RABL2A
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Summary
RABL2A (RAB, member of RAS oncogene family like 2A, HGNC:9799) is a protein-coding gene on chromosome 2q14.1, encoding Rab-like protein 2A (Q9UBK7). Small GTPase that plays an essential role in male fertility, sperm intra-flagellar transport, and tail assembly. It is a selective cancer dependency (DepMap: 17.6% of cell lines).
This gene is a member of the RAB gene family which belongs to the RAS GTPase superfamily. The proteins in the family of RAS-related signaling molecules are small GTP-binding proteins that play important roles in the regulation of exocytotic and endocytotic pathways. This gene maps to the site of an ancestral telomere fusion event and may be a subtelomeric gene. Alternative splicing results in multiple transcript variants encoding different isoforms.
Source: NCBI Gene 11159 — RefSeq curated summary.
At a glance
- Gene–disease (curated): infertility disorder (Limited, GenCC)
- Clinical variants (ClinVar): 43 total
- Cancer dependency (DepMap): dependent in 17.6% of screened cell lines
- Dosage sensitivity (ClinGen): haploinsufficiency dosage sensitivity unlikely, triplosensitivity no evidence
- MANE Select transcript:
NM_001306158
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9799 |
| Approved symbol | RABL2A |
| Name | RAB, member of RAS oncogene family like 2A |
| Location | 2q14.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000144134 |
| Ensembl biotype | protein_coding |
| OMIM | 605412 |
| Entrez | 11159 |
Gene structure
Transcript identifiers
Ensembl transcripts: 51 — 40 protein_coding, 6 retained_intron, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000376439, ENST00000393165, ENST00000393166, ENST00000393167, ENST00000409121, ENST00000409842, ENST00000409875, ENST00000413545, ENST00000450954, ENST00000452831, ENST00000465711, ENST00000467600, ENST00000476236, ENST00000477218, ENST00000478880, ENST00000486403, ENST00000493876, ENST00000494909, ENST00000683472, ENST00000896779, ENST00000896780, ENST00000896781, ENST00000896782, ENST00000896783, ENST00000896784, ENST00000896785, ENST00000896786, ENST00000896787, ENST00000896788, ENST00000896789, ENST00000896790, ENST00000896791, ENST00000896792, ENST00000896793, ENST00000896794, ENST00000924793, ENST00000924794, ENST00000924795, ENST00000924796, ENST00000924797, ENST00000924798, ENST00000924799, ENST00000924800, ENST00000965202, ENST00000965203, ENST00000965204, ENST00000965205, ENST00000965206, ENST00000965207, ENST00000965208, ENST00000965209
RefSeq mRNA: 26 — MANE Select: NM_001306158
NM_001306158, NM_001306159, NM_001306160, NM_001306161, NM_001354405, NM_001354406, NM_001354407, NM_001354408, NM_001354409, NM_001354410, NM_001354412, NM_001354413, NM_001354414, NM_001354416, NM_001354417, NM_001354418, NM_001354419, NM_001354421, NM_001354423, NM_001354424, NM_001354425, NM_001354426, NM_001354427, NM_001354428, NM_007082, NM_013412
CCDS: CCDS2118, CCDS77454, CCDS77455, CCDS77456
Canonical transcript exons
ENST00000683472 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002497663 | 113628554 | 113628713 |
| ENSE00003464258 | 113632915 | 113632944 |
| ENSE00003482362 | 113634153 | 113634232 |
| ENSE00003489181 | 113635051 | 113635130 |
| ENSE00003518017 | 113641781 | 113641864 |
| ENSE00003551833 | 113641353 | 113641450 |
| ENSE00003594561 | 113640894 | 113641005 |
| ENSE00003648382 | 113642031 | 113643392 |
| ENSE00003921955 | 113627266 | 113627400 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 99.46.
