# ASB13

> Gene · canonical: https://sugi.bio/atlas/gene/ASB13/
> Atlas v1.12.2 · generated 2026-10-13T13:32:47+00:00

## Summary

**ASB13** (ankyrin repeat and SOCS box containing 13, HGNC:19765) is a protein-coding gene on chromosome 10p15.1, encoding **Ankyrin repeat and SOCS box protein 13** (Q8WXK3). May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants, both protein-coding and not protein-coding, have been described for this gene.

*Source: [NCBI Gene 79754](https://www.ncbi.nlm.nih.gov/gene/79754) — RefSeq curated summary.*

**At a glance**

- **GWAS associations:** 4
- **Clinical variants (ClinVar):** 64 total
- **GTEx eGene:** eQTL in 34 tissues, sQTL in 11 (q < 0.05)
- **Constraint (gnomAD):** pLI 0.00 (LoF-tolerant), LOEUF 1.69 (unconstrained)
- **MANE Select transcript:** `NM_024701`
- **Notable:** 64 clinical variants but no curated precision-oncology (CIViC) evidence yet




## Identifiers

### Gene identifiers

| Field | Value |
| --- | --- |
| HGNC ID | HGNC:19765 |
| Approved symbol | ASB13 |
| Name | ankyrin repeat and SOCS box containing 13 |
| Location | 10p15.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ13134, MGC19879 |
| Ensembl gene | ENSG00000196372 |
| Ensembl biotype | protein_coding |
| OMIM | 615055 |
| Entrez | 79754 |

## Gene structure

### Transcript identifiers

**Ensembl transcripts: 20** — 9 nonsense_mediated_decay, 8 protein_coding, 3 protein_coding_CDS_not_defined

**MANE Select:** `ENST00000357700`

**Transcript support level (Ensembl TSL; 1 = fully mRNA-supported):** TSL 1: 2, TSL 2: 1, TSL 3: 2

`ENST00000357700`, `ENST00000459912`, `ENST00000479033`, `ENST00000482921`, `ENST00000493897`, `ENST00000904595`, `ENST00000955064`, `ENST00000955065`, `ENST00000979364`, `ENST00000979365`, `ENST00001015216`, `ENST00001015218`, `ENST00001015220`, `ENST00001076887`, `ENST00001117980`, `ENST00001122603`, `ENST00001122604`, `ENST00001122605`, `ENST00001129997`, `ENST00001141518`

**RefSeq mRNA: 1** — MANE Select: `NM_024701`
`NM_024701`

**CCDS:** `CCDS7070`

#### Canonical transcript exons

`ENST00000357700` — 6 exons

| Exon | Start | End |
| --- | --- | --- |
| ENSE00003426984 | 5651213 | 5651363 |
| ENSE00003624803 | 5652863 | 5653050 |
| ENSE00003657370 | 5648970 | 5649104 |
| ENSE00003676099 | 5638867 | 5640830 |
| ENSE00003690841 | 5641770 | 5641961 |
| ENSE00003850147 | 5666509 | 5666595 |

### Expression profiles

**Bgee:** expression breadth **ubiquitous**, 267 present calls, max score 96.15.

**FANTOM5 (CAGE):** breadth **ubiquitous**, TPM avg 4.9745 / max 67.2934, expressed in 1601 samples.

**Highest expression (Bgee):** pigmented layer of retina, lobe of liver, nephron tubule, mucosa of transverse colon, lateral nuclear group of thalamus.

