MORF4L2
gene geneOn this page
Also known as KIAA0026MRGX
Summary
MORF4L2 (mortality factor 4 like 2, HGNC:16849) is a protein-coding gene on chromosome Xq22.2, encoding Mortality factor 4-like protein 2 (Q15014). Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histone H4 and H2A.
Involved in positive regulation of double-strand break repair via homologous recombination and regulation of cell cycle. Located in nucleolus; nucleoplasm; and plasma membrane. Part of NuA4 histone acetyltransferase complex and nucleosome.
Source: NCBI Gene 9643 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 35 total — 3 pathogenic
- MANE Select transcript:
NM_012286
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16849 |
| Approved symbol | MORF4L2 |
| Name | mortality factor 4 like 2 |
| Location | Xq22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0026, MRGX |
| Ensembl gene | ENSG00000123562 |
| Ensembl biotype | protein_coding |
| OMIM | 300409 |
| Entrez | 9643 |
Gene structure
Transcript identifiers
Ensembl transcripts: 97 — 92 protein_coding, 5 protein_coding_CDS_not_defined
ENST00000360458, ENST00000418819, ENST00000422355, ENST00000433176, ENST00000434230, ENST00000441076, ENST00000442614, ENST00000451301, ENST00000467755, ENST00000474653, ENST00000488331, ENST00000492116, ENST00000498064, ENST00000908311, ENST00000908312, ENST00000908313, ENST00000908314, ENST00000908315, ENST00000908316, ENST00000908317, ENST00000908318, ENST00000908319, ENST00000908320, ENST00000908321, ENST00000908322, ENST00000908323, ENST00000908324, ENST00000908325, ENST00000908326, ENST00000908327, ENST00000908328, ENST00000908329, ENST00000908330, ENST00000908331, ENST00000908332, ENST00000908333, ENST00000908334, ENST00000908335, ENST00000908336, ENST00000908337, ENST00000908338, ENST00000908339, ENST00000908340, ENST00000908341, ENST00000908342, ENST00000908343, ENST00000908344, ENST00000908345, ENST00000918784, ENST00000918785, ENST00000918786, ENST00000918787, ENST00000918788, ENST00000918789, ENST00000918790, ENST00000918791, ENST00000918792, ENST00000918793, ENST00000918794, ENST00000918795, ENST00000918796, ENST00000918797, ENST00000918798, ENST00000918799, ENST00000918800, ENST00000918801, ENST00000918802, ENST00000918803, ENST00000918804, ENST00000918805, ENST00000918806, ENST00000918807, ENST00000918808, ENST00000918809, ENST00000918810, ENST00000918811, ENST00000918812, ENST00000918813, ENST00000918814, ENST00000918815, ENST00000918816, ENST00000918817, ENST00000918818, ENST00000918819, ENST00000918820, ENST00000970647, ENST00000970648, ENST00000970649, ENST00000970650, ENST00000970651, ENST00000970652, ENST00000970653, ENST00000970654, ENST00000970655, ENST00000970656, ENST00000970657, ENST00000970658
RefSeq mRNA: 16 — MANE Select: NM_012286
NM_001142418, NM_001142419, NM_001142420, NM_001142421, NM_001142422, NM_001142423, NM_001142424, NM_001142425, NM_001142426, NM_001142427, NM_001142428, NM_001142429, NM_001142430, NM_001142431, NM_001142432, NM_012286
CCDS: CCDS14512
Canonical transcript exons
ENST00000441076 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001105620 | 103678499 | 103678651 |
| ENSE00001381796 | 103685171 | 103685260 |
| ENSE00001836859 | 103686631 | 103686699 |
| ENSE00001886847 | 103675498 | 103677051 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 99.80.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 234.9215 / max 7866.7275, expressed in 1826 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 200009 | 205.3306 | 1826 |
| 200011 | 23.1451 | 1782 |
| 200008 | 2.3922 | 1123 |
| 200012 | 1.6175 | 965 |
| 200010 | 0.8434 | 442 |
| 200006 | 0.8117 | 431 |
| 200004 | 0.6496 | 352 |
| 200005 | 0.1314 | 35 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 99.80 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 99.77 | gold quality |
| bronchial epithelial cell | CL:0002328 | 99.69 | gold quality |
| pons | UBERON:0000988 | 99.69 | gold quality |
| caput epididymis | UBERON:0004358 | 99.69 | gold quality |