FANTOM5 (CAGE): breadth broad, TPM avg 1.5675 / max 22.9176, expressed in 810 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 22160 | 1.5675 | 810 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 99.46 | gold quality |
| fallopian tube | UBERON:0003889 | 94.83 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 94.73 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 94.18 | gold quality |
| pituitary gland | UBERON:0000007 | 94.16 | gold quality |
| thyroid gland | UBERON:0002046 | 94.16 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 93.97 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 93.71 | gold quality |
| cerebellar cortex | UBERON:0002129 | 93.68 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 93.65 | gold quality |
| cerebellum | UBERON:0002037 | 93.59 | gold quality |
| adenohypophysis | UBERON:0002196 | 93.51 | gold quality |
| metanephros cortex | UBERON:0010533 | 93.27 | gold quality |
| nucleus accumbens | UBERON:0001882 | 93.20 | gold quality |
| endocervix | UBERON:0000458 | 93.04 | gold quality |
| left ovary | UBERON:0002119 | 92.89 | gold quality |
| right ovary | UBERON:0002118 | 92.87 | gold quality |
| caudate nucleus | UBERON:0001873 | 92.83 | gold quality |
| body of uterus | UBERON:0009853 | 92.83 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 92.78 | gold quality |
| left uterine tube | UBERON:0001303 | 92.68 | gold quality |
| ovary | UBERON:0000992 | 92.36 | gold quality |
| primary visual cortex | UBERON:0002436 | 92.26 | gold quality |
| right frontal lobe | UBERON:0002810 | 92.14 | gold quality |
| left testis | UBERON:0004533 | 92.00 | gold quality |
| Ammon’s horn | UBERON:0001954 | 91.99 | gold quality |
| right testis | UBERON:0004534 | 91.93 | gold quality |
| brain | UBERON:0000955 | 91.66 | gold quality |
| prostate gland | UBERON:0002367 | 91.61 | gold quality |
| hypothalamus | UBERON:0001898 | 91.57 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.01 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
61 targeting RABL2A, 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-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-652-5P | 99.91 | 67.49 | 505 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-3975 | 99.62 | 65.97 | 697 |
| HSA-MIR-7152-5P | 99.60 | 69.33 | 2094 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-4728-3P | 99.47 | 68.94 | 981 |
| HSA-MIR-147B-5P | 99.45 | 70.62 | 2432 |
| HSA-MIR-2392 | 99.43 | 67.50 | 708 |
| HSA-MIR-889-5P | 99.41 | 68.75 | 1025 |
| HSA-MIR-513A-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-513C-3P | 99.39 | 70.63 | 3620 |
Functional genomics
ClinGen dosage: haploinsufficiency 40 (dosage sensitivity unlikely), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
DepMap (CRISPR cell-line fitness): dependent in 17.6% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 6)
- In human samples no deviations of the euploid genomic state could be detected indicating that 22q13 microdeletions involving RABL2B are rare. (PMID:20138207)
- Suggest the 114391996 delC allele in the RABL2A gene may act as a risk factor for oligoasthenospermic infertility in Australian men. (PMID:24825419)
- RABL2 controls localization of GPR161 independently of TULP3, which promotes entry of ciliary GPCRs. (PMID:30578315)
- Variants in RABL2A causing male infertility and ciliopathy. (PMID:33075816)
- RABL2A-CCDC34 Axis Promotes Sorafenib Resistance in Hepatocellular Carcinoma. (PMID:34767735)
- Architecture of RabL2-associated complexes at the ciliary base: A structural modeling perspective: Deciphering the structural organization of ciliary RabL2 complexes. (PMID:38991980)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rabl2 | ENSDARG00000063321 |
