TTC7B

gene
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Summary

TTC7B (tetratricopeptide repeat domain 7B, HGNC:19858) is a protein-coding gene on chromosome 14q32.11, encoding Tetratricopeptide repeat protein 7B (Q86TV6). Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane.

Involved in phosphatidylinositol phosphate biosynthetic process and protein localization to plasma membrane. Located in cytosol and plasma membrane.

Source: NCBI Gene 145567 — RefSeq curated summary.

At a glance

  • GWAS associations: 10
  • Clinical variants (ClinVar): 133 total
  • MANE Select transcript: NM_001010854

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:19858
Approved symbolTTC7B
Nametetratricopeptide repeat domain 7B
Location14q32.11
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000165914
Ensembl biotypeprotein_coding
OMIM620060
Entrez145567

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 12 protein_coding, 4 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay, 2 retained_intron

ENST00000328459, ENST00000553948, ENST00000553972, ENST00000554462, ENST00000554654, ENST00000555005, ENST00000555239, ENST00000555894, ENST00000556490, ENST00000556749, ENST00000556960, ENST00000557059, ENST00000557187, ENST00000557292, ENST00000557766, ENST00000919976, ENST00000919977, ENST00000963264, ENST00000963265, ENST00000963266

RefSeq mRNA: 3 — MANE Select: NM_001010854 NM_001010854, NM_001320421, NM_001401365

CCDS: CCDS32140

Canonical transcript exons

ENST00000328459 — 20 exons

ExonStartEnd
ENSE000009411259065830490658387
ENSE000012144629067652390676660
ENSE000012977059068047290680535
ENSE000012988199069550090695578
ENSE000013176529068954090689712
ENSE000013888039074479290744922
ENSE000013904579073007590730196
ENSE000014342059052456490541589
ENSE000026933209081617590816430
ENSE000034775149078617490786328
ENSE000035221809078073890780906
ENSE000035223779065717490657278
ENSE000035308189057810690578308
ENSE000035492999061792990618045
ENSE000035775969065499390655110
ENSE000035868999059348690593626
ENSE000035990489061074290610839
ENSE000036789489064695190647023
ENSE000036899399064404890644208
ENSE000037887749065284190652898

Expression profiles

Bgee: expression breadth ubiquitous, 245 present calls, max score 98.42.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.2648 / max 169.5902, expressed in 1682 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
1444718.80441678
1444720.4604236

Top tissues by expression

254 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
lateral nuclear group of thalamusUBERON:000273698.42gold quality
cerebellar cortexUBERON:000212998.26gold quality
cerebellar hemisphereUBERON:000224598.26gold quality
right hemisphere of cerebellumUBERON:001489098.17gold quality
cerebellumUBERON:000203797.95gold quality
prefrontal cortexUBERON:000045197.51gold quality
anterior cingulate cortexUBERON:000983597.38gold quality
right frontal lobeUBERON:000281097.19gold quality
cerebellar vermisUBERON:000472096.91gold quality
amygdalaUBERON:000187696.57gold quality
Brodmann (1909) area 9UBERON:001354096.53gold quality
frontal cortexUBERON:000187096.24gold quality
dorsolateral prefrontal cortexUBERON:000983496.13gold quality
neocortexUBERON:000195096.09gold quality
nucleus accumbensUBERON:000188295.63gold quality
cerebral cortexUBERON:000095695.27gold quality
gastrocnemiusUBERON:000138895.16gold quality
hypothalamusUBERON:000189895.10gold quality
caudate nucleusUBERON:000187394.85gold quality
putamenUBERON:000187494.82gold quality
muscle of legUBERON:000138394.78gold quality
Ammon’s hornUBERON:000195494.78gold quality
brainUBERON:000095594.68gold quality
ponsUBERON:000098894.57gold quality
forebrainUBERON:000189094.37gold quality
temporal lobeUBERON:000187194.20gold quality
lower esophagus muscularis layerUBERON:003583394.15gold quality
ventricular zoneUBERON:000305394.09gold quality
lower esophagusUBERON:001347394.08gold quality
lateral globus pallidusUBERON:000247694.00gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-MTAB-7303yes23.43
E-ANND-3yes7.29
E-MTAB-6678no4.73

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

67 targeting TTC7B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-5692A100.0074.406850
HSA-MIR-126-5P100.0072.713180
HSA-MIR-4795-3P100.0074.624024
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-1213699.9872.815713
HSA-MIR-493-5P99.9672.472382
HSA-MIR-1250-3P99.9670.044038
HSA-MIR-548AT-5P99.9670.832666
HSA-MIR-548AA99.9670.643753
HSA-MIR-548AP-3P99.9670.643753
HSA-MIR-548T-3P99.9670.643753
HSA-MIR-23A-3P99.9574.243163
HSA-MIR-23B-3P99.9574.243163
HSA-MIR-23C99.9573.923192
HSA-MIR-651-3P99.9473.485177
HSA-MIR-1-3P99.9372.351914
HSA-MIR-20699.9372.501893
HSA-MIR-6721-5P99.9368.922981
HSA-MIR-61399.9171.501710
HSA-MIR-153-5P99.8973.866317
HSA-MIR-7162-3P99.8968.161682
HSA-MIR-449299.8768.253611
HSA-MIR-3151-5P99.8663.831069
HSA-MIR-659-3P99.8570.691620
HSA-MIR-684499.8270.692423
HSA-MIR-4645-3P99.7669.33993
HSA-MIR-5002-5P99.7670.841763
HSA-MIR-92A-2-5P99.7567.012164
HSA-MIR-5004-5P99.6866.631294
HSA-MIR-545-5P99.6670.182308

Literature-anchored findings (GeneRIF, showing 3)

  • associated with IS risk in the Spanish and combined data sets. Multiple independent lines of evidence therefore support the role of TTC7B in stroke susceptibility (PMID:22453632)
  • 14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients. (PMID:33634591)
  • TTC7B is a new prognostic biomarker in head and neck squamous cell carcinoma linked to immune infiltration and ferroptosis. (PMID:37990988)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriottc7bENSDARG00000061207
mus_musculusTtc7bENSMUSG00000033530
rattus_norvegicusTtc7bENSRNOG00000027300
caenorhabditis_elegansWBGENE00021444

Paralogs (14): IFT88 (ENSG00000032742), TTC7A (ENSG00000068724), TMTC4 (ENSG00000125247), TMTC1 (ENSG00000133687), TMTC3 (ENSG00000139324), TTC6 (ENSG00000139865), BBS4 (ENSG00000140463), TTC13 (ENSG00000143643), OGT (ENSG00000147162), CFAP70 (ENSG00000156042), TTC8 (ENSG00000165533), TTC16 (ENSG00000167094), TMTC2 (ENSG00000179104), TTC34 (ENSG00000215912)

Protein

Protein identifiers

Tetratricopeptide repeat protein 7BQ86TV6 (reviewed: Q86TV6)

Alternative names: Tetratricopeptide repeat protein 7-like-1

All UniProt accessions (9): A0A0C4DGK5, Q86TV6, G3V3E4, G3V3H1, H0YIZ4, H0YJP9, H0YJS2, H0YK02, Q6PIF1

UniProt curated annotations — full annotation on UniProt →

Function. Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis. In the complex, plays a central role in bridging PI4KA to EFR3B and HYCC1, via direct interactions.

Subunit / interactions. Component of a phosphatidylinositol 4-kinase (PI4K) complex, composed of PI4KA, EFR3 (EFR3A or EFR3B), TTC7 (TTC7A or TTC7B) and HYCC (HYCC1 or HYCC2). Interacts with PI4KA, interaction is direct. Interacts with EFR3 (EFR3A or EFR3B), interaction is direct. Interacts with HYCC (HYCC1 or HYCC2), interaction is direct. Association with the PI4K complex is strongly reduced by TMEM150A.

Subcellular location. Cytoplasm. Cytosol. Cell membrane.

Isoforms (2)

UniProt IDNamesCanonical?
Q86TV6-11yes
Q86TV6-22

RefSeq proteins (3): NP_001010854, NP_001307350, NP_001388294 (=MANE)

Domains & families (InterPro)

IDNameType
IPR011990TPR-like_helical_dom_sfHomologous_superfamily
IPR019734TPR_rptRepeat
IPR045819TTC7_NDomain
IPR051722Endocytosis_PI4K-reg_proteinFamily

Pfam: PF12895, PF13181, PF13424, PF19440

UniProt features (65 total): helix 37, repeat 11, modified residue 9, turn 5, chain 1, splice variant 1, strand 1

Structure

Experimental structures (PDB)

5 structures.

