	hsa-miR-4770	CLIP-seq
MIRT2138758	hsa-miR-490-5p	CLIP-seq
MIRT2138759	hsa-miR-635	CLIP-seq
MIRT1461868	hsa-miR-767-3p	CLIP-seq
MIRT2359610	hsa-miR-1207-3p	CLIP-seq
MIRT1461803	hsa-miR-1226	CLIP-seq
MIRT1461804	hsa-miR-124	CLIP-seq
MIRT2359611	hsa-miR-1276	CLIP-seq
MIRT1461813	hsa-miR-146a	CLIP-seq
MIRT1461814	hsa-miR-146b-5p	CLIP-seq
MIRT2138746	hsa-miR-1470	CLIP-seq
MIRT2359612	hsa-miR-1909	CLIP-seq
MIRT2359613	hsa-miR-203	CLIP-seq
MIRT2359614	hsa-miR-2115	CLIP-seq
MIRT2359615	hsa-miR-296-3p	CLIP-seq
MIRT2359616	hsa-miR-3140-5p	CLIP-seq
MIRT2359617	hsa-miR-3150a-3p	CLIP-seq
MIRT2359618	hsa-miR-3151	CLIP-seq
MIRT2359619	hsa-miR-3153	CLIP-seq
MIRT2359620	hsa-miR-3175	CLIP-seq
MIRT2359621	hsa-miR-3614-5p	CLIP-seq
MIRT2359622	hsa-miR-3663-5p	CLIP-seq
MIRT2359623	hsa-miR-3692	CLIP-seq
MIRT2138752	hsa-miR-4257	CLIP-seq
MIRT2359624	hsa-miR-4330	CLIP-seq
MIRT2359625	hsa-miR-4481	CLIP-seq
MIRT2359626	hsa-miR-4494	CLIP-seq
MIRT2359627	hsa-miR-452	CLIP-seq
MIRT2359628	hsa-miR-4663	CLIP-seq
MIRT2138756	hsa-miR-4667-3p	CLIP-seq
MIRT2359629	hsa-miR-4676-3p	CLIP-seq
MIRT2359630	hsa-miR-4690-5p	CLIP-seq
MIRT2359631	hsa-miR-4693-3p	CLIP-seq
MIRT2359632	hsa-miR-4716-3p	CLIP-seq
MIRT2359633	hsa-miR-4745-5p	CLIP-seq
MIRT2359634	hsa-miR-4761-5p	CLIP-seq
MIRT1461857	hsa-miR-4793-5p	CLIP-seq
MIRT2359635	hsa-miR-491-5p	CLIP-seq
MIRT2359636	hsa-miR-499a-5p	CLIP-seq
MIRT1461858	hsa-miR-506	CLIP-seq
MIRT2359637	hsa-miR-516a-3p	CLIP-seq
MIRT1461862	hsa-miR-548an	CLIP-seq
MIRT1461865	hsa-miR-589	CLIP-seq
MIRT2359638	hsa-miR-625	CLIP-seq
MIRT2359639	hsa-miR-939	CLIP-seq
MIRT2396460	hsa-miR-545	CLIP-seq
MIRT2652997	hsa-miR-2467-5p	CLIP-seq
MIRT2652998	hsa-miR-3188	CLIP-seq
MIRT2652999	hsa-miR-3613-3p	CLIP-seq
MIRT2138750	hsa-miR-3922-5p	CLIP-seq
MIRT2653000	hsa-miR-3975	CLIP-seq
MIRT2653001	hsa-miR-485-5p	CLIP-seq

Show/Hide all (10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	24417819, 33122718
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IEA
GO:0016020	Component	Membrane	IEA
GO:0030097	Process	Hemopoiesis	IEA
GO:0046854	Process	Phosphatidylinositol phosphate biosynthetic process	IBA
GO:0072659	Process	Protein localization to plasma membrane	IBA
GO:0072659	Process	Protein localization to plasma membrane	IDA	23229899

MIM	HGNC	e!Ensembl
609332	19750	ENSG00000068724

Q9ULT0

Protein name

Tetratricopeptide repeat protein 7A (TPR repeat protein 7A)

Protein function

Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:23229899, PubMed:24417819). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13181	TPR_8	745 → 777	Tetratricopeptide repeat	Repeat
PF13181	TPR_8	813 → 846	Tetratricopeptide repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Expressed in epithelial cells of the intestine, thymus, and pancreas (at protein level). {ECO:0000269|PubMed:25546680}.

Sequence

MAAKGAHGSYLKVESELERCRAEGHWDRMPELVRQLQTLSMPGGGGNRRGSPSAAFTFPD
TDDFGKLLLAEALLEQCLKENHAKIKDSMPLLEKNEPKMSEAKNYLSSILNHGRLSPQYM
CEAMLILGKLHYVEGSYRDAISMYARAGIDDMSMENKPLYQMRLLSEAFVIKGLSLERLP
NSIASRFRLTEREEEVITCFERASWIAQVFLQELEKTTNNSTSRHLKGCHPLDYELTYFL
EAALQSAYVKNLKKGNIVKGMRELREVLRTVETKATQNFKVMAAKHLAGVLLHSLSEECY
WSPLSHPLPEFMGKEESSFATQALRKPHLYEGDNLYCPKDNIEEALLLLLISESMATRDV
VLSRVPEQEEDRTVSLQNAAAIYDLLSITLGRRGQYVMLSECLERAMKFAFGEFHLWYQV
ALSMVACGKSAYAVSLLRECVKLRPSDPTVPLMAAKVCIGSLRWLEEAEHFAMMVISLGE
EAGEFLPKGYLALGLTYSLQATDATLKSKQDELHRKALQTLERAQQLAPSDPQVILYVSL
QLALVRQISSAMEQLQEALKVRKDDAHALHLLALLFSAQKHHQHALDVVNMAITEHPENF
NLMFTKVKLEQVLKGPEEALVTCRQVLRLWQTLYSFSQLGGLEKDGSFGEGLTMKKQSGM
HLTLPDAHDADSGSRRASSIAASRLEEAMSELTMPSSVLKQGPMQLWTTLEQIWLQAAEL
FMEQQHLKEAGFCIQEAAGLFPTSHSVLYMRGRLAEVKGNLEEAKQLYKEALTVNPDGVR
IMHSLGLMLSRLGHKSLAQKVLRDAVERQSTCHEAWQGLGEVLQAQGQNEAAVDCFLTAL
ELEASSPVLPFSIIPREL

Sequence length

858

Interactions

View interactions

1011

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Gastrointestinal defect and immunodeficiency syndrome	Likely pathogenic; Pathogenic	rs762466884, rs2103966533, rs767965414, rs147914967, rs1181654735, rs2466127403, rs587776972	RCV003155441 RCV002266514 RCV002282917 RCV003226234 RCV002510355 RCV003230802 RCV003226176
Gastrointestinal defects and immunodeficiency syndrome 1	Likely pathogenic; Pathogenic	rs1476031758, rs765653721, rs1558551117, rs948534045, rs751311194, rs779549457, rs762685822, rs587777547, rs587777548, rs587777549, rs587777550, rs587777551, rs886037746, rs886037747, rs777469885 View all (15 more)	RCV002488204 RCV005023130 RCV005023200 RCV003147653 RCV003147667 RCV005032012 RCV005023429 RCV004562281 RCV004562282 RCV004562283 RCV004562284 RCV004562285 RCV004562388 RCV004562389 RCV004562390 RCV004562391 RCV004562392 RCV004562393 RCV004562394 RCV002272204 RCV002272205 RCV003338907 RCV005023588 RCV004562229 RCV004562230 RCV005357987 RCV005029502 RCV005029553 RCV002272413 RCV002272412
Multiple gastrointestinal atresias	Likely pathogenic; Pathogenic	rs751311194, rs1476031758, rs2104231304, rs765653721, rs948534045, rs2104457522, rs2104485613, rs201481224, rs779549457, rs2104019844, rs1300446486, rs756396993, rs2103674254, rs762685822, rs762466884 View all (30 more)	RCV001377227 RCV001383525 RCV001380870 RCV001380324 RCV001780445 RCV001964134 RCV001960154 RCV002035401 RCV001953482 RCV002005793 RCV001963241 RCV002033669 RCV002030656 RCV001930325 RCV001957662 RCV003096347 RCV000170528 RCV000170529 RCV000170530 RCV000170531 RCV000170533 RCV003643029 RCV002755650 RCV002815739 RCV002847574 RCV002885216 RCV002877215 RCV002914300 RCV002937234 RCV003528920 RCV003643715 RCV003643803 RCV000408605 RCV000700986 RCV005089402 RCV000794117 RCV000816659 RCV000815999 RCV005056733 RCV001058591 RCV001052861 RCV001197564 RCV001220533 RCV001215173 RCV001215172
Severe combined immunodeficiency disease	Likely pathogenic; Pathogenic	rs2467087753, rs1670398017	RCV004587869 RCV001732112
TTC7A-related disorder	Likely pathogenic; Pathogenic	rs2466215282, rs587776971	RCV003399975 RCV003415786
Uterine corpus endometrial carcinoma	Likely pathogenic; Pathogenic	rs779549457	RCV005925357

