GRHL1
geneOn this page
Also known as LBP-32MGR
Summary
GRHL1 (grainyhead like transcription factor 1, HGNC:17923) is a protein-coding gene on chromosome 2p25.1, encoding Grainyhead-like protein 1 homolog (Q9NZI5). Transcription factor involved in epithelial development.
This gene encodes a member of the grainyhead family of transcription factors. The encoded protein can exist as a homodimer or can form heterodimers with sister-of-mammalian grainyhead or brother-of-mammalian grainyhead. This protein functions as a transcription factor during development.
Source: NCBI Gene 29841 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 90 total
- MANE Select transcript:
NM_198182
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17923 |
| Approved symbol | GRHL1 |
| Name | grainyhead like transcription factor 1 |
| Location | 2p25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | LBP-32, MGR |
| Ensembl gene | ENSG00000134317 |
| Ensembl biotype | protein_coding |
| OMIM | 609786 |
| Entrez | 29841 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 3 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron
ENST00000324907, ENST00000405379, ENST00000439493, ENST00000464418, ENST00000472167, ENST00000480736, ENST00000494520, ENST00000497403
RefSeq mRNA: 1 — MANE Select: NM_198182
NM_198182
CCDS: CCDS33144
Canonical transcript exons
ENST00000324907 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001562017 | 10000593 | 10002277 |
| ENSE00003472866 | 9993207 | 9993244 |
| ENSE00003474033 | 9958786 | 9958856 |
| ENSE00003476091 | 9954915 | 9955101 |
| ENSE00003513602 | 9995879 | 9995970 |
| ENSE00003525670 | 9951693 | 9951853 |
| ENSE00003536443 | 9990696 | 9990747 |
| ENSE00003567786 | 9964235 | 9964346 |
| ENSE00003576157 | 9962455 | 9962531 |
| ENSE00003599947 | 9963886 | 9964042 |
| ENSE00003610834 | 9998965 | 9999029 |
| ENSE00003621121 | 9986124 | 9986282 |
| ENSE00003632212 | 9961046 | 9961436 |
| ENSE00003666582 | 9996316 | 9996401 |
| ENSE00003683370 | 9965287 | 9965381 |
| ENSE00003690735 | 9992007 | 9992146 |
Expression profiles
Bgee: expression breadth ubiquitous, 220 present calls, max score 99.61.
FANTOM5 (CAGE): breadth broad, TPM avg 2.6984 / max 149.3798, expressed in 717 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 18791 | 2.0274 | 612 |
| 18790 | 0.3902 | 233 |
| 18793 | 0.1929 | 105 |
| 18792 | 0.0519 | 20 |
| 18797 | 0.0180 | 4 |
| 18798 | 0.0179 | 4 |
Top tissues by expression
250 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| upper arm skin | UBERON:0004263 | 99.61 | gold quality |
| upper leg skin | UBERON:0004262 | 99.13 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 98.89 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 98.40 | gold quality |
| gingival epithelium | UBERON:0001949 | 98.27 | gold quality |
| gingiva | UBERON:0001828 | 98.17 | gold quality |
| mammalian vulva | UBERON:0000997 | 98.05 | gold quality |
| penis | UBERON:0000989 | 97.80 | gold quality |
| oral cavity | UBERON:0000167 | 97.79 | gold quality |
| skin of hip | UBERON:0001554 | 97.50 | gold quality |
| esophagus mucosa | UBERON:0002469 | 97.20 | gold quality |
| skin of abdomen | UBERON:0001416 | 97.15 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 96.85 | gold quality |
| zone of skin | UBERON:0000014 | 96.77 | gold quality |
| skin of leg | UBERON:0001511 | 96.48 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 96.13 | gold quality |
| oocyte | CL:0000023 | 95.90 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 95.66 | gold quality |
| body of tongue | UBERON:0011876 | 95.37 | gold quality |
| mouth mucosa | UBERON:0003729 | 94.71 | gold quality |
| amniotic fluid | UBERON:0000173 | 94.41 | gold quality |
| minor salivary gland | UBERON:0001830 | 94.21 | gold quality |
| secondary oocyte | CL:0000655 | 94.20 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 94.16 | gold quality |
| parotid gland | UBERON:0001831 | 94.00 | gold quality |
| placenta | UBERON:0001987 | 93.03 | gold quality |
| tonsil | UBERON:0002372 | 92.11 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 91.76 | gold quality |
| tongue | UBERON:0001723 | 90.56 | gold quality |
| vagina | UBERON:0000996 | 90.46 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6819 | yes | 233.75 |
