TTC34

Summary

TTC34 (tetratricopeptide repeat domain 34, HGNC:34297) is a protein-coding gene on chromosome 1p36.32, encoding Tetratricopeptide repeat protein 34 (A8MYJ7).

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 149 total
• MANE Select transcript: NM_001242672

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34297
Approved symbol	TTC34
Name	tetratricopeptide repeat domain 34
Location	1p36.32
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000215912
Ensembl biotype	protein_coding
Entrez	100287898

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000401095, ENST00000637179

RefSeq mRNA: 1 — MANE Select: NM_001242672 NM_001242672

CCDS: CCDS55565

Canonical transcript exons

ENST00000401095 — 9 exons

Exon	Start	End
ENSE00001546398	2785819	2786023
ENSE00001546399	2787481	2787706
ENSE00001546401	2644264	2644478
ENSE00001546402	2645293	2645563
ENSE00003490037	2783609	2783775
ENSE00003794207	2789503	2790346
ENSE00003797085	2800044	2800868
ENSE00003978301	2801577	2801693
ENSE00003978302	2636986	2641895

Expression profiles

Bgee: expression breadth ubiquitous, 109 present calls, max score 77.98.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	77.98	gold quality
left testis	UBERON:0004533	65.88	gold quality
right testis	UBERON:0004534	65.69	gold quality
testis	UBERON:0000473	64.76	gold quality
right lobe of thyroid gland	UBERON:0001119	60.84	gold quality
fallopian tube	UBERON:0003889	60.65	gold quality
thyroid gland	UBERON:0002046	60.51	gold quality
left lobe of thyroid gland	UBERON:0001120	60.45	gold quality
colonic epithelium	UBERON:0000397	58.72	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	58.49	gold quality
sural nerve	UBERON:0015488	57.39	silver quality
ventricular zone	UBERON:0003053	56.74	gold quality
cortex of kidney	UBERON:0001225	55.83	gold quality
metanephros cortex	UBERON:0010533	55.77	gold quality
bone marrow cell	CL:0002092	55.72	gold quality
left ovary	UBERON:0002119	54.77	gold quality
right ovary	UBERON:0002118	54.74	gold quality
ovary	UBERON:0000992	54.69	gold quality
right lung	UBERON:0002167	54.30	gold quality
left uterine tube	UBERON:0001303	54.09	gold quality
caudate nucleus	UBERON:0001873	52.59	gold quality
bone marrow	UBERON:0002371	52.58	gold quality
pituitary gland	UBERON:0000007	52.52	gold quality
adenohypophysis	UBERON:0002196	52.52	gold quality
stromal cell of endometrium	CL:0002255	51.97	silver quality
apex of heart	UBERON:0002098	51.85	gold quality
endocervix	UBERON:0000458	51.84	gold quality
temporal lobe	UBERON:0001871	51.61	gold quality
Ammon’s horn	UBERON:0001954	51.55	gold quality
amygdala	UBERON:0001876	51.52	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.32

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ttc34	ENSDARG00000091221
mus_musculus	Ttc34	ENSMUSG00000046637
rattus_norvegicus	Ttc34	ENSRNOG00000024526

Paralogs (14): IFT88 (ENSG00000032742), TTC7A (ENSG00000068724), TMTC4 (ENSG00000125247), TMTC1 (ENSG00000133687), TMTC3 (ENSG00000139324), TTC6 (ENSG00000139865), BBS4 (ENSG00000140463), TTC13 (ENSG00000143643), OGT (ENSG00000147162), CFAP70 (ENSG00000156042), TTC8 (ENSG00000165533), TTC7B (ENSG00000165914), TTC16 (ENSG00000167094), TMTC2 (ENSG00000179104)

Protein

Protein identifiers

Tetratricopeptide repeat protein 34 — A8MYJ7 (reviewed: A8MYJ7)

All UniProt accessions (2): A8MYJ7, A0A1C7CYW7

RefSeq proteins (1): NP_001229601* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR019734	TPR_rpt	Repeat
IPR042161	TTC34	Family

Pfam: PF13181, PF13432

UniProt features (10 total): repeat 8, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8MYJ7-F1	87.36	0.66

