MAB21L1
geneOn this page
Also known as CAGR1
Summary
MAB21L1 (mab-21 like 1, HGNC:6757) is a protein-coding gene on chromosome 13q13.3, encoding Putative nucleotidyltransferase MAB21L1 (Q13394). Putative nucleotidyltransferase required for several aspects of embryonic development including normal development of the eye.
This gene is similar to the MAB-21 cell fate-determining gene found in C. elegans. It may be involved in eye and cerebellum development, and it has been proposed that expansion of a trinucleotide repeat region in the 5’ UTR may play a role in a variety of psychiatric disorders.
Source: NCBI Gene 4081 — RefSeq curated summary.
At a glance
- Gene–disease (curated): cerebellar, ocular, craniofacial, and genital syndrome (Strong, ClinGen)
- Clinical variants (ClinVar): 52 total — 8 pathogenic, 4 likely-pathogenic
- Phenotypes (HPO): 64
- MANE Select transcript:
NM_005584
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6757 |
| Approved symbol | MAB21L1 |
| Name | mab-21 like 1 |
| Location | 13q13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CAGR1 |
| Ensembl gene | ENSG00000180660 |
| Ensembl biotype | protein_coding |
| OMIM | 601280 |
| Entrez | 4081 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
ENST00000379919, ENST00000707125, ENST00000951518
RefSeq mRNA: 1 — MANE Select: NM_005584
NM_005584
CCDS: CCDS9353
Canonical transcript exons
ENST00000379919 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003998268 | 35473789 | 35476689 |
Expression profiles
Bgee: expression breadth ubiquitous, 165 present calls, max score 96.58.
FANTOM5 (CAGE): breadth broad, TPM avg 3.4174 / max 613.0897, expressed in 537 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 136749 | 3.1132 | 491 |
| 136746 | 0.2865 | 135 |
| 136747 | 0.0177 | 7 |
Top tissues by expression
275 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pigmented layer of retina | UBERON:0001782 | 96.58 | gold quality |
| cerebellar vermis | UBERON:0004720 | 93.82 | gold quality |
| paraflocculus | UBERON:0005351 | 91.89 | gold quality |
| cerebellum | UBERON:0002037 | 89.10 | gold quality |
| cerebellar cortex | UBERON:0002129 | 88.63 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 88.55 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 87.15 | gold quality |
| urethra | UBERON:0000057 | 80.56 | gold quality |
| secondary oocyte | CL:0000655 | 80.24 | gold quality |
| calcaneal tendon | UBERON:0003701 | 78.09 | gold quality |
| nipple | UBERON:0002030 | 76.74 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 74.63 | gold quality |
| penis | UBERON:0000989 | 74.55 | gold quality |
| mammary gland | UBERON:0001911 | 74.07 | gold quality |
| muscle of leg | UBERON:0001383 | 72.16 | gold quality |
| popliteal artery | UBERON:0002250 | 71.86 | gold quality |
| tibial artery | UBERON:0007610 | 71.84 | gold quality |
| tibial nerve | UBERON:0001323 | 71.65 | gold quality |
| gastrocnemius | UBERON:0001388 | 71.48 | gold quality |
| mammalian vulva | UBERON:0000997 | 69.87 | gold quality |
| muscle organ | UBERON:0001630 | 69.09 | gold quality |
| pons | UBERON:0000988 | 68.85 | gold quality |
| mammary duct | UBERON:0001765 | 68.59 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 67.63 | gold quality |
| oocyte | CL:0000023 | 67.62 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 67.30 | gold quality |
| aorta | UBERON:0000947 | 66.47 | gold quality |
| minor salivary gland | UBERON:0001830 | 65.69 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 65.50 | gold quality |
| vastus lateralis | UBERON:0001379 | 64.80 | silver quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-5 | yes | 828.40 |
| E-HCAD-10 | yes | 485.83 |
| E-GEOD-75140 | yes | 287.96 |
| E-ANND-3 | yes | 3.10 |
| E-MTAB-6108 | no | 284.75 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): DLX5, ELF4, PAX6
miRNA regulators (miRDB)
124 targeting MAB21L1, 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-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
Literature-anchored findings (GeneRIF, showing 10)
- MEF is involved in PTH suppression of osteoblasts through activating the MKK4/JNK1 pathway and subsequently up-regulating Mab21l1 expression. (PMID:21465527)
- We hypothesize that MAB21L1 haploinsufficiency cause a previously undescribed syndrome with scrotal agenesis, ophthalmological anomalies, facial dysmorphism and gross psychomotor delay as remarkable hallmarks. (PMID:27103078)
- offer a structure-based explanation for the effects of MAB21L2 mutations in patients with eye malformations (PMID:27271801)
- mab21 gene family members, mab21l1 and mab21l2, play important roles in regulating eye development. [review] (PMID:27558071)
- Mab21l1-/- osteoblasts also expressed higher levels of adipocyte genes and interferon-regulated genes at early stages of osteogenesis (PMID:29156428)
- This report defines an ultrarare but clinically recognisable Cerebello-Oculo-Facio-Genital syndrome associated with recessive MAB21L1 variants. Additionally, our findings further support the critical role of MAB21L1 in cerebellum, lens, genitalia and as craniofacial morphogenesis. (PMID:30487245)
- Identification of missense MAB21L1 variants in microphthalmia and aniridia. (PMID:33973683)
- Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia. (PMID:36413568)
- Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects. (PMID:36446583)
- Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome. (PMID:36892533)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mab21l1 | ENSDARG00000102047 |
| mus_musculus | Mab21l1 | ENSMUSG00000056947 |
| rattus_norvegicus | Mab21l1 | ENSRNOG00000032941 |
| drosophila_melanogaster | CG4766 | FBGN0027546 |
| drosophila_melanogaster | mab-21 | FBGN0029003 |
| caenorhabditis_elegans | WBGENE00003112 |
Paralogs (9): ITPRIP (ENSG00000148841), CGAS (ENSG00000164430), MAB21L4 (ENSG00000172478), MAB21L3 (ENSG00000173212), MB21D2 (ENSG00000180611), TMEM102 (ENSG00000181284), MAB21L2 (ENSG00000181541), ITPRIPL1 (ENSG00000198885), ITPRIPL2 (ENSG00000205730)
Protein
Protein identifiers
Putative nucleotidyltransferase MAB21L1 — Q13394 (reviewed: Q13394)
Alternative names: Protein mab-21-like 1
All UniProt accessions (2): F1T0A2, Q13394
UniProt curated annotations — full annotation on UniProt →
Function. Putative nucleotidyltransferase required for several aspects of embryonic development including normal development of the eye. It is unclear whether it displays nucleotidyltransferase activity in vivo. Binds single-stranded RNA (ssRNA).
Subunit / interactions. Monomer. Homodecamer; composed of 2 back to back homopentamers. The protein may exist as monomer in solution and oiligomerizes upon ligand binding.
Subcellular location. Nucleus.
Tissue specificity. Expressed in brain, cerebellum and skeletal muscle.
Disease relevance. Cerebellar, ocular, craniofacial, and genital syndrome (COFG) [MIM:618479] An autosomal recessive syndrome characterized by moderate to severe developmental delay, intellectual disability, cerebellar hypoplasia with ataxia, variable microcephaly, ophthalmological anomalies, facial dysmorphism, absent or underdeveloped nipples, underdeveloped labioscrotal folds and scrotal agenesis. The disease is caused by variants affecting the gene represented in this entry.
Domain organisation. While it shares structure similarities with CGAS, it also features a number of differences. The crystal structure is in inactive conformation and the enzyme would require a conformational change to be active. The nucleotidyltransferase activity is therefore unclear.
Polymorphism. A CAG trinucleotide repeat occurs in the 5’-UTR of this gene. This repeat has been found to be highly polymorphic, although expanded alleles have not yet been definitely linked with any phenotypic abnormality.
Similarity. Belongs to the mab-21 family.
