TXLNB

Summary

TXLNB (taxilin beta, HGNC:21617) is a protein-coding gene on chromosome 6q24.1, encoding Beta-taxilin (Q8N3L3). Promotes motor nerve regeneration.

Predicted to enable syntaxin binding activity. Located in cytoplasm.

Source: NCBI Gene 167838 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 75 total
• MANE Select transcript: NM_153235

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21617
Approved symbol	TXLNB
Name	taxilin beta
Location	6q24.1
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp451A175, MDP77, dJ522B19.2
Ensembl gene	ENSG00000164440
Ensembl biotype	protein_coding
OMIM	611438
Entrez	167838

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding_CDS_not_defined, 2 protein_coding, 1 nonsense_mediated_decay

ENST00000358430, ENST00000367652, ENST00000715942, ENST00000715943, ENST00000715944, ENST00000715945

RefSeq mRNA: 1 — MANE Select: NM_153235 NM_153235

CCDS: CCDS34545

Canonical transcript exons

ENST00000358430 — 10 exons

Exon	Start	End
ENSE00001421552	139240061	139243314
ENSE00001422744	139291921	139291998
ENSE00001431226	139288476	139288913
ENSE00004028407	139276830	139276921
ENSE00004028408	139247817	139247909
ENSE00004028409	139262579	139262773
ENSE00004028413	139260318	139260437
ENSE00004028415	139244595	139244690
ENSE00004028417	139255564	139255638
ENSE00004028420	139270456	139270626

Expression profiles

Bgee: expression breadth ubiquitous, 187 present calls, max score 98.94.

FANTOM5 (CAGE): breadth broad, TPM avg 4.4094 / max 620.9152, expressed in 596 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
75948	3.7844	518
75947	0.2933	64
75949	0.2091	62
75950	0.0609	33
75946	0.0550	20
75943	0.0068	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
vastus lateralis	UBERON:0001379	98.94	gold quality
quadriceps femoris	UBERON:0001377	98.80	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	98.80	gold quality
skeletal muscle tissue	UBERON:0001134	98.19	gold quality
hindlimb stylopod muscle	UBERON:0004252	98.15	gold quality
biceps brachii	UBERON:0001507	98.14	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	97.97	gold quality
deltoid	UBERON:0001476	96.53	gold quality
gastrocnemius	UBERON:0001388	96.33	gold quality
muscle of leg	UBERON:0001383	95.93	gold quality
muscle tissue	UBERON:0002385	95.50	gold quality
left ventricle myocardium	UBERON:0006566	94.88	gold quality
cardiac muscle of right atrium	UBERON:0003379	94.40	gold quality
body of tongue	UBERON:0011876	94.34	gold quality
tibialis anterior	UBERON:0001385	93.60	gold quality
myocardium	UBERON:0002349	93.53	gold quality
heart right ventricle	UBERON:0002080	91.78	gold quality
heart left ventricle	UBERON:0002084	91.13	gold quality
cardiac ventricle	UBERON:0002082	91.07	gold quality
cardiac atrium	UBERON:0002081	90.10	gold quality
apex of heart	UBERON:0002098	90.06	gold quality
right atrium auricular region	UBERON:0006631	89.87	gold quality
heart	UBERON:0000948	87.20	gold quality
tongue	UBERON:0001723	84.78	gold quality
bronchial epithelial cell	CL:0002328	78.77	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	78.66	silver quality
mucosa of paranasal sinus	UBERON:0005030	77.41	gold quality
bronchus	UBERON:0002185	77.05	gold quality
calcaneal tendon	UBERON:0003701	74.85	gold quality
left ovary	UBERON:0002119	74.80	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.29

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

141 targeting TXLNB, 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-3924	100.00	72.09	2394
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-454-3P	99.91	74.01	1925

Literature-anchored findings (GeneRIF, showing 1)

