ATMIN
gene geneOn this page
Also known as ASCIZKIAA0431ZNF822
Summary
ATMIN (ATM interactor, HGNC:29034) is a protein-coding gene on chromosome 16q23.2, encoding ATM interactor (O43313). Transcription factor. It is a selective cancer dependency (DepMap: 15.5% of cell lines).
Enables dynein complex binding activity. Involved in positive regulation of DNA-templated transcription. Located in nuclear body.
Source: NCBI Gene 23300 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 178 total — 1 pathogenic, 1 likely-pathogenic
- Cancer dependency (DepMap): dependent in 15.5% of screened cell lines
- MANE Select transcript:
NM_015251
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29034 |
| Approved symbol | ATMIN |
| Name | ATM interactor |
| Location | 16q23.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ASCIZ, KIAA0431, ZNF822 |
| Ensembl gene | ENSG00000166454 |
| Ensembl biotype | protein_coding |
| OMIM | 614693 |
| Entrez | 23300 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 5 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000299575, ENST00000539819, ENST00000562969, ENST00000564241, ENST00000565237, ENST00000566488, ENST00000946484
RefSeq mRNA: 2 — MANE Select: NM_015251
NM_001300728, NM_015251
CCDS: CCDS32494, CCDS73917
Canonical transcript exons
ENST00000299575 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001298724 | 81035842 | 81036206 |
| ENSE00002588712 | 81043161 | 81047350 |
| ENSE00003584890 | 81042281 | 81042480 |
| ENSE00003590968 | 81041356 | 81041481 |
Expression profiles
Bgee: expression breadth ubiquitous, 299 present calls, max score 97.32.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.3851 / max 178.4977, expressed in 1795 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 155135 | 14.3750 | 1795 |
| 155136 | 0.0101 | 3 |
Top tissues by expression
301 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 97.32 | gold quality |
| male germ cell | CL:0000015 | 96.59 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.34 | gold quality |
| amniotic fluid | UBERON:0000173 | 95.88 | gold quality |
| gingival epithelium | UBERON:0001949 | 94.54 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 94.43 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 94.11 | gold quality |
| cortical plate | UBERON:0005343 | 93.99 | gold quality |
| eye | UBERON:0000970 | 93.89 | gold quality |
| gingiva | UBERON:0001828 | 93.72 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 93.55 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 93.53 | gold quality |
| pons | UBERON:0000988 | 93.52 | gold quality |
| right testis | UBERON:0004534 | 92.91 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 92.71 | gold quality |
| left testis | UBERON:0004533 | 92.66 | gold quality |
| primary visual cortex | UBERON:0002436 | 92.65 | gold quality |
| ganglionic eminence | UBERON:0004023 | 92.39 | gold quality |
| testis | UBERON:0000473 | 92.31 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 92.29 | gold quality |
| retina | UBERON:0000966 | 92.27 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.23 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 91.94 | gold quality |
| occipital lobe | UBERON:0002021 | 91.82 | gold quality |
| medial globus pallidus | UBERON:0002477 | 91.74 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 91.67 | gold quality |
| placenta | UBERON:0001987 | 91.55 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 91.41 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 91.34 | gold quality |
| globus pallidus | UBERON:0001875 | 91.26 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.19 |
| E-MTAB-7303 | no | 319.81 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
114 targeting ATMIN, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| 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-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 15.5% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 21)
- ASCIZ acts as a lesion-specific focus scaffold in a Rad51-dependent pathway that resolves cytotoxic repair intermediates, most likely single-stranded DNA gaps, resulting from MLH1-dependent processing of base lesions. (PMID:15933716)
- ATM/ATR-Substrate Chk2-Interacting Zn2+-finger protein (ASCIZ) required for repair of abasic sites after methylating and oxidative DNA damage but not double-strand breaks. Forms DNA damage-induced foci with RAD51 and ssDNA. ASCIZ foci depend on MLH1. (PMID:15933716)