| mus_musculus | Rabl2 | ENSMUSG00000022621 |
| rattus_norvegicus | Rabl2 | ENSRNOG00000013947 |
Paralogs (68): RAB27B (ENSG00000041353), RAB27A (ENSG00000069974), RAB7A (ENSG00000075785), RABL2B (ENSG00000079974), RAB21 (ENSG00000080371), RAB10 (ENSG00000084733), RAB18 (ENSG00000099246), RAB36 (ENSG00000100228), IFT27 (ENSG00000100360), RAB40AL (ENSG00000102128), RAB11A (ENSG00000103769), RAB2A (ENSG00000104388), RAB3D (ENSG00000105514), RAB3A (ENSG00000105649), RAB5C (ENSG00000108774), RAB34 (ENSG00000109113), RAB5B (ENSG00000111540), RAB35 (ENSG00000111737), RAB23 (ENSG00000112210), DNAJC27 (ENSG00000115137), RAB29 (ENSG00000117280), RAB32 (ENSG00000118508), RAB14 (ENSG00000119396), RAB9B (ENSG00000123570), RAB9A (ENSG00000123595), RAB38 (ENSG00000123892), RAB22A (ENSG00000124209), RAB17 (ENSG00000124839), RAB2B (ENSG00000129472), RAB25 (ENSG00000132698), RAB33A (ENSG00000134594), RAB30 (ENSG00000137502), RAB1A (ENSG00000138069), RAB20 (ENSG00000139832), RAB15 (ENSG00000139998), RAB40B (ENSG00000141542), RAB13 (ENSG00000143545), RAB5A (ENSG00000144566), RAB19 (ENSG00000146955), RAB41 (ENSG00000147127)
Protein
Protein identifiers
Rab-like protein 2A — Q9UBK7 (reviewed: Q9UBK7)
All UniProt accessions (6): Q9UBK7, B7ZBD4, B7ZBD5, E7EWW3, F2Z2E5, Q6IC14
UniProt curated annotations — full annotation on UniProt →
Function. Small GTPase that plays an essential role in male fertility, sperm intra-flagellar transport, and tail assembly. Binds, in a GTP-regulated manner, to a specific set of effector proteins including key proteins involved in cilia development and function and delivers them into the growing sperm tail.
Subunit / interactions. Interacts with IFT27, IFT81, IFT172, ATP6V1E1, HK1, LDHC, MAPRE1 and HSPA2.
Tissue specificity. Expressed in the testis.
Domain organisation. Switch I, switch II and the interswitch regions are characteristic of Rab GTPases and mediate the interactions with Rab downstream effectors. The switch regions undergo conformational changes upon nucleotide binding which drive interaction with specific sets of effector proteins, with most effectors only binding to GTP-bound Rab.
Similarity. Belongs to the small GTPase superfamily. Rab family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UBK7-1 | 1 | yes |
| Q9UBK7-2 | 2 | |
| Q9UBK7-3 | 3 |
RefSeq proteins (26): NP_001293087, NP_001293088, NP_001293089, NP_001293090, NP_001341334, NP_001341335, NP_001341336, NP_001341337, NP_001341338, NP_001341339, NP_001341341, NP_001341342, NP_001341343, NP_001341345, NP_001341346, NP_001341347, NP_001341348, NP_001341350, NP_001341352, NP_001341353, NP_001341354, NP_001341355, NP_001341356, NP_001341357, NP_009013, NP_038198 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001806 | Small_GTPase | Family |
| IPR005225 | Small_GTP-bd | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR041835 | RabL2 | Family |
Pfam: PF00071
Catalyzed reactions (Rhea), 1 shown:
- GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)
UniProt features (20 total): binding site 14, region of interest 3, splice variant 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UBK7-F1 | 79.80 | 0.50 |
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 (14): 53; 53; 76; 79; 133; 134; 136; 160; 30; 31; 33; 34 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 59 (showing top):
GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_CILIUM_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELL_PROJECTION_ORGANIZATION, chr2q14, GOCC_CILIUM, GOMF_GTPASE_ACTIVITY, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, GOBP_INTRACELLULAR_TRANSPORT, FOXN3_TARGET_GENES, IRF5_TARGET_GENES, NCOA2_TARGET_GENES, ZSCAN2_TARGET_GENES, MIR4261, MIR147B_5P
GO Biological Process (3): intracellular protein transport (GO:0006886), microtubule-based movement (GO:0007018), cilium assembly (GO:0060271)
GO Molecular Function (5): GTPase activity (GO:0003924), G protein activity (GO:0003925), GTP binding (GO:0005525), nucleotide binding (GO:0000166), protein binding (GO:0005515)
GO Cellular Component (2): cilium (GO:0005929), endomembrane system (GO:0012505)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular protein localization | 1 |
| protein transport | 1 |
| intracellular transport | 1 |
| microtubule-based process | 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 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| GTPase activity | 1 |
| molecular function regulator activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2193 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RABL2A | SHANK3 | Q9BYB0 | 923 |
| RABL2A | APPL2 | Q8NEU8 | 895 |
| RABL2A | CEP19 | Q96LK0 | 809 |
| RABL2A | ALG12 | Q9BV10 | 752 |
| RABL2A | IFT22 | Q9H7X7 | 553 |
| RABL2A | PIM3 | Q86V86 | 552 |
| RABL2A | RABGEF1 | Q9UJ41 | 493 |
| RABL2A | SHANK2 | Q9UPX8 | 471 |
| RABL2A | SULT4A1 | Q9BR01 | 447 |
| RABL2A | IFT27 | Q9BW83 | 437 |
| RABL2A | CCDC60 | Q8IWA6 | 434 |
| RABL2A | TBC1D22A | Q8WUA7 | 434 |
| RABL2A | ARL13B | Q3SXY8 | 430 |
| RABL2A | CPLX1 | O14810 | 424 |
| RABL2A | TEPSIN | Q96N21 | 419 |
IntAct
14 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RPP25 | POP7 | psi-mi:“MI:0914”(association) | 0.810 |
| CEP19 | CEP43 | psi-mi:“MI:0914”(association) | 0.770 |
| CEP19 | RABL2A | psi-mi:“MI:0915”(physical association) | 0.550 |
| BMP2K | RABL2A | psi-mi:“MI:0915”(physical association) | 0.490 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| PRKY | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPCL2 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| CCT8L2 | DVL2 | psi-mi:“MI:0914”(association) | 0.350 |
| RPP25 | RPP40 | psi-mi:“MI:0914”(association) | 0.350 |
| RABL2A | CEP43 | psi-mi:“MI:0914”(association) | 0.350 |
| CCDC34 | ACTBL2 | psi-mi:“MI:0914”(association) | 0.350 |
| EEF1AKMT3 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (38): CEP19 (Two-hybrid), RABL2A (Affinity Capture-MS), RABL2A (Affinity Capture-MS), AKAP11 (Affinity Capture-MS), VPS13A (Affinity Capture-MS), ALMS1 (Affinity Capture-MS), MTO1 (Affinity Capture-MS), BRCA2 (Affinity Capture-MS), POLA1 (Affinity Capture-MS), TP73 (Affinity Capture-MS), TTF2 (Affinity Capture-MS), RABL2A (Affinity Capture-MS), RABL2A (Affinity Capture-MS), FIGNL1 (Affinity Capture-MS), FHIT (Affinity Capture-MS)
ESM2 similar proteins: A0A8I5ZNK2, A1L1L6, A2YNT8, A9TF79, D4AE59, E9Q9D5, O54833, O95057, P19784, P20427, P24786, P43291, P43292, P49137, P49138, P87027, Q0D4J7, Q0GGW5, Q16288, Q16644, Q2HJF8, Q32LJ6, Q4R4K5, Q5E9J4, Q5FVJ7, Q5IFJ9, Q5IS37, Q5N942, Q5R573, Q5ZKR4, Q66H84, Q6NVC5, Q6ZI44, Q75H77, Q75LR7, Q75V57, Q7XQP4, Q8BG51, Q8IXI2, Q91604
Diamond homologs: E9Q9D5, G4MYS1, I1RMF2, O01803, O04486, O35509, O42819, O49513, O76173, O94655, P07560, P10536, P11620, P22125, P22129, P24408, P28185, P28187, P28188, P31584, P32939, P33519, P33723, P34139, P34140, P35293, P36412, P38545, P38555, P40392, P40393, P41924, P46638, P51151, P62490, P62491, P62492, P62493, P62494, P62820
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
43 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 36 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2520 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:113628714:G:GG | donor_gain | 1.0000 |
| 2:113641776:CCCA:C | acceptor_loss | 1.0000 |
| 2:113641777:CCAG:C | acceptor_loss | 1.0000 |
| 2:113641778:CA:C | acceptor_loss | 1.0000 |
| 2:113641779:A:AG | acceptor_gain | 1.0000 |
| 2:113641779:AGCTC:A | acceptor_loss | 1.0000 |
| 2:113641780:G:GA | acceptor_gain | 1.0000 |