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

ASB13 is an **eGene** in GTEx v10 — its expression is genetically regulated (eQTL) in **34** tissues and its splicing (sQTL) in **11** (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant's alternative allele.

showing 20 of 45 significant tissue × QTL associations:

| Tissue | QTL | q-value | Slope | Lead variant |
| --- | --- | --- | --- | --- |
| Brain Cortex | sqtl | 8.7e-19 | -1.13 | 10:5664974:A:T |
| Adipose Subcutaneous | eqtl | 2.1e-17 | -0.31 | 10:5652203:G:A |
| Artery Aorta | eqtl | 5.2e-16 | -0.26 | 10:5632795:T:A |
| Nerve Tibial | eqtl | 3.3e-15 | -0.34 | 10:5652203:G:A |
| Brain Frontal Cortex BA9 | eqtl | 8.5e-14 | +0.38 | 10:5664974:A:T |
| Brain Cortex | eqtl | 8.2e-12 | +0.32 | 10:5666114:G:T |
| Brain Cerebellar Hemisphere | sqtl | 1.5e-10 | -0.97 | 10:5664974:A:T |
| Brain Frontal Cortex BA9 | sqtl | 2.4e-10 | -0.96 | 10:5666114:G:T |
| Testis | sqtl | 3.8e-10 | +0.59 | 10:5646832:A:G |
| Artery Tibial | eqtl | 1.6e-09 | -0.31 | 10:5639069:G:A |
| Cells Cultured fibroblasts | eqtl | 1.2e-08 | -0.32 | 10:5639069:G:A |
| Skin Sun Exposed Lower leg | eqtl | 3.2e-07 | -0.22 | 10:5652203:G:A |
| Brain Cerebellum | sqtl | 4.9e-07 | -0.87 | 10:5668901:C:A |
| Brain Spinal cord cervical c-1 | eqtl | 7.1e-07 | +0.41 | 10:5611487:A:G |
| Heart Left Ventricle | eqtl | 2.4e-06 | -0.28 | 10:5666006:C:T |
| Brain Caudate basal ganglia | eqtl | 4.2e-06 | +0.47 | 10:5645150:C:T |
| Whole Blood | eqtl | 6.9e-06 | +0.12 | 10:5662742:A:AG |
| Esophagus Mucosa | eqtl | 1.2e-05 | +0.17 | 10:5662947:G:T |
| Thyroid | eqtl | 1.3e-05 | -0.17 | 10:5631565:G:A |
| Brain Cerebellum | eqtl | 1.4e-05 | +0.32 | 10:5659659:AC:A |

#### FANTOM5 promoters

3 alternative TSS:

| Promoter ID | TPM avg | Samples expressed |
| --- | --- | --- |
| 108107 | 2.8710 | 1350 |
| 108108 | 2.0699 | 1209 |
| 205715 | 0.0336 | 10 |

#### Top tissues by expression

showing 100 of 283 tissues by Bgee expression score (0-100, higher = more expressed):

| Tissue | Anatomy ID | Expression score | Quality |
| --- | --- | --- | --- |
| pigmented layer of retina | UBERON:0001782 | 96.15 | gold quality |
| right lobe of liver | UBERON:0001114 | 94.17 | gold quality |
| nephron tubule | UBERON:0001231 | 93.78 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 92.92 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 92.32 | gold quality |
| metanephros cortex | UBERON:0010533 | 91.43 | gold quality |
| kidney epithelium | UBERON:0004819 | 91.13 | gold quality |
| mucosa of stomach | UBERON:0001199 | 90.53 | gold quality |
| primary visual cortex | UBERON:0002436 | 90.29 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 90.28 | gold quality |
| liver | UBERON:0002107 | 90.23 | gold quality |
| cortex of kidney | UBERON:0001225 | 90.00 | gold quality |
| tibia | UBERON:0000979 | 89.96 | gold quality |
| duodenum | UBERON:0002114 | 89.86 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 89.75 | gold quality |
| left adrenal gland | UBERON:0001234 | 89.69 | gold quality |
| gingival epithelium | UBERON:0001949 | 89.68 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 89.61 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 89.48 | gold quality |
| right adrenal gland | UBERON:0001233 | 89.43 | gold quality |
| adrenal cortex | UBERON:0001235 | 89.37 | gold quality |
| metanephros | UBERON:0000081 | 89.15 | gold quality |
| renal glomerulus | UBERON:0000074 | 88.99 | gold quality |
| adrenal gland | UBERON:0002369 | 88.73 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 88.47 | gold quality |
| kidney | UBERON:0002113 | 88.41 | gold quality |
| small intestine Peyer's patch | UBERON:0003454 | 88.10 | gold quality |
| right frontal lobe | UBERON:0002810 | 88.01 | gold quality |
| occipital lobe | UBERON:0002021 | 87.89 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 87.81 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 87.78 | gold quality |
| cerebellar cortex | UBERON:0002129 | 87.77 | gold quality |
| prefrontal cortex | UBERON:0000451 | 87.73 | gold quality |
| small intestine | UBERON:0002108 | 87.59 | gold quality |
| renal medulla | UBERON:0000362 | 87.48 | gold quality |
| cerebellum | UBERON:0002037 | 87.09 | gold quality |
| lymph node | UBERON:0000029 | 87.02 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 87.01 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 86.93 | silver quality |
| middle temporal gyrus | UBERON:0002771 | 86.87 | gold quality |
| transverse colon | UBERON:0001157 | 86.85 | gold quality |
| pancreatic ductal cell | CL:0002079 | 86.37 | gold quality |
| frontal cortex | UBERON:0001870 | 86.31 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 86.25 | gold quality |
| cingulate cortex | UBERON:0003027 | 86.21 | gold quality |
| endothelial cell | CL:0000115 | 86.20 | silver quality |
| neocortex | UBERON:0001950 | 86.19 | gold quality |
| apex of heart | UBERON:0002098 | 86.13 | gold quality |
| squamous epithelium | UBERON:0006914 | 86.06 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 85.92 | gold quality |
| left coronary artery | UBERON:0001626 | 85.85 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 85.83 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 85.73 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 85.69 | gold quality |
| gingiva | UBERON:0001828 | 85.68 | gold quality |
| coronary artery | UBERON:0001621 | 85.37 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 85.34 | silver quality |
| jejunal mucosa | UBERON:0000399 | 85.08 | gold quality |
| right uterine tube | UBERON:0001302 | 85.08 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 85.00 | gold quality |
| cerebral cortex | UBERON:0000956 | 84.94 | gold quality |
| visceral pleura | UBERON:0002401 | 84.88 | gold quality |
| amygdala | UBERON:0001876 | 84.83 | gold quality |
| intestine | UBERON:0000160 | 84.75 | gold quality |
| ileal mucosa | UBERON:0000331 | 84.65 | gold quality |
| putamen | UBERON:0001874 | 84.64 | gold quality |
| left uterine tube | UBERON:0001303 | 84.61 | gold quality |
| right ovary | UBERON:0002118 | 84.60 | gold quality |
| pleura | UBERON:0000977 | 84.53 | gold quality |
| adult organism | UBERON:0007023 | 84.43 | gold quality |
| parietal pleura | UBERON:0002400 | 84.41 | gold quality |
| gastrocnemius | UBERON:0001388 | 84.40 | gold quality |
| skin of leg | UBERON:0001511 | 84.39 | gold quality |
| colon | UBERON:0001155 | 84.29 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 84.29 | gold quality |
| cerebellar vermis | UBERON:0004720 | 84.27 | gold quality |
| thoracic aorta | UBERON:0001515 | 84.24 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 84.12 | gold quality |
| telencephalon | UBERON:0001893 | 84.10 | gold quality |
| aorta | UBERON:0000947 | 84.09 | gold quality |
| large intestine | UBERON:0000059 | 84.07 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 84.06 | gold quality |
| lower esophagus | UBERON:0013473 | 84.05 | gold quality |
| brain | UBERON:0000955 | 84.02 | gold quality |
| muscle of leg | UBERON:0001383 | 84.02 | gold quality |
| rectum | UBERON:0001052 | 84.01 | gold quality |
| ascending aorta | UBERON:0001496 | 84.01 | gold quality |
| popliteal artery | UBERON:0002250 | 84.01 | gold quality |
| tibial artery | UBERON:0007610 | 84.00 | gold quality |
| corpus epididymis | UBERON:0004359 | 83.90 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 83.88 | gold quality |
| forebrain | UBERON:0001890 | 83.87 | gold quality |
| left ovary | UBERON:0002119 | 83.69 | gold quality |
| skin of hip | UBERON:0001554 | 83.60 | gold quality |
| spinal cord | UBERON:0002240 | 83.50 | gold quality |
| adrenal tissue | UBERON:0018303 | 83.49 | gold quality |
| endocervix | UBERON:0000458 | 83.41 | gold quality |
| caput epididymis | UBERON:0004358 | 83.41 | gold quality |
| hypothalamus | UBERON:0001898 | 83.39 | gold quality |
| substantia nigra | UBERON:0002038 | 83.35 | gold quality |