| cauda epididymis | UBERON:0004360 | 99.69 | gold quality |
| postcentral gyrus | UBERON:0002581 | 99.66 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 99.66 | gold quality |
| seminal vesicle | UBERON:0000998 | 99.64 | gold quality |
| parietal lobe | UBERON:0001872 | 99.64 | gold quality |
| corpus epididymis | UBERON:0004359 | 99.63 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 99.63 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 99.61 | gold quality |
| bronchus | UBERON:0002185 | 99.61 | gold quality |
| tibia | UBERON:0000979 | 99.57 | gold quality |
| endometrium | UBERON:0001295 | 99.56 | gold quality |
| adult organism | UBERON:0007023 | 99.56 | gold quality |
| decidua | UBERON:0002450 | 99.53 | gold quality |
| saphenous vein | UBERON:0007318 | 99.52 | gold quality |
| myometrium | UBERON:0001296 | 99.51 | gold quality |
| entorhinal cortex | UBERON:0002728 | 99.50 | gold quality |
| frontal pole | UBERON:0002795 | 99.50 | gold quality |
| pericardium | UBERON:0002407 | 99.48 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 99.48 | gold quality |
| ovary | UBERON:0000992 | 99.47 | gold quality |
| mammary duct | UBERON:0001765 | 99.47 | gold quality |
| medulla oblongata | UBERON:0001896 | 99.47 | gold quality |
| left ovary | UBERON:0002119 | 99.47 | gold quality |
| right ovary | UBERON:0002118 | 99.46 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 99.46 | gold quality |
Single-cell (SCXA)
Detected in 11 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6701 | yes | 74.51 |
| E-GEOD-134144 | yes | 35.42 |
| E-MTAB-6678 | yes | 17.46 |
| E-MTAB-7316 | yes | 13.24 |
| E-HCAD-11 | yes | 6.83 |
| E-HCAD-9 | yes | 6.28 |
| E-MTAB-6819 | no | 3022.42 |
| E-HCAD-5 | no | 1358.42 |
| E-MTAB-8381 | no | 503.13 |
| E-MTAB-10287 | no | 43.90 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
104 targeting MORF4L2, 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-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-498-3P | 99.91 | 71.27 | 1114 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
Literature-anchored findings (GeneRIF, showing 5)
- can repress or activate the B-myb promoter depending on the cell type studied, suggesting that there may be tissue-specific functions of this protein (PMID:14506250)
- The transcriptional status of four key genes, thymidylate synthase (TYMS), MORF-related gene X (MRGX), Bcl2-antagonist/killer (BAK), and ATPase, Cu(2+) transporting beta polypeptide (ATP7B), can accurately predict response to 5-FU. (PMID:18593893)
- Suberoylanilide hydroxamic acid enhanced the expression of malignant genes such as MORF4L2 in lung cancer cells remaining after treatment, creating a more drug-resistant state. (PMID:25796627)
- Identification of hub genes in unstable atherosclerotic plaque by conjoint analysis of bioinformatics. (PMID:33011223)
- miR-3156-5p is downregulated in serum of MEN1 patients and regulates expression of MORF4L2. (PMID:35900839)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Morf4l2 | ENSMUSG00000031422 |
| rattus_norvegicus | Morf4l2 | ENSRNOG00000002389 |
| rattus_norvegicus | RGD1564748 | ENSRNOG00000066849 |
| drosophila_melanogaster | MRG15 | FBGN0027378 |
Paralogs (3): MSL3 (ENSG00000005302), MORF4L1 (ENSG00000185787), MSL3B (ENSG00000293137)
Protein
Protein identifiers
Mortality factor 4-like protein 2 — Q15014 (reviewed: Q15014)
Alternative names: MORF-related gene X protein, Protein MSL3-2, Transcription factor-like protein MRGX
All UniProt accessions (4): Q15014, Q5JXX1, Q5JXX2, Q5JXX6
UniProt curated annotations — full annotation on UniProt →
Function. Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histone H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400. NuA4 may also play a direct role in DNA repair when directly recruited to sites of DNA damage. Also a component of the MSIN3A complex which acts to repress transcription by deacetylation of nucleosomal histones.
