TEKT2

Summary

TEKT2 (tektin 2, HGNC:11725) is a protein-coding gene on chromosome 1p34.3, encoding Tektin-2 (Q9UIF3). Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia and flagellar axoneme.

This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. This gene is expressed in the testis and its protein is localized to the flagella of the sperms, indicating that it may play a role in spermatogenesis.

Source: NCBI Gene 27285 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 99 total
• MANE Select transcript: NM_014466

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11725
Approved symbol	TEKT2
Name	tektin 2
Location	1p34.3
Locus type	gene with protein product
Status	Approved
Aliases	TEKTB1
Ensembl gene	ENSG00000092850
Ensembl biotype	protein_coding
OMIM	608953
Entrez	27285

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 10 protein_coding, 1 nonsense_mediated_decay

ENST00000207457, ENST00000469024, ENST00000473120, ENST00000902743, ENST00000902744, ENST00000902745, ENST00000902746, ENST00000902747, ENST00000922202, ENST00000922203, ENST00000922204

RefSeq mRNA: 1 — MANE Select: NM_014466 NM_014466

CCDS: CCDS401

Canonical transcript exons

ENST00000207457 — 10 exons

Exon	Start	End
ENSE00000766209	36085836	36086041
ENSE00001340732	36084094	36084149
ENSE00001435897	36085163	36085288
ENSE00002146749	36084870	36085077
ENSE00003466520	36087728	36087807
ENSE00003515484	36087973	36088275
ENSE00003602835	36087439	36087582
ENSE00003648326	36087204	36087311
ENSE00003655372	36086704	36086847
ENSE00003674882	36086931	36087045

Expression profiles

Bgee: expression breadth ubiquitous, 124 present calls, max score 99.21.

FANTOM5 (CAGE): breadth broad, TPM avg 0.4828 / max 47.8150, expressed in 203 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
2144	0.3935	172
2145	0.0615	26
2146	0.0278	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	99.21	gold quality
left testis	UBERON:0004533	94.06	gold quality
right testis	UBERON:0004534	93.61	gold quality
testis	UBERON:0000473	93.21	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.51	gold quality
fallopian tube	UBERON:0003889	87.11	gold quality
cortical plate	UBERON:0005343	82.03	gold quality
ventricular zone	UBERON:0003053	81.69	gold quality
right lung	UBERON:0002167	77.26	gold quality
ganglionic eminence	UBERON:0004023	76.98	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.82	gold quality
left uterine tube	UBERON:0001303	76.27	gold quality
pituitary gland	UBERON:0000007	74.69	gold quality
adenohypophysis	UBERON:0002196	73.87	gold quality
hypothalamus	UBERON:0001898	71.80	gold quality
metanephros cortex	UBERON:0010533	70.58	gold quality
nucleus accumbens	UBERON:0001882	69.44	gold quality
thyroid gland	UBERON:0002046	69.43	gold quality
caudate nucleus	UBERON:0001873	69.35	gold quality
left lobe of thyroid gland	UBERON:0001120	68.98	gold quality
right lobe of thyroid gland	UBERON:0001119	68.79	gold quality
body of pancreas	UBERON:0001150	68.22	gold quality
temporal lobe	UBERON:0001871	67.89	gold quality
amygdala	UBERON:0001876	67.85	gold quality
Ammon’s horn	UBERON:0001954	67.63	gold quality
pancreas	UBERON:0001264	67.59	gold quality
islet of Langerhans	UBERON:0000006	67.47	gold quality
endocervix	UBERON:0000458	66.24	gold quality
lung	UBERON:0002048	65.97	gold quality
cortex of kidney	UBERON:0001225	64.59	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-10287	yes	25.84
E-ANND-3	yes	7.67

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXJ1

Literature-anchored findings (GeneRIF, showing 4)

