KATNAL1
geneOn this page
Also known as MGC2599
Summary
KATNAL1 (katanin catalytic subunit A1 like 1, HGNC:28361) is a protein-coding gene on chromosome 13q12.3, encoding Katanin p60 ATPase-containing subunit A-like 1 (Q9BW62). Regulates microtubule dynamics in Sertoli cells, a process that is essential for spermiogenesis and male fertility.
Enables identical protein binding activity and microtubule severing ATPase activity. Involved in microtubule severing. Located in cytosol; microtubule cytoskeleton; and mitochondrion. Part of katanin complex.
Source: NCBI Gene 84056 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 77 total
- MANE Select transcript:
NM_032116
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28361 |
| Approved symbol | KATNAL1 |
| Name | katanin catalytic subunit A1 like 1 |
| Location | 13q12.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC2599 |
| Ensembl gene | ENSG00000102781 |
| Ensembl biotype | protein_coding |
| OMIM | 614764 |
| Entrez | 84056 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 13 protein_coding, 1 retained_intron
ENST00000380615, ENST00000380617, ENST00000414289, ENST00000441394, ENST00000480854, ENST00000908521, ENST00000908522, ENST00000908523, ENST00000908524, ENST00000908525, ENST00000931886, ENST00000931887, ENST00000961620, ENST00000961621
RefSeq mRNA: 2 — MANE Select: NM_032116
NM_001014380, NM_032116
CCDS: CCDS31956
Canonical transcript exons
ENST00000380615 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000679854 | 30280063 | 30280223 |
| ENSE00000679860 | 30283616 | 30283791 |
| ENSE00001360482 | 30307331 | 30307551 |
| ENSE00001485635 | 30202630 | 30208738 |
| ENSE00001591927 | 30240959 | 30241086 |
| ENSE00001631493 | 30230468 | 30230594 |
| ENSE00001691297 | 30210316 | 30210442 |
| ENSE00001719116 | 30227412 | 30227546 |
| ENSE00001799781 | 30231314 | 30231472 |
| ENSE00001802288 | 30240460 | 30240565 |
| ENSE00002189316 | 30255447 | 30255615 |
Expression profiles
Bgee: expression breadth ubiquitous, 249 present calls, max score 96.49.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.3032 / max 215.3042, expressed in 1696 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 136624 | 3.3984 | 1207 |
| 136625 | 1.8136 | 1125 |
| 136622 | 1.7048 | 852 |
| 136623 | 0.8065 | 490 |
| 136626 | 0.5799 | 341 |
Top tissues by expression
253 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 96.49 | gold quality |
| oocyte | CL:0000023 | 95.46 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 95.16 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 94.79 | gold quality |
| sperm | CL:0000019 | 92.98 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 92.92 | gold quality |
| endothelial cell | CL:0000115 | 92.81 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.90 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 91.51 | gold quality |
| myocardium | UBERON:0002349 | 90.99 | gold quality |
| heart right ventricle | UBERON:0002080 | 90.72 | gold quality |
| corpus callosum | UBERON:0002336 | 89.36 | gold quality |
| tendon | UBERON:0000043 | 89.33 | gold quality |
| postcentral gyrus | UBERON:0002581 | 88.92 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 88.02 | gold quality |
| parietal lobe | UBERON:0001872 | 87.89 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.45 | gold quality |
| entorhinal cortex | UBERON:0002728 | 87.21 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.94 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 86.78 | gold quality |
| pons | UBERON:0000988 | 86.77 | gold quality |
| saphenous vein | UBERON:0007318 | 86.73 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 86.36 | gold quality |