#### Single-cell (SCXA)

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

| Experiment | Marker? | Max mean expression |
| --- | --- | --- |
| [E-ANND-3](https://www.ebi.ac.uk/gxa/sc/experiments/E-ANND-3) | yes | 6.16 |

#### HPA expression

RNA tissue specificity: **Low tissue specificity**

showing 60 of 78 HPA tissues / cells by nTPM:

| Tissue / cell | Axis | nTPM | Protein (IHC) |
| --- | --- | --- | --- |
| Cerebral cortex | tissue | 37.6 | low |
| Somatosensory cortex | tissue | 37.6 |  |
| Occipital cortex | tissue | 36.9 |  |
| Superior colliculi | tissue | 26.2 |  |
| Temporal cortex | tissue | 24.7 |  |
| Hippocampal formation | tissue | 24.1 |  |
| Entorhinal cortex | tissue | 24.1 |  |
| Duodenum | tissue | 24.0 | medium |
| Motor cortex | tissue | 23.9 |  |
| Small intestine | tissue | 23.9 | medium |
| Retrosplenial and cingulate cortex | tissue | 23.0 |  |
| Frontal cortex | tissue | 22.8 |  |
| Thalamus | tissue | 22.1 |  |
| Prefrontal cortex | tissue | 21.5 |  |
| Retrosplenial cortex | tissue | 20.1 |  |
| Kidney | tissue | 19.9 | medium |
| Insular cortex | tissue | 19.9 |  |
| Liver | tissue | 19.7 | not detected |
| Pons | tissue | 18.4 |  |
| Cerebellum | tissue | 17.8 | medium |
| Midbrain | tissue | 17.6 |  |
| Choroid plexus | tissue | 17.5 |  |
| Medulla oblongata | tissue | 17.2 |  |
| Postcentral gyrus | tissue | 17.2 |  |
| Lymph node | tissue | 17.0 | medium |
| Ventral forebrain | tissue | 15.4 |  |
| Olfactory bulb | tissue | 15.2 |  |
| Amygdala | tissue | 15.1 |  |
| Caudate putamen | tissue | 14.8 |  |
| Putamen | tissue | 14.5 |  |
| Ovary | tissue | 14.0 | low |
| Basal ganglia | tissue | 13.9 | low |
| Septum | tissue | 13.7 |  |
| Locus coeruleus | tissue | 13.5 |  |
| Hypothalamus | tissue | 13.3 |  |
| Substantia nigra | tissue | 13.1 |  |
| Periaqueductal gray | tissue | 12.4 |  |
| Tonsil | tissue | 12.1 | medium |
| Fallopian tube | tissue | 12.0 | medium |
| Hippocampus | tissue | 11.9 | not detected |
| Adrenal gland | tissue | 11.8 | not detected |
| Colon | tissue | 11.5 | medium |
| Spinal cord | tissue | 11.4 |  |
| Nucleus accumbens | tissue | 11.0 |  |
| Skeletal muscle | tissue | 10.5 | low |
| Breast | tissue | 9.7 | medium |
| Tongue | tissue | 9.4 |  |
| Pancreas | tissue | 9.2 | low |
| Vagina | tissue | 8.6 | medium |
| Heart muscle | tissue | 8.4 | low |
| Pituitary gland | tissue | 8.0 |  |
| Spleen | tissue | 7.9 | low |
| Adipose tissue | tissue | 7.8 | low |
| Esophagus | tissue | 7.8 | medium |
| Stomach 1 | tissue | 7.7 | medium |
| Urinary bladder | tissue | 7.2 | medium |
| Gallbladder | tissue | 7.2 | medium |
| Skin 1 | tissue | 6.8 | low |
| Appendix | tissue | 6.8 | medium |
| Cervix | tissue | 6.7 | medium |