| E-ANND-3 | yes | 8.82 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| CYP11A1 | Unknown |
| IGF2 |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0647.1 | GRHL1 | Grainyhead-related factors |
| MA0647.2 | GRHL1 | Grainyhead-related factors |
JASPAR matrix evidence (PMIDs): PMID:18288204
Upstream regulators (CollecTRI, top): HDAC3, MYCN, TFCP2L1
Literature-anchored findings (GeneRIF, showing 14)
- Includes a comparison to TFCP2L2, the GRHL1 protein. (PMID:12393799)
- LBP-1b and LBP-9 both stimulate LBP-32/MGR promoter activity. (PMID:18004979)
- Our findings reveal important pathophysiological differences between human pulmonary fibrosis and specific mouse models of fibrosis and support a crucial role of GRHL2 in epithelial activation in lung fibrosis and perhaps also in epithelial plasticity. (PMID:24375798)
- A significant role for HDAC3 in the MYCN-mediated repression of GRHL1. (PMID:24419085)
- Downregulation of miR122 by grainyhead-like 2 restricts the hepatocytic differentiation potential of adult liver progenitor cells. (PMID:25406394)
- Grhl1 deficiency affects inner ear development in zebrafish. (PMID:25896282)
- GRHL1, GRHL2, and GRHL3 have roles in cellular proliferation, differentiation, adhesion, and polarity and may promote cancer or be tumor suppressors [review] (PMID:26069269)
- it was observed that ER stimulated gene expression by interacting with MEIS1 and FOXP3, and ER inhibited gene expression by interacting with THRB and GRHL1. (PMID:27035558)
- All of these processes involve epithelial-mesencyhmal transition (EMT), MET or a sequence of both, suggesting that the GRHL factors((GRHL1, GRHL2 and GRHL3), could potentially affect tumor initiation and progression via EMT (PMID:28714958)
- Non-melanoma skin cancer growth is accompanied by coordinated reduced expression of epidermal differentiation genes: GRHL1 and GRHL3, which may be regulated by miR-21-3p and -5p, respectively. Some potentially damaging single nucleotide polymorphisms in GRHL genes occur with altered frequencies in NMSC patients, and they may in particular impair the expression of GRHL3 gene or functioning of encoded protein (PMID:29301499)
- Structural basis of DNA target-site recognition by grainyhead-like 1. (PMID:29309642)
- Grainyhead 1 acts as a drug-inducible conserved transcriptional regulator linked to insulin signaling and lifespan. (PMID:35013237)
- Discovery of a non-canonical GRHL1 binding site using deep convolutional and recurrent neural networks. (PMID:38049725)
- Vitamin D Receptor Regulates the Expression of the Grainyhead-Like 1 Gene. (PMID:39063155)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | grhl1 | ENSDARG00000061391 |
| mus_musculus | Grhl1 | ENSMUSG00000020656 |
| rattus_norvegicus | Grhl1 | ENSRNOG00000054989 |
| drosophila_melanogaster | gem | FBGN0050011 |
| caenorhabditis_elegans | grh-1 | WBGENE00001707 |
Paralogs (5): GRHL2 (ENSG00000083307), TFCP2L1 (ENSG00000115112), TFCP2 (ENSG00000135457), UBP1 (ENSG00000153560), GRHL3 (ENSG00000158055)
Protein
Protein identifiers
Grainyhead-like protein 1 homolog — Q9NZI5 (reviewed: Q9NZI5)
Alternative names: Mammalian grainyhead, NH32, Transcription factor CP2-like 2, Transcription factor LBP-32
All UniProt accessions (4): B7Z1S6, C9JYY8, Q9NZI5, F8WFB0
UniProt curated annotations — full annotation on UniProt →
Function. Transcription factor involved in epithelial development. Binds directly to the consensus DNA sequence 5’-AACCGGTT-3’. Important regulator of DSG1 in the context of hair anchorage and epidermal differentiation, participates in the maintenance of the skin barrier. There is no genetic interaction with GRHL3, nor functional cooperativity due to diverse target gene selectivity during epithelia development. May play a role in regulating glucose homeostasis and insulin signaling. Functions as a transcription activator. May function as a repressor in tissues where both isoform 1 and isoform 2 are expressed.
Subunit / interactions. Binds DNA as homodimer. Homodimer, also forms heterodimers with GRHL2 or GRHL3.
Subcellular location. Nucleus.
Tissue specificity. Isoform 1 is highly expressed in brain, pancreas, tonsil, placenta and kidney. Isoform 2 is highly expressed in brain and liver. Expressed at very low levels in non-steroidogenic cells.