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs6755303, rs6544948	RCV005917320 RCV005920367
Cervical cancer	Benign; Likely benign	rs6755303, rs750558169	RCV005917321 RCV005928250
Cholangiocarcinoma	Benign	rs6544948	RCV005920369
Colon adenocarcinoma	Benign; Likely benign	rs147471840	RCV005901035
Common variable immunodeficiency	Conflicting classifications of pathogenicity	rs150269540, rs1572961263	RCV001027641 RCV001027636
Familial cancer of breast	Uncertain significance	rs951901804	RCV005930551
Gastric cancer	Benign	rs144050892	RCV005910595
Hepatocellular carcinoma	Benign	rs12712986	RCV005920291
Malignant lymphoma, large B-cell, diffuse	Benign	rs12712986	RCV005920292
Malignant tumor of esophagus	Benign	rs144050892	RCV005910594
Nonpapillary renal cell carcinoma	Uncertain significance	rs150405237	RCV005911276
Ovarian cancer	Likely benign	rs765541604	RCV005912696
See cases	Conflicting classifications of pathogenicity	rs762713132	RCV002252309
Squamous cell lung carcinoma	-	rs1233340344	RCV005930205
Thymoma	Benign	rs6755303, rs6544948	RCV005917323 RCV005920368
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Uncertain significance	rs143184428, rs139416474	RCV005901724 RCV005912518
Uterine carcinosarcoma	Benign	rs6755303	RCV005917322

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autoimmune enteropathy	Associate	34985046
Bone Neoplasms	Inhibit	37996444
Cognitive Dysfunction	Associate	25546680
Colitis	Associate	33122718, 34985046
Diarrhea 5 With Tufting Enteropathy Congenital	Associate	32293360
Disease	Associate	27302973
Early Onset Glaucoma	Associate	24417819
Enterocolitis	Associate	24417819, 34985046
Gastritis Atrophic	Associate	34985046
Immunologic Deficiency Syndromes	Inhibit	33122718
Inflammatory Bowel Disease 25 Autosomal Recessive	Associate	24417819, 33122718
Inflammatory Bowel Diseases	Associate	24417819
Intestinal Atresia Multiple	Associate	23423984, 24292712, 25546680, 34975848, 34985046, 35627206
Intestinal Diseases	Associate	34415310, 34975848
Keratosis	Associate	35627206
Multiple Organ Failure	Associate	34975848
Neoplastic Syndromes Hereditary	Associate	25546680
Neurologic Manifestations	Associate	34415310
Prostatic Neoplasms	Associate	37996444
Sepsis	Associate	34975848
Severe Combined Immunodeficiency	Associate	25546680, 34985046
X Linked Combined Immunodeficiency Diseases	Associate	34975848

TTC7A (tetratricopeptide repeat domain 7A)