**Brain sub-regions (HPA Brain Atlas):** detected in 191; highest nTPM — Ventral posterolateral thalamic nucleus (23.7), Lateral geniculate body (23.5), Ventral hippocampus (22.5), Pulvinar (22.3), Centromedial thalamic nucleus (20.9).

### Regulation

**Is transcription factor: no**

#### miRNA regulators (miRDB)

Targeting ASB13 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 68 miRNAs:

| miRNA | Max score | Avg score | miRNA target_count |
| --- | --- | --- | --- |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-302A-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302B-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302C-3P | 99.89 | 71.20 | 1778 |
| HSA-MIR-302D-3P | 99.89 | 71.25 | 1777 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| HSA-MIR-3151-5P | 99.86 | 63.83 | 1069 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-373-3P | 99.84 | 70.68 | 1668 |
| HSA-MIR-520E-3P | 99.84 | 70.55 | 1698 |
| HSA-MIR-372-3P | 99.83 | 70.58 | 1691 |
| HSA-MIR-520A-3P | 99.83 | 70.59 | 1687 |
| HSA-MIR-520B-3P | 99.83 | 70.56 | 1699 |
| HSA-MIR-520C-3P | 99.83 | 70.56 | 1699 |
| HSA-MIR-520D-3P | 99.83 | 70.78 | 1676 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-670-5P | 99.67 | 69.94 | 1565 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-4472 | 99.56 | 66.08 | 1478 |
| HSA-MIR-3120-3P | 99.54 | 70.28 | 2669 |

### Functional genomics

**gnomAD constraint:** pLI 4.43e-14, LOEUF 1.69, missense Z -0.779 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). [gnomAD](https://gnomad.broadinstitute.org/)

**Regional missense constraint (gnomAD RMC):** no regional variation along `ENST00000357700` — one region, missense o/e 1.06.

### Cross-species orthologs

**5 orthologs**

| Organism | Symbol | Gene ID |
| --- | --- | --- |
| danio_rerio | asb13a.2 | ENSDARG00000045765 |
| danio_rerio | asb13a.1 | ENSDARG00000079698 |
| danio_rerio | asb13b | ENSDARG00000089833 |
| mus_musculus | Asb13 | ENSMUSG00000033781 |
| rattus_norvegicus | Asb13 | ENSRNOG00000017967 |

#### Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara's model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions' gene symbols aren't in biobtree yet, so each row shows the UniProt accession.

| Organism | UniProt | Identity | Method |
| --- | --- | --- | --- |
| Pongo abelii | [Q5RFS1](https://www.uniprot.org/uniprotkb/Q5RFS1/entry) | 99.4% | Diamond |
| Oryctolagus cuniculus | [Q862Z2](https://www.uniprot.org/uniprotkb/Q862Z2/entry) | 94.8% | Diamond |
| Bos taurus | [Q17QS6](https://www.uniprot.org/uniprotkb/Q17QS6/entry) | 92.1% | Diamond |

### 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 |
| --- | --- | --- |
| [TRV-TAC3-1](/atlas/gene/TRV-TAC3-1/) | tRNA | 100189342 |
| [GDI2](/atlas/gene/GDI2/) | protein-coding | 2665 |
| [TASOR2](/atlas/gene/TASOR2/) | protein-coding | 54906 |
| [LASTR](/atlas/gene/LASTR/) | ncRNA | 105376382 |
| [LINC02678](/atlas/gene/LINC02678/) | ncRNA | 105376383 |
| [LINC02677](/atlas/gene/LINC02677/) | ncRNA | 102723629 |
| [ANKRD16](/atlas/gene/ANKRD16/) | protein-coding | 54522 |

