ATP6V1C2
gene geneOn this page
Also known as VMA5ATP6C2
Summary
ATP6V1C2 (ATPase H+ transporting V1 subunit C2, HGNC:18264) is a protein-coding gene on chromosome 2p25.1, encoding V-type proton ATPase subunit C 2 (Q8NEY4). Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons.
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A,three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms.
Source: NCBI Gene 245973 — RefSeq curated summary.
At a glance
- Gene–disease (curated): distal renal tubular acidosis (Limited, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 107 total — 1 likely-pathogenic
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_001039362
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18264 |
| Approved symbol | ATP6V1C2 |
| Name | ATPase H+ transporting V1 subunit C2 |
| Location | 2p25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | VMA5, ATP6C2 |
| Ensembl gene | ENSG00000143882 |
| Ensembl biotype | protein_coding |
| OMIM | 618070 |
| Entrez | 245973 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 8 protein_coding, 1 retained_intron
ENST00000272238, ENST00000381661, ENST00000480289, ENST00000635370, ENST00000648362, ENST00000852112, ENST00000852113, ENST00000852114, ENST00000921476
RefSeq mRNA: 3 — MANE Select: NM_001039362
NM_001039362, NM_001410707, NM_144583
CCDS: CCDS1674, CCDS42653, CCDS92714
Canonical transcript exons
ENST00000272238 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000962453 | 10764331 | 10764425 |
| ENSE00000962454 | 10768719 | 10768810 |
| ENSE00000962455 | 10771839 | 10771937 |
| ENSE00000962456 | 10772542 | 10772610 |
| ENSE00000962457 | 10774788 | 10774880 |
| ENSE00000962458 | 10774978 | 10775071 |
| ENSE00000962459 | 10778572 | 10778669 |
| ENSE00001137489 | 10753981 | 10754066 |
| ENSE00001137496 | 10726502 | 10726569 |
| ENSE00001155934 | 10783174 | 10785110 |
| ENSE00001489408 | 10722824 | 10722978 |
| ENSE00001524203 | 10777585 | 10777722 |
| ENSE00003519200 | 10782243 | 10782375 |
| ENSE00003848900 | 10721630 | 10721731 |
Expression profiles
Bgee: expression breadth ubiquitous, 181 present calls, max score 97.92.
FANTOM5 (CAGE): breadth broad, TPM avg 1.0387 / max 103.8840, expressed in 198 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 18853 | 0.9482 | 186 |
| 18854 | 0.0906 | 47 |
Top tissues by expression
242 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| skin of abdomen | UBERON:0001416 | 97.92 | gold quality |
| skin of leg | UBERON:0001511 | 97.82 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 97.29 | gold quality |
| secondary oocyte | CL:0000655 | 96.62 | gold quality |
| zone of skin | UBERON:0000014 | 95.90 | gold quality |
| minor salivary gland | UBERON:0001830 | 94.89 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 94.53 | gold quality |
| oocyte | CL:0000023 | 93.88 | gold quality |
| metanephros cortex | UBERON:0010533 | 93.39 | gold quality |
| mouth mucosa | UBERON:0003729 | 91.77 | gold quality |
| adenohypophysis | UBERON:0002196 | 91.18 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 89.85 | gold quality |
| pituitary gland | UBERON:0000007 | 89.34 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 88.95 | gold quality |
| upper leg skin | UBERON:0004262 | 88.93 | gold quality |
| parotid gland | UBERON:0001831 | 88.40 | gold quality |
| placenta | UBERON:0001987 | 87.73 | gold quality |
| mammalian vulva | UBERON:0000997 | 87.63 | gold quality |
| esophagus mucosa | UBERON:0002469 | 86.65 | gold quality |