| 2:113641780:GCT:G | acceptor_gain | 1.0000 |
| 2:113641860:TCGAG:T | donor_loss | 1.0000 |
| 2:113641862:GAGG:G | donor_loss | 1.0000 |
| 2:113641863:AGG:A | donor_loss | 1.0000 |
| 2:113641864:GGTA:G | donor_loss | 1.0000 |
| 2:113641865:GTAG:G | donor_loss | 1.0000 |
| 2:113642029:A:AG | acceptor_gain | 1.0000 |
| 2:113642030:G:GG | acceptor_gain | 1.0000 |
| 2:113642106:G:GT | donor_gain | 1.0000 |
| 2:113642126:C:G | donor_gain | 1.0000 |
| 2:113627267:G:GT | donor_gain | 0.9900 |
| 2:113627401:G:GG | donor_gain | 0.9900 |
| 2:113628549:GACA:G | acceptor_gain | 0.9900 |
| 2:113628699:A:AG | donor_gain | 0.9900 |
| 2:113628700:G:GG | donor_gain | 0.9900 |
| 2:113632909:TTACA:T | acceptor_loss | 0.9900 |
| 2:113632910:TACA:T | acceptor_loss | 0.9900 |
| 2:113632911:ACAG:A | acceptor_loss | 0.9900 |
| 2:113632912:CAGA:C | acceptor_loss | 0.9900 |
| 2:113632913:A:AG | acceptor_gain | 0.9900 |
| 2:113632913:A:T | acceptor_loss | 0.9900 |
| 2:113632914:G:GA | acceptor_loss | 0.9900 |
| 2:113632914:G:GG | acceptor_gain | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000348867 (2:113643839 C>A), RS1000687582 (2:113642484 T>A,C), RS1001245638 (2:113631331 A>G), RS1001300608 (2:113626696 G>A,T), RS1001631114 (2:113631066 T>G), RS1001658289 (2:113642680 C>G,T), RS1001966488 (2:113629796 C>T), RS1001993805 (2:113641269 T>A,C), RS1002360238 (2:113641066 C>T), RS1002565642 (2:113635669 C>T), RS1002677328 (2:113639644 T>C), RS1002917626 (2:113629950 T>G), RS1003247820 (2:113629006 G>A), RS1003555289 (2:113640396 A>G), RS1003637709 (2:113628853 G>A,C)
Disease associations
OMIM: gene MIM:605412 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| infertility disorder | Limited | Autosomal dominant |
Mondo (1): infertility disorder (MONDO:0005047)
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 |
|---|---|---|
| D007246 | Infertility | C12.100.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Smoke | decreases expression, increases abundance, increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Arsenic | decreases expression, increases abundance, affects cotreatment | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Cisplatin | increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | affects expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| Methylcholanthrene | affects binding, increases reaction | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Urethane | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Gold Compounds | increases expression | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
| Okadaic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
103 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01388907 | PHASE4 | COMPLETED | Efficacity Assessment of PREVADH® in Adhesion Prevention in Gynaecologic Surgery |
| NCT01430650 | PHASE4 | COMPLETED | Endometrial Priming for Embryo Transfer |
| NCT02607319 | PHASE4 | COMPLETED | Low Molecular Weight Heparin to Improve Pregnancy Outcome in Patients With Recurrent Implantation Failure |
| NCT03169166 | PHASE4 | COMPLETED | The Use of GnRH Agonist Trigger for Final Follicle Maturation in Women Undergoing Assisted Reproductive Technologies |
| NCT03177122 | PHASE4 | UNKNOWN | Myo-Inositol- Based Co-treatment in Women With PCOS Undergoing Assisted Reproductive Technology |
| NCT03477929 | PHASE4 | UNKNOWN | Cetrorelix and Ganirelix Flexible Protocol for (IVF) |
| NCT03619707 | PHASE4 | COMPLETED | Oral Versus Vaginal Progesterone in the Luteal Support in Cryo-warmed Embryo Transfer Cycles |
| NCT03846544 | PHASE4 | COMPLETED | Double Pick up in Poor Prognosis Women |
| NCT05725512 | PHASE4 | RECRUITING | Prednisolone Administration in Patients With Unexplained REcurrent MIscarriages |