RefSeq proteins (1): NP_005575* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR024810 | MAB21L/cGLR | Family |
| IPR046903 | Mab-21-like_nuc_Trfase | Domain |
| IPR046906 | Mab-21_HhH/H2TH-like | Domain |
Pfam: PF03281, PF20266
UniProt features (40 total): helix 14, strand 10, binding site 6, turn 3, sequence variant 3, mutagenesis site 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5EOM | X-RAY DIFFRACTION | 2.55 |
| 5EOG | X-RAY DIFFRACTION | 3.05 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13394-F1 | 94.18 | 0.87 |
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 (6): 23–24; 63–66; 73; 75; 248; 252–255
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 51 | decreased protein stability. |
| 247 | decreased protein stability. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 315 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, BENPORATH_ES_WITH_H3K27ME3, TGCACTT_MIR519C_MIR519B_MIR519A, AREB6_03, chr13q13, NKX62_Q2, IRF1_Q6, ACATTCC_MIR1_MIR206, AACTTT_UNKNOWN, GOBP_SENSORY_ORGAN_DEVELOPMENT, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, CONCANNON_APOPTOSIS_BY_EPOXOMICIN_DN, PITX2_Q2, TGGAAA_NFAT_Q4_01, TAATTA_CHX10_01
GO Biological Process (5): eye development (GO:0001654), cell population proliferation (GO:0008283), positive regulation of cell population proliferation (GO:0008284), anatomical structure morphogenesis (GO:0009653), camera-type eye development (GO:0043010)
GO Molecular Function (7): ATP binding (GO:0005524), GTP binding (GO:0005525), nucleotidyltransferase activity (GO:0016779), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), protein binding (GO:0005515), transferase activity (GO:0016740)
GO Cellular Component (1): nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| purine ribonucleoside triphosphate binding | 2 |
| sensory organ development | 1 |
| visual system development | 1 |
| cellular process | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| positive regulation of cellular process | 1 |
| developmental process | 1 |
| anatomical structure development | 1 |
| eye development | 1 |
| adenyl ribonucleotide binding | 1 |
| guanyl ribonucleotide binding | 1 |
| transferase activity, transferring phosphorus-containing groups | 1 |
| cation binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
864 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MAB21L1 | NBEA | Q8NFP9 | 898 |
| MAB21L1 | DCLK1 | O15075 | 764 |
| MAB21L1 | SMAD9 | O15198 | 662 |
| MAB21L1 | HTR2A | P28223 | 573 |
| MAB21L1 | FOXE3 | Q13461 | 552 |
| MAB21L1 | CCDC169 | A6NNP5 | 471 |
| MAB21L1 | SIX3 | O95343 | 459 |
| MAB21L1 | TGFB1 | P01137 | 445 |
| MAB21L1 | CDX1 | P47902 | 423 |
| MAB21L1 | PAX6 | P26367 | 418 |
| MAB21L1 | S100A16 | Q96FQ6 | 397 |
| MAB21L1 | RBM39 | Q14498 | 389 |
| MAB21L1 | AMOT | Q4VCS5 | 389 |
| MAB21L1 | PITX3 | O75364 | 382 |
| MAB21L1 | BFSP1 | Q12934 | 381 |
IntAct
13 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MAB21L1 | PBX2 | psi-mi:“MI:0915”(physical association) | 0.620 |
| SIAH1 | MAB21L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAB21L1 | SIAH1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAB21L1 | MEIS1 | psi-mi:“MI:0914”(association) | 0.530 |
| FAM222A | MEIS1 | psi-mi:“MI:0914”(association) | 0.530 |
| TSHZ3 | MAB21L1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| LMX1B | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (31): SIAH1 (Two-hybrid), MAB21L1 (Affinity Capture-MS), UBAC1 (Affinity Capture-MS), EDRF1 (Affinity Capture-MS), MEIS1 (Affinity Capture-MS), MEIS2 (Affinity Capture-MS), AMY1C (Affinity Capture-MS), PBX1 (Affinity Capture-MS), PBX2 (Affinity Capture-MS), PBX3 (Affinity Capture-MS), MEIS2 (Affinity Capture-MS), MEIS1 (Affinity Capture-MS), PBX2 (Affinity Capture-MS), PBX3 (Affinity Capture-MS), MAB21L1 (Affinity Capture-MS)