Post-translational modifications. Methylation at Arg-9 and Lys-116 may be involved in regulating transcriptional activation.
Miscellaneous. GRHL genes (GRHL1, GRHL2 and GRHL3) show a paradoxical lack of redundancy despite their extensive sequence identity in the DNA-binding and protein dimerization domains and the fact that the core consensus DNA binding sites are identical. They have related but remarkably different functions during embryogenesis because of their differential spatiotemporal expression patterns during development.
Similarity. Belongs to the grh/CP2 family. Grainyhead subfamily.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NZI5-1 | 1, p70 MGR | yes |
| Q9NZI5-2 | 2, p49 MGR | |
| Q9NZI5-3 | 3 |
RefSeq proteins (1): NP_937825* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007604 | CP2 | Domain |
| IPR040167 | TF_CP2-like | Family |
| IPR057520 | GRHL1/CP2_C | Domain |
Pfam: PF04516, PF25416
UniProt features (50 total): strand 16, mutagenesis site 10, sequence conflict 5, splice variant 4, region of interest 4, helix 3, sequence variant 2, turn 2, chain 1, domain 1, compositionally biased region 1, modified residue 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5MPH | X-RAY DIFFRACTION | 2.34 |
| 5MPI | X-RAY DIFFRACTION | 2.35 |
| 5MPF | X-RAY DIFFRACTION | 2.92 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NZI5-F1 | 67.74 | 0.38 |
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): 208
Mutagenesis-validated functional residues (10):
| Position | Phenotype |
|---|---|
| 9 | increases activity as transcriptional activator. |
| 116 | reduces activity as transcriptional activator. |
| 378 | decreases affinity for target dna. |
| 380 | decreases affinity for target dna. |
| 385 | decreases affinity for target dna. |
| 421 | no effect on affinity for target dna. |
| 427 | loss of activity as transcriptional activator. strongly decreases affinity for target dna. |
| 427 | loss of activity as transcriptional activator. nearly abolishes affinity for target dna. causes steric hindrance that im |
| 428 | decreases affinity for target dna. |
| 430 | decreases affinity for target dna. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-1989781 | PPARA activates gene expression |
MSigDB gene sets: 222 (showing top):
GOBP_EPITHELIUM_DEVELOPMENT, chr2p25, GOBP_REGULATION_OF_EPIDERMIS_DEVELOPMENT, NKX25_02, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, CHX10_01, GOBP_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, GOBP_CELL_JUNCTION_ORGANIZATION, MARTINEZ_RB1_TARGETS_DN, MCBRYAN_PUBERTAL_BREAST_3_4WK_UP, LASTOWSKA_COAMPLIFIED_WITH_MYCN, MCBRYAN_PUBERTAL_BREAST_5_6WK_UP, GOZGIT_ESR1_TARGETS_UP, GOBP_EPIDERMIS_DEVELOPMENT
GO Biological Process (7): desmosome organization (GO:0002934), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), epidermis development (GO:0008544), regulation of keratinocyte differentiation (GO:0045616), positive regulation of transcription by RNA polymerase II (GO:0045944), establishment of skin barrier (GO:0061436)
GO Molecular Function (13): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), chromatin DNA binding (GO:0031490), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), sequence-specific DNA binding (GO:0043565), DNA-binding transcription factor binding (GO:0140297), sequence-specific double-stranded DNA binding (GO:1990837), protein binding (GO:0005515)
GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Regulation of lipid metabolism by PPARalpha | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| regulation of DNA-templated transcription | 2 |
| transcription by RNA polymerase II | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| DNA binding | 2 |
| cellular anatomical structure | 2 |
| cell-cell junction organization | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| tissue development | 1 |
| keratinocyte differentiation | 1 |
| regulation of epidermal cell differentiation | 1 |
| positive regulation of DNA-templated transcription | 1 |
| skin epidermis development | 1 |
| transcription regulatory region nucleic acid binding | 1 |
| sequence-specific double-stranded DNA binding | 1 |
| cis-regulatory region sequence-specific 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 |
| nucleic acid binding | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| chromatin binding | 1 |
| protein binding | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| transcription factor binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
Protein interactions and networks
STRING
974 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GRHL1 | CYP11A1 | P05108 | 603 |
| GRHL1 | TGM1 | P22735 | 521 |
| GRHL1 | ESRP1 | Q6NXG1 | 476 |
| GRHL1 | KLF11 | O14901 | 475 |
| GRHL1 | ESR1 | P03372 | 468 |
| GRHL1 | OVOL2 | Q9BRP0 | 465 |
| GRHL1 | OVOL1 | O14753 | 461 |
| GRHL1 | GLIS2 | Q9BZE0 | 443 |
| GRHL1 | ESRP2 | Q9H6T0 | 425 |
| GRHL1 | ZNF750 | Q32MQ0 | 421 |
| GRHL1 | AIRE | O43918 | 418 |
| GRHL1 | FOXM1 | Q08050 | 406 |
| GRHL1 | ZCCHC24 | Q8N2G6 | 404 |
| GRHL1 | DSG1 | Q02413 | 399 |
| GRHL1 | IKZF2 | Q9UKS7 | 390 |
IntAct
16 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GRHL2 | GRHL1 | psi-mi:“MI:0915”(physical association) | 0.800 |
| GRHL1 | GRHL2 | psi-mi:“MI:0915”(physical association) | 0.800 |
| ZNF76 | FHL2 | psi-mi:“MI:0914”(association) | 0.670 |
| GRHL1 | GRHL1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| Erp44 | MEN1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF76 | GRHL1 | psi-mi:“MI:0914”(association) | 0.350 |
| GRHL1 | POLRMT | psi-mi:“MI:0914”(association) | 0.350 |
| AR | MED6 | psi-mi:“MI:2364”(proximity) | 0.270 |
| RAVER1 | KDM6A | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (9): GRHL1 (Affinity Capture-MS), GRHL1 (Affinity Capture-MS), GRHL1 (Affinity Capture-MS), GRHL1 (Two-hybrid), GRHL1 (Reconstituted Complex), GRHL1 (Proximity Label-MS), GRHL1 (Affinity Capture-MS), GRHL1 (Affinity Capture-MS), GRHL1 (Proximity Label-MS)
ESM2 similar proteins: A1L1C7, O08873, O42611, O60716, O94776, O94967, P83094, Q01826, Q0P5J8, Q15542, Q3UHE1, Q3UVG3, Q4R8N2, Q58A45, Q5EY87, Q5JSJ4, Q5M7R9, Q5R7S4, Q5RAR8, Q5TKA1, Q60611, Q640Q5, Q658Y4, Q68FH0, Q6ISB3, Q6NT76, Q6TEP1, Q80U28, Q8BIE6, Q8BJA3, Q8C092, Q8C0V0, Q8C735, Q8C8N2, Q8CGF6, Q8K5C0, Q8N9R8, Q8VI24, Q8WXG6, Q90ZY6
Diamond homologs: G5EDF0, P13002, Q12800, Q3UNW5, Q4V860, Q5EY87, Q5FWH3, Q5M7R9, Q5PPL8, Q5RAR8, Q5RB16, Q6GL65, Q6ISB3, Q6NZH6, Q7T2U9, Q811S7, Q8K5C0, Q8TE85, Q921D9, Q9ERA0, Q9NZI5, Q9NZI6, Q9NZI7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
90 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 66 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2899 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:9951842:GGA:G | donor_gain | 1.0000 |
| 2:9951843:GAG:G | donor_gain | 1.0000 |
| 2:9951849:GACAA:G | donor_gain | 1.0000 |
| 2:9951854:GTGA:G | donor_gain | 1.0000 |
| 2:9951858:G:GG | donor_gain | 1.0000 |
| 2:9953037:G:GT | donor_gain | 1.0000 |
| 2:9953037:G:T | donor_gain | 1.0000 |
| 2:9954902:A:AG | acceptor_gain | 1.0000 |
| 2:9954903:A:G | acceptor_gain | 1.0000 |
| 2:9954910:T:A | acceptor_gain | 1.0000 |
| 2:9954914:GC:G | acceptor_gain | 1.0000 |
| 2:9955099:AAGGT:A | donor_loss | 1.0000 |
| 2:9955100:AGGT:A | donor_loss | 1.0000 |
| 2:9955102:G:GA | donor_loss | 1.0000 |
| 2:9955103:T:G | donor_loss | 1.0000 |
| 2:9961145:T:TA | acceptor_gain | 1.0000 |
| 2:9961433:GGAG:G | donor_gain | 1.0000 |
| 2:9961434:GAGG:G | donor_gain | 1.0000 |
| 2:9963882:TTA:T | acceptor_loss | 1.0000 |
| 2:9963883:TAG:T | acceptor_loss | 1.0000 |
| 2:9963884:A:AG | acceptor_gain | 1.0000 |
| 2:9963884:A:C | acceptor_loss | 1.0000 |
| 2:9963884:AG:A | acceptor_gain | 1.0000 |
| 2:9963885:G:GT | acceptor_gain | 1.0000 |
| 2:9963885:GG:G | acceptor_gain | 1.0000 |
| 2:9963885:GGA:G | acceptor_gain | 1.0000 |
| 2:9963885:GGAA:G | acceptor_gain | 1.0000 |
| 2:9963885:GGAAC:G | acceptor_gain | 1.0000 |
| 2:9963995:G:GT | donor_gain | 1.0000 |
| 2:9964041:GA:G | donor_gain | 1.0000 |
AlphaMissense
4103 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:10000595:T:C | I582T | 1.000 |
| 2:10000601:T:A | V584E | 1.000 |
| 2:10000610:A:T | D587V | 1.000 |
| 2:10000630:T:G | Y594D | 1.000 |
| 2:10000648:T:C | F600L | 1.000 |
| 2:10000649:T:C | F600S | 1.000 |
| 2:10000650:C:A | F600L | 1.000 |
| 2:10000650:C:G | F600L | 1.000 |
| 2:10000694:T:C | L615P | 1.000 |
| 2:9954991:T:A | W33R | 1.000 |
| 2:9954991:T:C | W33R | 1.000 |
| 2:9954993:G:C | W33C | 1.000 |
| 2:9954993:G:T | W33C | 1.000 |
| 2:9955004:T:C | L37P | 1.000 |
| 2:9955033:G:C | A47P | 1.000 |
| 2:9955037:T:A | M48K | 1.000 |
| 2:9955037:T:C | M48T | 1.000 |
| 2:9955037:T:G | M48R | 1.000 |
| 2:9955040:T:C | M49T | 1.000 |
| 2:9955085:T:A | L64H | 1.000 |
| 2:9955085:T:C | L64P | 1.000 |
| 2:9963906:T:C | L256P | 1.000 |
| 2:9963956:T:C | Y273H | 1.000 |
| 2:9963956:T:G | Y273D | 1.000 |
| 2:9963960:T:C | L274P | 1.000 |
| 2:9963962:A:G | N275D | 1.000 |
| 2:9963964:C:A | N275K | 1.000 |
| 2:9963964:C:G | N275K | 1.000 |
| 2:9963965:A:G | K276E | 1.000 |
| 2:9963966:A:T | K276I | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000099446 (2:9952230 C>A,G), RS1000140120 (2:9954602 T>C), RS1000232093 (2:9973871 G>A,C), RS1000249529 (2:9980531 G>A,T), RS1000353356 (2:9990399 C>T), RS1000378210 (2:9974520 G>A), RS1000608833 (2:9985075 A>G), RS1000657348 (2:9996947 G>A), RS1000765683 (2:9978712 C>T), RS1000833076 (2:9962829 T>A), RS1000931254 (2:9966270 C>T), RS1000961045 (2:9966576 T>C), RS1000981027 (2:9984711 C>T), RS1000991832 (2:9950401 G>A), RS1001015554 (2:9956231 A>T)
Disease associations
OMIM: gene MIM:609786 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001942_5 | Prostate cancer | 3.000000e-08 |
| GCST004988_439 | Breast cancer | 4.000000e-10 |
| GCST008062_21 | Blood urea nitrogen levels | 1.000000e-10 |
| GCST009267_18 | Dental caries (decayed, missing and filled teeth) | 4.000000e-06 |
| GCST009268_1 | Dental caries (decayed, missing and filled tooth surfaces) | 5.000000e-06 |
| GCST011320_38 | Type 2 diabetes or prostate cancer (pleiotropy) | 4.000000e-08 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
61 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression, increases methylation | 7 |
| trichostatin A | increases expression, affects expression | 2 |
| arsenite | affects binding, decreases reaction, decreases expression, increases abundance | 2 |
| sodium arsenite | increases expression, decreases expression, increases abundance | 2 |
| perfluorooctane sulfonic acid | affects expression, decreases expression | 2 |
| Acetaminophen | increases expression | 2 |
| Calcitriol | increases expression | 2 |
| Estradiol | affects cotreatment, increases expression, decreases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| Cadmium Chloride | increases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| titanium dioxide | increases methylation | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| hydroquinone | increases expression | 1 |
| mercuric bromide | affects cotreatment, increases expression | 1 |
| pentanal | increases expression | 1 |
| antimonite | decreases expression, increases abundance | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | increases methylation | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| PCI 5002 | increases expression, affects cotreatment | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E1YL | HAP1 GRHL1 (-) 2 | Cancer cell line | Male |
| CVCL_XP36 | HAP1 GRHL1 (-) 1 | Cancer cell line | Male |
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): dental caries