• identification of isoforms of taxilin; interaction with syntaxin; tissue distribution [beta-taxilin, gamma-taxilin]. (PMID:15184072)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	txlnba	ENSDARG00000020594
danio_rerio	txlnbb	ENSDARG00000076241
mus_musculus	Txlnb	ENSMUSG00000039891
rattus_norvegicus	Txlnb	ENSRNOG00000060021
drosophila_melanogaster	CG5886	FBGN0039379
caenorhabditis_elegans	T22C1.6	WBGENE00011917

Paralogs (2): TXLNA (ENSG00000084652), TXLNG (ENSG00000086712)

Protein

Protein identifiers

Beta-taxilin — Q8N3L3 (reviewed: Q8N3L3)

Alternative names: Muscle-derived protein 77

All UniProt accessions (2): Q8N3L3, H7BY59

UniProt curated annotations — full annotation on UniProt →

Function. Promotes motor nerve regeneration. May be involved in intracellular vesicle traffic.

Subunit / interactions. Binds to the C-terminal coiled coil region of syntaxin family members STX1A, STX3A and STX4A. Has a preference for STX1A.

Tissue specificity. Expressed in skeletal muscle.

Similarity. Belongs to the taxilin family.

RefSeq proteins (1): NP_694967* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026183	Taxilin_fam	Family

Pfam: PF09728

UniProt features (21 total): compositionally biased region 6, region of interest 4, sequence variant 4, modified residue 2, sequence conflict 2, coiled-coil region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N3L3-F1	68.83	0.37

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 (2): 474, 483

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 101 (showing top): GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, TATTATA_MIR374, GOMF_SYNTAXIN_BINDING, GOMF_SNARE_BINDING, DODD_NASOPHARYNGEAL_CARCINOMA_DN, MIKKELSEN_ES_ICP_WITH_H3K4ME3, MIKKELSEN_NPC_ICP_WITH_H3K4ME3, F10_TARGET_GENES, TERF1_TARGET_GENES, ZIM3_TARGET_GENES, ZNF169_TARGET_GENES, ZNF2_TARGET_GENES, ZNF843_TARGET_GENES, MIR153_5P, MIR7_1_3P

GO Biological Process (0):

GO Molecular Function (2): syntaxin binding (GO:0019905), protein binding (GO:0005515)

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
SNARE binding	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

708 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TXLNB	STX8	Q9UNK0	763
TXLNB	STX7	O15400	719
TXLNB	STX3	Q13277	718
TXLNB	STX4	Q12846	707
TXLNB	STX1A	Q16623	647
TXLNB	TMEM236	Q5W0B7	627
TXLNB	CCDC158	Q5M9N0	516
TXLNB	CIMAP3	Q8TCI5	473
TXLNB	RNF122	Q9H9V4	470
TXLNB	SYBU	Q9NX95	462
TXLNB	IGSF5	Q9NSI5	458
TXLNB	ZFYVE26	Q68DK2	447
TXLNB	CDHR3	Q6ZTQ4	442
TXLNB	PRPF6	O94906	438
TXLNB	SHISA6	Q6ZSJ9	434

IntAct

292 interactions, top by confidence:

A	B	Type	Score
TXLNB	TXLNA	psi-mi:“MI:0915”(physical association)	0.880
TXLNA	TXLNB	psi-mi:“MI:0915”(physical association)	0.880
TXLNB	KRT38	psi-mi:“MI:0915”(physical association)	0.830
LURAP1	TXLNB	psi-mi:“MI:0915”(physical association)	0.830
TXLNB	LURAP1	psi-mi:“MI:0915”(physical association)	0.830
KRT38	TXLNB	psi-mi:“MI:0915”(physical association)	0.830
CEP70	TXLNB	psi-mi:“MI:0915”(physical association)	0.780
TXLNB	DEUP1	psi-mi:“MI:0915”(physical association)	0.720
DEUP1	TXLNB	psi-mi:“MI:0915”(physical association)	0.720
TXLNB	CCDC196	psi-mi:“MI:0915”(physical association)	0.720
VIM	TXLNB	psi-mi:“MI:0915”(physical association)	0.720
KRT15	TXLNB	psi-mi:“MI:0915”(physical association)	0.720
TXLNB	NMI	psi-mi:“MI:0915”(physical association)	0.720
TXLNB	USHBP1	psi-mi:“MI:0915”(physical association)	0.720
NMI	TXLNB	psi-mi:“MI:0915”(physical association)	0.720
DYDC1	TXLNB	psi-mi:“MI:0915”(physical association)	0.720