PDBMethodResolution (Å)
5DSEX-RAY DIFFRACTION2.9
9B9GELECTRON MICROSCOPY3.5
9OT6ELECTRON MICROSCOPY3.54
6BQ1ELECTRON MICROSCOPY3.6
9BAXELECTRON MICROSCOPY3.65

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q86TV6-F185.550.62

Antibody-complex structures (SAbDab): 19OT6

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (9): 160, 202, 625, 629, 630, 673, 677, 678, 681

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 149 (showing top): GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, CACCAGC_MIR138, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, ATGTTAA_MIR302C, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, ACATTCC_MIR1_MIR206, GOBP_GLYCEROLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS, GOBP_LOCALIZATION_WITHIN_MEMBRANE

GO Biological Process (2): phosphatidylinositol phosphate biosynthetic process (GO:0046854), protein localization to plasma membrane (GO:0072659)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (4): cytosol (GO:0005829), plasma membrane (GO:0005886), cytoplasm (GO:0005737), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure3
glycerophospholipid biosynthetic process1
protein localization to membrane1
protein localization to cell periphery1
binding1
cytoplasm1
membrane1
cell periphery1
intracellular anatomical structure1

Protein interactions and networks

STRING

766 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
TTC7BHYCC1Q9BYI3938
TTC7BEFR3BQ9Y2G0875
TTC7BTMEM150AQ86TG1666
TTC7BEFR3AQ14156630
TTC7BPI4KAP42356621
TTC7BHYCC2Q8IXS8565
TTC7BPI4KBP78405532
TTC7BTMED6Q8WW62493
TTC7BLARGE2Q8N3Y3476
TTC7BTEX2Q8IWB9475
TTC7BNCS1P36610472
TTC7BCOPZ2Q9P299468
TTC7BSH3GLB2Q9NR46461
TTC7BNKIRAS1Q9NYS0449
TTC7BFAM181AQ8N9Y4443

IntAct

36 interactions, top by confidence:

ABTypeScore
TTC7BHYCC1psi-mi:“MI:0915”(physical association)0.560
TTC7BHYCC2psi-mi:“MI:0915”(physical association)0.560
TTC7BCOG6psi-mi:“MI:0915”(physical association)0.560
TTC7BRAB3IL1psi-mi:“MI:0915”(physical association)0.560
TTC7BRUSC1psi-mi:“MI:0915”(physical association)0.560
CD226MEN1psi-mi:“MI:0914”(association)0.530
GPC1SNAP23psi-mi:“MI:0915”(physical association)0.400
GPC1GANABpsi-mi:“MI:0915”(physical association)0.400
CUL3PXDNLpsi-mi:“MI:0914”(association)0.350
RGS20PGPpsi-mi:“MI:0914”(association)0.350
PI4KAEFR3Apsi-mi:“MI:0914”(association)0.350
DGCR2CCDC85Cpsi-mi:“MI:0914”(association)0.350
CENPMDNM1Lpsi-mi:“MI:0914”(association)0.350
RGS20KIF3Bpsi-mi:“MI:0914”(association)0.350
CIMIP5PI4KApsi-mi:“MI:0914”(association)0.350
PI4KAGCLMpsi-mi:“MI:0914”(association)0.350
POU3F1DUSP3psi-mi:“MI:0914”(association)0.350
CTDSPLESYT2psi-mi:“MI:2364”(proximity)0.270
CFTRUBA6psi-mi:“MI:2364”(proximity)0.270
KCNK3ESYT2psi-mi:“MI:2364”(proximity)0.270
TTC7BHYCC2psi-mi:“MI:0915”(physical association)0.000
TTC7BCOG6psi-mi:“MI:0915”(physical association)0.000
TTC7BHYCC1psi-mi:“MI:0915”(physical association)0.000
RAB3IL1TTC7Bpsi-mi:“MI:0915”(physical association)0.000
TTC7BRUSC1psi-mi:“MI:0915”(physical association)0.000

