ANTXRL

Summary

ANTXRL (ANTXR like, HGNC:27277) is a protein-coding gene on chromosome 10q11.22, encoding Anthrax toxin receptor-like (A6NF34).

Predicted to enable transmembrane signaling receptor activity. Predicted to be located in membrane. Predicted to be active in cell surface and plasma membrane.

Source: NCBI Gene 195977 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 13 total
• MANE Select transcript: NM_001278688

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27277
Approved symbol	ANTXRL
Name	ANTXR like
Location	10q11.22
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000274209
Ensembl biotype	protein_coding
Entrez	195977

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 2 nonsense_mediated_decay, 2 protein_coding, 1 retained_intron

ENST00000610892, ENST00000614267, ENST00000617088, ENST00000619553, ENST00000620264

RefSeq mRNA: 2 — MANE Select: NM_001278688 NM_001278688, NM_001354208

CCDS: CCDS60524

Canonical transcript exons

ENST00000620264 — 17 exons

Exon	Start	End
ENSE00002698654	46298002	46298062
ENSE00003468695	46296019	46296100
ENSE00003540260	46293829	46293900
ENSE00003637013	46297831	46297911
ENSE00003714329	46329599	46330129
ENSE00003714865	46302722	46302820
ENSE00003718342	46297252	46297328
ENSE00003721019	46313236	46313316
ENSE00003722327	46286997	46287510
ENSE00003724050	46310461	46310499
ENSE00003730684	46311510	46311665
ENSE00003736769	46307402	46307480
ENSE00003737482	46296219	46296252
ENSE00003740820	46309113	46309202
ENSE00003744311	46297406	46297474
ENSE00003752303	46292058	46292129
ENSE00003752352	46306803	46306872

Expression profiles

Bgee: expression breadth ubiquitous, 112 present calls, max score 89.68.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	89.68	gold quality
left testis	UBERON:0004533	89.26	gold quality
testis	UBERON:0000473	88.46	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.98	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	78.10	gold quality
right uterine tube	UBERON:0001302	67.76	gold quality
left uterine tube	UBERON:0001303	64.47	gold quality
apex of heart	UBERON:0002098	61.94	gold quality
bone marrow	UBERON:0002371	61.44	gold quality
fallopian tube	UBERON:0003889	61.38	gold quality
blood	UBERON:0000178	61.04	gold quality
body of uterus	UBERON:0009853	56.53	gold quality
thoracic mammary gland	UBERON:0005200	56.48	gold quality
right coronary artery	UBERON:0001625	55.75	gold quality
right adrenal gland cortex	UBERON:0035827	55.71	gold quality
endocervix	UBERON:0000458	55.42	gold quality
lower esophagus muscularis layer	UBERON:0035833	54.80	gold quality
lower esophagus	UBERON:0013473	54.54	gold quality
ectocervix	UBERON:0012249	54.17	gold quality
bone marrow cell	CL:0002092	53.93	gold quality
myometrium	UBERON:0001296	52.79	gold quality
granulocyte	CL:0000094	52.58	gold quality
lymph node	UBERON:0000029	52.31	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	52.27	gold quality
right lobe of thyroid gland	UBERON:0001119	51.94	gold quality
right adrenal gland	UBERON:0001233	51.41	gold quality
smooth muscle tissue	UBERON:0001135	51.35	gold quality
uterine cervix	UBERON:0000002	51.21	gold quality
left adrenal gland	UBERON:0001234	51.13	gold quality
left lobe of thyroid gland	UBERON:0001120	50.50	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.81

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

2 targeting ANTXRL, 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-545-3P	99.95	70.74	2783
HSA-MIR-4432	97.80	67.87	705

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	antxr1d	ENSDARG00000060845
danio_rerio	antxr1c	ENSDARG00000063612
mus_musculus	Antxrl	ENSMUSG00000047441
mus_musculus	Gm30083	ENSMUSG00000115726
rattus_norvegicus	Antxrl1	ENSRNOG00000052152
rattus_norvegicus	AABR07024652.1	ENSRNOG00000060767

Paralogs (2): ANTXR2 (ENSG00000163297), ANTXR1 (ENSG00000169604)

Protein

Protein identifiers

Anthrax toxin receptor-like — A6NF34 (reviewed: A6NF34)

All UniProt accessions (5): A6NF34, A0A087WVD6, A0A087WW08, A0A087WXZ5, A0A2U7XUX1

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the ATR family.