| NCT06195163 | PHASE4 | NOT_YET_RECRUITING | TRAP Study: Testosterone for Androgen Receptor Polymorphism |
| NCT06763926 | PHASE4 | NOT_YET_RECRUITING | Intranasal Nafarelin For Triggering Oocyte Maturation |
| NCT00749853 | PHASE3 | SUSPENDED | Efficacy of Ovarian Stimulation Based on FSHR Genotype Status |
| NCT03238092 | PHASE3 | UNKNOWN | Comparison Between Testosterone and Estradiol Over the Homogenization of Follicular Cohort |
| NCT03803228 | PHASE3 | COMPLETED | Dual Ovarian Stimulation (DUOSTIM) for Poor Ovarian Responders |
| NCT04701034 | PHASE2 | COMPLETED | Intravenous Immunoglobulin and Prednisolone for RPL After ART. |
| NCT04850261 | PHASE2 | WITHDRAWN | Injection Free IVF |
| NCT06997900 | PHASE2 | RECRUITING | Menopur And Rekovelle Combination Study Version 2.0 |
| NCT01330771 | Not specified | COMPLETED | Assessment of the Therapeutic Utility of r-FSH in Association With hMG-HP |
| NCT01330784 | Not specified | COMPLETED | Assessment of the Therapeutic Utility of hMG-HP |
| NCT01331720 | Not specified | COMPLETED | Assessment of the Effectiveness and Tolerability of Ovarian Hyperstimulation |
| NCT01331733 | Not specified | COMPLETED | Comparative Assessment of the Clinical Utility of Ovarian Stimulation With Menotropin Versus Menotropin Plus GnRH Antagonist |
| NCT01406964 | Not specified | COMPLETED | Chlamidia Antibodies Test for Tubal Factor Screening |
| NCT01533350 | Not specified | COMPLETED | Receptivity Assessment of Homogeneous Endometrium in Late Follicle Phase |
| NCT01955356 | Not specified | COMPLETED | Embryo Implantation After Induced Endometrial Injury |
| NCT02081924 | Not specified | RECRUITING | Reproductive Hormones During Sustained Administration of Kisspeptin |
| NCT02648555 | Not specified | UNKNOWN | A Lifestyle Intervention to Improve in Vitro Fertilization Results |
| NCT03007043 | Not specified | COMPLETED | Genetic Variation in Gonadotropin and Gonadotropin Receptor Genes and Suboptimal Response |
| NCT03023774 | Not specified | COMPLETED | Use of Gcsf in Patients With Recurrent Ivf/Icsi Failure |
| NCT03065114 | Not specified | COMPLETED | Retrospective Study on Clinical Results of Preimplantation Genetic Screening at Different Embryo Stage |
| NCT03085212 | Not specified | ACTIVE_NOT_RECRUITING | Strategies for Pregnancy Achievement |
| NCT03085433 | Not specified | COMPLETED | Sperm Selection by Microfluidic Separation Improves Embryo Quality |
| NCT03118219 | Not specified | COMPLETED | Positive Adjustment Coping Intervention |
| NCT03156374 | Not specified | COMPLETED | Timing Frozen Embryo Transfer by Following Two Different Methods |
| NCT03161873 | Not specified | COMPLETED | Cycle and Pregnancy Monitoring With Wearable Sensor Technology (AVA) |
| NCT03173404 | Not specified | COMPLETED | Benefits of Hysteroscopy Prior to Performing a Cycle of in Vitro Fertilization/Intracytoplasmic Sperm Injection |
| NCT03180827 | Not specified | ACTIVE_NOT_RECRUITING | Female Fertility Preservation Using Ovarian Tissue Cryopreservation Before Highly Gonadotoxic Cancer Treatment |
| NCT03180918 | Not specified | RECRUITING | Male Fertility Preservation Using Cryopreservation of Testicular Tissue Before Highly Gonadotoxic Cancer Treatment |
| NCT03250195 | Not specified | TERMINATED | Non-invasive Detection of Male Infertility With FDG-PET/MRI (Spectroscopy and DWI) |
| NCT03269916 | Not specified | UNKNOWN | Fertility and Ovarian Reserve Function in the Patient With Inflammatory Bowel Disease |
| NCT03290911 | Not specified | COMPLETED | Retrospective Trial on Low Prognosis Infertile Patients |
Related Atlas pages
- Associated diseases: infertility disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): infertility disorder