Subunit / interactions. Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5/TIP60 and the subunits EP400, TRRAP/PAF400, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, ING3, actin, ACTL6A/BAF53A, MORF4L1/MRG15, MORF4L2/MRGX, MRGBP, YEATS4/GAS41 and VPS72/YL1. The NuA4 complex interacts with MYC and the adenovirus E1A protein. MORF4L1 may also participate in the formation of NuA4 related complexes which lack the KAT5/TIP60 catalytic subunit, but which include the SWI/SNF related protein SRCAP. Component of the MSIN3A histone deacetylase complex, which includes SIN3A, HDAC2, ARID4B, MORF4L1, RBBP4/RbAp48, and RBBP7/RbAp46. Interacts with MRFAP1 and RB1. May also interact with one or more as yet undefined members of the TLE (transducin-like enhancer of split) family of transcriptional repressors.
Subcellular location. Nucleus.
RefSeq proteins (16): NP_001135890, NP_001135891, NP_001135892, NP_001135893, NP_001135894, NP_001135895, NP_001135896, NP_001135897, NP_001135898, NP_001135899, NP_001135900, NP_001135901, NP_001135902, NP_001135903, NP_001135904, NP_036418* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008676 | MRG | Family |
| IPR026541 | MRG_dom | Domain |
| IPR038217 | MRG_C_sf | Homologous_superfamily |
Pfam: PF05712
UniProt features (7 total): mutagenesis site 2, chain 1, domain 1, region of interest 1, compositionally biased region 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q15014-F1 | 74.12 | 0.50 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 71
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 132–136 | abrogates both transcriptional activation and repression by morf4l2. |
| 263 | abrogates both transcriptional activation and repression by morf4l2. |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-3214847 | HATs acetylate histones |
| R-HSA-3247509 | Chromatin modifying enzymes |
| R-HSA-4839726 | Chromatin organization |
MSigDB gene sets: 313 (showing top):
GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_REGULATION_OF_DNA_RECOMBINATION, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, TGCGCANK_UNKNOWN, MORF_RAB5A, AAGTCCA_MIR422B_MIR422A, GCANCTGNY_MYOD_Q6, CMYB_01, SP3_Q3, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, MORF_RAD21, HSIAO_HOUSEKEEPING_GENES
GO Biological Process (9): DNA repair (GO:0006281), chromatin organization (GO:0006325), regulation of apoptotic process (GO:0042981), positive regulation of DNA-templated transcription (GO:0045893), regulation of cell cycle (GO:0051726), positive regulation of double-strand break repair via homologous recombination (GO:1905168), regulation of double-strand break repair (GO:2000779), regulation of DNA-templated transcription (GO:0006355), DNA damage response (GO:0006974)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (6): nucleosome (GO:0000786), nucleoplasm (GO:0005654), nucleolus (GO:0005730), plasma membrane (GO:0005886), NuA4 histone acetyltransferase complex (GO:0035267), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Chromatin modifying enzymes | 1 |
| Chromatin organization | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA-templated transcription | 2 |
| nuclear lumen | 2 |
| DNA metabolic process | 1 |
| DNA damage response | 1 |
| cellular component organization | 1 |
| apoptotic process | 1 |
| regulation of programmed cell death | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| cell cycle | 1 |
| regulation of cellular process | 1 |
| double-strand break repair via homologous recombination | 1 |
| regulation of double-strand break repair via homologous recombination | 1 |
| positive regulation of DNA recombination | 1 |