BioGRID (132): TXLNB (Two-hybrid), TXLNB (Two-hybrid), TXLNB (Two-hybrid), TXLNB (Two-hybrid), TXLNB (Two-hybrid), TXLNB (Two-hybrid), TXLNB (Two-hybrid), TXLNB (Two-hybrid), TXLNB (Two-hybrid), TXLNB (Two-hybrid), TXLNB (Two-hybrid), TXLNB (Two-hybrid), TXLNB (Two-hybrid), TXLNB (Two-hybrid), TXLNB (Two-hybrid)

ESM2 similar proteins: A1L260, A2AMM0, A2VDA9, A5PJI6, B1PRL5, O35867, O54724, O75410, O94876, O95810, P85125, Q13625, Q2T9X8, Q3U1C4, Q53HC0, Q5BKX8, Q5RBY6, Q5RDH2, Q5RKG1, Q5T1M5, Q63918, Q66H98, Q69ZZ6, Q6AYB8, Q6INU2, Q6IRU7, Q6NRH3, Q6NTW1, Q6NZI2, Q6P9Q6, Q6ZPJ0, Q7TNY7, Q7ZWE6, Q80U16, Q80Z25, Q86YF9, Q8BHS8, Q8BMD2, Q8C804, Q8CG79

Diamond homologs: P40222, Q6GVM5, Q6PAM1, Q8BHN1, Q8N3L3, Q8VBT1, Q9BZA5, Q9I969, Q9NUQ3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 71 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Formation of the cornified envelope	11	24.2×	9e-11
Loss of Nlp from mitotic centrosomes	5	19.8×	2e-04
Loss of proteins required for interphase microtubule organization from the centrosome	5	19.8×	2e-04
AURKA Activation by TPX2	5	19.0×	2e-04
Recruitment of mitotic centrosome proteins and complexes	5	17.0×	3e-04
Regulation of PLK1 Activity at G2/M Transition	5	15.9×	4e-04
Keratinization	11	15.3×	7e-09
Recruitment of NuMA to mitotic centrosomes	5	14.6×	5e-04

GO biological processes:

GO term	Partners	Fold	FDR
morphogenesis of an epithelium	10	59.3×	1e-13
intermediate filament organization	13	54.0×	3e-17
epithelial cell differentiation	9	27.2×	5e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	65
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1653 predictions. Top by Δscore:

Variant	Effect	Δscore
6:139244588:T:TA	donor_gain	1.0000
6:139244590:CTCA:C	donor_loss	1.0000
6:139244591:TCA:T	donor_loss	1.0000
6:139244592:CAC:C	donor_loss	1.0000
6:139244594:CCT:C	donor_gain	1.0000
6:139244686:GTTGT:G	acceptor_gain	1.0000
6:139244687:TTGT:T	acceptor_gain	1.0000
6:139244688:TGT:T	acceptor_gain	1.0000
6:139244688:TGTC:T	acceptor_loss	1.0000
6:139244690:TC:T	acceptor_loss	1.0000
6:139244691:C:CC	acceptor_gain	1.0000
6:139244691:CTACA:C	acceptor_loss	1.0000
6:139244692:T:G	acceptor_loss	1.0000
6:139247809:ATACT:A	donor_loss	1.0000
6:139247811:ACT:A	donor_loss	1.0000
6:139247812:CTC:C	donor_loss	1.0000
6:139247812:CTCA:C	donor_gain	1.0000
6:139247813:TCAC:T	donor_loss	1.0000
6:139247814:CACTT:C	donor_loss	1.0000
6:139247815:A:AC	donor_gain	1.0000
6:139247815:ACTTT:A	donor_loss	1.0000
6:139247816:C:CG	donor_gain	1.0000
6:139247816:CT:C	donor_gain	1.0000
6:139247816:CTT:C	donor_gain	1.0000
6:139247816:CTTT:C	donor_gain	1.0000
6:139247816:CTTTG:C	donor_gain	1.0000
6:139247905:GTGAG:G	acceptor_gain	1.0000
6:139247906:TGAG:T	acceptor_gain	1.0000
6:139247907:GAG:G	acceptor_gain	1.0000
6:139247908:AG:A	acceptor_gain	1.0000

