TECTB

Summary

TECTB (tectorin beta, HGNC:11721) is a protein-coding gene on chromosome 10q25.2, encoding Beta-tectorin (Q96PL2). One of the major non-collagenous components of the tectorial membrane.

This gene encodes a non-collagenous glycoprotein component of the tectorial membrane, which covers the auditory hair cells in the cochlea of the inner ear. A similar protein in mouse functions in low-frequency hearing.

Source: NCBI Gene 6975 — RefSeq curated summary.

At a glance

• GWAS associations: 37 (top 3% of genes corpus-wide)
• Clinical variants (ClinVar): 63 total
• GTEx eGene: eQTL in 11 tissues, sQTL in 0 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.26 (unconstrained)
• MANE Select transcript: NM_058222
• Notable: 63 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11721
Approved symbol	TECTB
Name	tectorin beta
Location	10q25.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000119913
Ensembl biotype	protein_coding
OMIM	602653
Entrez	6975

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

MANE Select: ENST00000646139

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1

ENST00000646139, ENST00000369422, ENST00000643850, ENST00000645243, ENST00001136992

RefSeq mRNA: 1 — MANE Select: NM_058222 NM_058222

CCDS: CCDS7571

Canonical transcript exons

ENST00000646139 — 11 exons

Exon	Start	End
ENSE00000811876	112284535	112284725
ENSE00000811877	112286071	112286213
ENSE00000811878	112286319	112286391
ENSE00000811879	112293738	112293841
ENSE00000811880	112293978	112294061
ENSE00000811881	112298069	112298231
ENSE00001450005	112303263	112305038
ENSE00003486047	112302101	112302133
ENSE00003512829	112299492	112299564
ENSE00003818049	112283400	112283496
ENSE00003818964	112283648	112283810

Expression profiles

Bgee: expression breadth broad, 21 present calls, max score 73.55.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0082 / max 7.3556, expressed in 2 samples.

Highest expression (Bgee): nasal cavity epithelium, biceps brachii, skeletal muscle tissue of biceps brachii, esophagus squamous epithelium, mammary duct.

Genetic regulation across tissues (GTEx eQTL / sQTL)

TECTB is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 11 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

11 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Testis	eqtl	3.0e-22	+1.28	10:112286647:T:G
Brain Cortex	eqtl	5.4e-20	+1.10	10:112231153:G:T
Brain Nucleus accumbens basal ganglia	eqtl	1.4e-17	+1.14	10:112288347:T:A
Brain Caudate basal ganglia	eqtl	1.1e-15	+1.00	10:112234477:G:C
Brain Anterior cingulate cortex BA24	eqtl	3.4e-13	+0.98	10:112234477:G:C
Brain Putamen basal ganglia	eqtl	2.2e-12	+0.83	10:112239643:G:A
Liver	eqtl	1.9e-10	+1.12	10:112234070:C:A
Brain Hippocampus	eqtl	7.4e-10	+0.74	10:112293357:T:C
Brain Frontal Cortex BA9	eqtl	8.5e-08	+0.81	10:112258339:C:T
Brain Substantia nigra	eqtl	9.2e-08	+1.05	10:112234477:G:C
Brain Amygdala	eqtl	1.5e-07	+0.98	10:112225002:A:C