<a id="protein-Q8WXK3"></a>

## Protein

### Protein identifiers

**Ankyrin repeat and SOCS box protein 13** — `Q8WXK3` (reviewed: Q8WXK3)

**All UniProt accessions (1):** `Q8WXK3`

#### UniProt curated annotations — [full annotation on UniProt →](https://www.uniprot.org/uniprotkb/Q8WXK3/entry)

**Function.** May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

**Domain organisation.** The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin-protein ligase complexes.

**Pathway.** Protein modification; protein ubiquitination.

**Similarity.** Belongs to the ankyrin SOCS box (ASB) family.

#### Isoforms (2)

| UniProt ID | Names | Canonical? |
| --- | --- | --- |
| Q8WXK3-1 | 1 | yes |
| Q8WXK3-2 | 2 |  |

**RefSeq proteins (1):** `NP_078977`*  (*=MANE)

#### Domains & families (InterPro)

| ID | Name | Type |
| --- | --- | --- |
| IPR001496 | SOCS_box | Domain |
| IPR002110 | Ankyrin_rpt | Repeat |
| IPR036036 | SOCS_box-like_dom_sf | Homologous_superfamily |
| IPR036770 | Ankyrin_rpt-contain_sf | Homologous_superfamily |
| IPR037334 | ASB13_SOCS | Domain |
| IPR051573 | Ankyrin-SOCS_box_domain | Family |

**Pfam:** `PF07525`, `PF12796`, `PF13637`

**UniProt features (12 total):** repeat 6, sequence conflict 2, splice variant 2, chain 1, domain 1

### Structure

#### Predicted structure (AlphaFold)

| Model | pLDDT | Fraction very-high |
| --- | --- | --- |
| AF-Q8WXK3-F1 | 91.60 | 0.85 |

### Human Protein Atlas

**Protein class:** Predicted intracellular proteins

**Protein evidence:** Evidence at protein level

**Subcellular location (HPA, imaging):** golgi apparatus; nucleoplasm

**Antibody reliability (HPA):** IH approved · IF approved

## Function

### Pathways and Gene Ontology

#### Reactome pathways

**2 curated (TAS)** of 7; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

7 pathways:

| ID | Pathway | Evidence |
| --- | --- | --- |
| R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation | curated |
| R-HSA-8951664 | Neddylation | curated |
| R-HSA-1280218 | Adaptive Immune System | — |
| R-HSA-983169 | Class I MHC mediated antigen processing & presentation | — |
| R-HSA-168256 | Immune System | — |
| R-HSA-392499 | Metabolism of proteins | — |
| R-HSA-597592 | Post-translational protein modification | — |

**MSigDB gene sets: 161** (showing top):
`GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN`, `MODULE_169`, `REACTOME_ADAPTIVE_IMMUNE_SYSTEM`, `REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION`, `REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION`, `FOSTER_TOLERANT_MACROPHAGE_UP`, `SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP`, `GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION`, `GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS`, `chr10p15`, `PARENT_MTOR_SIGNALING_UP`, `GRYDER_PAX3FOXO1_TOP_ENHANCERS`, `RIGGINS_TAMOXIFEN_RESISTANCE_UP`, `MODULE_456`, `REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION`

**GO Biological Process (2):**
protein ubiquitination (GO:0016567), intracellular signal transduction (GO:0035556)

**GO Molecular Function (1):**
protein binding (GO:0005515)

**GO Cellular Component (1):**
cytosol (GO:0005829)

#### Reactome top-level categories

5 top-level categories:

| Category | Pathways |
| --- | --- |
| Post-translational protein modification | 1 |
| Class I MHC mediated antigen processing & presentation | 1 |
| Immune System | 1 |
| Metabolism of proteins | 1 |
| Adaptive Immune System | 1 |

#### GO top-level categories

6 GO namespaces:

| Category | Terms |
| --- | --- |
| protein modification by small protein conjugation | 1 |
| intracellular anatomical structure | 1 |
| signal transduction | 1 |
| binding | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |

### Protein interactions and networks

#### STRING

showing 15 of 666 interactions by confidence (×1000):

| Protein A | Protein B | Partner UniProt | Score |
| --- | --- | --- | --- |
| ASB13 | LRRC41 | Q15345 | 455 |
| ASB13 | PSMG4 | Q5JS54 | 439 |
| ASB13 | KLHL42 | Q9P2K6 | 436 |
| ASB13 | PSMG2 | Q969U7 | 432 |
| ASB13 | TASOR2 | Q5VWN6 | 403 |
| ASB13 | DNPEP | Q9ULA0 | 394 |
| ASB13 | WDR55 | Q9H6Y2 | 390 |
| ASB13 | RSPO4 | Q2I0M5 | 387 |
| ASB13 | PCDHGB4 | Q9UN71 | 379 |
| ASB13 | SERPINA9 | Q86WD7 | 377 |
| ASB13 | ASB6 | Q9NWX5 | 368 |
| ASB13 | PSME3 | P61289 | 366 |
| ASB13 | UFL1 | O94874 | 366 |
| ASB13 | UBE2J1 | Q9Y385 | 366 |
| ASB13 | XPNPEP3 | Q9NQH7 | 365 |

#### IntAct

Human interaction partners of ASB13 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

19 partners by confidence:

| Partner | Interaction type | MIscore | Records |
| --- | --- | --- | --- |
| VAC14 | physical association | 0.670 | 6 |
| HIF1AN | association | 0.660 | 2 |
| ATXN1 | physical association | 0.560 | 6 |
| DMWD | physical association | 0.560 | 3 |
| KLF11 | physical association | 0.560 | 3 |
| PANK2 | physical association | 0.560 | 3 |
| PRKN | physical association | 0.560 | 3 |
| RNF11 | physical association | 0.560 | 3 |
| SNCA | physical association | 0.560 | 3 |
| SPRED1 | physical association | 0.560 | 3 |
| TARDBP | physical association | 0.560 | 3 |
| VHL | physical association | 0.560 | 3 |
| ZMIZ2 | physical association | 0.560 | 3 |
| NUDT3 | physical association | 0.550 | 2 |
| MARK3 | physical association | 0.510 | 2 |
| DUSP23 | physical association | 0.370 | 1 |
| TRIP13 | physical association | 0.370 | 1 |
| NPRL3 | association | 0.350 | 1 |
| DNM1 | physical association | 0.000 | 1 |

**BioGRID (47 interactions; top human partners by supporting records):** CUL5 (Affinity Capture-MS; 6 records), HIF1AN (Two-hybrid; 3 records), VAC14 (Two-hybrid; 3 records), NUDT3 (Two-hybrid; 2 records), RNF7 (Affinity Capture-MS; 2 records), TCEB2 (Affinity Capture-MS; 2 records), TRIP13 (Two-hybrid; 2 records), AMBRA1 (Affinity Capture-MS), ASB9 (Two-hybrid), CCT8 (Affinity Capture-MS), CUL3 (Affinity Capture-MS), DDX58 (Affinity Capture-RNA), DNM1 (Two-hybrid), DUSP23 (Two-hybrid), HAPLN2 (Two-hybrid)

## Disease & clinical

### Genetic variants

**Variant evidence for ASB13:** [64 ClinVar records](#clinvar) (0 pathogenic / likely pathogenic); [4 GWAS associations](#gwas-assoc).