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 13 (showing top): GAUSSMANN_MLL_AF4_FUSION_TARGETS_G_UP, chr1p36, MEISSNER_NPC_HCP_WITH_H3K4ME2, NFKBIA_TARGET_GENES, PBXIP1_TARGET_GENES, DESCARTES_MAIN_FETAL_CILIATED_EPITHELIAL_CELLS, DESCARTES_FETAL_LUNG_CILIATED_EPITHELIAL_CELLS, CC2D1A_TARGET_GENES, MYOCD_TARGET_GENES, GSE31082_DN_VS_CD8_SP_THYMOCYTE_DN, GSE3691_CONVENTIONAL_VS_PLASMACYTOID_DC_SPLEEN_DN, GSE3994_WT_VS_PAC1_KO_ACTIVATED_MAST_CELL_UP, GSE6875_TCONV_VS_TREG_DN

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

280 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TTC34	KIAA1958	Q8N8K9	536
TTC34	FHAD1	B1AJZ9	484
TTC34	SPDYE3	A6NKU9	445
TTC34	B9ZVM9	B9ZVM9	419
TTC34	ZNF385B	Q569K4	401
TTC34	LRRC23	Q53EV4	390
TTC34	ZNF76	P36508	389
TTC34	PRSS36	Q5K4E3	381
TTC34	TTC33	Q6PID6	379
TTC34	RBFOX1	Q9NWB1	376
TTC34	BTBD16	Q32M84	375
TTC34	ZNF646	O15015	370
TTC34	CCDC116	Q8IYX3	368
TTC34	PPIL2	Q13356	368
TTC34	ZNF546	Q86UE3	360

IntAct

3 interactions, top by confidence:

A	B	Type	Score
CAND1	GTPBP10	psi-mi:“MI:0914”(association)	0.350
PPP4C	TTC34	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (2): TTC34 (Affinity Capture-MS), TTC34 (Affinity Capture-MS)

ESM2 similar proteins: A0A061IR73, A0A1B0GUU1, A6H687, A8MYJ7, B1WC39, D3ZVB0, E1BD59, G3MY25, G3MZC5, O75064, P07199, P27790, P29597, P48988, P52333, P52824, Q08DF2, Q0VCE3, Q13608, Q1JPD6, Q2VPB7, Q3TAP4, Q3U1Y4, Q3ZBE0, Q499M4, Q53EQ6, Q5JZY3, Q62137, Q63272, Q6B0B8, Q6DI92, Q6ZPS2, Q6ZS72, Q7TM95, Q80VI1, Q86UT6, Q8BYG9, Q8N9M5, Q8R5G7, Q8TE96

Diamond homologs: A8MYJ7, Q5PPS5, Q8C0Q3, A4K2V0, Q15785

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	129
Likely benign	13
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

3294 predictions. Top by Δscore:

Variant	Effect	Δscore
1:2785814:CCTA:C	donor_loss	1.0000
1:2785815:CTAC:C	donor_loss	1.0000
1:2785816:TAC:T	donor_loss	1.0000
1:2785818:C:CG	donor_loss	1.0000
1:2785818:CCTG:C	donor_gain	1.0000
1:2785857:T:TA	donor_gain	1.0000
1:2786019:ACCAA:A	acceptor_gain	1.0000
1:2786020:CCAA:C	acceptor_gain	1.0000
1:2786020:CCAAC:C	acceptor_gain	1.0000
1:2786021:CAA:C	acceptor_gain	1.0000
1:2786021:CAAC:C	acceptor_gain	1.0000
1:2786022:AA:A	acceptor_gain	1.0000
1:2786024:C:CC	acceptor_gain	1.0000
1:2786024:CT:C	acceptor_loss	1.0000
1:2787475:CCTCA:C	donor_loss	1.0000
1:2787476:CTCA:C	donor_loss	1.0000
1:2787477:TCA:T	donor_loss	1.0000
1:2787478:CA:C	donor_loss	1.0000
1:2787479:A:AC	donor_gain	1.0000
1:2787479:ACCTG:A	donor_loss	1.0000
1:2787480:C:A	donor_loss	1.0000
1:2787480:C:CC	donor_gain	1.0000
1:2789651:AGG:A	donor_gain	1.0000
1:2644292:T:TA	donor_gain	0.9900
1:2644475:CTGC:C	acceptor_gain	0.9900
1:2644476:TGC:T	acceptor_gain	0.9900
1:2644476:TGCC:T	acceptor_loss	0.9900
1:2644477:GCCT:G	acceptor_loss	0.9900
1:2644479:C:CC	acceptor_gain	0.9900
1:2644479:C:G	acceptor_loss	0.9900