- ATMIN defines a novel NBS1-independent pathway of ATM signalling. (PMID:17525732)
- These data suggest that ASCIZ may affect the choice between competing base repair pathways in a manner that reduces the amount of substrates available for Ig gene conversion. (PMID:18433721)
- ASCIZ (ATMIN) is structurally related to the yeast ATM/ATR substrate Mdt1 (Pin4/Ybl051c); both proteins contain SQ/TQ cluster domains and interact with N-terminal FHA domains of CHK2/Rad53 kinases. (PMID:18728389)
- Absence of Asciz (Atmin) leads to increased oxidative and methylating DNA base damage sensitivity in primary fibroblasts (PMID:20975950)
- Asciz (Atmin) deletion or knock-down does not affect ATM levels and activation in mouse, chicken, or human cells (PMID:20975950)
- these results imply a potential cellular interference between DYNLL1 and ATMIN functions. (PMID:21971545)
- The ASCIZ-DYNLL1 feedback loop represents a novel mechanism for auto-regulation of gene expression, where the gene product directly inhibits the transcriptional activator while bound at its own promoter. (PMID:22167198)
- ATMIN is required for cell cycle progression and chromosome segregation following replication stress.ATMIN is required for the ATM-mediated signaling and recruitment of 53BP1 to DNA damage sites upon replication stress. (PMID:25262557)
- WRNIP1 connects PCNA monoubiquitination with ATMIN/ATM to activate ATM signalling in response to replication stress and contribute to the maintenance of genomic stability. (PMID:26549024)
- Repression of ATMIN in hypoxia is mediated by both p53 and HIF-1alpha in an oxygen dependent manner. (PMID:26875667)
- Studies suggest that ATM INteractor (ATMIN) could be an important biomarker in disease prognosis and treatment that might lighten the burden of chronic kidney disease and also affect on its progression. (PMID:27913685)
- The study results improve our understanding of the ATMIN-KRas axis leading to HNSCC migration or invasion and metastasis and facilitates the identification of possible therapy targets of downstream genes for designing effective therapeutic strategies in personalized medicine (PMID:28012797)
- ASCIZ/ATMIN is dispensable for ATM activation, and contradict the previously reported dependence of ATM on ASCIZ/ATMIN. (PMID:28648892)
- This work indicates a novel role for non-canonical Wnt/planar cell polarity signalling in Autosomal Recessive Polycystic Kidney Disease and suggests ATMIN as a modulator of PKHD1. (PMID:30414501)
- PPARgamma promotes ATM signaling and is essential for UBR5 activity targeting ATM interactor (ATMIN). (PMID:30699358)
- ATMIN is located close to FRA16D and is commonly lost in lung adenocarcinoma (LUAD)and was associated with reduced patient survival. ATMIN is a tumor suppressor in LUAD; fragility at chr16q23 correlates with loss of ATMIN in human LUAD. (PMID:31481498)
- ATMIN Suppresses Metastasis by Altering the WNT-Signaling Pathway via PARP1 in MSI-High Colorectal Cancer. (PMID:34148137)
- MicroRNA-361-5p slows down gliomas development through regulating UBR5 to elevate ATMIN protein expression. (PMID:34321465)
- Transcription factor ATMIN facilitates chemoresistance in nasopharyngeal carcinoma. (PMID:38321024)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | atmin | ENSDARG00000068601 |
| mus_musculus | Atmin | ENSMUSG00000047388 |
| rattus_norvegicus | AABR07043951.1 | ENSRNOG00000011422 |
Paralogs (3): RIOK2 (ENSG00000058729), RIOK3 (ENSG00000101782), RIOK1 (ENSG00000124784)
Protein
Protein identifiers
ATM interactor — O43313 (reviewed: O43313)
Alternative names: ATM/ATR-substrate CHK2-interacting zinc finger protein, Zinc finger protein 822
All UniProt accessions (2): O43313, J3QRX7
UniProt curated annotations — full annotation on UniProt →
Function. Transcription factor. Plays a crucial role in cell survival and RAD51 foci formation in response to methylating DNA damage. Involved in regulating the activity of ATM in the absence of DNA damage. May play a role in stabilizing ATM. Binds to the DYNLL1 promoter and activates its transcription.
Subunit / interactions. Interacts via its C-terminus with ATM. Interacts with DYNLL1; this interaction inhibits ATMIN transcriptional activity and hence may play a role in a feedback loop whereby DYNLL1 inhibits transactivation of its own promoter by ATMIN.
Subcellular location. Nucleus.
Tissue specificity. Ubiquitously expressed in normal tissues and cancer cell lines with highest levels in placenta and skeletal muscle.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O43313-1 | 1 | yes |
| O43313-2 | 2 |
RefSeq proteins (2): NP_001287657, NP_056066* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR055303 | ATMIN | Family |
| IPR056380 | Znf_C2H2_ASCIZ_4th | Domain |
| IPR056381 | Znf_C2HC_ASCIZ_3rd | Domain |
| IPR056545 | C2H2_ASCIZ_1st_2nd | Domain |
Pfam: PF24757, PF24759, PF24761
UniProt features (23 total): sequence conflict 8, region of interest 5, compositionally biased region 4, zinc finger region 2, sequence variant 2, chain 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O43313-F1 | 47.67 | 0.01 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 162 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GCM_MAP4K4, TATTATA_MIR374, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, ONKEN_UVEAL_MELANOMA_UP, GOBP_CILIUM_ORGANIZATION, GOBP_DNA_DAMAGE_RESPONSE, GOBP_ORGANELLE_ASSEMBLY, GOBP_REGULATION_OF_CILIUM_ASSEMBLY, GOBP_MOTILE_CILIUM_ASSEMBLY, GOBP_CELL_PROJECTION_ORGANIZATION
GO Biological Process (7): regulation of transcription by RNA polymerase II (GO:0006357), DNA damage response (GO:0006974), positive regulation of gene expression (GO:0010628), motile cilium assembly (GO:0044458), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of non-motile cilium assembly (GO:1902857)
GO Molecular Function (7): transcription cis-regulatory region binding (GO:0000976), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), zinc ion binding (GO:0008270), dynein complex binding (GO:0070840), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (2): nucleus (GO:0005634), nuclear body (GO:0016604)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 2 |
| transcription by RNA polymerase II | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| cellular response to stress | 1 |
| gene expression | 1 |
| regulation of gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| cilium assembly | 1 |
| DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| positive regulation of DNA-templated transcription | 1 |
| positive regulation of cilium assembly | 1 |
| regulation of non-motile cilium assembly | 1 |
| non-motile cilium assembly | 1 |
| transcription regulatory region nucleic acid binding | 1 |
| sequence-specific double-stranded DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription activator activity | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
| transition metal ion binding | 1 |
| protein-containing complex binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nucleoplasm | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
936 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ATMIN | ATM | Q13315 | 961 |
| ATMIN | CHEK2 | O96017 | 842 |
| ATMIN | DYNLL1 | P63167 | 793 |
| ATMIN | UBR5 | O95071 | 707 |
| ATMIN | WRNIP1 | Q96S55 | 544 |
| ATMIN | NBN | O60934 | 479 |
| ATMIN | RAD18 | Q9NS91 | 434 |
| ATMIN | TP53BP1 | Q12888 | 434 |
| ATMIN | NKX3-1 | Q99801 | 424 |
| ATMIN | UBR3 | Q6ZT12 | 413 |
| ATMIN | FAN1 | Q9Y2M0 | 394 |
| ATMIN | MDC1 | Q14676 | 383 |
| ATMIN | WWC1 | Q8IX03 | 379 |
| ATMIN | PRKDC | P78527 | 378 |
| ATMIN | KAT7 | O95251 | 371 |
| ATMIN | MRNIP | Q6NTE8 | 371 |
IntAct
14 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DYNLL1 | BLTP3B | psi-mi:“MI:0914”(association) | 0.730 |