• This is the first description of human pathology linked to a tektin-family gene, since only murine models are available for these genes. (PMID:18227105)
• Levels of Tektin 2 and CatSper 2 proteins are positively associated with sperm motility parameters. Measurements of Tektin 2 levels can be correlated with the clinical outcome of ICSI. (PMID:23519396)
• These results suggested that tektin-t variants (Arg/Cys + Cys/Cys) were probably one of the high risk genetic factors for idiopathic asthenozoospermia among males in Sichuan, China, while the R207H polymorphism may be associated with idiopathic asthenozoospermia risk. (PMID:26584823)
• Integrative transcriptome analysis reveals TEKT2 and PIAS2 involvement in diabetic nephropathy. (PMID:36251411)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	tekt2	ENSDARG00000028973
mus_musculus	Tekt2	ENSMUSG00000028845
rattus_norvegicus	Tekt2	ENSRNOG00000011033
drosophila_melanogaster	CG3085	FBGN0034816

Paralogs (5): TEKT3 (ENSG00000125409), TEKT5 (ENSG00000153060), TEKT4 (ENSG00000163060), TEKT1 (ENSG00000167858), (ENSG00000274847)

Protein

Protein identifiers

Tektin-2 — Q9UIF3 (reviewed: Q9UIF3)

Alternative names: Tektin-t, Testicular tektin, Testicular tektin B1-like protein

All UniProt accessions (3): Q9UIF3, E9PRS9, H0YD25

UniProt curated annotations — full annotation on UniProt →

Function. Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia and flagellar axoneme. Plays a key role in the assembly or attachment of the inner dynein arm to microtubules in sperm flagella and tracheal cilia. Forms filamentous polymers in the walls of ciliary and flagellar microtubules.

Subunit / interactions. Microtubule inner protein component of sperm flagellar doublet microtubules. May interact with CCDC172.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme. Flagellum axoneme. Microtubule organizing center.

Tissue specificity. Expressed at high levels in testis, trachea and fetal lung, and at lower levels in ovary, pituitary, adult lung, fetal brain and fetal kidney.

Post-translational modifications. Tyrosine phosphorylated. Ubiquitinated, leading to its degradation. Deubiquitinated by USP16, promoting its stability.

Similarity. Belongs to the tektin family.

RefSeq proteins (1): NP_055281* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000435	Tektins	Family
IPR048256	Tektin-like	Family

Pfam: PF03148

UniProt features (6 total): coiled-coil region 2, sequence variant 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
7UNG	ELECTRON MICROSCOPY	3.6
8J07	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UIF3-F1	91.47	0.86

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 94 (showing top): GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_INNER_DYNEIN_ARM_ASSEMBLY, GOBP_AXONEMAL_DYNEIN_COMPLEX_ASSEMBLY, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, chr1p34, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ORGANELLE_ASSEMBLY, GOBP_MICROTUBULE_BUNDLE_FORMATION, MORF_EPHA7, MORF_RAB3A, GOBP_CELL_PROJECTION_ORGANIZATION, MORF_WNT1, GOBP_AXONEME_ASSEMBLY

GO Biological Process (5): flagellated sperm motility (GO:0030317), inner dynein arm assembly (GO:0036159), cilium assembly (GO:0060271), cilium movement involved in cell motility (GO:0060294), cell projection organization (GO:0030030)

GO Molecular Function (0):

GO Cellular Component (12): nucleus (GO:0005634), microtubule organizing center (GO:0005815), axonemal microtubule (GO:0005879), microtubule cytoskeleton (GO:0015630), sperm flagellum (GO:0036126), axonemal A tubule inner sheath (GO:0160111), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), microtubule (GO:0005874), cilium (GO:0005929), motile cilium (GO:0031514), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cilium-dependent cell motility	2
microtubule cytoskeleton	2
cilium movement involved in cell motility	1
sperm motility	1
axonemal dynein complex assembly	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
cilium movement	1
cell motility	1
cellular component organization	1
intracellular membrane-bounded organelle	1
cytoplasmic microtubule	1
axoneme	1
cytoskeleton	1
9+2 motile cilium	1
A axonemal microtubule	1
axonemal microtubule doublet inner sheath	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
polymeric cytoskeletal fiber	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cilium	1

