# HAO2-IT1

> Gene · canonical: https://sugi.bio/atlas/gene/HAO2-IT1/
> Atlas v1.13.0 · generated 2026-10-14T18:20:41+00:00

## Summary

**HAO2-IT1** (HAO2 intronic transcript 1, HGNC:41342) is a long non-coding RNA gene on chromosome 1p12.

**At a glance**

- **Gene type:** non-coding (lncRNA) — no protein product.
- **GTEx eGene:** eQTL in 2 tissues, sQTL in 0 (q < 0.05)




## Identifiers

### Gene identifiers

| Field | Value |
| --- | --- |
| HGNC ID | HGNC:41342 |
| Approved symbol | HAO2-IT1 |
| Name | HAO2 intronic transcript 1 |
| Location | 1p12 |
| Locus type | RNA, long non-coding |
| Status | Approved |
| Ensembl gene | ENSG00000230921 |
| Ensembl biotype | lncRNA |
| Entrez | 100874270 |
| RNAcentral | URS00005B433E — ncRNA, 311 nt, 2 organism(s) |

## Gene structure

### Transcript identifiers

**Ensembl transcripts: 1** — 1 lncRNA

**Transcript support level (Ensembl TSL; 1 = fully mRNA-supported):** TSL 5: 1

`ENST00000419144`

**RefSeq mRNA: 0**

#### Canonical transcript exons

`ENST00000419144` — 2 exons

| Exon | Start | End |
| --- | --- | --- |
| ENSE00001614027 | 119368946 | 119369008 |
| ENSE00001763846 | 119370084 | 119370331 |

### Expression profiles

**Bgee:** expression breadth **broad**, 68 present calls, max score 73.89.

**Highest expression (Bgee):** liver, lobe of liver, adrenal gland cortex, adrenal gland, monocyte.

#### Genetic regulation across tissues (GTEx eQTL / sQTL)

HAO2-IT1 is an **eGene** in GTEx v10 — its expression is genetically regulated (eQTL) in **2** tissues and its splicing (sQTL) in **0** (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant's alternative allele.

2 significant tissue × QTL associations:

| Tissue | QTL | q-value | Slope | Lead variant |
| --- | --- | --- | --- | --- |
| Liver | eqtl | 3.3e-11 | +0.59 | 1:119370216:T:G |
| Kidney Cortex | eqtl | 8.9e-03 | +0.70 | 1:119370216:T:G |

#### Top tissues by expression

68 tissues by Bgee expression score (0-100, higher = more expressed):