RefSeq proteins (2): NP_001265617, NP_001341137 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002035	VWF_A	Domain
IPR008400	Anthrax_toxin_rcpt_extracel	Domain
IPR036465	vWFA_dom_sf	Homologous_superfamily

Pfam: PF00092, PF05587

UniProt features (13 total): binding site 3, topological domain 2, compositionally biased region 2, signal peptide 1, chain 1, sequence variant 1, transmembrane region 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NF34-F1	63.17	0.27

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (3): 86; 150; 84

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 11 (showing top): GOCC_CELL_SURFACE, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, E2F3_UP.V1_UP, GSE13522_CTRL_VS_T_CRUZI_Y_STRAIN_INF_SKIN_IFNG_KO_DN, ZNF92_TARGET_GENES, MIR4432, HARALAMBIEVA_PBMC_M_M_R_II_AGE_11_22YO_VACCINATED_VS_UNVACCINATED_7YR_DN, GSE13173_UNTREATED_VS_IL12_TREATED_ACT_CD8_TCELL_UP, GSE13887_RESTING_VS_ACT_CD4_TCELL_UP, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY, chr10q11

GO Biological Process (0):

GO Molecular Function (3): transmembrane signaling receptor activity (GO:0004888), metal ion binding (GO:0046872), signaling receptor activity (GO:0038023)

GO Cellular Component (3): plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
signaling receptor activity	1
cation binding	1
molecular transducer activity	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

646 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANTXRL	FAM25A	B3EWG3	595
ANTXRL	A0A087WTP8	A0A087WTP8	542
ANTXRL	A0A096LNH4	A0A096LNH4	508
ANTXRL	AGAP6	Q5VW22	507
ANTXRL	SYT15	Q9BQS2	482
ANTXRL	ZNF488	Q96MN9	476
ANTXRL	GRAMD1C	Q8IYS0	460
ANTXRL	KLHL32	Q96NJ5	452
ANTXRL	MOSPD1	Q9UJG1	438
ANTXRL	ZNF813	Q6ZN06	431
ANTXRL	ZFAND4	Q86XD8	427
ANTXRL	TMEM273	Q5T292	418
ANTXRL	ASAH2B	P0C7U1	417
ANTXRL	LRRC18	Q8N456	403
ANTXRL	FRMPD2	Q68DX3	400

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A1A5Q6, A6NF34, A6NNT2, B0BF33, D3ZF92, O43278, O75509, O88393, P08920, P08921, P25236, P26342, P35054, P49907, P49908, P51843, P70274, P70503, P79386, Q03167, Q05469, Q13342, Q1LVK9, Q4JF29, Q4R7B7, Q5F378, Q5QGU6, Q5R8W9, Q61066, Q6AY06, Q6P7C7, Q6S545, Q8BHP7, Q8BVM2, Q8VHF2, Q91ZV2, Q921T2, Q96PD2, Q99P91, Q99PS8

Diamond homologs: A6NF34, P58335, Q0PMD2, Q4R7B7, Q6DFX2, Q8BVM2, Q9CZ52, Q9H6X2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	2
Likely benign	1
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

2358 predictions. Top by Δscore:

Variant	Effect	Δscore
10:46293901:G:GG	donor_gain	1.0000
10:46296250:GAA:G	donor_gain	1.0000
10:46296253:G:GG	donor_gain	1.0000
10:46297324:GAGAA:G	donor_gain	1.0000
10:46297326:G:GT	donor_gain	1.0000
10:46297326:GAA:G	donor_gain	1.0000
10:46297329:G:GG	donor_gain	1.0000
10:46297912:G:GG	donor_gain	1.0000
10:46302716:TTGCA:T	acceptor_loss	1.0000
10:46302717:TGCAG:T	acceptor_loss	1.0000
10:46302718:GCAG:G	acceptor_loss	1.0000
10:46302719:CAGAA:C	acceptor_loss	1.0000
10:46302720:A:AG	acceptor_gain	1.0000
10:46302720:AGAAC:A	acceptor_loss	1.0000
10:46302721:G:GC	acceptor_gain	1.0000
10:46302721:G:GT	acceptor_loss	1.0000
10:46302721:GA:G	acceptor_gain	1.0000
10:46302721:GAA:G	acceptor_gain	1.0000
10:46302721:GAAC:G	acceptor_gain	1.0000
10:46302721:GAACC:G	acceptor_gain	1.0000
10:46302818:TTG:T	donor_gain	1.0000
10:46302820:GGTA:G	donor_loss	1.0000
10:46302821:G:GA	donor_loss	1.0000
10:46302821:G:GG	donor_gain	1.0000
10:46302822:TAA:T	donor_loss	1.0000
10:46306868:GGAGA:G	donor_gain	1.0000
10:46306869:GAGAG:G	donor_gain	1.0000
10:46306871:GA:G	donor_gain	1.0000
10:46306873:G:GG	donor_gain	1.0000
10:46307479:GT:G	donor_gain	1.0000