Protein interactions and networks

STRING

1262 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TEKT2	OAZ3	Q9UMX2	524
TEKT2	CCDC40	Q4G0X9	500
TEKT2	SPAG6	O75602	495
TEKT2	EFHC2	Q5JST6	490
TEKT2	DRC1	Q96MC2	483
TEKT2	CATSPER2	Q96P56	478
TEKT2	MEIG1	Q5JSS6	471
TEKT2	PSMB2	P31145	453
TEKT2	AKAP4	Q5JQC9	447
TEKT2	DNAI1	Q9UI46	434
TEKT2	CCT7	Q99832	429
TEKT2	EFHC1	Q5JVL4	422
TEKT2	MIGA2	Q7L4E1	422
TEKT2	NME5	P56597	420
TEKT2	SEPTIN4	O43236	418

IntAct

10 interactions, top by confidence:

A	B	Type	Score
TEKT2	CEP170	psi-mi:“MI:0914”(association)	0.730
TEKT2	GFAP	psi-mi:“MI:0914”(association)	0.350
TEKT2	METAP2	psi-mi:“MI:0914”(association)	0.350
TEKT2	MYH1	psi-mi:“MI:0914”(association)	0.350
TEKT2	CEP170	psi-mi:“MI:0915”(physical association)	0.000
TEKT2	CENPH	psi-mi:“MI:0915”(physical association)	0.000
MRPL39	TEKT2	psi-mi:“MI:0915”(physical association)	0.000
TRAF3IP1	TEKT2	psi-mi:“MI:0915”(physical association)	0.000
EXOC1	TEKT2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (45): FARSB (Affinity Capture-MS), ACOT11 (Affinity Capture-MS), PTER (Affinity Capture-MS), CEP170 (Affinity Capture-MS), CENPH (Affinity Capture-MS), CCDC102A (Affinity Capture-MS), MMAB (Affinity Capture-MS), METAP2 (Affinity Capture-MS), ADSL (Affinity Capture-MS), POLDIP3 (Affinity Capture-MS), PLCG1 (Affinity Capture-MS), HELLS (Affinity Capture-MS), PM20D2 (Affinity Capture-MS), KLHL42 (Affinity Capture-MS), GNB1L (Affinity Capture-MS)

ESM2 similar proteins: A1A5Q4, A4IH82, A6H782, A7S8T5, F7F3Q2, G5E8A8, O35594, O46469, Q0E908, Q149S1, Q26648, Q29RL1, Q2T9Q6, Q2TA16, Q2TA38, Q2YDI7, Q32KZ9, Q3SYS9, Q4R353, Q4R5V1, Q4R7G7, Q4V8G8, Q5PPV2, Q5RHQ8, Q5U584, Q5XIJ8, Q6AXV2, Q6AYM2, Q6DFJ6, Q6DGZ3, Q6PE87, Q6X6Z7, Q8CI04, Q8IXS2, Q8IYR0, Q8VHI7, Q8WW24, Q8WYA0, Q922G7, Q95JU3

Diamond homologs: A6H782, F7F3Q2, G5E8A8, P86230, Q149S1, Q1W6C3, Q26648, Q2T9Q6, Q2TA38, Q2YDI7, Q32KZ9, Q4R353, Q4R5V1, Q4V8G8, Q5PPV2, Q6AXV2, Q6AYM2, Q6X6Z7, Q8WW24, Q8WZ33, Q922G7, Q969V4, Q96M29, Q99JD2, Q9BXF9, Q9DAJ2, Q9TTW3, Q9UIF3

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
FOXJ1	“up-regulates quantity by expression”	TEKT2	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	79
Likely benign	5
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

1537 predictions. Top by Δscore:

Variant	Effect	Δscore
1:36084922:AT:A	acceptor_gain	1.0000
1:36084923:T:G	acceptor_gain	1.0000
1:36084923:T:TA	acceptor_gain	1.0000
1:36084924:G:A	acceptor_gain	1.0000
1:36085042:G:GT	donor_gain	1.0000
1:36085159:TCA:T	acceptor_loss	1.0000
1:36085161:A:AG	acceptor_gain	1.0000
1:36085162:G:A	acceptor_loss	1.0000
1:36085162:G:GA	acceptor_gain	1.0000
1:36085162:GA:G	acceptor_gain	1.0000
1:36085162:GAC:G	acceptor_gain	1.0000
1:36085162:GACC:G	acceptor_gain	1.0000
1:36085162:GACCA:G	acceptor_gain	1.0000
1:36085301:GAC:G	donor_gain	1.0000
1:36085350:C:G	donor_gain	1.0000
1:36086702:A:AG	acceptor_gain	1.0000
1:36086703:G:GT	acceptor_gain	1.0000
1:36086703:GC:G	acceptor_gain	1.0000
1:36086703:GCC:G	acceptor_gain	1.0000
1:36086703:GCCT:G	acceptor_gain	1.0000
1:36086703:GCCTC:G	acceptor_gain	1.0000
1:36086843:GATGG:G	donor_gain	1.0000
1:36086845:TGGGT:T	donor_loss	1.0000
1:36086846:GG:G	donor_gain	1.0000
1:36086847:GG:G	donor_gain	1.0000
1:36086847:GGTA:G	donor_loss	1.0000
1:36086848:G:GG	donor_gain	1.0000
1:36086848:GTAAG:G	donor_loss	1.0000
1:36086929:A:AG	acceptor_gain	1.0000
1:36086930:G:GG	acceptor_gain	1.0000

AlphaMissense

2818 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:36086752:A:C	K179N	0.954
1:36086752:A:T	K179N	0.954
1:36086962:A:C	S222R	0.952
1:36086964:T:A	S222R	0.952
1:36086964:T:G	S222R	0.952
1:36087741:T:C	L338P	0.948
1:36087243:T:C	F263L	0.947
1:36087245:T:A	F263L	0.947
1:36087245:T:G	F263L	0.947
1:36086730:T:C	L172P	0.946
1:36086950:T:A	W218R	0.943
1:36086950:T:C	W218R	0.943
1:36087533:G:C	R317P	0.942
1:36087536:T:C	L318P	0.937
1:36085058:G:C	R46P	0.936
1:36086028:T:C	F159L	0.935
1:36086030:C:A	F159L	0.935
1:36086030:C:G	F159L	0.935
1:36086983:G:C	A229P	0.935
1:36087546:A:C	R321S	0.935
1:36087546:A:T	R321S	0.935
1:36088033:G:C	K380N	0.935
1:36088033:G:T	K380N	0.935
1:36085016:G:C	R32P	0.933
1:36085037:G:C	R39P	0.931
1:36085912:G:C	R120P	0.931
1:36087292:T:C	L279P	0.930
1:36085921:G:C	R123P	0.928
1:36087578:A:C	D332A	0.928
1:36085841:G:C	K96N	0.927

dbSNP variants (sampled 300 via entrez): RS1000996105 (1:36083629 T>G), RS1001092611 (1:36084048 C>T), RS1001320526 (1:36083356 G>A), RS1001783980 (1:36083963 GC>G), RS1003238165 (1:36087126 C>T), RS1003715913 (1:36082493 C>G,T), RS1004097100 (1:36084236 G>A), RS1004576499 (1:36084463 G>A,C), RS1004650114 (1:36087108 C>T), RS1004953826 (1:36088545 G>A), RS1005174126 (1:36083283 T>G), RS1005511844 (1:36082849 C>T), RS1005825689 (1:36085846 C>A), RS1006210397 (1:36085665 G>A), RS1006473850 (1:36086284 G>A)

Disease associations

OMIM: gene MIM:608953 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
mercuric bromide	decreases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Valproic Acid	decreases expression, increases methylation	2
p-Chloromercuribenzoic Acid	decreases expression, affects cotreatment	2
aristolochic acid I	increases expression	1
methylmercuric chloride	decreases expression	1
trichostatin A	decreases expression	1
arsenite	increases methylation	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
licochalcone B	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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