| cortex of kidney | UBERON:0001225 | 85.98 | gold quality |
| penis | UBERON:0000989 | 85.96 | gold quality |
| corpus epididymis | UBERON:0004359 | 85.77 | gold quality |
| amniotic fluid | UBERON:0000173 | 83.48 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 83.43 | gold quality |
| kidney | UBERON:0002113 | 83.29 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.11 | gold quality |
| skin of hip | UBERON:0001554 | 82.59 | gold quality |
| vagina | UBERON:0000996 | 82.57 | gold quality |
| metanephros | UBERON:0000081 | 82.16 | gold quality |
| buccal mucosa cell | CL:0002336 | 81.65 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-131882 | yes | 919.24 |
| E-MTAB-6108 | yes | 462.60 |
| E-CURD-119 | yes | 49.45 |
| E-MTAB-9543 | yes | 31.02 |
| E-ANND-3 | yes | 11.70 |
| E-CURD-114 | yes | 10.67 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
81 targeting ATP6V1C2, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-3162-3P | 100.00 | 65.37 | 363 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
| HSA-MIR-3617-5P | 99.75 | 69.41 | 1968 |
| HSA-MIR-641 | 99.75 | 69.35 | 1975 |
| HSA-MIR-199A-3P | 99.75 | 70.48 | 929 |
| HSA-MIR-199B-3P | 99.75 | 70.48 | 929 |
| HSA-MIR-3129-5P | 99.75 | 70.46 | 914 |
Literature-anchored findings (GeneRIF, showing 2)
- Multi-cancer V-ATPase molecular signatures: A distinctive balance of subunit C isoforms in esophageal carcinoma. (PMID:31901859)
- Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis. (PMID:31959358)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | atp6v1c2 | ENSDARG00000070440 |
| mus_musculus | Atp6v1c2 | ENSMUSG00000020566 |
| rattus_norvegicus | Atp6v1c2 | ENSRNOG00000050553 |
| drosophila_melanogaster | Vha44 | FBGN0287825 |
| caenorhabditis_elegans | WBGENE00006920 |
Paralogs (1): ATP6V1C1 (ENSG00000155097)
Protein
Protein identifiers
V-type proton ATPase subunit C 2 — Q8NEY4 (reviewed: Q8NEY4)
Alternative names: Vacuolar proton pump subunit C 2
All UniProt accessions (3): Q8NEY4, A0A0U1RR16, A0A3B3IRZ7
UniProt curated annotations — full annotation on UniProt →
Function. Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons. V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity.
Subunit / interactions. V-ATPase is a heteromultimeric enzyme made up of two complexes: the ATP-hydrolytic V1 complex and the proton translocation V0 complex. The V1 complex consists of three catalytic AB heterodimers that form a heterohexamer, three peripheral stalks each consisting of EG heterodimers, one central rotor including subunits D and F, and the regulatory subunits C and H. The proton translocation complex V0 consists of the proton transport subunit a, a ring of proteolipid subunits c9c’’, rotary subunit d, subunits e and f, and the accessory subunits ATP6AP1/Ac45 and ATP6AP2/PRR.
Tissue specificity. Kidney and placenta.
Similarity. Belongs to the V-ATPase C subunit family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NEY4-1 | 1 | yes |
| Q8NEY4-2 | 2 |
RefSeq proteins (3): NP_001034451, NP_001397636, NP_653184 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004907 | ATPase_V1-cplx_csu | Family |
| IPR036132 | Vac_ATP_synth_c_sf | Homologous_superfamily |
Pfam: PF03223
UniProt features (4 total): chain 1, region of interest 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NEY4-F1 | 86.29 | 0.72 |
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-1222556 | ROS and RNS production in phagocytes |