#### ClinVar

64 variants total. Per-class counts are floors (≥ shown; pagination cap):

| Classification | Count (floor) |
| --- | --- |
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 48 |
| Likely benign | 0 |
| Benign | 0 |

#### SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 31 predictions of 475):

| Position(s) | Effect | Δscore | Sites |
| --- | --- | --- | --- |
| 10:5641768–5641769 | donor_loss | 1.0000 | 5 |
| 10:5641772 | donor_gain | 1.0000 |  |
| 10:5651211–5651212 | donor_loss | 1.0000 | 5 |
| 10:5651361 | acceptor_gain | 1.0000 |  |
| 10:5651364 | acceptor_loss | 1.0000 |  |
| 10:5651369 | acceptor_gain | 1.0000 |  |
| 10:5652861–5652862 | donor_loss | 1.0000 | 5 |
| 10:5653051–5653052 | acceptor_loss | 1.0000 | 5 |
| 10:5640831–5640832 | acceptor_loss | 0.9900 | 6 |
| 10:5641768 | donor_loss | 0.9900 |  |

#### AlphaMissense

850 missense substitutions predicted likely pathogenic (of 1,806 scored), across 204 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
| --- | --- | --- | --- |
| D147 | 8 | 0.986 | 0.996 |
| H57 | 8 | 0.982 | 0.991 |
| D212 | 8 | 0.981 | 0.998 |
| H122 | 8 | 0.976 | 0.990 |
| D84 | 8 | 0.973 | 0.993 |
| H187 | 8 | 0.971 | 0.988 |
| H155 | 8 | 0.965 | 0.990 |
| D91 | 8 | 0.961 | 0.990 |
| D51 | 8 | 0.958 | 0.989 |
| N82 | 8 | 0.952 | 0.998 |
| S86 | 8 | 0.899 | 0.995 |
| H188 | 8 | 0.875 | 0.974 |
| H24 | 8 | 0.871 | 0.961 |
| E123 | 7 | 0.967 | 0.979 |
| C90 | 7 | 0.958 | 0.996 |
| F150 | 7 | 0.946 | 0.991 |
| F204 | 7 | 0.940 | 0.994 |
| E183 | 7 | 0.937 | 0.980 |
| D79 | 7 | 0.933 | 0.981 |
| C125 | 7 | 0.912 | 0.999 |

### HPA cancer prognostics

**RNA cancer specificity:** Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

3 prognostic cancer types:

| Cancer | Prognostic | p-value |
| --- | --- | --- |
| Kidney Renal Clear Cell Carcinoma (TCGA) | favorable | 9.69e-09 |
| Glioblastoma Multiforme (validation) | favorable | 2.2e-05 |
| Rectum Adenocarcinoma (TCGA) | favorable | 0.000649 |

### Disease associations

**OMIM:** gene `MIM:615055` | disease phenotypes: 

#### GWAS associations

4 associations:

| Study | Trait | p-value |
| --- | --- | --- |
| GCST007269_186 | Pulse pressure | 2e-8 |
| GCST012046_5 | Fasting insulin | 3e-7 |
| GCST009856_28 | Leukocyte telomere length | 1e-6 |
| GCST002337_65 | Amyotrophic lateral sclerosis (sporadic) | 3e-6 |

#### EFO canonical traits (from GWAS)

1 canonical traits:

| EFO ID | Trait name |
| --- | --- |
| EFO:0005763 | pulse pressure measurement |

## Drugs & pharmacology

### Drug and pharmacology data

**Is drug target: no**

**PharmGKB:** 1 entry (CPIC guideline: no)

#### CTD chemical–gene interactions

35 total (human), top 30 by PubMed support.

| Chemical | Actions (top 5) | PubMed papers |
| --- | --- | --- |
| sodium arsenite | decreases expression, increases expression | 2 |
| Estradiol | affects binding, increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Aflatoxin B1 | decreases expression | 2 |
| testosterone enanthate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| NSC 689534 | decreases expression, affects binding | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Bilirubin | decreases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Tamoxifen | affects cotreatment, decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Triclosan | decreases expression | 1 |

#### Clinical trials (associated diseases)

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)*: [sporadic amyotrophic lateral sclerosis](/atlas/disease/sporadic-amyotrophic-lateral-sclerosis/)