HIRIP3
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Summary
HIRIP3 (HIRA interacting protein 3, HGNC:4917) is a protein-coding gene on chromosome 16p11.2, encoding HIRA-interacting protein 3 (Q9BW71). Histone chaperone that carries a H2A-H2B histone complex and facilitates its deposition onto chromatin.
The HIRA protein shares sequence similarity with Hir1p and Hir2p, the two corepressors of histone gene transcription characterized in the yeast, Saccharomyces cerevisiae. The structural features of the HIRA protein suggest that it may function as part of a multiprotein complex. Several cDNAs encoding HIRA-interacting proteins, or HIRIPs, have been identified. In vitro, the protein encoded by this gene binds HIRA, as well as H2B and H3 core histones, indicating that a complex containing HIRA-HIRIP3 could function in some aspects of chromatin and histone metabolism. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.
Source: NCBI Gene 8479 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 108 total — 1 likely-pathogenic
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_003609
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4917 |
| Approved symbol | HIRIP3 |
| Name | HIRA interacting protein 3 |
| Location | 16p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000149929 |
| Ensembl biotype | protein_coding |
| OMIM | 603365 |
| Entrez | 8479 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 12 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000279392, ENST00000563053, ENST00000563680, ENST00000564026, ENST00000565996, ENST00000566471, ENST00000568880, ENST00000873668, ENST00000873669, ENST00000873670, ENST00000873671, ENST00000873672, ENST00000873673, ENST00000918288, ENST00000948388, ENST00000948389, ENST00000948390
RefSeq mRNA: 2 — MANE Select: NM_003609
NM_001197323, NM_003609
CCDS: CCDS10664, CCDS58449
Canonical transcript exons
ENST00000279392 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000993026 | 29993906 | 29994843 |
| ENSE00002608832 | 29995541 | 29995617 |
| ENSE00002628577 | 29992330 | 29993370 |
| ENSE00003546176 | 29995103 | 29995217 |
| ENSE00003603199 | 29995343 | 29995463 |
| ENSE00003626250 | 29993640 | 29993808 |
| ENSE00003668554 | 29993459 | 29993557 |
Expression profiles
Bgee: expression breadth ubiquitous, 278 present calls, max score 94.25.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.3504 / max 315.7795, expressed in 1718 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 156981 | 4.5672 | 1375 |
| 156983 | 4.5510 | 1537 |
| 156982 | 0.5175 | 316 |
| 156984 | 0.4923 | 219 |
| 156980 | 0.2224 | 86 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 94.25 | gold quality |
| left testis | UBERON:0004533 | 93.77 | gold quality |
| right testis | UBERON:0004534 | 93.58 | gold quality |
| testis | UBERON:0000473 | 91.64 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.61 | gold quality |
| ventricular zone | UBERON:0003053 | 91.47 | gold quality |
| apex of heart | UBERON:0002098 | 91.10 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 90.82 | gold quality |
| spinal cord | UBERON:0002240 | 90.07 | gold quality |
| secondary oocyte | CL:0000655 | 89.67 | gold quality |
| gastrocnemius | UBERON:0001388 | 89.59 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 89.47 | gold quality |
| embryo | UBERON:0000922 | 89.42 | gold quality |
| muscle of leg | UBERON:0001383 | 89.06 | gold quality |
| type B pancreatic cell | CL:0000169 | 88.90 | gold quality |
| gluteal muscle | UBERON:0002000 | 88.43 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 88.39 | gold quality |
| prefrontal cortex | UBERON:0000451 | 88.33 | gold quality |
| cerebellar cortex | UBERON:0002129 | 88.33 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 88.32 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 88.20 | silver quality |
| amygdala | UBERON:0001876 | 88.01 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 87.73 | gold quality |
| lower esophagus | UBERON:0013473 | 87.69 | gold quality |
| cerebellum | UBERON:0002037 | 87.68 | gold quality |
| putamen | UBERON:0001874 | 87.63 | gold quality |
| muscle organ | UBERON:0001630 | 87.60 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 87.46 | gold quality |
| heart left ventricle | UBERON:0002084 | 87.40 | gold quality |
| triceps brachii | UBERON:0001509 | 87.39 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.67 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
40 targeting HIRIP3, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-6744-5P | 99.93 | 66.82 | 748 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-1251-3P | 99.64 | 67.21 | 1408 |
| HSA-MIR-3975 | 99.62 | 65.97 | 697 |
| HSA-MIR-3136-3P | 99.57 | 66.59 | 781 |
| HSA-MIR-7155-3P | 99.57 | 66.48 | 794 |
| HSA-MIR-4276 | 99.56 | 67.66 | 2514 |
| HSA-MIR-4687-3P | 99.48 | 66.41 | 968 |
| HSA-MIR-3123 | 99.47 | 67.15 | 2693 |
| HSA-MIR-942-5P | 99.41 | 68.40 | 1977 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-4667-3P | 99.26 | 65.45 | 1608 |
| HSA-MIR-7974 | 99.24 | 65.48 | 1137 |
| HSA-MIR-7854-3P | 99.08 | 66.26 | 1117 |
| HSA-MIR-625-5P | 99.02 | 68.64 | 2031 |
| HSA-MIR-361-5P | 98.95 | 70.16 | 1340 |
| HSA-MIR-3928-5P | 98.50 | 67.48 | 980 |
| HSA-MIR-6806-3P | 98.50 | 67.31 | 980 |
| HSA-MIR-581 | 98.39 | 67.42 | 835 |
| HSA-MIR-4664-5P | 98.17 | 65.07 | 1020 |
| HSA-MIR-4443 | 98.02 | 66.25 | 1928 |
| HSA-MIR-924 | 97.78 | 66.21 | 681 |
| HSA-MIR-483-3P | 97.77 | 64.95 | 731 |
| HSA-MIR-4675 | 97.69 | 64.82 | 774 |
| HSA-MIR-4741 | 97.69 | 64.14 | 883 |
Literature-anchored findings (GeneRIF, showing 2)
- HIRIP3 can be phosphorylated in vitro by a recombinant form of the serine-threonine kinase CK2. Moreover, HIRIP3 protein was found to co-purify with a CK2 activity. (PMID:17391060)
- Identification and Characterization of HIRIP3 as a Histone H2A Chaperone. (PMID:38334665)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | hirip3 | ENSDARG00000027749 |
| mus_musculus | Hirip3 | ENSMUSG00000042606 |
| rattus_norvegicus | Hirip3 | ENSRNOG00000029061 |
Protein
Protein identifiers
HIRA-interacting protein 3 — Q9BW71 (reviewed: Q9BW71)
All UniProt accessions (1): Q9BW71
UniProt curated annotations — full annotation on UniProt →
Function. Histone chaperone that carries a H2A-H2B histone complex and facilitates its deposition onto chromatin.
Subunit / interactions. Interacts (via C-terminus) with histone H2A-H2B dimers; the interaction is direct. Interacts with HIRA. Interacts with CK2.
Subcellular location. Nucleus.
Tissue specificity. Widely expressed. Isoform 1 is predominant in skeletal muscle. Isoform 2 is predominant in liver and heart.