| positive regulation of double-strand break repair | 1 |
| regulation of DNA repair | 1 |
| double-strand break repair | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cellular response to stress | 1 |
| binding | 1 |
| chromatin | 1 |
| protein-DNA complex | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| H4/H2A histone acetyltransferase complex | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2198 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MORF4L2 | MRGBP | Q9NV56 | 991 |
| MORF4L2 | KAT5 | Q92993 | 891 |
| MORF4L2 | TRRAP | Q9Y4A5 | 856 |
| MORF4L2 | BRD8 | Q9H0E9 | 762 |
| MORF4L2 | YEATS4 | O95619 | 686 |
| MORF4L2 | MEAF6 | Q9HAF1 | 674 |
| MORF4L2 | ING3 | Q9NXR8 | 639 |
| MORF4L2 | DMAP1 | Q9NPF5 | 626 |
| MORF4L2 | KAT6B | Q8WYB5 | 602 |
| MORF4L2 | MRFAP1 | Q9Y605 | 586 |
| MORF4L2 | HDAC1 | Q13547 | 574 |
| MORF4L2 | UBXN7 | O94888 | 500 |
| MORF4L2 | MBTD1 | Q05BQ5 | 472 |
| MORF4L2 | KAT7 | O95251 | 470 |
| MORF4L2 | MSL3 | Q8N5Y2 | 458 |
IntAct
312 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MRFAP1 | MORF4L2 | psi-mi:“MI:0915”(physical association) | 0.950 |
| MORF4L2 | MRFAP1 | psi-mi:“MI:0915”(physical association) | 0.950 |
| MRGBP | MORF4L2 | psi-mi:“MI:0915”(physical association) | 0.940 |
| MORF4L2 | MRGBP | psi-mi:“MI:0915”(physical association) | 0.940 |
| MRFAP1L1 | MORF4L2 | psi-mi:“MI:0915”(physical association) | 0.830 |
| MORF4L2 | MRFAP1L1 | psi-mi:“MI:0915”(physical association) | 0.830 |
| H2AZ1 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.770 |
| MBTD1 | YEATS4 | psi-mi:“MI:0914”(association) | 0.730 |
| MBTD1 | MORF4L2 | psi-mi:“MI:0914”(association) | 0.730 |
| MORF4L2 | CEP55 | psi-mi:“MI:0915”(physical association) | 0.720 |
| DDIT4L | MORF4L2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| MORF4L2 | DDIT4L | psi-mi:“MI:0915”(physical association) | 0.720 |
| MORF4L2 | ZBTB43 | psi-mi:“MI:0915”(physical association) | 0.670 |
BioGRID (342): MORF4L2 (Two-hybrid), MORF4L2 (Two-hybrid), MORF4L2 (Two-hybrid), MORF4L2 (Two-hybrid), MORF4L2 (Two-hybrid), TNIP1 (Two-hybrid), IKZF1 (Two-hybrid), PNMA2 (Two-hybrid), ZBTB43 (Two-hybrid), KLHL3 (Two-hybrid), ZBTB7B (Two-hybrid), THAP1 (Two-hybrid), CEP55 (Two-hybrid), MRGBP (Two-hybrid), GRAMD3 (Two-hybrid)
ESM2 similar proteins: A5A6J5, D4AB66, E2RSQ2, F1M5F3, F1N2W9, F1QDI9, I0IUP4, O14795, P17863, P22681, P22682, P49797, Q02040, Q15014, Q24K03, Q2KHI9, Q2KJ58, Q2T9Y1, Q2YDJ8, Q496Y0, Q4KUS2, Q4R578, Q52L14, Q56K12, Q5C9Z4, Q5F3L9, Q5M7C8, Q5R6Y9, Q5R905, Q62768, Q62769, Q66JB6, Q69ZT9, Q6QI89, Q8BND4, Q8BZ60, Q8HXH0, Q8IYS8, Q8N5Y2, Q8VDV3
Diamond homologs: A5A6J5, A7DTF0, G3X992, O13953, P0C860, P0CO86, P0CO87, P60762, Q12432, Q15014, Q4P827, Q4R578, Q4V3E2, Q4WPW2, Q54RM0, Q59K07, Q5BBV4, Q5NVP9, Q5R6Y9, Q5R905, Q6AYG1, Q6AYU1, Q6BT38, Q6C9M9, Q6CND0, Q6QI89, Q75AH9, Q8N5Y2, Q94C32, Q9R0Q4, Q9UBU8, Q9WVG9, Q9Y0I1, P50536, Q9NBL2, A2CG63, F8VPQ2, P29374, Q4LE39, Q6FN68
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MORF4L2 | “form complex” | “NuA4 complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 80 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| HATs acetylate histones | 6 | 11.6× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of double-strand break repair | 7 | 59.0× | 1e-08 |
| positive regulation of double-strand break repair via homologous recombination | 7 | 38.9× | 1e-07 |
| chromatin organization | 8 | 11.5× | 4e-05 |
| regulation of apoptotic process | 9 | 10.9× | 2e-05 |
| regulation of cell cycle | 8 | 8.7× | 2e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
35 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 0 |
| Uncertain significance | 19 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 253519 | GRCh37/hg19 Xq22.2(chrX:102774255-103167770)x3 | Pathogenic |
| 58664 | GRCh38/hg38 Xq22.1-22.3(chrX:101620923-107632397)x3 | Pathogenic |
| 816375 | GRCh37/hg19 Xq22.2(chrX:102742391-103109211)x2 | Pathogenic |
SpliceAI
793 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:103685164:CACTT:C | donor_loss | 1.0000 |
| X:103685165:ACTT:A | donor_loss | 1.0000 |
| X:103685166:CTTAC:C | donor_loss | 1.0000 |
| X:103685167:TTACC:T | donor_loss | 1.0000 |
| X:103685168:TAC:T | donor_loss | 1.0000 |
| X:103685169:A:AC | donor_gain | 1.0000 |
| X:103685169:AC:A | donor_gain | 1.0000 |
| X:103685170:C:CC | donor_gain | 1.0000 |
| X:103685170:C:CT | donor_loss | 1.0000 |
| X:103685170:CC:C | donor_gain | 1.0000 |
| X:103677049:CCA:C | acceptor_gain | 0.9900 |
| X:103677050:CA:C | acceptor_gain | 0.9900 |
| X:103677050:CAC:C | acceptor_gain | 0.9900 |
| X:103677052:C:CC | acceptor_gain | 0.9900 |
| X:103678497:A:AC | donor_gain | 0.9900 |
| X:103678498:C:CC | donor_gain | 0.9900 |
| X:103678498:CA:C | donor_gain | 0.9900 |
| X:103684440:TGAA:T | donor_gain | 0.9900 |
| X:103685170:CCCAA:C | donor_gain | 0.9900 |
| X:103685257:TGAC:T | acceptor_gain | 0.9900 |
| X:103685261:C:CC | acceptor_gain | 0.9900 |
| X:103685262:T:A | acceptor_loss | 0.9900 |
| X:103685270:C:CT | acceptor_gain | 0.9900 |
| X:103685274:C:CT | acceptor_gain | 0.9900 |
| X:103686653:C:A | donor_gain | 0.9900 |
| X:103687983:TCTTA:T | donor_loss | 0.9900 |
| X:103687986:TACCT:T | donor_loss | 0.9900 |
| X:103678506:T:TA | donor_gain | 0.9800 |
| X:103684439:TTGAA:T | donor_gain | 0.9800 |
| X:103685169:ACC:A | donor_gain | 0.9800 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000076182 (X:103689865 G>T), RS1000131845 (X:103689191 A>G), RS1000515063 (X:103677776 T>A), RS1001132002 (X:103686707 G>A), RS1001336362 (X:103686396 G>A), RS1001401639 (X:103678670 A>G), RS1001449081 (X:103686843 C>T), RS1001920448 (X:103687880 G>A), RS1002569340 (X:103684767 T>C), RS1002775225 (X:103688518 A>G), RS1003009945 (X:103683825 T>C), RS1003093421 (X:103682065 A>G), RS1003145793 (X:103681546 A>AT), RS1003451958 (X:103681990 C>T), RS1003841795 (X:103688164 C>G,T)
Disease associations
OMIM: gene MIM:300409 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90002389_496 | Lymphocyte percentage of white cells | 4.000000e-12 |
| GCST90002395_643 | Mean platelet volume | 4.000000e-11 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007993 | lymphocyte percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, decreases methylation | 3 |
| bisphenol A | affects cotreatment, increases methylation, decreases expression | 2 |
| chloropicrin | affects expression, decreases expression | 2 |
| Rotenone | decreases expression, increases expression | 2 |
| Dronabinol | decreases expression, increases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Particulate Matter | increases abundance, increases expression, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| methylparaben | increases expression | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| manganese chloride | increases expression, affects cotreatment, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| azoxystrobin | increases expression | 1 |
| entinostat | increases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Azacitidine | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Catechin | affects cotreatment, increases expression | 1 |
| Copper | affects binding, increases expression | 1 |
| Coumestrol | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1DV | Abcam HCT 116 MORF4L2 KO | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.