ESM2 similar proteins: A0A2B4RP11, A0A3M6TIF0, A0A482WD11, A0A6J1SUS3, A0A8B6XWW9, A0A913XCT1, A1ZA55, A4FV14, A4IIW0, A7SFB5, A8DYP7, A8E4S7, B3NQ14, B4QGZ2, D6WI29, D7Y2H2, O70299, P0DV11, P0DV12, P0DX69, P0DX77, P0DXB4, P0DXB5, P0DXB6, P0DXB7, P0DXB8, P0DXC0, Q0IES7, Q0IES8, Q0V9X7, Q13394, Q20054, Q29H55, Q29H56, Q5BKD0, Q5MYT9, Q5TW90, Q60856, Q6DCQ5, Q6GQD9
Diamond homologs: A4FV14, A4IIW0, O70299, Q0IES7, Q0IES8, Q0V9X7, Q13394, Q20054, Q29H55, Q29H56, Q5TW90, Q6DCQ5, Q6GQD9, Q6NYB4, Q7QHX4, Q8AY65, Q8BPP1, Q8UUZ1, Q9GQ38, Q9I9K2, Q9U3W6, Q9Y106, Q9Y586, A0A3M6TIF0, A2ASA8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
52 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 8 |
| Likely pathogenic | 4 |
| Uncertain significance | 34 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (12)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2175962 | NM_005584.5(MAB21L1):c.152G>A (p.Arg51Gln) | Pathogenic |
| 2685461 | GRCh37/hg19 13q13.3(chr13:35778509-36259617)x1 | Pathogenic |
| 4536806 | NC_000013.10:g.(35517252_35615069)_(36180716_36202217)del | Pathogenic |
| 634926 | NM_005584.5(MAB21L1):c.735dup (p.Cys246fs) | Pathogenic |
| 634927 | NM_005584.5(MAB21L1):c.840C>G (p.Tyr280Ter) | Pathogenic |
| 634928 | NM_005584.5(MAB21L1):c.859del (p.Arg287fs) | Pathogenic |
| 634929 | NM_005584.5(MAB21L1):c.841del (p.Glu281fs) | Pathogenic |
| 634930 | NM_005584.5(MAB21L1):c.698A>C (p.Gln233Pro) | Pathogenic |
| 1341245 | GRCh37/hg19 13q13.3(chr13:35951031-36115573)x1 | Likely pathogenic |
| 2685462 | GRCh37/hg19 13q13.3(chr13:36035608-36058874)x1 | Likely pathogenic |
| 4814017 | NM_005584.5(MAB21L1):c.371C>T (p.Ser124Leu) | Likely pathogenic |
| 666336 | NM_005584.5(MAB21L1):c.737dup (p.Cys246fs) | Likely pathogenic |
SpliceAI
210 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:35476909:G:C | donor_gain | 0.9700 |
| 13:35476917:A:AC | donor_gain | 0.9700 |
| 13:35477103:A:C | donor_gain | 0.9700 |
| 13:35477112:AAT:A | donor_gain | 0.9700 |
| 13:35477114:T:TA | donor_gain | 0.9300 |
| 13:35477078:A:AC | donor_gain | 0.9200 |
| 13:35477079:C:CC | donor_gain | 0.9200 |
| 13:35477082:G:A | donor_gain | 0.9100 |
| 13:35477106:T:TA | donor_gain | 0.9100 |
| 13:35475030:A:AG | donor_gain | 0.9000 |
| 13:35475436:C:CA | acceptor_gain | 0.8300 |
| 13:35476922:T:C | donor_gain | 0.8300 |
| 13:35477077:A:T | donor_gain | 0.8300 |
| 13:35477104:CGT:C | donor_gain | 0.8200 |
| 13:35477080:T:C | donor_gain | 0.8100 |
| 13:35476920:A:AC | donor_gain | 0.7900 |
| 13:35476921:C:CC | donor_gain | 0.7900 |
| 13:35475031:T:G | donor_gain | 0.6600 |
| 13:35475025:G:A | donor_gain | 0.6500 |
| 13:35475415:G:GA | acceptor_gain | 0.6500 |
| 13:35474946:A:AG | acceptor_gain | 0.6400 |
| 13:35475014:GACTT:G | donor_gain | 0.6400 |
| 13:35475025:GG:G | donor_gain | 0.6400 |
| 13:35475026:GG:G | donor_gain | 0.6400 |
| 13:35475081:G:A | acceptor_gain | 0.6100 |
| 13:35475434:CGCGA:C | acceptor_gain | 0.6100 |
| 13:35474947:A:G | acceptor_gain | 0.6000 |
| 13:35475024:AG:A | donor_gain | 0.6000 |
| 13:35477268:T:TA | donor_gain | 0.6000 |
| 13:35477269:A:AA | donor_gain | 0.6000 |
AlphaMissense
2348 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:35475207:A:G | L311P | 1.000 |
| 13:35475219:A:G | L307P | 1.000 |
| 13:35475243:C:G | R299P | 1.000 |
| 13:35475266:C:A | W291C | 1.000 |
| 13:35475266:C:G | W291C | 1.000 |
| 13:35475267:C:G | W291S | 1.000 |
| 13:35475268:A:G | W291R | 1.000 |
| 13:35475268:A:T | W291R | 1.000 |
| 13:35475449:C:A | W230C | 1.000 |
| 13:35475449:C:G | W230C | 1.000 |
| 13:35475451:A:G | W230R | 1.000 |
| 13:35475451:A:T | W230R | 1.000 |
| 13:35475510:A:G | L210P | 1.000 |
| 13:35475520:C:G | G207R | 1.000 |
| 13:35475559:A:G | W194R | 1.000 |