AlphaMissense

4164 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:46292082:G:C	W91C	0.992
10:46292082:G:T	W91C	0.992
10:46293860:T:C	S118P	0.991
10:46297406:G:C	A196P	0.991
10:46297882:T:C	F236L	0.991
10:46297884:C:A	F236L	0.991
10:46297884:C:G	F236L	0.991
10:46302755:T:G	F277C	0.991
10:46306841:T:A	C312S	0.989
10:46306842:G:C	C312S	0.989
10:46287507:A:T	D82V	0.988
10:46307421:A:C	S329R	0.988
10:46307423:C:A	S329R	0.988
10:46307423:C:G	S329R	0.988
10:46302787:T:A	C288S	0.986
10:46302788:G:C	C288S	0.986
10:46292080:T:A	W91R	0.985
10:46292080:T:C	W91R	0.985
10:46297419:G:C	R200P	0.984
10:46297276:C:A	A178D	0.983
10:46302754:T:C	F277L	0.983
10:46302756:T:A	F277L	0.983
10:46302756:T:G	F277L	0.983
10:46302793:T:C	F290L	0.983
10:46302795:T:A	F290L	0.983
10:46302795:T:G	F290L	0.983
10:46287507:A:C	D82A	0.982
10:46296093:T:C	F156S	0.982
10:46287508:C:A	D82E	0.981
10:46287508:C:G	D82E	0.981

dbSNP variants (sampled 300 via entrez): RS1000356057 (10:46325507 G>A), RS1000414541 (10:46318888 A>G), RS1000742492 (10:46323894 A>G), RS1000812060 (10:46325117 C>T), RS1002423765 (10:46285518 C>G,T), RS1002477787 (10:46285299 G>C), RS1002587814 (10:46320827 A>G), RS1002826140 (10:46322315 A>T), RS1003112063 (10:46321045 T>C), RS1004491600 (10:46285819 A>C), RS1004550042 (10:46321420 A>T), RS1004602276 (10:46321120 C>T), RS1004713673 (10:46284766 T>C), RS1004781501 (10:46285538 G>A,T), RS1005233831 (10:46284864 G>A,C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (1): male infertility (MONDO:0005372)

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D007248	Infertility, Male	C12.100.500.430; C12.100.750.700; C12.200.294.430

