HILPDA
protein-codinghypoxia inducible lipid droplet associated
Gene summary
Enables signaling receptor binding activity. Involved in several processes, including autocrine signaling; cellular response to hypoxia; and positive regulation of lipid storage. Located in several cellular components, including lipid droplet; obsolete extracellular space; and secretory granule. Implicated in colorectal cancer and hepatocellular carcinoma. Biomarker of colorectal cancer and hepatocellular carcinoma. [provided by Alliance of Genome Resources, Jun 2026]
- C7orf68
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~2.6 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to HILPDA variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_013332.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 8 | 2 | 10 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 8 | 2 | 0 | 10 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_037464.1 | 1 | MANE Select | |
| Ensembl | ENSP00000257696.4 | 1 | MANE Select | |
| RefSeq | NP_001092256.1 | 1 | Standard | |
| Ensembl | ENSP00000388871.2 | 1 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Vitamin D Receptor Pathway
- Lipid Metabolism Pathway
- Metabolism of lipids
- Metabolism
- Lipid particle organization
Biological Process
- positive regulation of cytokine production
- positive regulation of cell population proliferation
- positive regulation of lipid storage
- lipid droplet organization
- autocrine signaling
Molecular Function
- signaling receptor binding
- protein binding
Cellular Component
- extracellular space
- nucleoplasm
- lipid droplet
- cytosol
- cell surface
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000257696
- Coding exons
- 1
- Length
- 2570
- Individuals with no LoFs
- 125700
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 1
- Defined
- 125701
- p
- 0.00000398
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.273 | 29 | 33.4 | 0.867 | 0.00000158 | 395 |
| Missense (PolyPhen) | 3 | 5.7999 | 0.51725 | 72 | ||
| Synonymous | -0.607 | 19 | 15.9 | 1.19 | 8.36e-7 | 142 |
| Loss of Function | 0.531 | 0 | 0.328 | 0.00 | 1.32e-8 | 6 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0 | 0.0 | absent |
| South Asian | 0.000033 | 0.000033 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Increases intracellular lipid accumulation. Stimulates expression of cytokines including IL6, MIF and VEGFA. Enhances cell growth and proliferation. {ECO:0000269|PubMed:15930302, ECO:0000269|PubMed:20624928}.;
Intolerance Scores
- RVIS EVS
- 0.46
- RVIS percentile EVS
- 78.16
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.114
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |