HPCAL1
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Also known as BDR1HLP2VILIP-3
Summary
HPCAL1 (hippocalcin like 1, HGNC:5145) is a protein-coding gene on chromosome 2p25.1, encoding Hippocalcin-like protein 1 (P37235). May be involved in the calcium-dependent regulation of rhodopsin phosphorylation.
The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. It is highly similar to human hippocalcin protein and nearly identical to the rat and mouse hippocalcin like-1 proteins. It may be involved in the calcium-dependent regulation of rhodopsin phosphorylation and may be of relevance for neuronal signalling in the central nervous system. Several alternatively spliced transcript variants encoding the same protein have been found for this gene.
Source: NCBI Gene 3241 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 25 total
- Druggable target: yes
- MANE Select transcript:
NM_002149
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:5145 |
| Approved symbol | HPCAL1 |
| Name | hippocalcin like 1 |
| Location | 2p25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | BDR1, HLP2, VILIP-3 |
| Ensembl gene | ENSG00000115756 |
| Ensembl biotype | protein_coding |
| OMIM | 600207 |
| Entrez | 3241 |
Gene structure
Transcript identifiers
Ensembl transcripts: 99 — 98 protein_coding, 1 nonsense_mediated_decay
ENST00000307845, ENST00000381765, ENST00000419810, ENST00000422133, ENST00000423674, ENST00000613496, ENST00000620771, ENST00000622018, ENST00000904522, ENST00000904523, ENST00000904524, ENST00000904525, ENST00000904526, ENST00000904527, ENST00000904528, ENST00000904529, ENST00000904530, ENST00000904531, ENST00000904532, ENST00000904533, ENST00000904534, ENST00000904535, ENST00000904536, ENST00000904537, ENST00000904538, ENST00000904539, ENST00000904540, ENST00000904541, ENST00000904542, ENST00000904543, ENST00000904544, ENST00000904545, ENST00000904546, ENST00000904547, ENST00000904548, ENST00000904549, ENST00000904550, ENST00000904551, ENST00000904552, ENST00000904553, ENST00000904554, ENST00000904555, ENST00000904556, ENST00000904557, ENST00000904558, ENST00000904559, ENST00000904560, ENST00000904561, ENST00000904562, ENST00000904563, ENST00000904564, ENST00000904565, ENST00000904566, ENST00000904567, ENST00000904568, ENST00000904569, ENST00000904570, ENST00000904571, ENST00000904572, ENST00000904573, ENST00000904574, ENST00000904575, ENST00000904576, ENST00000904577, ENST00000926826, ENST00000926827, ENST00000926828, ENST00000926829, ENST00000959392, ENST00000959393, ENST00000959394, ENST00000959395, ENST00000959396, ENST00000959397, ENST00000959398, ENST00000959399, ENST00000959400, ENST00000959401, ENST00000959402, ENST00000959403, ENST00000959404, ENST00000959405, ENST00000959406, ENST00000959407, ENST00000959408, ENST00000959409, ENST00000959410, ENST00000959411, ENST00000959412, ENST00000959413, ENST00000959414, ENST00000959415, ENST00000959416, ENST00000959417, ENST00000959418, ENST00000959419, ENST00000959420, ENST00000959421, ENST00000959422
RefSeq mRNA: 5 — MANE Select: NM_002149
NM_001258357, NM_001258358, NM_001258359, NM_002149, NM_134421
CCDS: CCDS1671
Canonical transcript exons
ENST00000307845 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000804734 | 10419734 | 10420135 |
| ENSE00001137728 | 10396835 | 10396920 |
| ENSE00001640994 | 10422983 | 10423088 |
| ENSE00001813124 | 10302904 | 10303177 |
| ENSE00001932779 | 10426724 | 10427604 |
Expression profiles
Bgee: expression breadth ubiquitous, 289 present calls, max score 99.61.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.2851 / max 283.5447, expressed in 1808 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 18821 | 27.7799 | 1805 |
| 18822 | 1.9677 | 1072 |
| 18848 | 0.2220 | 84 |
| 18849 | 0.1311 | 41 |
| 18832 | 0.1144 | 47 |
| 18831 | 0.0560 | 28 |
| 202076 | 0.0141 | 5 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cerebellar vermis | UBERON:0004720 | 99.61 | gold quality |
| cerebellum | UBERON:0002037 | 99.41 | gold quality |
| cerebellar cortex | UBERON:0002129 | 99.41 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 99.41 | gold quality |
| paraflocculus | UBERON:0005351 | 99.41 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 99.39 | gold quality |
| frontal pole | UBERON:0002795 | 98.61 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 98.51 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 98.46 | gold quality |
| cingulate cortex | UBERON:0003027 | 98.43 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 98.43 | gold quality |
| right frontal lobe | UBERON:0002810 | 98.14 | gold quality |
| right lung | UBERON:0002167 | 98.09 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 97.95 | gold quality |
| adult organism | UBERON:0007023 | 97.71 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 97.68 | gold quality |
| hypothalamus | UBERON:0001898 | 97.56 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 97.46 | gold quality |
| frontal cortex | UBERON:0001870 | 97.39 | gold quality |
| ileal mucosa | UBERON:0000331 | 97.33 | gold quality |
| lower lobe of lung | UBERON:0008949 | 97.31 | gold quality |
| upper lobe of lung | UBERON:0008948 | 97.22 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 97.20 | gold quality |
| ventral tegmental area | UBERON:0002691 | 97.16 | gold quality |
| pons | UBERON:0000988 | 97.15 | gold quality |
| prefrontal cortex | UBERON:0000451 | 97.11 | gold quality |
| amygdala | UBERON:0001876 | 97.09 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 97.07 | gold quality |
| neocortex | UBERON:0001950 | 97.05 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 97.00 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-135922 | yes | 20.51 |
| E-GEOD-125970 | yes | 15.34 |
| E-MTAB-7606 | no | 295.44 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AP1, FOS, NRF1, PHOX2B
miRNA regulators (miRDB)
29 targeting HPCAL1, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-10393-3P | 99.72 | 66.56 | 961 |
| HSA-MIR-6801-5P | 99.72 | 66.50 | 981 |
| HSA-MIR-6861-3P | 99.60 | 68.46 | 444 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-6165 | 99.44 | 67.12 | 1389 |
| HSA-MIR-4292 | 99.16 | 65.57 | 1767 |
| HSA-MIR-6791-5P | 99.16 | 65.92 | 1844 |
| HSA-MIR-140-3P | 99.04 | 67.69 | 1324 |
| HSA-MIR-412-3P | 98.86 | 66.89 | 712 |
| HSA-MIR-6754-3P | 98.84 | 66.60 | 889 |
| HSA-MIR-6811-3P | 98.62 | 66.54 | 944 |
| HSA-MIR-6880-5P | 98.08 | 65.59 | 1282 |
| HSA-MIR-6847-5P | 97.93 | 66.74 | 1808 |
| HSA-MIR-4257 | 97.86 | 68.05 | 1190 |
| HSA-MIR-7154-3P | 97.65 | 65.02 | 985 |
| HSA-MIR-3116 | 97.07 | 65.78 | 1324 |
| HSA-MIR-874-3P | 95.02 | 65.66 | 806 |
Literature-anchored findings (GeneRIF, showing 11)
- VILIP-3 immunostaining was found to be reduced in Alzheimer brains; immunoreactive material was detected in close association with amyloid plaques and neurofibrillar tangles, typical pathologic hallmarks of AD (PMID:11173883)
- visinin-like protein-3 interacts with microsomal cytochrome b5 in a Ca2+-dependent manner (PMID:14739275)
- The interaction of human VILIP1 and VILIP3 with divalent cations was explored using circular dichroism and fluorescence measurement. (PMID:16703469)
- HPCAL1 did not appreciably influence the ability of WT PHOX2B. (PMID:23873030)
- Results show that in the presence of calcium, N-myristoylation significantly increases the kinetic rate of VILIP adsorption to the membrane. (PMID:25019684)
- Secreted HPCAL1 protein in the plasma dropped dramatically in hepatocellular carcinoma patients relative to controls. (PMID:26659654)
- The myristoylated VILIP-3 protein structure determined in this study is quite different. (PMID:27820860)
- These studies elucidate the tumour-promoting activity of HPCAL1. They also offer an innovative therapeutic strategy focusing on the HPCAL1-Wnt/b-catenin axis to regulate proliferation and development of Glioblastoma. (PMID:30843345)
- Hippocalcin-like 1 is a key regulator of LDHA activation that promotes the growth of non-small cell lung carcinoma. (PMID:35102488)
- Expressional and prognostic value of HPCAL1 in cholangiocarcinoma via integrated bioinformatics analyses and experiments. (PMID:35645147)
- Hippocalcin-Like 1 blunts liver lipid metabolism to suppress tumorigenesis via directly targeting RUVBL1-mTOR signaling. (PMID:36438486)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | hpcal1 | ENSDARG00000022763 |
| mus_musculus | Hpcal1 | ENSMUSG00000071379 |
| rattus_norvegicus | Hpcal1 | ENSRNOG00000005492 |
| drosophila_melanogaster | CG7646 | FBGN0036926 |
| drosophila_melanogaster | CG5890 | FBGN0039380 |
| caenorhabditis_elegans | ncs-2 | WBGENE00003564 |
| caenorhabditis_elegans | WBGENE00015867 |
Paralogs (14): CLXN (ENSG00000034239), GUCA1A (ENSG00000048545), NCALD (ENSG00000104490), NCS1 (ENSG00000107130), RCVRN (ENSG00000109047), GUCA1B (ENSG00000112599), KCNIP3 (ENSG00000115041), HPCAL4 (ENSG00000116983), KCNIP2 (ENSG00000120049), HPCA (ENSG00000121905), GUCA1C (ENSG00000138472), VSNL1 (ENSG00000163032), KCNIP1 (ENSG00000182132), KCNIP4 (ENSG00000185774)
Protein
Protein identifiers
Hippocalcin-like protein 1 — P37235 (reviewed: P37235)
Alternative names: Calcium-binding protein BDR-1, HLP2, Visinin-like protein 3
All UniProt accessions (5): P37235, C9JW46, E9PC71, H7BZC1, Q6FGY1
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in the calcium-dependent regulation of rhodopsin phosphorylation.
Subcellular location. Membrane.
Miscellaneous. Probably binds two or three calcium ions.
Similarity. Belongs to the recoverin family.
RefSeq proteins (5): NP_001245286, NP_001245287, NP_001245288, NP_002140, NP_602293 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002048 | EF_hand_dom | Domain |
| IPR011992 | EF-hand-dom_pair | Homologous_superfamily |
| IPR018247 | EF_Hand_1_Ca_BS | Binding_site |
| IPR028846 | Recoverin | Family |
Pfam: PF13499
UniProt features (38 total): binding site 15, helix 10, domain 4, sequence conflict 3, strand 3, initiator methionine 1, chain 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5T7C | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P37235-F1 | 87.25 | 0.66 |
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 (15): 84; 109; 111; 113; 115; 120; 157; 159; 161; 163; 168; 73 …
Post-translational modifications (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 276 (showing top):
AHRARNT_01, chr2p25, MODULE_264, RACCACAR_AML_Q6, RIZKI_TUMOR_INVASIVENESS_3D_DN, XU_HGF_SIGNALING_NOT_VIA_AKT1_48HR_UP, AMIT_EGF_RESPONSE_480_MCF10A, MODULE_120, CEBP_Q2, AML_Q6, IRF1_Q6, LASTOWSKA_COAMPLIFIED_WITH_MYCN, IRF_Q6, AACTTT_UNKNOWN, NGUYEN_NOTCH1_TARGETS_DN
GO Biological Process (1): regulation of signal transduction (GO:0009966)
GO Molecular Function (3): calcium ion binding (GO:0005509), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (1): membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| signal transduction | 1 |
| regulation of cell communication | 1 |
| regulation of signaling | 1 |
| regulation of response to stimulus | 1 |
| metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2223 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HPCAL1 | RHOA | P06749 | 610 |
| HPCAL1 | CYB5B | O43169 | 526 |
| HPCAL1 | CYB5A | P00167 | 521 |
| HPCAL1 | PHOX2B | Q99453 | 502 |
| HPCAL1 | SLC66A3 | Q8N755 | 470 |
| HPCAL1 | GUF1 | Q8N442 | 434 |
| HPCAL1 | NOL10 | Q9BSC4 | 431 |
| HPCAL1 | CPSF3 | Q9UKF6 | 430 |
| HPCAL1 | PDE6D | O43924 | 425 |
| HPCAL1 | NAIP | Q13075 | 406 |
| HPCAL1 | LRIT2 | A6NDA9 | 405 |
| HPCAL1 | NUBP2 | Q9Y5Y2 | 398 |
| HPCAL1 | EFCAB3 | Q8N7B9 | 394 |
| HPCAL1 | SCN9A | Q15858 | 393 |