| Tissue | Anatomy ID | Expression score | Quality |
| --- | --- | --- | --- |
| liver | UBERON:0002107 | 73.89 | gold quality |
| right lobe of liver | UBERON:0001114 | 71.14 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 66.15 | gold quality |
| right adrenal gland | UBERON:0001233 | 65.85 | gold quality |
| adrenal gland | UBERON:0002369 | 64.61 | gold quality |
| monocyte | CL:0000576 | 64.29 | gold quality |
| left adrenal gland | UBERON:0001234 | 64.21 | gold quality |
| prefrontal cortex | UBERON:0000451 | 62.81 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 62.68 | gold quality |
| blood | UBERON:0000178 | 61.61 | gold quality |
| pancreas | UBERON:0001264 | 60.83 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 60.51 | gold quality |
| body of pancreas | UBERON:0001150 | 60.50 | gold quality |
| corpus callosum | UBERON:0002336 | 60.41 | gold quality |
| kidney | UBERON:0002113 | 58.34 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 57.88 | gold quality |
| small intestine | UBERON:0002108 | 57.54 | gold quality |
| small intestine Peyer's patch | UBERON:0003454 | 57.49 | gold quality |
| cortex of kidney | UBERON:0001225 | 56.09 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 55.33 | gold quality |
| intestine | UBERON:0000160 | 54.49 | gold quality |
| adenohypophysis | UBERON:0002196 | 54.16 | gold quality |
| multicellular organism | UBERON:0000468 | 53.76 | gold quality |
| tibial artery | UBERON:0007610 | 53.09 | gold quality |
| right ovary | UBERON:0002118 | 51.81 | gold quality |
| Ammon's horn | UBERON:0001954 | 51.63 | gold quality |
| frontal cortex | UBERON:0001870 | 51.42 | gold quality |
| thoracic aorta | UBERON:0001515 | 51.27 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 51.27 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 50.77 | gold quality |
| lung | UBERON:0002048 | 50.44 | gold quality |
| spleen | UBERON:0002106 | 50.41 | gold quality |
| substantia nigra | UBERON:0002038 | 50.02 | gold quality |
| esophagus mucosa | UBERON:0002469 | 49.97 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 49.88 | gold quality |
| stomach | UBERON:0000945 | 49.77 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 49.70 | gold quality |
| right frontal lobe | UBERON:0002810 | 49.68 | gold quality |
| brain | UBERON:0000955 | 49.41 | gold quality |
| ascending aorta | UBERON:0001496 | 49.36 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 49.14 | gold quality |
| rectum | UBERON:0001052 | 49.10 | gold quality |
| body of stomach | UBERON:0001161 | 49.08 | gold quality |
| heart | UBERON:0000948 | 48.67 | gold quality |
| putamen | UBERON:0001874 | 48.29 | gold quality |
| prostate gland | UBERON:0002367 | 48.25 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 48.13 | gold quality |
| amygdala | UBERON:0001876 | 47.98 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 47.98 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 47.41 | gold quality |
| skin of abdomen | UBERON:0001416 | 47.07 | gold quality |
| hypothalamus | UBERON:0001898 | 47.05 | gold quality |
| omental fat pad | UBERON:0010414 | 47.01 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 46.88 | gold quality |
| left ovary | UBERON:0002119 | 46.81 | gold quality |
| nucleus accumbens | UBERON:0001882 | 45.90 | gold quality |
| transverse colon | UBERON:0001157 | 45.72 | gold quality |
| skin of leg | UBERON:0001511 | 45.35 | gold quality |
| caudate nucleus | UBERON:0001873 | 44.96 | gold quality |
| right lung | UBERON:0002167 | 44.78 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 43.70 | gold quality |
| pituitary gland | UBERON:0000007 | 43.58 | gold quality |
| tibial nerve | UBERON:0001323 | 42.85 | silver quality |
| right atrium auricular region | UBERON:0006631 | 42.30 | silver quality |
| vagina | UBERON:0000996 | 42.26 | silver quality |
| left lobe of thyroid gland | UBERON:0001120 | 42.11 | silver quality |
| metanephros cortex | UBERON:0010533 | 39.77 | silver quality |
| left testis | UBERON:0004533 | 26.61 | silver quality |

#### Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

| Experiment | Marker? | Max mean expression |
| --- | --- | --- |
| [E-ANND-3](https://www.ebi.ac.uk/gxa/sc/experiments/E-ANND-3) | no | 1.63 |

### Regulation

**Is transcription factor: no**

### Cross-species orthologs

**0 orthologs**

### Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

| Symbol | Type | Entrez |
| --- | --- | --- |
| [WARS2](/atlas/gene/WARS2/) | protein-coding | 10352 |
| [LINC01780](/atlas/gene/LINC01780/) | ncRNA | 105378934 |
| [HAO2](/atlas/gene/HAO2/) | protein-coding | 51179 |
| [WARS2-AS1](/atlas/gene/WARS2-AS1/) | ncRNA | 101929147 |
| [HSD3B2](/atlas/gene/HSD3B2/) | protein-coding | 3284 |

## Protein

*Non-coding RNA — no protein product.*

## Function

### Gene-set membership (MSigDB)

This non-coding RNA is a member of 3 curated MSigDB gene sets — regulatory-target and signature collections that include it (it has no protein-based pathway / GO / interaction data).

`chr1p12`, `MAFG_TARGET_GENES`, `CARRILLOREIXACH_HEPATOBLASTOMA_VS_NORMAL_DN`

### ncRNA interactions

Experimentally supported non-coding-RNA interaction partners (NPInter).

2 interaction partners:

| Partner | Partner type | Level | Source |
| --- | --- | --- | --- |
| [FBL](/atlas/gene/FBL/) | protein | RNA-Protein | GSE77027 |
| [KHDRBS2](/atlas/gene/KHDRBS2/) | protein | RNA-Protein | High-throughput data |

## Disease & clinical

*No curated disease, variant, or cancer-driver associations.*

## Drugs & pharmacology

### ncRNA–drug associations

Curated non-coding-RNA → drug associations (drug response / resistance / target).

1 ncRNA–drug associations:

| Drug | Relation | Effect | Condition |
| --- | --- | --- | --- |
| [Gemcitabine](/atlas/drug/gemcitabine/) | drug_resistance | sensitive | cell line (SNU-245) |

## Related Atlas pages

- **Associated drugs (ncRNA: response / resistance):** [Gemcitabine](/atlas/drug/gemcitabine/)