Post-translational modifications. Phosphorylated by CK2.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BW71-1 | 1 | yes |
| Q9BW71-2 | 2 | |
| Q9BW71-3 | 3 |
RefSeq proteins (2): NP_001184252, NP_003600* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019098 | Histone_chaperone_domain_CHZ | Domain |
| IPR037647 | HIRIP3 | Family |
Pfam: PF09649
UniProt features (50 total): modified residue 30, compositionally biased region 10, region of interest 3, splice variant 3, sequence variant 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BW71-F1 | 60.04 | 0.21 |
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 (30): 27, 84, 87, 98, 100, 125, 142, 143, 159, 160, 196, 199, 223, 227, 289, 291, 330, 332, 333, 357 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 143 (showing top):
GGAMTNNNNNTCCY_UNKNOWN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, chr16p11, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, IVANOVA_HEMATOPOIESIS_STEM_CELL_SHORT_TERM, FISCHER_DREAM_TARGETS, ACTWSNACTNY_UNKNOWN, GOCC_NUCLEOLUS, SCGGAAGY_ELK1_02, MULLIGHAN_MLL_SIGNATURE_1_UP, MGGAAGTG_GABP_B, NAKAMURA_METASTASIS_MODEL_UP, CASORELLI_ACUTE_PROMYELOCYTIC_LEUKEMIA_DN, GOBERT_OLIGODENDROCYTE_DIFFERENTIATION_UP, PEDERSEN_METASTASIS_BY_ERBB2_ISOFORM_7
GO Biological Process (1): chromatin organization (GO:0006325)
GO Molecular Function (2): H2A-H2B histone complex chaperone activity (GO:0000511), protein binding (GO:0005515)
GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nuclear lumen | 2 |
| cellular component organization | 1 |
| histone chaperone activity | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
614 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HIRIP3 | HIRA | P54198 | 816 |
| HIRIP3 | H2BC21 | Q16778 | 760 |
| HIRIP3 | SEZ6L2 | Q6UXD5 | 703 |
| HIRIP3 | DOC2A | Q14183 | 696 |
| HIRIP3 | ASPHD1 | Q5U4P2 | 688 |
| HIRIP3 | KIF22 | Q14807 | 679 |
| HIRIP3 | PAGR1 | Q9BTK6 | 676 |
| HIRIP3 | C16orf54 | Q6UWD8 | 664 |
| HIRIP3 | KCTD13 | Q8WZ19 | 643 |
| HIRIP3 | YPEL3 | P61236 | 640 |
| HIRIP3 | INO80E | Q8NBZ0 | 627 |
| HIRIP3 | TMEM219 | Q86XT9 | 605 |
| HIRIP3 | FIMP1 | Q96LL3 | 602 |
| HIRIP3 | TAOK2 | Q9UL54 | 602 |
| HIRIP3 | PPP4C | P33172 | 601 |
IntAct
47 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CSNK2A2 | EIF3J | psi-mi:“MI:0914”(association) | 0.790 |
| HIRIP3 | CSNK2B | psi-mi:“MI:0914”(association) | 0.730 |
| HIRIP3 | AMPD2 | psi-mi:“MI:0915”(physical association) | 0.710 |
| ASF1B | HAT1 | psi-mi:“MI:0914”(association) | 0.640 |
| AMPD2 | SDC2 | psi-mi:“MI:0914”(association) | 0.640 |
| CSNK2A2 | PES1 | psi-mi:“MI:0914”(association) | 0.640 |
| HIRIP3 | SGK2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HTT | HIRIP3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ENG | HIRIP3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| HIRIP3 | SRPK2 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| SRPK1 | HIRIP3 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| HIRIP3 | VDAC3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HIRIP3 | H2BC9 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HIRIP3 | H2BC12L | psi-mi:“MI:0915”(physical association) | 0.400 |
| HIRIP3 | H1-4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HIRIP3 | PDIA3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CSNK2A1 | MYO1B | psi-mi:“MI:0914”(association) | 0.350 |
| TMPO | psi-mi:“MI:0914”(association) | 0.350 | |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| HIRIP3 | H2AX | psi-mi:“MI:0914”(association) | 0.350 |
| RYBP | PIPSL | psi-mi:“MI:0914”(association) | 0.350 |