| R-HSA-77387 | Insulin receptor recycling |
| R-HSA-917977 | Transferrin endocytosis and recycling |
| R-HSA-9639288 | Amino acids regulate mTORC1 |
| R-HSA-983712 | Ion channel transport |
MSigDB gene sets: 137 (showing top):
SHEPARD_BMYB_MORPHOLINO_UP, REACTOME_SIGNALING_BY_INSULIN_RECEPTOR, AP1_01, chr2p25, GOBP_REGULATION_OF_AUTOPHAGY, REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_VACUOLAR_MEMBRANE, AAGCCAT_MIR135A_MIR135B, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_MACROAUTOPHAGY, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOMF_PROTON_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY, CERVERA_SDHB_TARGETS_1_UP
GO Biological Process (4): regulation of macroautophagy (GO:0016241), positive regulation of Wnt signaling pathway (GO:0030177), monoatomic ion transport (GO:0006811), proton transmembrane transport (GO:1902600)
GO Molecular Function (4): identical protein binding (GO:0042802), proton-transporting ATPase activity, rotational mechanism (GO:0046961), protein binding (GO:0005515), proton transmembrane transporter activity (GO:0015078)
GO Cellular Component (5): vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221), lysosomal membrane (GO:0005765), cytosol (GO:0005829), extracellular exosome (GO:0070062), proton-transporting V-type ATPase, V1 domain (GO:0033180)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
| Signaling by Insulin receptor | 1 |
| Iron uptake and transport | 1 |
| Cellular response to starvation | 1 |
| Transport of small molecules | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of autophagy | 1 |
| macroautophagy | 1 |
| positive regulation of signal transduction | 1 |
| Wnt signaling pathway | 1 |
| regulation of Wnt signaling pathway | 1 |
| transport | 1 |
| monoatomic cation transmembrane transport | 1 |
| protein binding | 1 |
| proton transmembrane transporter activity | 1 |
| ATPase-coupled monoatomic cation transmembrane transporter activity | 1 |
| ATPase activity, coupled to transmembrane movement of ions, rotational mechanism | 1 |
| binding | 1 |
| monoatomic cation transmembrane transporter activity | 1 |
| proton transmembrane transport | 1 |
| vacuole | 1 |
| vacuolar proton-transporting V-type ATPase complex | 1 |
| proton-transporting V-type ATPase, V1 domain | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
| extracellular vesicle | 1 |
| proton-transporting V-type ATPase complex | 1 |
| proton-transporting two-sector ATPase complex, catalytic domain | 1 |
Protein interactions and networks
STRING
1065 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ATP6V1C2 | ATP6V1B1 | P15313 | 860 |
| ATP6V1C2 | ATP6V1E2 | Q96A05 | 851 |
| ATP6V1C2 | ATP6V0A4 | Q9HBG4 | 840 |
| ATP6V1C2 | ATP6V1D | Q9Y5K8 | 823 |
| ATP6V1C2 | ATP6V1B2 | P21281 | 815 |
| ATP6V1C2 | ATP6V1F | Q16864 | 815 |
| ATP6V1C2 | ATP6V1A | P38606 | 806 |
| ATP6V1C2 | KCNF1 | Q9H3M0 | 800 |
| ATP6V1C2 | ATP6V1H | Q9UI12 | 799 |
| ATP6V1C2 | ATP6V1E1 | P36543 | 794 |
| ATP6V1C2 | ATP6V0D1 | P12953 | 792 |
| ATP6V1C2 | ATP6V0A1 | Q93050 | 786 |
| ATP6V1C2 | ATP6V0B | Q99437 | 779 |
| ATP6V1C2 | ATP6V0A2 | Q9Y487 | 775 |
| ATP6V1C2 | TCIRG1 | Q13488 | 773 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ATP6V1C2 | ATP6V1G1 | psi-mi:“MI:0914”(association) | 0.640 |
| SYT5 | SYT1 | psi-mi:“MI:0914”(association) | 0.530 |
| ATP6V1G2 | ATP6V1B1 | psi-mi:“MI:0914”(association) | 0.530 |
| ATP6V1C2 | GOLGA2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ATP6V1C2 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| ATP6V1B1 | ATP6V1G1 | psi-mi:“MI:0914”(association) | 0.350 |
| CKM | ATP6V1C2 | psi-mi:“MI:0914”(association) | 0.350 |
| PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 | |
| HLA-C | psi-mi:“MI:0914”(association) | 0.350 | |
| ATP6V1C2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (88): ATP6V1C2 (Two-hybrid), ATP6V1C2 (Affinity Capture-MS), STK24 (Affinity Capture-MS), ATP6V1E2 (Affinity Capture-MS), ATP6V1E1 (Affinity Capture-MS), POTEF (Affinity Capture-MS), ATP6V1A (Affinity Capture-MS), ATP6V1C1 (Affinity Capture-MS), DMXL1 (Affinity Capture-MS), ATP6V1D (Affinity Capture-MS), ATP6V1B2 (Affinity Capture-MS), ATP6V1F (Affinity Capture-MS), ATP6V1G1 (Affinity Capture-MS), ATP6V1G2 (Affinity Capture-MS), HECTD1 (Affinity Capture-MS)
ESM2 similar proteins: A0JN39, A5A6M4, B5DGH9, D2SW95, D5LHJ0, P11029, P11497, P17426, P21282, P21283, P23514, P53618, Q05AY2, Q0JNK5, Q13085, Q1LUA8, Q28559, Q39097, Q3B8M3, Q3ZCK1, Q4R5H9, Q53PC7, Q5F428, Q5FVI6, Q5R922, Q5RDQ7, Q5SWU9, Q5XGY9, Q5XH14, Q5XIY6, Q5ZIA5, Q5ZLA5, Q66HV4, Q6AYE4, Q6DRI1, Q6P4Y9, Q6P7L9, Q7T385, Q8IWZ6, Q8K2G4
Diamond homologs: P21282, P21283, P31412, P54648, Q4R5H9, Q5FVI6, Q5RDQ7, Q5XH14, Q5XIY6, Q612A4, Q6AYE4, Q6P4Y9, Q7T385, Q8NEY4, Q99L60, Q9NDR5, Q9SCB9, Q9SDS7, Q9U5N1, Q9V7N5, Q9XXU9, Q9Z1G3, Q9HDW6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
107 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 81 |
| Likely benign | 2 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1344706 | NM_001039362.2(ATP6V1C2):c.503T>C (p.Ile168Thr) | Likely pathogenic |
SpliceAI
3540 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:10753976:CAAA:C | acceptor_loss | 1.0000 |
| 2:10753977:A:AG | acceptor_gain | 1.0000 |
| 2:10753978:A:G | acceptor_gain | 1.0000 |
| 2:10753979:A:G | acceptor_gain | 1.0000 |
| 2:10753979:AGC:A | acceptor_loss | 1.0000 |
| 2:10753980:G:GC | acceptor_gain | 1.0000 |
| 2:10753980:G:GT | acceptor_loss | 1.0000 |
| 2:10753980:GC:G | acceptor_gain | 1.0000 |
| 2:10753980:GCCTC:G | acceptor_gain | 1.0000 |
| 2:10768811:G:GG | donor_gain | 1.0000 |
| 2:10771826:A:AG | acceptor_gain | 1.0000 |
| 2:10771826:ACCT:A | acceptor_gain | 1.0000 |
| 2:10771827:C:G | acceptor_gain | 1.0000 |
| 2:10771829:T:TA | acceptor_gain | 1.0000 |
| 2:10771833:TTTTA:T | acceptor_loss | 1.0000 |
| 2:10771834:TTTA:T | acceptor_loss | 1.0000 |
| 2:10771835:TTA:T | acceptor_loss | 1.0000 |
| 2:10771836:TAG:T | acceptor_loss | 1.0000 |
| 2:10771837:A:AG | acceptor_gain | 1.0000 |
| 2:10771837:AG:A | acceptor_gain | 1.0000 |
| 2:10771837:AGG:A | acceptor_gain | 1.0000 |
| 2:10771837:AGGG:A | acceptor_gain | 1.0000 |
| 2:10771837:AGGGG:A | acceptor_gain | 1.0000 |
| 2:10771838:G:GC | acceptor_gain | 1.0000 |
| 2:10771838:GG:G | acceptor_gain | 1.0000 |
| 2:10771838:GGG:G | acceptor_gain | 1.0000 |
| 2:10771838:GGGG:G | acceptor_gain | 1.0000 |
| 2:10771838:GGGGG:G | acceptor_gain | 1.0000 |
| 2:10771938:G:GG | donor_gain | 1.0000 |
| 2:10772054:G:GT | donor_gain | 1.0000 |
AlphaMissense
2803 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:10764363:T:A | W106R | 1.000 |
| 2:10764363:T:C | W106R | 1.000 |
| 2:10764365:G:C | W106C | 0.998 |
| 2:10764365:G:T | W106C | 0.998 |
| 2:10772558:T:A | W196R | 0.998 |
| 2:10772558:T:C | W196R | 0.998 |
| 2:10772595:T:A | V208D | 0.998 |
| 2:10778659:T:C | S351P | 0.998 |
| 2:10778666:T:C | L353P | 0.998 |
| 2:10726521:T:C | L50P | 0.997 |
| 2:10778660:C:T | S351F | 0.997 |
| 2:10782248:G:A | G356E | 0.997 |
| 2:10782323:T:C | L381P | 0.997 |
| 2:10726512:T:C | L47S | 0.996 |
| 2:10764364:G:C | W106S | 0.996 |
| 2:10771931:T:A | V188D | 0.996 |
| 2:10782278:T:C | L366P | 0.996 |
| 2:10771910:T:C | L181P | 0.995 |
| 2:10772603:T:C | S211P | 0.995 |
| 2:10778669:G:C | R354T | 0.995 |
| 2:10778669:G:T | R354M | 0.995 |
| 2:10782243:G:C | R354S | 0.995 |
| 2:10782243:G:T | R354S | 0.995 |
| 2:10783225:T:G | Y416D | 0.995 |
| 2:10783229:T:A | V417D | 0.995 |
| 2:10774817:T:C | L223P | 0.994 |
| 2:10778666:T:A | L353H | 0.994 |
| 2:10722866:T:C | L6S | 0.993 |
| 2:10722869:T:A | I7N | 0.993 |
| 2:10722872:C:T | S8F | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000026625 (2:10747853 TTTTTTCTTTTTC>T,TTTTTTC,TTTTTTCTTTTTCTTTTTC), RS1000039183 (2:10722255 C>T), RS1000073349 (2:10734069 A>G,T), RS1000265537 (2:10719814 A>T), RS1000283816 (2:10740129 T>G), RS1000321659 (2:10729369 G>A), RS1000337393 (2:10731416 G>A), RS1000340755 (2:10735569 G>A), RS1000369306 (2:10741697 A>G), RS1000407392 (2:10764135 T>C), RS1000467753 (2:10769421 G>A), RS1000578944 (2:10729825 A>G), RS1000603022 (2:10769185 G>A), RS1000684858 (2:10743159 C>G), RS1000706962 (2:10778869 C>A,T)
Disease associations
OMIM: gene MIM:618070 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| distal renal tubular acidosis | Limited | Autosomal recessive |
Mondo (3): distal renal tubular acidosis (MONDO:0015827), male infertility (MONDO:0005372), megacolon (MONDO:0001273)
Orphanet (1): Distal renal tubular acidosis (Orphanet:18)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0008341 | Distal renal tubular acidosis |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001776_12 | Cardiac Troponin-T levels | 2.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005043 | cardiac troponin T measurement |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D007248 | Infertility, Male | C12.100.500.430; C12.100.750.700; C12.200.294.430 |
| D008531 | Megacolon | C06.405.469.158.701 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — V-type ATPase
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression | 4 |
| Arsenic | decreases expression, increases abundance, affects methylation | 2 |
| Benzo(a)pyrene | increases expression, increases methylation | 2 |
| Estradiol | affects binding, increases expression | 2 |
| Tobacco Smoke Pollution | affects expression, decreases expression | 2 |
| urushiol | increases expression | 1 |
| bisphenol A | increases expression | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| 2,4,5,2’,4’,5’-hexachlorobiphenyl | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| hydroquinone | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Cisplatin | affects response to substance | 1 |
| Dibutyl Phthalate | affects expression | 1 |
| Lead | increases expression | 1 |
| Nickel | decreases expression | 1 |
| Rotenone | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| beta-Naphthoflavone | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| S-Nitrosoglutathione | decreases expression | 1 |
Clinical trials (associated diseases)
128 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 |
| NCT03644706 | PHASE3 | TERMINATED | Study Evaluating Subjects With Distal Renal Tubular Acidosis |
| 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? |
Related Atlas pages
- Associated diseases: distal renal tubular acidosis
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): distal renal tubular acidosis, male infertility, megacolon