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
107033	0.0082	2

Top tissues by expression

showing 100 of 217 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
nasal cavity epithelium	UBERON:0005384	73.55	gold quality
biceps brachii	UBERON:0001507	72.05	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	71.33	gold quality
esophagus squamous epithelium	UBERON:0006920	68.98	gold quality
mammary duct	UBERON:0001765	67.03	gold quality
myocardium	UBERON:0002349	65.47	gold quality
mucosa of paranasal sinus	UBERON:0005030	64.96	gold quality
vastus lateralis	UBERON:0001379	63.99	gold quality
quadriceps femoris	UBERON:0001377	63.73	gold quality
heart right ventricle	UBERON:0002080	63.11	gold quality
jejunal mucosa	UBERON:0000399	62.65	gold quality
oral cavity	UBERON:0000167	62.33	gold quality
corpus epididymis	UBERON:0004359	62.30	gold quality
cauda epididymis	UBERON:0004360	62.14	gold quality
sperm	CL:0000019	62.10	gold quality
endothelial cell	CL:0000115	61.87	gold quality
caput epididymis	UBERON:0004358	61.78	gold quality
secondary oocyte	CL:0000655	61.72	gold quality
pigmented layer of retina	UBERON:0001782	61.50	silver quality
Brodmann (1909) area 23	UBERON:0013554	61.35	gold quality
tibia	UBERON:0000979	61.34	gold quality
germinal epithelium of ovary	UBERON:0001304	60.97	gold quality
deltoid	UBERON:0001476	60.91	gold quality
superficial temporal artery	UBERON:0001614	60.54	gold quality
palpebral conjunctiva	UBERON:0001812	59.47	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	59.34	gold quality
jejunum	UBERON:0002115	58.83	gold quality
colonic mucosa	UBERON:0000317	58.70	gold quality
bronchial epithelial cell	CL:0002328	58.69	gold quality
Brodmann (1909) area 46	UBERON:0006483	58.68	gold quality
trabecular bone tissue	UBERON:0002483	58.65	gold quality
bronchus	UBERON:0002185	58.41	gold quality
epithelium of nasopharynx	UBERON:0001951	58.27	gold quality
amniotic fluid	UBERON:0000173	58.04	gold quality
mucosa of sigmoid colon	UBERON:0004993	57.18	gold quality
middle temporal gyrus	UBERON:0002771	56.88	gold quality
parietal pleura	UBERON:0002400	55.66	gold quality
cartilage tissue	UBERON:0002418	55.25	gold quality
visceral pleura	UBERON:0002401	55.24	gold quality
mammalian vulva	UBERON:0000997	55.10	gold quality
oocyte	CL:0000023	54.72	gold quality
skeletal muscle tissue	UBERON:0001134	54.41	gold quality
mammary gland	UBERON:0001911	53.59	gold quality
superior vestibular nucleus	UBERON:0007227	53.56	gold quality
thoracic mammary gland	UBERON:0005200	53.40	gold quality
layer of synovial tissue	UBERON:0007616	53.23	gold quality
saphenous vein	UBERON:0007318	53.21	gold quality
urethra	UBERON:0000057	53.10	gold quality
pericardium	UBERON:0002407	53.07	gold quality
ventral tegmental area	UBERON:0002691	53.07	gold quality
medulla oblongata	UBERON:0001896	53.00	gold quality
dorsal root ganglion	UBERON:0000044	52.93	gold quality
trigeminal ganglion	UBERON:0001675	52.89	gold quality
thymus	UBERON:0002370	52.89	gold quality
synovial joint	UBERON:0002217	52.86	gold quality
nipple	UBERON:0002030	52.79	gold quality
penis	UBERON:0000989	52.75	gold quality
pylorus	UBERON:0001166	52.70	gold quality
renal medulla	UBERON:0000362	52.68	gold quality
liver	UBERON:0002107	52.62	gold quality
superior surface of tongue	UBERON:0007371	52.52	gold quality
pons	UBERON:0000988	52.40	gold quality
dorsal plus ventral thalamus	UBERON:0001897	52.35	gold quality
tongue	UBERON:0001723	52.31	gold quality
cardia of stomach	UBERON:0001162	52.25	gold quality
subthalamic nucleus	UBERON:0001906	52.20	gold quality
trachea	UBERON:0003126	52.18	gold quality
cerebellar vermis	UBERON:0004720	52.14	gold quality
substantia nigra pars compacta	UBERON:0001965	52.04	gold quality
substantia nigra pars reticulata	UBERON:0001966	51.95	gold quality
pharyngeal mucosa	UBERON:0000355	51.88	gold quality
right lobe of liver	UBERON:0001114	51.75	gold quality
body of tongue	UBERON:0011876	51.71	gold quality
lateral globus pallidus	UBERON:0002476	51.68	gold quality
lateral nuclear group of thalamus	UBERON:0002736	51.65	gold quality
vena cava	UBERON:0004087	51.64	gold quality
muscle tissue	UBERON:0002385	51.35	gold quality
inferior vagus X ganglion	UBERON:0005363	50.95	gold quality
seminal vesicle	UBERON:0000998	50.36	gold quality
adult organism	UBERON:0007023	50.05	gold quality
buccal mucosa cell	CL:0002336	49.04	gold quality
occipital lobe	UBERON:0002021	48.95	gold quality
entorhinal cortex	UBERON:0002728	48.82	gold quality
primary visual cortex	UBERON:0002436	48.77	gold quality
placenta	UBERON:0001987	48.43	gold quality
bone marrow	UBERON:0002371	47.82	gold quality
duodenum	UBERON:0002114	47.56	gold quality
colonic epithelium	UBERON:0000397	45.12	gold quality
right lobe of thyroid gland	UBERON:0001119	45.10	gold quality
nasal cavity mucosa	UBERON:0001826	44.46	gold quality
putamen	UBERON:0001874	44.46	gold quality
globus pallidus	UBERON:0001875	44.32	gold quality
gingiva	UBERON:0001828	43.89	gold quality
temporal lobe	UBERON:0001871	43.51	gold quality
endometrium	UBERON:0001295	43.17	gold quality
midbrain	UBERON:0001891	43.12	gold quality
medial globus pallidus	UBERON:0002477	42.38	gold quality
left lobe of thyroid gland	UBERON:0001120	41.94	gold quality
substantia nigra	UBERON:0002038	41.80	gold quality
parietal lobe	UBERON:0001872	41.59	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.25