BioGRID (32): TTC7B (Proximity Label-MS), TTC7B (Affinity Capture-MS), TTC7B (Two-hybrid), TTC7B (Two-hybrid), TTC7B (Two-hybrid), TTC7B (Two-hybrid), RAB3IL1 (Two-hybrid), TTC7B (Affinity Capture-MS), TTC7B (Proximity Label-MS), TTC7B (Proximity Label-MS), TTC7B (Affinity Capture-MS), TTC7B (Affinity Capture-MS), TTC7B (Affinity Capture-MS), TTC7B (Affinity Capture-MS), TTC7B (Affinity Capture-MS)

ESM2 similar proteins: A1A5P5, A1L1K3, A7SUU7, B4JHK2, B4NKT1, E9Q6P5, F1QN74, P09913, P50748, Q0P5W1, Q14CX7, Q294E0, Q2KI89, Q32NR4, Q32PH0, Q3U0M1, Q4R6I5, Q4R6M4, Q5R629, Q5RE52, Q5U249, Q5ZKK3, Q60462, Q68F70, Q6AYP3, Q6PA97, Q6QI44, Q80VM3, Q86TV6, Q8BGB2, Q8BH74, Q8BTZ4, Q8BWZ3, Q8C0S4, Q8CIM8, Q8GZN1, Q8IYW2, Q8JGR7, Q8K368, Q8N3P4

Diamond homologs: E9Q6P5, Q86TV6, Q8BGB2, Q9ULT0, A1Z8E9, P39143, Q1JQ97, Q28G25, Q5CZ52, Q8C1Z7, Q96RK4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

133 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance116
Likely benign2
Benign3

Top pathogenic / likely-pathogenic (0)

SpliceAI

5630 predictions. Top by Δscore:

VariantEffectΔscore
14:90530573:T:Cacceptor_gain1.0000
14:90530573:T:TCacceptor_gain1.0000
14:90644044:TTA:Tdonor_loss1.0000
14:90644045:TACAT:Tdonor_loss1.0000
14:90644046:A:ACdonor_gain1.0000
14:90644046:A:AGdonor_loss1.0000
14:90644047:C:CGdonor_gain1.0000
14:90644047:CA:Cdonor_gain1.0000
14:90644047:CAT:Cdonor_gain1.0000
14:90644047:CATG:Cdonor_gain1.0000
14:90644047:CATGA:Cdonor_gain1.0000
14:90644204:GGGAT:Gacceptor_gain1.0000
14:90644205:GGAT:Gacceptor_gain1.0000
14:90644205:GGATC:Gacceptor_gain1.0000
14:90644206:GAT:Gacceptor_gain1.0000
14:90644206:GATC:Gacceptor_gain1.0000
14:90644207:AT:Aacceptor_gain1.0000
14:90644207:ATC:Aacceptor_gain1.0000
14:90644208:TC:Tacceptor_gain1.0000
14:90644209:C:CCacceptor_gain1.0000
14:90644209:CTG:Cacceptor_gain1.0000
14:90644210:T:Aacceptor_loss1.0000
14:90644210:T:Gacceptor_gain1.0000
14:90644212:G:GCacceptor_gain1.0000
14:90644213:T:TCacceptor_gain1.0000
14:90644214:T:Cacceptor_gain1.0000
14:90644214:T:TCacceptor_gain1.0000
14:90644220:C:CTacceptor_gain1.0000
14:90655111:C:CCacceptor_gain1.0000
14:90657168:ACT:Adonor_loss1.0000

AlphaMissense

5441 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
14:90644138:A:GL554P1.000
14:90655022:C:TG477E1.000
14:90655023:C:AG477W1.000
14:90655023:C:GG477R1.000
14:90655023:C:TG477R1.000
14:90658320:A:GL407P1.000
14:90676569:A:GL369P1.000
14:90680488:A:GL333P1.000
14:90689696:A:GL265P1.000
14:90695548:T:AR243S1.000
14:90695548:T:GR243S1.000
14:90695549:C:AR243I1.000
14:90695549:C:GR243T1.000
14:90816229:A:GW23R1.000
14:90816229:A:TW23R1.000
14:90541420:A:GL827P0.999
14:90541499:A:GW801R0.999
14:90541499:A:TW801R0.999
14:90578206:C:TG737D0.999
14:90578252:C:GA722P0.999
14:90593498:A:GW699R0.999
14:90593498:A:TW699R0.999
14:90617960:A:GW613R0.999
14:90617960:A:TW613R0.999
14:90617968:A:GL610P0.999
14:90644126:A:GL558P0.999
14:90644129:A:GL557P0.999
14:90644135:A:GL555P0.999
14:90644199:C:GA534P0.999
14:90646955:C:AR529I0.999