| HPCAL1 | SUSD2 | Q9UGT4 | 391 |
IntAct
218 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ESR1 | ESR1 | psi-mi:“MI:0914”(association) | 0.870 |
| KRTAP10-8 | HPCAL1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRTAP10-9 | HPCAL1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| HPCAL1 | C1QTNF2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| HPCAL1 | KRTAP10-9 | psi-mi:“MI:0915”(physical association) | 0.720 |
| C1QTNF2 | HPCAL1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| HPCAL1 | KRTAP10-8 | psi-mi:“MI:0915”(physical association) | 0.720 |
| HMG20A | HPCAL1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| HPCAL1 | HMG20A | psi-mi:“MI:0915”(physical association) | 0.670 |
| HPCAL1 | DTX2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| HPCAL1 | ATXN1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| MGLL | HPCAL1 | psi-mi:“MI:0915”(physical association) | 0.640 |
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| HPCAL1 | C19orf44 | psi-mi:“MI:0915”(physical association) | 0.600 |
BioGRID (124): KRTAP5-9 (Two-hybrid), HMG20A (Two-hybrid), KRTAP4-2 (Two-hybrid), C1QTNF2 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-9 (Two-hybrid), KRTAP10-1 (Two-hybrid), KRTAP10-5 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-3 (Two-hybrid), NOTCH2NL (Two-hybrid), HPCAL1 (Affinity Capture-MS), HPCAL1 (Affinity Capture-MS), HPCAL1 (Affinity Capture-MS), HPCAL1 (Affinity Capture-MS)
ESM2 similar proteins: A9JTH1, B3DLU1, B3VSB7, B5FZ84, P29104, P29105, P35332, P36608, P37235, P37236, P42324, P42325, P61601, P61602, P62166, P62167, P62168, P62748, P62749, P62758, P62759, P62760, P62761, P62762, P62763, P62764, P84074, P84075, P84076, Q06AT0, Q06AT1, Q09711, Q16982, Q28IM6, Q4PL64, Q4R4N4, Q4R5F7, Q5PQN0, Q5R632, Q5R6S5
Diamond homologs: A9JTH1, B3DLU1, B3VSB7, B5FZ84, O73761, O73762, O73763, O95843, P21457, P22728, P25296, P29104, P29105, P31227, P34057, P35243, P35332, P36608, P36609, P37235, P37236, P42322, P42324, P42325, P43080, P43081, P46065, P51177, P61601, P61602, P62166, P62167, P62168, P62748, P62749, P62758, P62759, P62760, P62761, P62762
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 111 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 |
|---|---|---|---|
| Activation of BAD and translocation to mitochondria | 5 | 50.8× | 5e-06 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 5 | 44.8× | 6e-06 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 5 | 44.8× | 6e-06 |
| Activation of BH3-only proteins | 5 | 33.1× | 3e-05 |
| RHO GTPases activate PKNs | 5 | 21.1× | 2e-04 |
| Intrinsic Pathway for Apoptosis | 5 | 19.5× | 2e-04 |
| Translocation of SLC2A4 (GLUT4) to the plasma membrane | 7 | 14.4× | 4e-05 |
| Apoptosis | 6 | 13.4× | 2e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
25 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 18 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2569 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:10420134:AG:A | donor_loss | 1.0000 |
| 2:10420135:GG:G | donor_loss | 1.0000 |
| 2:10420136:G:T | donor_loss | 1.0000 |
| 2:10420137:T:G | donor_loss | 1.0000 |
| 2:10422982:GGCC:G | acceptor_gain | 1.0000 |
| 2:10318210:A:AG | acceptor_gain | 0.9900 |
| 2:10318211:G:GG | acceptor_gain | 0.9900 |
| 2:10420133:C:T | donor_gain | 0.9900 |
| 2:10422201:G:GA | donor_gain | 0.9900 |
| 2:10422978:C:A | acceptor_gain | 0.9900 |
| 2:10422978:CGCA:C | acceptor_loss | 0.9900 |
| 2:10422979:GCA:G | acceptor_loss | 0.9900 |
| 2:10422980:CA:C | acceptor_loss | 0.9900 |
| 2:10422981:A:AC | acceptor_loss | 0.9900 |
| 2:10422981:A:AG | acceptor_gain | 0.9900 |
| 2:10422981:AG:A | acceptor_gain | 0.9900 |
| 2:10422982:G:GT | acceptor_gain | 0.9900 |
| 2:10422982:GG:G | acceptor_gain | 0.9900 |
| 2:10422982:GGC:G | acceptor_gain | 0.9900 |
| 2:10423066:G:GT | donor_gain | 0.9900 |
| 2:10423067:C:T | donor_gain | 0.9900 |