HPA expression

RNA tissue specificity: Not detected

34 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Periaqueductal gray	tissue	1.7
Spinal cord	tissue	1.5
Medulla oblongata	tissue	1.4
Pons	tissue	1.3
Midbrain	tissue	0.9
Hypothalamus	tissue	0.9
Superior colliculi	tissue	0.8
Thalamus	tissue	0.7
Substantia nigra	tissue	0.7
Putamen	tissue	0.6
Amygdala	tissue	0.6
Hippocampal formation	tissue	0.6
Cerebral cortex	tissue	0.5
Epididymis	tissue	0.5
Motor cortex	tissue	0.5
Entorhinal cortex	tissue	0.5
Ventral forebrain	tissue	0.5
Retrosplenial and cingulate cortex	tissue	0.5
Insular cortex	tissue	0.5
Prefrontal cortex	tissue	0.4
Septum	tissue	0.4
Retrosplenial cortex	tissue	0.4
Temporal cortex	tissue	0.4
Basal ganglia	tissue	0.3
Locus coeruleus	tissue	0.3
Somatosensory cortex	tissue	0.3
Occipital cortex	tissue	0.3
Thyroid gland	tissue	0.2
Liver	tissue	0.2
Corpus callosum	tissue	0.2
Olfactory bulb	tissue	0.2
Nucleus accumbens	tissue	0.1
Hippocampus	tissue	0.1
Postcentral gyrus	tissue	0.1

Brain sub-regions (HPA Brain Atlas): detected in 116; highest nTPM — Ventral spinal cord (1.5), Dorsal spinal cord (0.7), Subiculum (0.6), Dorsal hippocampus (0.4), Ventral hippocampus (0.4).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting TECTB by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 90 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-659-3P	99.85	70.69	1620

Functional genomics

gnomAD constraint: pLI 1.79e-14, LOEUF 1.26, missense Z 0.468 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000646139 — one region, missense o/e 0.99.

Literature-anchored findings (GeneRIF, showing 17)

• negative regulators of cell division; control of transition from G0/G1 to S phase; cell size (PMID:11686512)
• Akt/PKB directly phosphorylates Drosophila Tsc2 in vitro at the conserved residues, Ser 924 and Thr 1518. (PMID:12172554)
• the Tsc1-Tsc2 complex antagonizes the TOR-mediated response to amino acid availability (PMID:12172555)
• Tsc1 and Tsc2 function in the insulin/phosphoinositide 3-kinase (PI3K)/Akt pathway. (REVIEW) (PMID:12773160)
• Results suggest that TSC1/2 and Rheb have different effects on the activity of TORC1 and -2, further supporting the complexity of TOR regulation. (PMID:16627617)
• Inactivation of TSC2 and Rb synergistically induce oxidative stress via increased protein synthesis, inhibited de novo lipid synthesis, and decreased reactive oxygen species scavenger enzyme SOD2 induction (PMID:20478529)
• TSC1/2 prevents precocious GSC differentiation by inhibiting TORC1 activity and subsequently differentiation-promoting programs (PMID:20573703)
• TSC1/2 and Myc coordinate the growth and division of Drosophila intestinal stem cells. (PMID:21555458)
• study demonstrates that in the Drosophila lymph gland the tumor suppressors TSC and PTEN control blood progenitor proliferation through a common TOR- and 4EBP-dependent pathway (PMID:22951642)
• Tsc2 mutants showed a dramatic decrease in the levels of phosphorylated Akt, and interestingly, Akt mutants phenocopied Tsc2 mutants, leading to the hypothesis that Tsc2 and Akt might work via the same genetic pathway to regulate synapse growth. (PMID:23393158)
• deregulation of TORC1 induces activation of JNK, indicate that multiple cellular stresses are induced and contribute to the synthetic-lethal interactions between RB and TSC1/TSC2 inactivation. (PMID:23447678)
• hyperactivation of TORC1 following the loss of TSC1/2 is detrimental to stem cell maintenance and multiple lineage differentiation in the Drosophila intestinal stem cell lineage, a mechanism that could be conserved in other stem cell lineages (PMID:23843608)
• Data indicate that TORC1 activation by PVR involves Tsc1/Tsc2. (PMID:23878397)
• Results identified Ser1338 in Drosophila TSC2 as the site for AMPK phosphorylation. Its mutation diminished the function of TSC2 in suppressing mTORC1-dependent cell growth in Drosophila wing epithelium. (PMID:25826530)
• our data identify the eIF4F complex as an important upstream regulator of TORC1, which acts via TSC2 to inactivate TORC1 upon withdrawal of amino acids (PMID:26988032)
• CEACAM16 can probably form higher order structures with other tectorial membrane proteins such as alpha-tectorin and beta-tectorin and influences the physical properties of the tectorial membrane (PMID:22544735)
• Single nucleotide polymorphism in the ultraconserved elements of TECTB gene is associated with recurrence in colorectal adenocarcinoma. (PMID:22673945)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	tectb	ENSDARG00000045268
mus_musculus	Tectb	ENSMUSG00000024979
rattus_norvegicus	Tectb	ENSRNOG00000015671

Paralogs (5): OIT3 (ENSG00000138315), UMOD (ENSG00000169344), GP2 (ENSG00000169347), ZPLD1 (ENSG00000170044), UMODL1 (ENSG00000177398)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:109574) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 9 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal tectorial membrane morphology	1
decreased cochlear nerve compound action potential	1
enlarged tectorial membrane	1
abnormal distortion product otoacoustic emission	1
impaired hearing	1
enhanced cochlear frequency tuning	1
absent Hensen stripe	1
abnormal tectorial membrane marginal band morphology	1
abnormal tectorial membrane striated-sheet matrix morphology	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Gallus gallus	P54097	74.2%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
MIR6715A	ncRNA	102466189
ACSL5	protein-coding	51703
GPAM	protein-coding	57678
ZDHHC6	protein-coding	64429
MIR6715B	ncRNA	102465427
MIR4295	ncRNA	100422909
VTI1A	protein-coding	143187

Protein

Protein identifiers

Beta-tectorin — Q96PL2 (reviewed: Q96PL2)

All UniProt accessions (3): A0A2R8Y6R9, A0A2R8YGB5, Q96PL2

UniProt curated annotations — full annotation on UniProt →

Function. One of the major non-collagenous components of the tectorial membrane. The tectorial membrane is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea and contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals.

Subunit / interactions. May form homomeric filament after self-association or heteromeric filament after association with alpha-tectorin. Interacts with CEACAM16.

Subcellular location. Cell membrane. Secreted. Extracellular space. Extracellular matrix.

Post-translational modifications. The presence of a hydrophobic C-terminus preceded by a potential cleavage site strongly suggests that tectorins are synthesized as glycosylphosphatidylinositol-linked, membrane-bound precursors. Tectorins are targeted to the apical surface of the inner ear epithelia by the lipid and proteolytically released into the extracellular compartment.

Domain organisation. Zona pellucida domain may enable to form filaments.

RefSeq proteins (1): NP_478129* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001507	ZP_dom	Domain
IPR017977	ZP_dom_CS	Conserved_site
IPR042235	ZP-C_dom	Homologous_superfamily
IPR048290	ZP_chr	Domain
IPR055355	ZP-C	Domain

Pfam: PF00100

UniProt features (10 total): glycosylation site 4, signal peptide 1, chain 1, propeptide 1, domain 1, lipid moiety-binding region 1, disulfide bond 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96PL2-F1	68.33	0.17

Human Protein Atlas

Protein class: Predicted membrane proteins, Predicted secreted proteins, UniProt - Evidence at transcript level

Protein evidence: Evidence at transcript level

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 (1)

Type	Positions
Gpi-anchor amidated glycine	305

Disulfide bonds (1)

Type	Positions
Disulfide bond	204–264

Glycosylation sites (4)

Type	Positions
N-linked (glcnac…) asparagine	80, 104, 116, 145

Function

Pathways and Gene Ontology

Reactome pathways

1 curated (TAS) of 3; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

3 pathways:

ID	Pathway	Evidence
R-HSA-163125	Post-translational modification: synthesis of GPI-anchored proteins	curated
R-HSA-392499	Metabolism of proteins	—
R-HSA-597592	Post-translational protein modification	—

MSigDB gene sets: 60 (showing top): GOCC_CELL_SURFACE, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, MCCLUNG_COCAIN_REWARD_4WK, chr10q25, GOCC_SIDE_OF_MEMBRANE, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, REACTOME_POST_TRANSLATIONAL_MODIFICATION_SYNTHESIS_OF_GPI_ANCHORED_PROTEINS, MYC_UP.V1_UP, CAHOY_ASTROCYTIC, GOCC_EXTERNAL_ENCAPSULATING_STRUCTURE, NABA_ECM_GLYCOPROTEINS, MIR607, MIR182_5P, MIR3910

GO Molecular Function (1): extracellular matrix structural constituent (GO:0005201)

GO Cellular Component (6): extracellular region (GO:0005576), plasma membrane (GO:0005886), cell surface (GO:0009986), extracellular matrix (GO:0031012), side of membrane (GO:0098552), cell periphery (GO:0071944)

Reactome top-level categories

2 top-level categories:

Category	Pathways
Post-translational protein modification	1
Metabolism of proteins	1

GO top-level categories

7 GO namespaces:

Category	Terms
cellular anatomical structure	4
membrane	2
structural molecule activity	1
extracellular matrix	1
cell periphery	1
external encapsulating structure	1
leaflet of membrane bilayer	1

Protein interactions and networks

STRING

showing 15 of 628 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TECTB	OTOG	Q6ZRI0	957
TECTB	OTOA	Q7RTW8	924
TECTB	ZAN	Q9Y493	916
TECTB	COCH	O43405	880
TECTB	CEACAM16	Q2WEN9	719
TECTB	NID1	P14543	703
TECTB	CALB1	P05937	675
TECTB	OTOGL	Q3ZCN5	659
TECTB	KCNQ4	P56696	605
TECTB	OC90	Q02509	581
TECTB	OTOL1	A6NHN0	578
TECTB	BRICD5	Q6PL45	572
TECTB	MUC2	Q02817	542
TECTB	STRC	Q7RTU9	531
TECTB	CHRNA10	Q9GZZ6	527

IntAct

Human interaction partners of TECTB in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

2 partners by confidence:

Partner	Interaction type	MIscore	Records
MAT1A	physical association	0.400	1
NDUFA2	association	0.350	1

BioGRID (36 interactions; top human partners by supporting records): ACIN1 (Affinity Capture-MS), AGPAT5 (Affinity Capture-MS), ARL6IP5 (Affinity Capture-MS), CKAP4 (Affinity Capture-MS), DAD1 (Affinity Capture-MS), DDX27 (Affinity Capture-MS), DNTTIP2 (Affinity Capture-MS), H2AFY (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), HIST2H2AB (Affinity Capture-MS), HIST2H3PS2 (Affinity Capture-MS), IDH2 (Affinity Capture-MS), MAK16 (Affinity Capture-MS), MAT1A (Affinity Capture-MS), MTCH2 (Affinity Capture-MS)

Disease & clinical

Genetic variants

Variant evidence for TECTB: 63 ClinVar records (0 pathogenic / likely pathogenic); 37 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	52
Likely benign	8
Benign	1

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 31 predictions of 766):

Position(s)	Effect	Δscore	Sites
10:112284417	donor_gain	1.0000
10:112286069–112286070	acceptor_loss	1.0000	5
10:112286317–112286318	acceptor_loss	1.0000	6
10:112286392–112286393	donor_loss	1.0000	4
10:112293735	acceptor_gain	1.0000
10:112283811–112283812	donor_loss	0.9900	4
10:112284533–112284534	acceptor_loss	0.9900	6
10:112286070	acceptor_loss	0.9900
10:112286214	donor_loss	0.9900	2
10:112286392	donor_loss	0.9900

AlphaMissense

904 missense substitutions predicted likely pathogenic (of 2,168 scored), across 215 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
F249	8	0.994	1.000
H263	8	0.989	0.999
F251	8	0.986	1.000
F244	8	0.980	1.000
D270	8	0.979	0.996
F151	8	0.977	1.000
F71	8	0.971	1.000
F246	8	0.962	0.998
F119	8	0.955	0.999
F197	8	0.950	0.999
F134	8	0.944	0.998
F97	8	0.938	0.999
D228	8	0.919	0.983
N236	8	0.909	0.997
D26	8	0.879	0.969
D75	8	0.878	0.957
F159	8	0.830	0.987
C32	7	1.000	1.000
C121	7	1.000	1.000
C84	7	0.999	1.000

HPA cancer prognostics

RNA cancer specificity: Not detected

Disease associations

OMIM: gene MIM:602653 | disease phenotypes:

GWAS associations

showing 30 of 37 associations:

Study	Trait	p-value
GCST90011900_123	Serum alkaline phosphatase levels	6e-35
GCST008084_165	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	2e-32
GCST90011898_15	Alanine aminotransferase levels	1e-30
GCST008075_170	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	3e-27
GCST008085_183	HDL cholesterol levels in current drinkers	2e-19
GCST008084_63	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	2e-18
GCST008070_69	HDL cholesterol levels	1e-16
GCST011348_53	High density lipoprotein cholesterol levels	1e-16
GCST008075_94	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	2e-15
GCST008079_132	LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	7e-14
GCST010173_66	Triglyceride levels	1e-13
GCST008078_88	LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	7e-13
GCST006005_11	High density lipoprotein cholesterol levels	8e-13
GCST011353_30	Serum alkaline phosphatase levels	9e-13
GCST011352_33	Alanine aminotransferase levels	2e-12
GCST008074_147	Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	9e-12
GCST008083_119	Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	1e-11
GCST008085_7	HDL cholesterol levels in current drinkers	5e-11
GCST006016_43	Serum alkaline phosphatase levels	2e-10
GCST006034_44	Total cholesterol levels	6e-10
GCST008079_96	LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	7e-10
GCST90011899_168	Aspartate aminotransferase levels	1e-9
GCST005998_18	Alanine transaminase levels	2e-9
GCST008086_100	LDL cholesterol levels in current drinkers	2e-9
GCST008078_18	LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	2e-8
GCST008084_121	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	5e-8
GCST008083_84	Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	6e-8
GCST008070_27	HDL cholesterol levels	1e-7
GCST008075_21	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	1e-7
GCST008074_52	Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	2e-7

EFO canonical traits (from GWAS)

8 canonical traits:

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004533	alkaline phosphatase measurement
EFO:0004574	total cholesterol measurement
EFO:0004530	triglyceride measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004329	alcohol drinking
EFO:0010397	sphingomyelin 24:0 measurement
EFO:0004736	aspartate aminotransferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation	2
Resveratrol	affects cotreatment, decreases expression	1
Copper	decreases expression, affects cotreatment	1
Rotenone	increases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.