| DYNLL2 | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| ATM | ATMIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| ATMIN | ATM | psi-mi:“MI:0915”(physical association) | 0.560 |
| ATM | ATMIN | psi-mi:“MI:0403”(colocalization) | 0.560 |
| BRAP | ATMIN | psi-mi:“MI:0915”(physical association) | 0.370 |
| ATMIN | OAS2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (23): ATMIN (Two-hybrid), WRNIP1 (Affinity Capture-Western), WRNIP1 (Affinity Capture-MS), CAPN13 (Affinity Capture-MS), SPECC1L (Affinity Capture-MS), ATMIN (Affinity Capture-RNA), ATMIN (Affinity Capture-Western), ATMIN (Affinity Capture-Western), ATMIN (Positive Genetic), OAS2 (Affinity Capture-MS), ATMIN (Affinity Capture-MS), ATMIN (Affinity Capture-MS), CAPN13 (Affinity Capture-MS), SPECC1L (Affinity Capture-MS), ATMIN (Affinity Capture-MS)
ESM2 similar proteins: A0A5K7RLP0, A1YEX3, A5GFT6, B8A5Y1, E1BKK0, F1LMN3, O35914, O43313, O88850, P24278, P86174, P97303, Q01954, Q12766, Q14B70, Q17R98, Q3ULM6, Q498S6, Q505G8, Q5RC05, Q5RDQ6, Q5W0Q7, Q68FE9, Q69ZB8, Q6A098, Q6P9S1, Q6ZPY5, Q6ZU67, Q6ZVT6, Q7Z4V0, Q8BFU3, Q8BHZ4, Q8CCH7, Q8IW35, Q8ND24, Q8TCN5, Q8VHI4, Q8VIG2, Q8WW38, Q91YE5
Diamond homologs: B1B534, B8BGV5, F4IPE3, F4JYZ8, O22759, O43313, Q0WT24, Q2QX40, Q6P9S1, Q700D2, Q8GYC1, Q8H1F5, Q8RWX7, Q8VWG3, Q8W030, Q8W031, Q943I6, Q944L3, Q9C8N5, Q9C9X7, Q9FFH3, Q9FRH4, Q9FX68, Q9LRW7, Q9LVQ7, Q9SCQ6, Q9SGD1, Q9SVY1, Q9ZUL3, Q9ZWA6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
178 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 1 |
| Uncertain significance | 154 |
| Likely benign | 10 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 584186 | NC_000016.9:g.(?80623263)(81411221_?)del | Pathogenic |
| 815850 | GRCh37/hg19 16q23.2-23.3(chr16:80476611-82397606)x1 | Likely pathogenic |
SpliceAI
496 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:81036206:GGTG:G | donor_loss | 1.0000 |
| 16:81036207:GTG:G | donor_loss | 1.0000 |
| 16:81041350:TTGCA:T | acceptor_loss | 1.0000 |
| 16:81041351:TGCA:T | acceptor_loss | 1.0000 |
| 16:81041352:GCAG:G | acceptor_loss | 1.0000 |
| 16:81041353:CAG:C | acceptor_loss | 1.0000 |
| 16:81041441:GCCC:G | donor_gain | 1.0000 |
| 16:81036208:T:G | donor_loss | 0.9900 |
| 16:81041354:A:AG | acceptor_gain | 0.9900 |
| 16:81041354:AG:A | acceptor_gain | 0.9900 |
| 16:81041354:AGGAT:A | acceptor_gain | 0.9900 |
| 16:81041355:G:GG | acceptor_gain | 0.9900 |
| 16:81041355:GG:G | acceptor_gain | 0.9900 |
| 16:81041355:GGAT:G | acceptor_gain | 0.9900 |
| 16:81041355:GGATG:G | acceptor_gain | 0.9900 |
| 16:81041477:AACAG:A | donor_loss | 0.9900 |
| 16:81041478:ACAGG:A | donor_loss | 0.9900 |
| 16:81041479:CAG:C | donor_loss | 0.9900 |
| 16:81041480:AGGTA:A | donor_loss | 0.9900 |
| 16:81041481:GG:G | donor_loss | 0.9900 |
| 16:81041482:GTACT:G | donor_loss | 0.9900 |
| 16:81041483:T:A | donor_loss | 0.9900 |
| 16:81043159:AG:A | acceptor_gain | 0.9900 |
| 16:81043160:GG:G | acceptor_gain | 0.9900 |
| 16:81042523:G:T | donor_gain | 0.9800 |
| 16:81043155:TTTCA:T | acceptor_loss | 0.9800 |
| 16:81043156:TTCA:T | acceptor_loss | 0.9800 |
| 16:81043157:TCAG:T | acceptor_loss | 0.9800 |
| 16:81043158:CA:C | acceptor_loss | 0.9800 |
| 16:81043159:A:AG | acceptor_gain | 0.9800 |
AlphaMissense
5413 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:81036126:T:A | C86S | 1.000 |
| 16:81036126:T:C | C86R | 1.000 |
| 16:81036127:G:A | C86Y | 1.000 |
| 16:81036127:G:C | C86S | 1.000 |
| 16:81036128:C:G | C86W | 1.000 |
| 16:81036180:C:G | H104D | 1.000 |
| 16:81036182:C:A | H104Q | 1.000 |
| 16:81036182:C:G | H104Q | 1.000 |
| 16:81042283:C:A | H155Q | 1.000 |
| 16:81042283:C:G | H155Q | 1.000 |
| 16:81042317:T:C | C167R | 1.000 |
| 16:81042326:T:A | C170S | 1.000 |
| 16:81042326:T:C | C170R | 1.000 |
| 16:81042327:G:C | C170S | 1.000 |
| 16:81042357:T:C | L180P | 1.000 |
| 16:81036127:G:T | C86F | 0.999 |
| 16:81036154:T:A | L95Q | 0.999 |
| 16:81036172:T:A | L101H | 0.999 |
| 16:81036172:T:C | L101P | 0.999 |
| 16:81036178:T:C | M103T | 0.999 |
| 16:81036180:C:A | H104N | 0.999 |
| 16:81036181:A:G | H104R | 0.999 |
| 16:81036184:T:C | L105P | 0.999 |
| 16:81036189:A:G | K107E | 0.999 |
| 16:81036191:G:C | K107N | 0.999 |
| 16:81036191:G:T | K107N | 0.999 |
| 16:81036195:C:G | H109D | 0.999 |
| 16:81036197:C:A | H109Q | 0.999 |
| 16:81036197:C:G | H109Q | 0.999 |
| 16:81041410:T:G | Y131D | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000208492 (16:81035723 C>T), RS1000710888 (16:81047836 A>G), RS1000878749 (16:81039857 G>T), RS1000928831 (16:81037271 T>A,C,G), RS1001231457 (16:81035569 C>G), RS1001304706 (16:81040642 G>A), RS1001470193 (16:81036369 C>T), RS1001714675 (16:81047241 T>C), RS1001766852 (16:81047482 A>G), RS1002223275 (16:81037331 C>T), RS1002237196 (16:81036930 G>A), RS1002439364 (16:81042013 C>A,T), RS1002477674 (16:81037151 C>A,T), RS1002711242 (16:81041768 G>A,C,T), RS1002856367 (16:81034512 CA>C,CAA)
Disease associations
OMIM: gene MIM:614693 | disease phenotypes: MIM:256850
GenCC curated gene-disease
Mondo (1): giant axonal neuropathy 1 (MONDO:0009749)
Orphanet (1): Giant axonal neuropathy (Orphanet:643)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004602_281 | Mean corpuscular volume | 1.000000e-10 |
| GCST005958_20 | Waist-to-hip ratio adjusted for BMI (age >50) | 4.000000e-06 |
| GCST005962_30 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 1.000000e-06 |
| GCST90002390_95 | Mean corpuscular hemoglobin | 1.000000e-11 |
| GCST90002392_511 | Mean corpuscular volume | 7.000000e-15 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0004527 | mean corpuscular hemoglobin |
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 |
|---|---|---|
| Valproic Acid | affects expression, decreases methylation, increases expression | 3 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| deguelin | decreases expression | 1 |
| fenpyroximate | decreases expression | 1 |
| 4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide | decreases expression | 1 |
| pyrimidifen | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Antimycin A | decreases expression | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Cadmium | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Ozone | increases abundance, affects expression | 1 |
| Rotenone | decreases expression | 1 |
| Selenium | increases expression, decreases expression, affects cotreatment | 1 |
| Dihydrotestosterone | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Vitamin E | affects cotreatment, increases expression, decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
1 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03333200 | Not specified | RECRUITING | Longitudinal Study of Neurodegenerative Disorders |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): giant axonal neuropathy 1