| 2:10426718:CTGCA:C | acceptor_loss | 0.9900 |
| 2:10426719:TGCA:T | acceptor_loss | 0.9900 |
| 2:10426720:GCA:G | acceptor_loss | 0.9900 |
| 2:10426721:CA:C | acceptor_loss | 0.9900 |
| 2:10426722:A:AG | acceptor_gain | 0.9900 |
| 2:10426722:A:T | acceptor_loss | 0.9900 |
| 2:10426723:G:GG | acceptor_gain | 0.9900 |
| 2:10303175:CAGGT:C | donor_loss | 0.9800 |
| 2:10303176:AGGTA:A | donor_loss | 0.9800 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000024924 (2:10419554 TAG>T), RS1000047474 (2:10410921 C>G), RS1000048108 (2:10338826 G>T), RS1000075751 (2:10300967 C>T), RS1000086534 (2:10353608 C>T), RS1000093593 (2:10301263 C>G,T), RS1000111710 (2:10375180 C>T), RS1000121203 (2:10360575 C>A,T), RS1000137144 (2:10424193 G>A), RS1000206622 (2:10345324 C>T), RS1000220466 (2:10314417 G>A,C), RS1000229847 (2:10380891 G>A,T), RS1000300396 (2:10306949 C>T), RS1000323086 (2:10397638 G>A), RS1000329833 (2:10421860 C>G,T)
Disease associations
OMIM: gene MIM:600207 | disease phenotypes: MIM:116700
GenCC curated gene-disease
Mondo (1): cataract 13 with adult I phenotype (MONDO:0007289)
Orphanet (1): Early onset non-syndromic cataract (Orphanet:91492)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002720_5 | Kidney function decline traits | 3.000000e-06 |
| GCST005173_64 | Coronary artery calcified atherosclerotic plaque (130 HU threshold) in type 2 diabetes | 8.000000e-06 |
| GCST006482_8 | Lung function (FEV1/FVC) | 9.000000e-11 |
| GCST012485_1 | Cerebral amyloid angiopathy x sex interaction in Alzheimer’s disease | 1.000000e-07 |
| GCST012490_12 | Femur bone mineral density x serum urate levels interaction | 1.000000e-13 |
| GCST012490_464 | Femur bone mineral density x serum urate levels interaction | 6.000000e-10 |
| GCST90002401_415 | Platelet distribution width | 6.000000e-09 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004723 | coronary artery calcification |
| EFO:0004713 | FEV/FVC ratio |
| EFO:0008343 | sex interaction measurement |
| EFO:0004531 | urate measurement |
| EFO:0007984 | platelet component distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4295755 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
64 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 6 |
| Tobacco Smoke Pollution | affects expression, increases expression, increases methylation | 4 |
| sodium arsenite | decreases expression, increases abundance, increases expression | 3 |
| Cadmium Chloride | increases abundance, increases expression | 3 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 3 |
| bisphenol A | affects expression, affects cotreatment, increases methylation | 2 |
| Arsenic Trioxide | increases expression, affects cotreatment | 2 |
| Arsenic | affects methylation, decreases expression, increases abundance | 2 |
| Benzo(a)pyrene | affects methylation | 2 |
| Cisplatin | decreases expression, affects response to substance | 2 |
| Estradiol | affects cotreatment, decreases expression, affects expression | 2 |
| Tretinoin | affects cotreatment, increases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | affects methylation | 1 |
| nickel sulfate | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| desloratadine | decreases reaction, increases degradation, decreases expression, decreases myristoylation, affects response to substance | 1 |
| K 7174 | 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 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| jinfukang | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4118973 | Binding | Binding affinity to HPCAL1 in human NCI-H358 cells at 1 uM by mass spectrometry based pull down assay | Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1TT | Abcam HeLa HPCAL1 KO | Cancer cell line | Female |
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): cataract 13 with adult I phenotype, cerebral amyloid angiopathy