| CSNK2A2 | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| CSNK2A1 | EIF3F | psi-mi:“MI:0914”(association) | 0.350 |
| IQCB1 | PCP4L1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (117): HIRIP3 (Affinity Capture-MS), HIRIP3 (Affinity Capture-MS), HIRIP3 (Co-fractionation), RPL8 (Co-fractionation), HIRIP3 (Proximity Label-MS), HIRIP3 (Affinity Capture-MS), HIRIP3 (Affinity Capture-MS), HIRIP3 (Affinity Capture-MS), HIRIP3 (Affinity Capture-MS), HIRIP3 (Affinity Capture-MS), HIRA (Reconstituted Complex), HIRIP3 (Affinity Capture-MS), HIRIP3 (Two-hybrid), HIRIP3 (Affinity Capture-MS), HIRIP3 (Proximity Label-MS)
ESM2 similar proteins: A0P8Z5, A2AJT4, A6NNA2, A7MD48, F1LR10, O88573, P0CB65, P51825, P51826, P51827, Q14241, Q2KJH5, Q2T9Y0, Q569Z6, Q5BJ39, Q5M7V8, Q5PPJ2, Q5RD75, Q5T6C5, Q5VUA4, Q63187, Q6QZN6, Q6ZPR1, Q80WV7, Q80Z37, Q8BKA3, Q8BM65, Q8BTI8, Q8BZX4, Q8CB77, Q8K019, Q8TF01, Q93075, Q96B23, Q96IZ7, Q96RL1, Q99PP2, Q9BW71, Q9DBU6, Q9ERQ3
Diamond homologs: Q8BLH7, Q9BW71
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 49 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 |
|---|---|---|---|
| Replacement of protamines by nucleosomes in the male pronucleus | 5 | 34.9× | 5e-05 |
| Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks | 5 | 18.8× | 4e-04 |
| CHD1 and CHD2 subfamily | 5 | 13.9× | 9e-04 |
| NoRC negatively regulates rRNA expression | 5 | 13.4× | 9e-04 |
| Activation of anterior HOX genes in hindbrain development during early embryogenesis | 5 | 11.7× | 1e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| nucleosome assembly | 7 | 21.9× | 1e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
108 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 89 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1330157 | GRCh37/hg19 16p11.2(chr16:29974415-30596982)x1 | Likely pathogenic |
SpliceAI
1096 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:29993366:CCGGC:C | acceptor_gain | 1.0000 |
| 16:29993367:CGGC:C | acceptor_gain | 1.0000 |
| 16:29993367:CGGCC:C | acceptor_gain | 1.0000 |
| 16:29993368:GGC:G | acceptor_gain | 1.0000 |
| 16:29993369:GC:G | acceptor_gain | 1.0000 |
| 16:29993370:CC:C | acceptor_gain | 1.0000 |
| 16:29993371:C:CC | acceptor_gain | 1.0000 |
| 16:29993372:T:C | acceptor_loss | 1.0000 |
| 16:29993453:CCTTA:C | donor_loss | 1.0000 |
| 16:29993454:CTTA:C | donor_loss | 1.0000 |
| 16:29993455:TTACC:T | donor_loss | 1.0000 |
| 16:29993456:TA:T | donor_loss | 1.0000 |
| 16:29993457:A:AC | donor_gain | 1.0000 |
| 16:29993457:AC:A | donor_gain | 1.0000 |
| 16:29993457:ACCCG:A | donor_loss | 1.0000 |
| 16:29993458:C:CC | donor_gain | 1.0000 |
| 16:29993458:CC:C | donor_gain | 1.0000 |
| 16:29993638:AC:A | donor_gain | 1.0000 |
| 16:29993639:CC:C | donor_gain | 1.0000 |
| 16:29993639:CCCTT:C | donor_gain | 1.0000 |
| 16:29993652:G:C | donor_gain | 1.0000 |
| 16:29993657:T:TA | donor_gain | 1.0000 |
| 16:29993681:A:AC | donor_gain | 1.0000 |
| 16:29993681:AGG:A | donor_gain | 1.0000 |
| 16:29993681:AGGCG:A | donor_gain | 1.0000 |
| 16:29993682:G:C | donor_gain | 1.0000 |
| 16:29993804:CCAGC:C | acceptor_gain | 1.0000 |
| 16:29993805:CAGC:C | acceptor_gain | 1.0000 |
| 16:29993805:CAGCC:C | acceptor_gain | 1.0000 |
| 16:29993807:GC:G | acceptor_gain | 1.0000 |
AlphaMissense
3652 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:29993660:A:G | L463P | 0.998 |
| 16:29993672:A:T | L459H | 0.998 |
| 16:29993758:C:A | K430N | 0.998 |
| 16:29993758:C:G | K430N | 0.998 |
| 16:29995576:G:C | F10L | 0.997 |
| 16:29995576:G:T | F10L | 0.997 |
| 16:29995578:A:G | F10L | 0.997 |
| 16:29993672:A:G | L459P | 0.996 |
| 16:29993750:A:T | I433N | 0.996 |
| 16:29993762:A:G | L429P | 0.995 |
| 16:29993254:A:G | W542R | 0.994 |
| 16:29993254:A:T | W542R | 0.994 |
| 16:29993660:A:T | L463Q | 0.994 |
| 16:29993750:A:G | I433T | 0.994 |
| 16:29993228:G:C | S550R | 0.993 |
| 16:29993228:G:T | S550R | 0.993 |
| 16:29993230:T:G | S550R | 0.993 |
| 16:29993750:A:C | I433S | 0.993 |
| 16:29993745:C:G | A435P | 0.992 |
| 16:29993252:C:A | W542C | 0.991 |
| 16:29993252:C:G | W542C | 0.991 |
| 16:29995577:A:G | F10S | 0.991 |
| 16:29993232:A:T | I549N | 0.990 |
| 16:29993523:C:A | K481N | 0.990 |
| 16:29993523:C:G | K481N | 0.990 |
| 16:29993741:C:T | C436Y | 0.990 |
| 16:29995356:A:G | L58P | 0.990 |
| 16:29993473:A:G | I498T | 0.989 |
| 16:29993488:A:G | L493S | 0.989 |
| 16:29993645:A:G | M468T | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000638423 (16:29994476 A>G), RS1001278787 (16:29998006 A>G), RS1001640977 (16:29995506 G>A), RS1002589261 (16:29991940 C>G), RS1003059588 (16:29995361 C>T), RS1003113623 (16:29995654 T>C), RS1003367469 (16:29996125 T>A,G), RS1004591487 (16:29996288 T>C), RS1005078146 (16:29995915 G>C), RS1005673423 (16:29997093 C>T), RS1006344812 (16:29992551 G>C), RS1006397241 (16:29992198 C>G,T), RS1006591970 (16:29994094 T>C), RS1006950842 (16:29994424 C>T), RS1007271169 (16:29997702 C>T)
Disease associations
OMIM: gene MIM:603365 | disease phenotypes: MIM:613444
GenCC curated gene-disease
Mondo (1): distal 16p11.2 microdeletion syndrome (MONDO:0013267)
Orphanet (1): Distal 16p11.2 microdeletion syndrome (Orphanet:261222)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002539_82 | Schizophrenia | 5.000000e-11 |
| GCST004521_236 | Autism spectrum disorder or schizophrenia | 4.000000e-10 |
| GCST006803_23 | Schizophrenia | 6.000000e-13 |
| GCST007293_15 | Body fat distribution (arm fat ratio) | 6.000000e-06 |
| GCST007293_81 | Body fat distribution (arm fat ratio) | 4.000000e-08 |
| GCST007611_22 | Chronic obstructive pulmonary disease or high blood pressure (pleiotropy) | 7.000000e-09 |
| GCST010703_269 | Brain morphology (MOSTest) | 4.000000e-13 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004341 | body fat distribution |
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5724673 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.12 | Kd | 75 | nM | MOLIBRESIB |
| 7.05 | IC50 | 90 | nM | MOLIBRESIB |
PubChem BioAssay actives
2 with measured affinity, of 7 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2179241: Binding affinity against HIRIP3 (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | kd | 0.0750 | uM |
CTD chemical–gene interactions
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression, decreases expression, increases abundance | 3 |
| bisphenol A | affects cotreatment, increases expression, decreases expression | 2 |
| Valproic Acid | decreases expression, increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| trans-10,cis-12-conjugated linoleic acid | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Calcitriol | decreases expression, affects cotreatment | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Estradiol | increases expression | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, decreases expression, increases abundance | 1 |
| Potassium Dichromate | increases expression | 1 |
ChEMBL screening assays
7 unique, capped per target: 7 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5697735 | Binding | Inhibition of HIRIP3 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature |
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): distal 16p11.2 microdeletion syndrome