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aflatoxin B2	increases methylation	1
Benzo(a)pyrene	increases methylation	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02202382	PHASE4	COMPLETED	Effects of Korean Red Ginseng on Male Infertility
NCT02204826	PHASE4	COMPLETED	Effects of Korean Red Ginseng on Semen Parameters in Male Infertility Patients: a Randomized, Placebo-controlled, Double-blind Clinical Study
NCT03802864	PHASE4	COMPLETED	Post-operative Pain Control of Testicular Sperm Extraction Using Liposomal Bupivacaine
NCT06100432	PHASE4	ACTIVE_NOT_RECRUITING	Effect of Eurycoma Longifolia (DLBS5055) and Multivitamins (Vitamin C+Vitamin E+ β-carotene) for Infertile Males
NCT07523022	PHASE4	ENROLLING_BY_INVITATION	Comparison of the Effect of Gonadotropin and Clomiphene Citrate Treatment on Sperm Parameters and the Outcome of Assisted Reproductive Procedures in Subfertile Men Based on the APHRODITE Groups
NCT00975117	PHASE3	COMPLETED	Spermotrend in the Treatment of Male Infertility
NCT01407432	PHASE3	COMPLETED	Impact of Folates in the Care of the Male Infertility
NCT01895816	PHASE3	COMPLETED	Herbal Tonic Fertile Supplement(ZO2C5)
NCT02605070	PHASE3	TERMINATED	Pilot Study on the Effects of FSH Treatment on the Epigenetic Characteristics of Spermatozoa in Infertile Patients With Severe Oligozoospermia
NCT07402759	PHASE3	ACTIVE_NOT_RECRUITING	Impact of tdrd9 Gene Mutations in the Therapeutic Response to L-carnitine in Oligoasthenozoospermic Men
NCT01880086	PHASE2	COMPLETED	Clomiphene Citrate for the Treatment of Low Testosterone Associated With Chronic Opioid Pain Medication Administration
NCT02061384	PHASE2	COMPLETED	RA-2 13-cis Retinoic Acid (Isotretinoin)
NCT02421887	PHASE2	COMPLETED	Males, Antioxidants, and Infertility Trial
NCT05200663	PHASE2	UNKNOWN	Efficacy Comparison of Tamoxifen and Tamoxifen With Antioxidants on Semen Quality of Male With Idiopathic Infertility
NCT05290558	PHASE2	ACTIVE_NOT_RECRUITING	The Therapeutic Effects of Bu Shen Yi Jing Pill on Semen Quality in Sub Fertile Males: a Randomized Controlled Trial
NCT06091969	PHASE2	NOT_YET_RECRUITING	Supplementation for Male Subfertility
NCT01595308	PHASE1	COMPLETED	A Pilot Study to Evaluate the Effect of Pomegranate Juice on Semen Parameters in Healthy Male Volunteers
NCT02122211	PHASE1	COMPLETED	Choline Dehydrogenase and Sperm Function: Effects of Betaine
NCT02575924	PHASE1	UNKNOWN	Influence of Culture Media on Clinical Outcomes in Poor Responders or Severe Male Infertility
NCT01304927	PHASE2/PHASE3	COMPLETED	Vitamin D Supplementation and Male Infertility: The CBG-study a Randomized Clinical Trial
NCT02349945	PHASE2/PHASE3	COMPLETED	FSH Receptor Polymorphism p.N680S and Efficacy of FSH Therapy
NCT05222841	PHASE2/PHASE3	COMPLETED	The Effectiveness of Spermotrend Food Supplement in the Treatment of Male Infertility
NCT05616598	PHASE2/PHASE3	COMPLETED	Effect of New Oral Treatment for Hepatitis C Virus on Seminal Parameters
NCT02025270	PHASE1/PHASE2	COMPLETED	MSCs For Treatment of Azoospermic Patients
NCT04541459	EARLY_PHASE1	UNKNOWN	Validation of New Devices Against Ambient Electromagnetic Radiation
NCT05792813	EARLY_PHASE1	UNKNOWN	Efficacy and Safety of Linggui Yangyuan Paste in Patients With Male Infertility
NCT06188936	EARLY_PHASE1	COMPLETED	Home Semen Analysis Tests As a Screening Tool for Fertility Patients
NCT00012480	Not specified	COMPLETED	Effect of Environmental Exposures on the Egg Fertilizing Ability of Human Sperm
NCT00044369	Not specified	COMPLETED	Role of the Toxic Metal Cadmium in the Mechanism Producing Infertility With a Varicocele
NCT00119925	Not specified	UNKNOWN	‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists
NCT00178516	Not specified	COMPLETED	Vitamin E and Male Infertility
NCT00315029	Not specified	COMPLETED	Patient-Centered Implementation Trial for Single Embryo Transfer
NCT00341120	Not specified	COMPLETED	Genetic Causes of Male Infertility
NCT00481403	Not specified	COMPLETED	Study of Sperm Molecular Factors Implicated in Male Fertility
NCT00548977	Not specified	COMPLETED	Genetic Studies Spermatogenic Failure
NCT00596739	Not specified	COMPLETED	A Study of the Pre- and Post-operative Semen Analyses and Reproductive Hormone Levels of Men Undergoing Weight-reduction Surgery
NCT00756561	Not specified	COMPLETED	HOP-2A - Intratesticular Hormone Levels
NCT00961558	Not specified	TERMINATED	Canadian Varicocelectomy Initiative (CVI): Effects on Male Fertility and Testicular Function of Varicocelectomy
NCT01075334	Not specified	UNKNOWN	Is a Carnitine Based Food Supplement (PorimoreTM) for Infertile Men Superior to Folate and Zinc With Regard to Pregnancy Rates in Intrauterine Insemination Cycles?
NCT01178463	Not specified	UNKNOWN	Spermatogonial Stem Cells in Azoospermic Patients: a Comparison Between Obstructive and Non-obstructive Azoospermia