| sural nerve | UBERON:0015488 | 85.96 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 85.83 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 85.44 | gold quality |
| cortical plate | UBERON:0005343 | 85.26 | gold quality |
| decidua | UBERON:0002450 | 85.13 | gold quality |
| ventricular zone | UBERON:0003053 | 84.71 | gold quality |
| parietal pleura | UBERON:0002400 | 84.68 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.46 |
| E-CURD-10 | no | 239.46 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F4
miRNA regulators (miRDB)
250 targeting KATNAL1, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| 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-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
Literature-anchored findings (GeneRIF, showing 4)
- KL1-mediated microtubule severing is utilized to generate microtubule seeds within the poles and loss of this activity alters the normal balance of motor-generated forces that determine spindle length. (PMID:20519956)
- microdeletion 13q12.3 represents a novel clinically recognizable condition and that the microtubule severing gene KATNAL1 and the chromatin-associated gene HMGB1 are candidate genes for intellectual disability inherited in an autosomal dominant pattern. (PMID:24664804)
- KATNAL1 gene sequence variants are not associated with azoospermia. (PMID:24913027)
- Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility. (PMID:35752927)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | katnal1 | ENSDARG00000099156 |
| mus_musculus | Katnal1 | ENSMUSG00000041298 |
| rattus_norvegicus | Katnal1 | ENSRNOG00000047618 |
| drosophila_melanogaster | Fign | FBGN0031519 |
| drosophila_melanogaster | kat-60L1 | FBGN0037375 |
| drosophila_melanogaster | Kat60 | FBGN0040208 |
| caenorhabditis_elegans | mei-1 | WBGENE00003183 |
| caenorhabditis_elegans | WBGENE00017981 |
Paralogs (9): SPAST (ENSG00000021574), VPS4B (ENSG00000119541), FIGNL1 (ENSG00000132436), VPS4A (ENSG00000132612), ATAD1 (ENSG00000138138), KATNAL2 (ENSG00000167216), FIGN (ENSG00000182263), KATNA1 (ENSG00000186625), FIGNL2 (ENSG00000261308)
Protein
Protein identifiers
Katanin p60 ATPase-containing subunit A-like 1 — Q9BW62 (reviewed: Q9BW62)
Alternative names: p60 katanin-like 1
All UniProt accessions (3): Q9BW62, A2A3H2, Q5T558
UniProt curated annotations — full annotation on UniProt →
Function. Regulates microtubule dynamics in Sertoli cells, a process that is essential for spermiogenesis and male fertility. Severs microtubules in an ATP-dependent manner, promoting rapid reorganization of cellular microtubule arrays. Has microtubule-severing activity in vitro.
Subunit / interactions. Interacts with KATNB1 and KATNBL1.
Subcellular location. Cytoplasm. Cytoskeleton. Spindle pole. Spindle.
Tissue specificity. Expressed in testis, restricted to Sertoli cells (at protein level).
Similarity. Belongs to the AAA ATPase family. Katanin p60 subunit A1 subfamily. A-like 1 sub-subfamily.
RefSeq proteins (2): NP_001014402, NP_115492* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003593 | AAA+_ATPase | Domain |
| IPR003959 | ATPase_AAA_core | Domain |
| IPR003960 | ATPase_AAA_CS | Conserved_site |
| IPR015415 | Spast_Vps4_C | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR028594 | Katnal1_chordates | Family |
| IPR028596 | KATNA1 | Family |
| IPR041569 | AAA_lid_3 | Domain |
| IPR048611 | KATNA1_MIT | Domain |
| IPR048612 | KTNA1_AAA_dom | Domain |
| IPR050304 | MT-severing_AAA_ATPase | Family |
Pfam: PF00004, PF09336, PF17862, PF21126
Enzyme classification (BRENDA):
- EC 5.6.1.1 — microtubule-severing ATPase (BRENDA: 21 organisms, 29 substrates, 57 inhibitors, 16 Km, 12 kcat entries)
Substrate kinetics (BRENDA)
1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| ATP | 0.0003–2.94 | 16 |
UniProt features (34 total): helix 19, strand 6, compositionally biased region 3, modified residue 2, chain 1, region of interest 1, turn 1, binding site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6B5C | X-RAY DIFFRACTION | 2.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BW62-F1 | 76.81 | 0.34 |
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 (1): 248–255
Post-translational modifications (2): 1, 174
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 144 (showing top):
GOBP_CYTOPLASMIC_MICROTUBULE_ORGANIZATION, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, MODULE_255, MODULE_317, GOBP_MALE_GAMETE_GENERATION, GOCC_MICROTUBULE_ORGANIZING_CENTER, AACWWCAANK_UNKNOWN, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, GOCC_CENTROSOME, DOUGLAS_BMI1_TARGETS_DN, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, LEF1_Q6, RFX1_02, GOCC_SPINDLE, GOCC_MITOTIC_SPINDLE
GO Biological Process (4): spermatogenesis (GO:0007283), cytoplasmic microtubule organization (GO:0031122), microtubule severing (GO:0051013), microtubule cytoskeleton organization (GO:0000226)
GO Molecular Function (8): ATP binding (GO:0005524), microtubule binding (GO:0008017), microtubule severing ATPase activity (GO:0008568), ATP hydrolysis activity (GO:0016887), identical protein binding (GO:0042802), nucleotide binding (GO:0000166), protein binding (GO:0005515), isomerase activity (GO:0016853)
GO Cellular Component (11): spindle pole (GO:0000922), cytoplasm (GO:0005737), mitochondrion (GO:0005739), centrosome (GO:0005813), spindle (GO:0005819), cytosol (GO:0005829), microtubule (GO:0005874), katanin complex (GO:0008352), microtubule cytoskeleton (GO:0015630), mitotic spindle (GO:0072686), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| microtubule cytoskeleton organization | 3 |
| cellular anatomical structure | 3 |
| ATP-dependent activity | 2 |
| spindle | 2 |
| cytoplasm | 2 |
| microtubule organizing center | 2 |
| microtubule cytoskeleton | 2 |
| intracellular membraneless organelle | 2 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| supramolecular fiber organization | 1 |
| cytoskeleton organization | 1 |
| microtubule-based process | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| tubulin binding | 1 |
| polypeptide conformation or assembly isomerase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| microtubule destabilizing activity | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| protein binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| intracellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
| centriole | 1 |
| polymeric cytoskeletal fiber | 1 |
| microtubule associated complex | 1 |
| cytoskeleton | 1 |
Protein interactions and networks
STRING
1801 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KATNAL1 | KATNB1 | Q9BVA0 | 758 |
| KATNAL1 | KATNBL1 | Q9H079 | 577 |
| KATNAL1 | NAA35 | Q5VZE5 | 459 |
| KATNAL1 | RELA | Q04206 | 406 |
| KATNAL1 | KATNIP | O60303 | 399 |
| KATNAL1 | KIF18A | Q8NI77 | 389 |
| KATNAL1 | TEX26 | Q8N6G2 | 381 |
| KATNAL1 | USPL1 | Q5W0Q7 | 365 |
| KATNAL1 | SSH2 | Q76I76 | 365 |
| KATNAL1 | TUBGCP3 | Q96CW5 | 354 |
| KATNAL1 | TNS1 | Q9HBL0 | 353 |
| KATNAL1 | HTR2B | P41595 | 353 |
| KATNAL1 | HERC5 | Q9UII4 | 353 |
| KATNAL1 | LUZP1 | Q86V48 | 353 |
| KATNAL1 | ZNHIT2 | Q9UHR6 | 353 |
| KATNAL1 | ARHGAP32 | A7KAX9 | 353 |
| KATNAL1 | ENTHD1 | Q8IYW4 | 353 |
| KATNAL1 | KIF15 | Q9NS87 | 353 |
| KATNAL1 | PRDM10 | Q9NQV6 | 353 |