AlphaMissense

6809 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:2783706:G:T	A197D	0.972
1:2783707:C:G	A197P	0.966
1:2783742:G:T	A185D	0.962
1:2783743:C:G	A185P	0.958
1:2785842:A:G	L166P	0.940
1:2783643:C:G	R218P	0.937
1:2783696:G:C	D200E	0.936
1:2783696:G:T	D200E	0.936
1:2783697:T:A	D200V	0.935
1:2785927:A:G	C138R	0.932
1:2783745:C:G	R184P	0.928
1:2783697:T:G	D200A	0.926
1:2787680:G:T	A39D	0.926
1:2787524:G:T	A91D	0.924
1:2783697:T:C	D200G	0.923
1:2783699:G:C	F199L	0.922
1:2783699:G:T	F199L	0.922
1:2783701:A:G	F199L	0.922
1:2641658:C:G	G471R	0.921
1:2785925:G:C	C138W	0.917
1:2783694:A:G	F201S	0.916
1:2783698:C:G	D200H	0.914
1:2641657:C:T	G471D	0.912
1:2787499:G:C	F99L	0.912
1:2787499:G:T	F99L	0.912
1:2787501:A:G	F99L	0.912
1:2641456:C:T	G538D	0.910
1:2783640:G:T	A219E	0.910
1:2787621:C:G	A59P	0.910
1:2787512:A:G	L95P	0.909

dbSNP variants (sampled 300 via entrez): RS1000146122 (1:2690556 G>C), RS1000148761 (1:2688091 C>A,G,T), RS1000155431 (1:2796486 AC>A), RS1000162113 (1:2791413 C>T), RS1000189295 (1:2649292 T>A,G), RS1000206727 (1:2695096 C>A,G), RS1000220540 (1:2787232 G>A), RS1000301653 (1:2644006 C>G,T), RS1000327538 (1:2643796 A>G), RS1000331902 (1:2642005 G>T), RS1000343157 (1:2699677 T>C,G), RS1000388732 (1:2790523 T>A), RS1000406123 (1:2798074 T>A,C), RS1000513359 (1:2801943 A>G), RS1000540162 (1:2639001 C>T)

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

8 associations (top):

Study	Trait	p-value
GCST004749_57	Lung cancer in ever smokers	4.000000e-06
GCST005523_1	Celiac disease	5.000000e-12
GCST005951_35	Body mass index	4.000000e-08
GCST006197_7	Type 1 diabetes autoantibodies in high risk HLA genotype individuals (time to event)	6.000000e-06
GCST010866_12	Coronary artery disease	6.000000e-12
GCST010988_519	Adult body size	1.000000e-12
GCST012295_7	Schizophrenia, bipolar disorder or recurrent major depressive disorder x sex interaction	7.000000e-06
GCST012477_1	Invasive cervical cancer	5.000000e-08

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0000482	event free survival time
EFO:0004866	autoantibody measurement
EFO:0004952	disease recurrence
EFO:0008343	sex interaction measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aminomethylphosphonic acid (AMPA)	decreases expression	1
bisphenol A	decreases methylation	1
mono-(2-ethylhexyl)phthalate	increases methylation, increases abundance	1
benzo(e)pyrene	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
Air Pollutants	increases abundance, affects expression	1
Diethylhexyl Phthalate	increases abundance, increases methylation	1
Methapyrilene	increases methylation	1
Ozone	affects expression, increases abundance	1
Tobacco Smoke Pollution	decreases expression	1
2,4-Dichlorophenoxyacetic Acid	decreases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	increases expression	1

Clinical trials (associated diseases)

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