| 13:35475559:A:T | W194R | 1.000 |
| 13:35475578:C:A | W187C | 1.000 |
| 13:35475578:C:G | W187C | 1.000 |
| 13:35475580:A:G | W187R | 1.000 |
| 13:35475580:A:T | W187R | 1.000 |
| 13:35475588:G:T | A184D | 1.000 |
| 13:35475599:C:A | W180C | 1.000 |
| 13:35475599:C:G | W180C | 1.000 |
| 13:35475601:A:G | W180R | 1.000 |
| 13:35475601:A:T | W180R | 1.000 |
| 13:35475611:G:C | C176W | 1.000 |
| 13:35475613:A:G | C176R | 1.000 |
| 13:35475617:A:C | F174L | 1.000 |
| 13:35475617:A:T | F174L | 1.000 |
| 13:35475618:A:G | F174S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000300376 (13:35474166 T>C), RS1000567375 (13:35474511 T>A,C), RS1000602935 (13:35477587 C>A,G), RS1001676886 (13:35475592 T>C), RS1001822147 (13:35473755 C>T), RS1002191081 (13:35473444 A>T), RS1003314369 (13:35478513 G>C,T), RS1005220686 (13:35478196 C>G), RS1006487563 (13:35476978 A>C), RS1006867182 (13:35476641 G>A,T), RS1007304396 (13:35476658 A>G,T), RS1007336291 (13:35476624 G>A,C,T), RS1008195725 (13:35475437 G>A,T), RS1008302109 (13:35474514 T>C), RS1008981380 (13:35474625 T>A)
Disease associations
OMIM: gene MIM:601280 | disease phenotypes: MIM:619157, MIM:618479
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| cerebellar, ocular, craniofacial, and genital syndrome | Strong | Autosomal recessive |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| cerebellar, ocular, craniofacial, and genital syndrome | Strong | AR |
Mondo (2): neurodevelopmental disorder with or without early-onset generalized epilepsy (MONDO:0030930), cerebellar, ocular, craniofacial, and genital syndrome (MONDO:0032774)
Orphanet (0):
HPO phenotypes
64 total (30 of 64 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000047 | Hypospadias |
| HP:0000064 | Hypoplastic labia minora |
| HP:0000107 | Renal cyst |
| HP:0000252 | Microcephaly |
| HP:0000280 | Coarse facial features |
| HP:0000294 | Low anterior hairline |
| HP:0000319 | Smooth philtrum |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
| HP:0000350 | Small forehead |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000369 | Low-set ears |
| HP:0000411 | Protruding ear |
| HP:0000455 | Broad nasal tip |
| HP:0000463 | Anteverted nares |
| HP:0000470 | Short neck |
| HP:0000478 | Abnormality of the eye |
| HP:0000486 | Strabismus |
| HP:0000505 | Visual impairment |
| HP:0000527 | Long eyelashes |
| HP:0000546 | Retinal degeneration |
| HP:0000557 | Buphthalmos |
| HP:0000609 | Optic nerve hypoplasia |
| HP:0000639 | Nystagmus |
| HP:0000664 | Synophrys |
| HP:0000666 | Horizontal nystagmus |
| HP:0000718 | Aggressive behavior |
| HP:0001007 | Hirsutism |
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
17 total (human), top 17 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, increases expression | 3 |
| bisphenol A | decreases expression | 1 |
| arsenite | decreases expression | 1 |
| sodium arsenite | affects methylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | decreases expression, affects cotreatment | 1 |
| Vorinostat | affects cotreatment, increases expression, decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, decreases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| tert-Butylhydroperoxide | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A3Y9 | SEES3-1V human MAB21L1, clone1 | Embryonic stem cell | Male |
| CVCL_A3Z0 | SEES3-1V human MAB21L1, clone2 | Embryonic stem cell | Male |
| CVCL_A3Z1 | SEES3-1V human MAB21L1, clone3 | Embryonic stem cell | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: cerebellar, ocular, craniofacial, and genital syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cerebellar, ocular, craniofacial, and genital syndrome, neurodevelopmental disorder with or without early-onset generalized epilepsy