| KATNAL1 | CNTNAP2 | Q9UHC6 | 353 |
IntAct
124 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KATNAL1 | KATNBL1 | psi-mi:“MI:0915”(physical association) | 0.880 |
| KATNBL1 | KATNAL1 | psi-mi:“MI:0915”(physical association) | 0.880 |
| KATNAL1 | CEP57L1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KLC4 | KATNAL1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KATNAL1 | AIRIM | psi-mi:“MI:0915”(physical association) | 0.720 |
| CEP57L1 | KATNAL1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KATNAL1 | KLC4 | psi-mi:“MI:0915”(physical association) | 0.720 |
| AIRIM | KATNAL1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KATNAL1 | COX17 | psi-mi:“MI:0915”(physical association) | 0.670 |
| KATNAL1 | KATNAL1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| COX17 | KATNAL1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| PFDN1 | PFDN6 | psi-mi:“MI:0914”(association) | 0.640 |
| KATNAL1 | CEP57L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (50): KATNAL1 (Two-hybrid), KATNAL1 (Two-hybrid), KATNAL1 (Two-hybrid), KATNAL1 (Two-hybrid), KATNAL1 (Two-hybrid), KATNAL1 (Two-hybrid), KLC4 (Two-hybrid), CEP57L1 (Two-hybrid), KATNAL1 (Two-hybrid), KATNAL1 (Affinity Capture-MS), KATNAL1 (Synthetic Lethality), KATNAL1 (Two-hybrid), KATNAL1 (Two-hybrid), KATNAL1 (Two-hybrid), KATNAL1 (Two-hybrid)
ESM2 similar proteins: A0JMA9, A2VDN5, A8QFF6, A8XV40, A9RA82, B2RYN7, B3EX35, B3M301, B4QSF0, B4USW8, B5X3X5, B7NZ88, B7PXE3, F4IAE9, O14114, O15381, O16299, O59824, O75449, P34808, P54816, Q05AS3, Q0IIR9, Q1HGK7, Q3B8D5, Q4R407, Q5RDX4, Q5RII9, Q5U3S1, Q5XIK7, Q5ZK92, Q60QD1, Q6AZT2, Q6E0V2, Q6NW58, Q6P158, Q6PL18, Q719N1, Q8CDM1, Q8IYT4
Diamond homologs: A0JMA9, A2VDN5, A4IHT0, A8QFF6, A8XV40, A9RA82, B2RYN7, B3EX35, B3M301, B3P8A3, B4G437, B4HGG6, B4JII0, B4K799, B4M0H8, B4NBP4, B4PL32, B4QSF0, B4USW8, B5X3X5, B7NZ88, B7PXE3, D0FH76, D2VS83, F2Z6D2, F4JEX5, F6QV99, O05209, O16299, O28972, O43078, O61577, O75351, O75449, P25694, P34808, P39955, P40328, P46467, P52917
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
77 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 53 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2592 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:30208563:T:TA | donor_gain | 1.0000 |
| 13:30208575:A:AC | donor_gain | 1.0000 |
| 13:30208576:C:CC | donor_gain | 1.0000 |
| 13:30208576:CTT:C | donor_gain | 1.0000 |
| 13:30208578:T:TA | donor_gain | 1.0000 |
| 13:30208607:G:C | donor_gain | 1.0000 |
| 13:30208734:CATCC:C | acceptor_gain | 1.0000 |
| 13:30208736:TCC:T | acceptor_gain | 1.0000 |
| 13:30208737:CC:C | acceptor_gain | 1.0000 |
| 13:30208737:CCC:C | acceptor_gain | 1.0000 |
| 13:30208738:CC:C | acceptor_gain | 1.0000 |
| 13:30209162:C:CA | donor_gain | 1.0000 |
| 13:30227409:TACC:T | donor_loss | 1.0000 |
| 13:30227411:C:CT | donor_loss | 1.0000 |
| 13:30227544:CTC:C | acceptor_gain | 1.0000 |
| 13:30227547:C:CC | acceptor_gain | 1.0000 |
| 13:30227555:A:T | acceptor_gain | 1.0000 |
| 13:30231307:CACT:C | donor_loss | 1.0000 |
| 13:30231308:ACTC:A | donor_loss | 1.0000 |
| 13:30231310:TCAC:T | donor_loss | 1.0000 |
| 13:30231311:C:CG | donor_loss | 1.0000 |
| 13:30231312:A:AC | donor_gain | 1.0000 |
| 13:30231313:C:CC | donor_gain | 1.0000 |
| 13:30231313:CCAT:C | donor_gain | 1.0000 |
| 13:30231468:ACACC:A | acceptor_gain | 1.0000 |
| 13:30231469:CACC:C | acceptor_gain | 1.0000 |
| 13:30231469:CACCC:C | acceptor_gain | 1.0000 |
| 13:30231470:ACC:A | acceptor_gain | 1.0000 |
| 13:30231471:CC:C | acceptor_gain | 1.0000 |
| 13:30231471:CCC:C | acceptor_gain | 1.0000 |
AlphaMissense
3230 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:30227447:C:A | R371M | 1.000 |
| 13:30227447:C:G | R371T | 1.000 |
| 13:30227482:A:C | N359K | 1.000 |
| 13:30227482:A:T | N359K | 1.000 |
| 13:30230482:A:G | L333P | 1.000 |
| 13:30231414:G:T | A262D | 1.000 |
| 13:30231420:G:T | A260D | 1.000 |
| 13:30231421:C:G | A260P | 1.000 |
| 13:30231426:G:T | A258D | 1.000 |
| 13:30231441:C:T | G253D | 1.000 |
| 13:30231447:C:T | G251D | 1.000 |
| 13:30231448:C:G | G251R | 1.000 |
| 13:30231456:C:T | G248E | 1.000 |
| 13:30231457:C:G | G248R | 1.000 |
| 13:30231457:C:T | G248R | 1.000 |
| 13:30208714:T:A | R433S | 0.999 |
| 13:30208714:T:G | R433S | 0.999 |
| 13:30208715:C:A | R433I | 0.999 |
| 13:30208715:C:G | R433T | 0.999 |
| 13:30208733:G:T | A427D | 0.999 |
| 13:30208734:C:G | A427P | 0.999 |
| 13:30210318:G:C | C424W | 0.999 |
| 13:30210319:C:T | C424Y | 0.999 |
| 13:30210320:A:G | C424R | 0.999 |
| 13:30210335:C:G | D419H | 0.999 |
| 13:30210340:C:T | G417D | 0.999 |
| 13:30210343:G:A | S416F | 0.999 |
| 13:30210409:A:G | L394P | 0.999 |
| 13:30210421:A:G | L390P | 0.999 |
| 13:30210424:A:G | L389P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000004775 (13:30291555 T>A,C), RS1000048459 (13:30307105 C>G,T), RS1000068611 (13:30292060 C>T), RS1000101530 (13:30259123 A>G), RS1000123604 (13:30238841 A>C), RS1000144902 (13:30307252 G>A), RS1000148475 (13:30203698 T>C), RS1000176643 (13:30301490 A>G), RS1000226157 (13:30294495 T>C), RS1000289953 (13:30260080 CCTAACTGGGAGGTACCCCCCAGCAGG>C), RS1000307998 (13:30265911 C>CG), RS1000314931 (13:30260346 A>C,G), RS1000381371 (13:30266283 T>C,G), RS1000395723 (13:30285615 G>A,T), RS1000407452 (13:30241259 C>T)
Disease associations
OMIM: gene MIM:614764 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001343_1 | Fat distribution (HIV) | 3.000000e-06 |
| GCST001613_15 | Antineutrophil cytoplasmic antibody-associated vasculitis | 4.000000e-06 |
| GCST003983_32 | Male-pattern baldness | 2.000000e-09 |
| GCST004267_6 | Blood osmolality (transformed sodium) | 5.000000e-06 |
| GCST008114_32 | Type 2 diabetes | 2.000000e-07 |
| GCST010002_182 | Refractive error | 1.000000e-11 |
| GCST011771_1 | Rapid response to perioperative phenylephrine (change in mean arterial pressure) | 2.000000e-08 |
| GCST012490_501 | Femur bone mineral density x serum urate levels interaction | 3.000000e-08 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004341 | body fat distribution |
| EFO:0006943 | blood pressure change measurement |
| EFO:0004531 | urate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 2 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 2 |
| Tretinoin | decreases expression, increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| lead acetate | increases expression | 1 |
| testosterone undecanoate | increases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| chromium hexavalent ion | decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | decreases expression | 1 |
| Bortezomib | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Fulvestrant | increases methylation | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cisplatin | increases expression | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Drugs, Chinese Herbal | increases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Lipopolysaccharides | affects response to substance, increases expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| Naphthoquinones | increases expression | 1 |
| Quercetin | increases expression | 1 |
| Rotenone | decreases expression | 1 |
| Valproic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): androgenetic alopecia, anti-neutrophil antibody associated vasculitis