dbSNP variants (sampled 300 via entrez): RS1000008122 (14:90595038 T>C), RS1000011347 (14:90540727 T>C), RS1000011448 (14:90556214 T>C), RS1000030651 (14:90626372 C>T), RS1000065861 (14:90601396 A>C), RS1000071397 (14:90686398 C>T), RS1000071849 (14:90799588 C>G,T), RS1000071957 (14:90729776 G>A), RS1000078934 (14:90692965 A>T), RS1000083776 (14:90778698 G>A), RS1000085598 (14:90533944 C>A,T), RS1000088273 (14:90548399 G>A,T), RS1000094617 (14:90713943 A>T), RS1000095427 (14:90736150 C>A), RS1000100458 (14:90686019 A>G)

Disease associations

OMIM: gene MIM:620060 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

10 associations (top):

StudyTraitp-value
GCST001272_9Cytomegalovirus antibody response9.000000e-06
GCST002696_1Anxiety disorder6.000000e-06
GCST004097_2Response to platinum-based neoadjuvant chemotherapy in cervical cancer7.000000e-06
GCST004862_28Itch intensity from mosquito bite adjusted by bite size6.000000e-06
GCST005956_47Waist-to-hip ratio adjusted for BMI7.000000e-07
GCST005962_28Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)7.000000e-07
GCST007505_12Nevus count or cutaneous melanoma4.000000e-07
GCST007672_73-month functional outcome in ischaemic stroke (modified Rankin score)3.000000e-06
GCST011768_11Schizophrenia6.000000e-09
GCST90026412_4Severe autoimmune type 2 diabetes4.000000e-06

EFO canonical traits (8, from GWAS)

EFO IDTrait name
EFO:0007943response to platinum-based neoadjuvant chemotherapy
EFO:0008377mosquito bite reaction itch intensity measurement
EFO:0008378mosquito bite reaction size measurement
EFO:0007788BMI-adjusted waist-hip ratio
EFO:0008007age at assessment
EFO:0008343sex interaction measurement
EFO:0004632nevus count
EFO:0009603stroke outcome severity measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

48 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneaffects methylation, decreases expression6
bisphenol Aincreases expression, increases methylation, affects cotreatment, decreases methylation, decreases expression4
Aflatoxin B1affects expression, affects methylation, decreases expression4
methylmercuric chlorideaffects cotreatment, increases expression3
Cyclosporineincreases expression3
Air Pollutantsincreases abundance, increases expression, decreases expression2
Rotenoneincreases expression2
Valproic Acidincreases expression, affects expression2
Particulate Matterincreases abundance, increases expression, decreases expression2
aristolochic acid Idecreases expression1
FR900359affects phosphorylation1
bisphenol Fincreases methylation, affects cotreatment1
2,4,6-tribromophenoldecreases expression1
methyleugenoldecreases expression1
triphenyl phosphateaffects expression1
pirinixic acidaffects binding, increases activity, increases expression1
tris(2-butoxyethyl) phosphateaffects expression1
sodium arseniteincreases expression1
zinc chromatedecreases expression, increases abundance1
aflatoxin B2increases methylation1
acetochloraffects methylation, increases abundance1
avobenzoneincreases expression1
di-n-butylphosphoric acidaffects expression1
chromium hexavalent iondecreases expression, increases abundance1
2-palmitoylglycerolincreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
dorsomorphinaffects cotreatment, increases expression1
pentabrominated diphenyl ether 100increases expression1
hexabrominated diphenyl ether 153increases expression1
jinfukangaffects cotreatment, decreases expression1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_D9V6Ubigene HEK293 TTC7B KOTransformed cell lineFemale

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): anxiety disorder, cutaneous melanoma