TTC32

Summary

TTC32 (tetratricopeptide repeat domain 32, HGNC:32954) is a protein-coding gene on chromosome 2p24.1, encoding Tetratricopeptide repeat protein 32 (Q5I0X7).

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 33 total
• MANE Select transcript: NM_001008237

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32954
Approved symbol	TTC32
Name	tetratricopeptide repeat domain 32
Location	2p24.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000183891
Ensembl biotype	protein_coding
Entrez	130502

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 retained_intron

ENST00000333610, ENST00000402414, ENST00000431392, ENST00000495698, ENST00000916781

RefSeq mRNA: 1 — MANE Select: NM_001008237 NM_001008237

CCDS: CCDS33151

Canonical transcript exons

ENST00000333610 — 3 exons

Exon	Start	End
ENSE00001295313	19901706	19901983
ENSE00001313202	19896631	19897126
ENSE00003791128	19897869	19898035

Expression profiles

Bgee: expression breadth ubiquitous, 249 present calls, max score 93.89.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.7320 / max 103.2413, expressed in 1752 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
27066	4.2719	1472
27068	2.7593	1260
27065	2.1948	1022
27064	0.3534	141
27067	0.1527	68

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus epididymis	UBERON:0004359	93.89	gold quality
right uterine tube	UBERON:0001302	93.30	gold quality
right lung	UBERON:0002167	92.70	gold quality
left ovary	UBERON:0002119	92.67	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	92.59	gold quality
monocyte	CL:0000576	92.33	gold quality
cerebellar hemisphere	UBERON:0002245	92.20	gold quality
right ovary	UBERON:0002118	92.09	gold quality
right hemisphere of cerebellum	UBERON:0014890	92.05	gold quality
caput epididymis	UBERON:0004358	92.04	gold quality
body of uterus	UBERON:0009853	92.03	gold quality
tibial nerve	UBERON:0001323	91.99	gold quality
cerebellar cortex	UBERON:0002129	91.98	gold quality
pons	UBERON:0000988	91.74	gold quality
leukocyte	CL:0000738	91.56	gold quality
tibial artery	UBERON:0007610	91.55	gold quality
popliteal artery	UBERON:0002250	91.54	gold quality
metanephros cortex	UBERON:0010533	91.46	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.30	gold quality
skin of leg	UBERON:0001511	91.27	gold quality
left lobe of thyroid gland	UBERON:0001120	91.24	gold quality
cerebellum	UBERON:0002037	91.23	gold quality
lower esophagus muscularis layer	UBERON:0035833	91.23	gold quality
lower esophagus	UBERON:0013473	91.19	gold quality
skin of abdomen	UBERON:0001416	90.95	gold quality
muscle layer of sigmoid colon	UBERON:0035805	90.89	gold quality
spinal cord	UBERON:0002240	90.76	gold quality
upper arm skin	UBERON:0004263	90.74	silver quality
pituitary gland	UBERON:0000007	90.68	gold quality
endocervix	UBERON:0000458	90.67	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.11

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

25 targeting TTC32, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-379-3P	99.69	69.60	1524
HSA-MIR-411-3P	99.69	69.63	1524
HSA-MIR-580-3P	99.67	69.23	1841
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-12132	99.47	68.90	1341
HSA-MIR-7158-5P	99.25	67.95	796
HSA-MIR-548AS-3P	99.12	69.12	2294
HSA-MIR-7705	98.69	67.47	543
HSA-MIR-603	98.58	68.28	1603
HSA-MIR-708-3P	97.50	68.67	1082
HSA-MIR-4714-3P	96.53	67.44	452

Literature-anchored findings (GeneRIF, showing 1)

• Association study of genetic variants at TTC32-WDR35 gene cluster with coronary artery disease in Chinese Han population. (PMID:33009702)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	ttc32	ENSDARG00000069241
mus_musculus	Ttc32	ENSMUSG00000066637
rattus_norvegicus	Ttc32	ENSRNOG00000049088
drosophila_melanogaster	Sgt	FBGN0032640
drosophila_melanogaster	unc-45	FBGN0288846
caenorhabditis_elegans		WBGENE00006781

Paralogs (18): RPAP3 (ENSG00000005175), TOMM34 (ENSG00000025772), ST13 (ENSG00000100380), STUB1 (ENSG00000103266), SPAG1 (ENSG00000104450), SGTA (ENSG00000104969), TTC1 (ENSG00000113312), TTC31 (ENSG00000115282), UNC45A (ENSG00000140553), UNC45B (ENSG00000141161), SPATA16 (ENSG00000144962), TTC12 (ENSG00000149292), TOMM70 (ENSG00000154174), SUGT1 (ENSG00000165416), STIP1 (ENSG00000168439), SGTB (ENSG00000197860), TTC4 (ENSG00000243725), DNAAF4 (ENSG00000256061)

Protein

Protein identifiers

Tetratricopeptide repeat protein 32 — Q5I0X7 (reviewed: Q5I0X7)

All UniProt accessions (3): B5MCJ1, C9JV54, Q5I0X7

RefSeq proteins (1): NP_001008238* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR019734	TPR_rpt	Repeat

Pfam: PF00515, PF13181, PF13432

UniProt features (4 total): repeat 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5I0X7-F1	92.03	0.81

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 85 (showing top): ACEVEDO_LIVER_CANCER_UP, MARSON_BOUND_BY_E2F4_UNSTIMULATED, KOYAMA_SEMA3B_TARGETS_DN, JOHNSTONE_PARVB_TARGETS_3_DN, GSE5503_MLN_DC_VS_SPLEEN_DC_ACTIVATED_ALLOGENIC_TCELL_DN, BANP_TARGET_GENES, CDC5L_TARGET_GENES, DIDO1_TARGET_GENES, DLX4_TARGET_GENES, HHEX_TARGET_GENES, HSF2_TARGET_GENES, ID1_TARGET_GENES, NKX2_2_TARGET_GENES, OVOL3_TARGET_GENES, PITX1_TARGET_GENES

GO Biological Process (0):

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

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

1162 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TTC32	WDR35	Q9P2L0	650
TTC32	TSBP1	Q5SRN2	591
TTC32	GUCY1A1	Q02108	558
TTC32	CHST9	Q7L1S5	527
TTC32	BTNL2	Q9UIR0	508
TTC32	ADTRP	Q96IZ2	507
TTC32	ATP2B1	P20020	499
TTC32	HECTD4	Q9Y4D8	487
TTC32	ERICH6	Q7L0X2	464
TTC32	APOB	P04114	463
TTC32	LRCH2	Q5VUJ6	451
TTC32	COMMD4	Q9H0A8	437
TTC32	PHACTR1	Q9C0D0	417
TTC32	TTC13	Q8NBP0	403
TTC32	TTC31	Q49AM3	400

IntAct

28 interactions, top by confidence:

A	B	Type	Score
TTC32	ZNF18	psi-mi:“MI:0915”(physical association)	0.560
TTC32	FBF1	psi-mi:“MI:0915”(physical association)	0.560
TTC32	ARID3A	psi-mi:“MI:0915”(physical association)	0.560
PRDM14	TTC32	psi-mi:“MI:0915”(physical association)	0.560
TRIM39	TTC32	psi-mi:“MI:0915”(physical association)	0.560
TTC32	ZNF219	psi-mi:“MI:0915”(physical association)	0.560
MAGED1	TTC32	psi-mi:“MI:0915”(physical association)	0.560
ZNF18	TTC32	psi-mi:“MI:0915”(physical association)	0.560
TTC32	TRIM39	psi-mi:“MI:0915”(physical association)	0.560
TTC32	TXN2	psi-mi:“MI:0915”(physical association)	0.560
TTC32	ZNF18	psi-mi:“MI:0915”(physical association)	0.370
MYOG	TTC32	psi-mi:“MI:0915”(physical association)	0.370
ATXN7L1	ELP1	psi-mi:“MI:0914”(association)	0.350
TXN2	TTC32	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (12): TTC32 (Two-hybrid), TTC32 (Two-hybrid), TTC32 (Two-hybrid), TTC32 (Two-hybrid), TTC32 (Two-hybrid), TTC32 (Two-hybrid), TTC32 (Two-hybrid), NCAPH2 (Two-hybrid), MYOG (Two-hybrid), TTC32 (Two-hybrid), ATXN7L1 (Affinity Capture-MS), TTC32 (Affinity Capture-Luminescence)

ESM2 similar proteins: A0A2H5Q1B8, A2WYG9, B0M1H3, E7BQV0, F4HSX9, F4IXE4, F4JBP3, F4JS25, O23052, O49711, O81629, P82805, P93002, Q0WVX5, Q2QTC2, Q32NR4, Q4R6M4, Q4V7F0, Q5I0X7, Q5JJI4, Q5M990, Q5PR66, Q5W5X9, Q620W3, Q66GN3, Q6AYP3, Q6NQ81, Q6Q4D0, Q80VM3, Q84JR9, Q8GYL7, Q8GZN1, Q8NA56, Q8S8L9, Q9C744, Q9CAA7, Q9CB03, Q9D4B2, Q9FGN7, Q9FIG9

Diamond homologs: Q5I0X7, Q9DAC7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	28
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

431 predictions. Top by Δscore:

Variant	Effect	Δscore
2:19897140:C:CT	acceptor_gain	1.0000
2:19897141:A:T	acceptor_gain	1.0000
2:19897146:A:C	acceptor_gain	1.0000
2:19897863:TCTTA:T	donor_loss	1.0000
2:19897864:CTTA:C	donor_loss	1.0000
2:19897865:TTA:T	donor_loss	1.0000
2:19897866:TAC:T	donor_loss	1.0000
2:19897867:A:AC	donor_gain	1.0000
2:19897867:A:T	donor_loss	1.0000
2:19897867:AC:A	donor_gain	1.0000
2:19897868:C:CC	donor_gain	1.0000
2:19897868:CC:C	donor_gain	1.0000
2:19897868:CCCAG:C	donor_gain	1.0000
2:19898033:T:TC	acceptor_gain	1.0000
2:19898036:C:CC	acceptor_gain	1.0000
2:19901707:T:TA	donor_gain	1.0000
2:19901708:C:A	donor_gain	1.0000
2:19897133:C:CT	acceptor_gain	0.9900
2:19897134:A:T	acceptor_gain	0.9900
2:19897140:C:T	acceptor_gain	0.9900
2:19897146:A:AC	acceptor_gain	0.9900
2:19897871:AG:A	donor_gain	0.9900
2:19897910:T:TA	donor_gain	0.9900
2:19897928:T:TA	donor_gain	0.9900
2:19898031:ATTTG:A	acceptor_gain	0.9900
2:19898032:TTTG:T	acceptor_gain	0.9900
2:19898033:T:C	acceptor_gain	0.9900
2:19898034:TG:T	acceptor_gain	0.9900
2:19898036:CTTTA:C	acceptor_loss	0.9900
2:19898037:T:C	acceptor_gain	0.9900

AlphaMissense

999 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:19897992:C:A	G65W	0.996
2:19897889:C:T	G99E	0.995
2:19897890:C:A	G99W	0.995
2:19897991:C:T	G65E	0.995
2:19897890:C:G	G99R	0.993
2:19897890:C:T	G99R	0.993
2:19897991:C:A	G65V	0.992
2:19897883:A:T	I101K	0.991
2:19897956:C:G	A77P	0.990
2:19897992:C:G	G65R	0.990
2:19897992:C:T	G65R	0.990
2:19897935:C:G	A84P	0.988
2:19897111:G:T	A111D	0.986
2:19897891:T:A	R98S	0.986
2:19897891:T:G	R98S	0.986
2:19897934:G:T	A84D	0.985
2:19897060:G:T	A128D	0.984
2:19897112:C:G	A111P	0.983
2:19897892:C:G	R98T	0.983
2:19897050:G:C	S131R	0.982
2:19897050:G:T	S131R	0.982
2:19897052:T:G	S131R	0.982
2:19897883:A:C	I101R	0.981
2:19897889:C:A	G99V	0.980
2:19897892:C:A	R98I	0.980
2:19897955:G:T	A77D	0.978
2:19897068:A:C	F125L	0.974
2:19897068:A:T	F125L	0.974
2:19897070:A:G	F125L	0.974
2:19897873:C:A	R104S	0.972

dbSNP variants (sampled 300 via entrez): RS1000167483 (2:19897584 C>A,G), RS1000486709 (2:19903745 A>G), RS1000732187 (2:19903447 C>T), RS1000994132 (2:19901927 C>T), RS1001222310 (2:19902163 C>T), RS1001697847 (2:19899645 T>A,C), RS1001831876 (2:19898380 A>G), RS1002169727 (2:19899333 A>G), RS1002216896 (2:19902763 T>C), RS1002278978 (2:19902588 C>G,T), RS1002536276 (2:19896670 T>C), RS1003124998 (2:19903786 A>G), RS1003240932 (2:19899722 A>G), RS1003438070 (2:19900686 G>A), RS1003775447 (2:19900925 T>C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST001587_4	Coronary heart disease	7.000000e-11
GCST003996_38	Monobrow	3.000000e-17
GCST009391_1896	Metabolite levels	7.000000e-06
GCST010479_55	Coronary artery disease	1.000000e-13
GCST011365_59	Myocardial infarction	4.000000e-11

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007906	synophrys measurement
EFO:0010453	adenosine measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, increases expression	6
trichostatin A	affects cotreatment, decreases expression	2
Air Pollutants	affects expression, increases abundance, decreases expression	2
Estradiol	affects cotreatment, decreases expression	2
Cyclosporine	decreases expression	2
Aflatoxin B1	affects expression, decreases methylation	2
dicrotophos	decreases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Sunitinib	decreases expression	1
Carbamazepine	affects expression	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects expression, increases abundance	1
Sodium Dodecyl Sulfate	increases expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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