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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ARB2A
ARB2 cotranscriptional regulator A
Chromosome 5 · 5q15
NCBI Gene: 83989Ensembl: ENSG00000113391.19HGNC: HGNC:25365UniProt: B4DMI0
42PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolnucleoplasmprotein bindingendoplasmic reticulummathematical abilityacute tonsillitisbone remodeling diseasehyperpituitarism
✦AI Summary

ARB2A (ARB2 cotranscriptional regulator A) is a nuclear protein that regulates alternative splicing through interactions with AGO2 and CHD7 at the chr5-spliceosome interface 1. The gene contains an Arb2 domain associated with histone H3 lysine 9 methylation and exhibits alternative splicing with multiple transcript variants 2. ARB2A functions as a direct binding partner of AGO2, facilitating AGO2 nuclear import via a classical bipartite nuclear localization signal and the canonical importin-α/β pathway, a process enhanced by CK2-induced phosphorylation 1. The protein plays roles in neural crest cell development and regulatory ncRNA-mediated heterochromatin formation. Clinically, ARB2A dysregulation is implicated in cancer progression. In pancreatic cancer, ARB2A suppresses epithelial-to-mesenchymal transition via ERK-MAPK signaling inhibition 3, and its downregulation is associated with therapeutic resistance to hydroxychloroquine 4. In follicular thyroid carcinoma, ARB2A is aberrantly upregulated and promotes tumorigenesis through Erk1/2 and JNK pathways, with potential diagnostic utility 5. In colon cancer, ARB2A inhibits proliferation and promotes apoptosis through STAT1-mediated transcriptional regulation 6, representing a tumor suppressor function. CHARGE syndrome-associated mutations in related proteins affecting this pathway underscore its clinical relevance 1.

Sources cited
1
ARB2A (FAM172A) is a direct binding partner of AGO2 that regulates AGO2 nuclear import through a classical bipartite NLS and importin-α/β pathway, enhanced by CK2 phosphorylation; mutations cause CHARGE syndrome
PMID: 37221016
2
C5orf21 gene (ARB2A) contains an Arb2 domain associated with histone H3 lysine 9 methylation and exhibits five splice variants; expression is upregulated by high glucose, LDL, and FFA in macrophages relevant to diabetic angiopathy
PMID: 20137623
3
FAM172A (ARB2A) inhibits EMT in pancreatic cancer cells via ERK-MAPK signaling; downregulation increases Vimentin/MMP9 and decreases E-cadherin expression
PMID: 31988090
4
FAM172A (ARB2A) expression is regulated by hydroxychloroquine; downregulation may contribute to pancreatic cancer treatment mechanisms
PMID: 36014414
5
FAM172A (ARB2A) is highly expressed in follicular thyroid carcinoma; promotes tumorigenesis through Erk1/2 and JNK pathways with diagnostic potential
PMID: 33095186
6
FAM172A (ARB2A) inhibits proliferation and promotes apoptosis in colon cancer cells; STAT1 transcription factor binds to its minimal promoter and upregulates expression
PMID: 26676844
Disease Associationsⓘ20
mathematical abilityOpen Targets
0.30Weak
acute tonsillitisOpen Targets
0.29Weak
bone remodeling diseaseOpen Targets
0.26Weak
hyperpituitarismOpen Targets
0.25Weak
hemorrhoidOpen Targets
0.22Weak
diabetic retinopathyOpen Targets
0.22Weak
liver diseaseOpen Targets
0.18Weak
insomniaOpen Targets
0.16Weak
COVID-19Open Targets
0.13Weak
major depressive disorderOpen Targets
0.10Suggestive
Griscelli diseaseOpen Targets
0.08Suggestive
Griscelli disease type 3Open Targets
0.08Suggestive
Griscelli syndrome type 3Open Targets
0.08Suggestive
Parkinson diseaseOpen Targets
0.07Suggestive
hypertensionOpen Targets
0.06Suggestive
Microcephaly - albinism - digital anomaliesOpen Targets
0.06Suggestive
microcephaly-albinism-digital anomalies syndromeOpen Targets
0.06Suggestive
bipolar disorderOpen Targets
0.06Suggestive
pili bifurcatiOpen Targets
0.05Suggestive
uncombable hair syndromeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ARGLU1Shared pathway33%SRSF8Shared pathway33%KHDRBS2Shared pathway25%CELF5Shared pathway25%CELF6Shared pathway25%RBM25Shared pathway25%
Tissue Expression6 tissues
Brain
100%
Heart
44%
Bone Marrow
37%
Ovary
35%
Lung
25%
Liver
15%
Gene Interaction Network
Click a node to explore
ARB2AARGLU1SRSF8KHDRBS2CELF5CELF6RBM25
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8WUF8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.99LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.68 [0.48–0.99]
RankingsWhere ARB2A stands among ~20K protein-coding genes
  • #9,834of 20,598
    Most Researched42
  • #9,442of 17,882
    Most Constrained (LOEUF)0.99
Genes detectedARB2A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The
PMID: 33087363
Sci Adv · 2020
1.00
2
The CHARGE syndrome-associated protein FAM172A controls AGO2 nuclear import.
PMID: 37221016
Life Sci Alliance · 2023
0.90
3
[Molecular cloning of a novel gene, C5orf21 gene and its roles in diabetic macroangiopathy].
PMID: 20137623
Zhonghua Yi Xue Za Zhi · 2009
0.80
4
FAM172A inhibits EMT in pancreatic cancer via ERK-MAPK signaling.
PMID: 31988090
Biol Open · 2020
0.70
5
FAM172A promotes follicular thyroid carcinogenesis and may be a marker of FTC.
PMID: 33095186
Endocr Relat Cancer · 2020
0.60