AlphaMissense

4520 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:139262616:A:G	L282P	1.000
6:139262628:A:G	L278P	1.000
6:139260386:C:G	A312P	0.999
6:139260394:A:G	L309P	0.999
6:139260400:T:G	Q307P	0.999
6:139260406:A:G	L305P	0.999
6:139260433:A:G	L296P	0.999
6:139262626:C:G	A279P	0.999
6:139262649:A:G	L271P	0.999
6:139262661:C:G	R267P	0.999
6:139262700:A:G	L254P	0.999
6:139262712:A:G	F250S	0.999
6:139270481:A:G	L221P	0.999
6:139270487:C:G	R219P	0.999
6:139270511:C:G	R211P	0.999
6:139243247:C:G	R445P	0.998
6:139247866:A:G	L374P	0.998
6:139247908:A:G	L360P	0.998
6:139260371:C:G	A317P	0.998
6:139260379:A:G	L314P	0.998
6:139262586:C:A	R292I	0.998
6:139262598:T:G	Q288P	0.998
6:139262616:A:T	L282Q	0.998
6:139262628:A:T	L278H	0.998
6:139262636:G:C	N275K	0.998
6:139262636:G:T	N275K	0.998
6:139262637:T:A	N275I	0.998
6:139262638:T:C	N275D	0.998
6:139262711:G:C	F250L	0.998
6:139262711:G:T	F250L	0.998

dbSNP variants (sampled 300 via entrez): RS1000014570 (6:139182436 G>GTT), RS1000015718 (6:139198003 C>T), RS1000040674 (6:139216630 A>G), RS1000040893 (6:139170304 C>G,T), RS1000041574 (6:139287812 C>T), RS1000045130 (6:139260907 C>T), RS1000050518 (6:139266519 T>C), RS1000054403 (6:139177312 G>A,C,T), RS1000068165 (6:139325186 G>A,T), RS1000094964 (6:139288177 A>G), RS1000107501 (6:139217057 A>G), RS1000112450 (6:139168793 T>C), RS1000139642 (6:139261280 C>A), RS1000179439 (6:139268586 T>C), RS1000190101 (6:139164320 G>A)

Disease associations

OMIM: gene MIM:611438 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST005240_1	Caudate volume in trauma-exposed individuals	2.000000e-07
GCST005956_33	Waist-to-hip ratio adjusted for BMI	6.000000e-09
GCST005962_46	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	6.000000e-08
GCST005987_41	Albumin-globulin ratio	8.000000e-11
GCST005990_57	Non-albumin protein levels	2.000000e-10
GCST006979_399	Heel bone mineral density	2.000000e-12

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004830	caudate nucleus volume
EFO:0008483	response to trauma exposure
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0005128	albumin:globulin ratio measurement
EFO:0009270	heel bone mineral density

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs9495425	TXLNB		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	3
triphenyl phosphate	affects expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	increases expression	1
CGP 52608	affects binding, increases reaction	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases expression, increases response to substance	1
incobotulinumtoxinA	decreases expression	1
Sunitinib	decreases expression	1
Arsenic	affects methylation	1
Doxorubicin	decreases expression	1
N-Nitrosopyrrolidine	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
Triclosan	decreases expression	1
Okadaic Acid	increases expression	1
Lactic Acid	increases expression	1

Clinical trials (associated diseases)

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