ARMH2

Summary

ARMH2 (armadillo like helical domain containing 2, HGNC:49394) is a protein-coding gene on chromosome 6p22.3, encoding Armadillo-like helical domain-containing protein 2 (H3BNL8).

At a glance

• MANE Select transcript: NM_001282492

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:49394
Approved symbol	ARMH2
Name	armadillo like helical domain containing 2
Location	6p22.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000260286
Ensembl biotype	protein_coding
Entrez	101928603

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000565469

RefSeq mRNA: 1 — MANE Select: NM_001282492 NM_001282492

CCDS: CCDS64366

Canonical transcript exons

ENST00000565469 — 2 exons

Exon	Start	End
ENSE00002576331	24798593	24798917
ENSE00002591753	24797335	24797837

Expression profiles

Bgee: expression breadth broad, 64 present calls, max score 92.00.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0273 / max 24.8097, expressed in 4 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
72215	0.0221	4
72214	0.0052	3

Top tissues by expression

99 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.00	gold quality
left testis	UBERON:0004533	76.54	gold quality
testis	UBERON:0000473	76.30	gold quality
right testis	UBERON:0004534	75.40	gold quality
granulocyte	CL:0000094	66.00	gold quality
blood	UBERON:0000178	65.70	gold quality
monocyte	CL:0000576	64.26	gold quality
leukocyte	CL:0000738	64.16	gold quality
right uterine tube	UBERON:0001302	61.67	gold quality
spleen	UBERON:0002106	55.76	gold quality
right lung	UBERON:0002167	55.61	gold quality
fallopian tube	UBERON:0003889	46.76	gold quality
lymph node	UBERON:0000029	46.63	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	45.99	silver quality
endometrium	UBERON:0001295	41.88	silver quality
lung	UBERON:0002048	40.53	gold quality
lower esophagus mucosa	UBERON:0035834	40.05	gold quality
cerebellar hemisphere	UBERON:0002245	39.48	silver quality
cerebellum	UBERON:0002037	39.34	silver quality
cerebellar cortex	UBERON:0002129	39.33	silver quality
upper lobe of left lung	UBERON:0008952	38.05	gold quality
ganglionic eminence	UBERON:0004023	37.65	gold quality
mucosa of transverse colon	UBERON:0004991	37.42	silver quality
skeletal muscle tissue	UBERON:0001134	37.41	silver quality
muscle tissue	UBERON:0002385	37.33	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
right hemisphere of cerebellum	UBERON:0014890	36.95	silver quality
vermiform appendix	UBERON:0001154	36.60	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.02

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Armh2	ENSMUSG00000085861
rattus_norvegicus	Armh2	ENSRNOG00000064812

Protein

Protein identifiers

Armadillo-like helical domain-containing protein 2 — H3BNL8 (reviewed: H3BNL8)

All UniProt accessions (1): H3BNL8

RefSeq proteins (1): NP_001269421* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR040268	ARMH2	Family

Pfam: PF17822

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-H3BNL8-F1	89.04	0.70

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 4 (showing top): DESCARTES_MAIN_FETAL_CILIATED_EPITHELIAL_CELLS, DESCARTES_FETAL_LUNG_CILIATED_EPITHELIAL_CELLS, NKX2_5_TARGET_GENES, chr6p22

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

58 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARMH2	ARMH1	Q6PIY5	876
ARMH2	ZMYND12	Q9H0C1	654
ARMH2	CCDC150	Q8NCX0	581
ARMH2	ZNF497	Q6ZNH5	580
ARMH2	ZNF34	Q8IZ26	570
ARMH2	ARMH4	Q86TY3	559
ARMH2	CCDC30	Q5VVM6	543
ARMH2	TAFA2	Q8N3H0	475
ARMH2	CATSPER3	Q86XQ3	474
ARMH2	SMARCD3	Q6STE5	401
ARMH2	IER3IP1	Q9Y5U9	396
ARMH2	MPRIP	Q6WCQ1	348
ARMH2	OSR1	Q8TAX0	331
ARMH2	KANK1	Q14678	321
ARMH2	XKR9	Q5GH70	316

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A2A6H3, A5D8W1, A6QR20, B0CM26, B0VXE6, D3ZSP7, E1C231, F4HZB2, F4JHT3, F4JS25, F6S215, H3BNL8, O15050, O74447, O88196, O94822, P0CX12, P0CX13, P53804, P78527, P97313, P97357, Q0VF22, Q13315, Q15573, Q3B7U2, Q3V129, Q5MNV8, Q5R4M2, Q5SSH7, Q5XJY6, Q62388, Q6DFV1, Q6PQD5, Q8BH53, Q8BKX6, Q8GY23, Q8NB91, Q8QGX4, Q8TEL6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

157 predictions. Top by Δscore:

Variant	Effect	Δscore
6:24798587:CAGTA:C	donor_loss	0.9900
6:24798588:AGTAC:A	donor_loss	0.9900
6:24798589:GTACC:G	donor_loss	0.9900
6:24798590:TA:T	donor_loss	0.9900
6:24798591:A:AT	donor_loss	0.9900
6:24798592:CCTG:C	donor_loss	0.9900
6:24798694:T:TG	acceptor_gain	0.9900
6:24797835:CTC:C	acceptor_gain	0.9800
6:24797837:CCTGT:C	acceptor_loss	0.9800
6:24797838:C:CC	acceptor_gain	0.9800
6:24797838:CT:C	acceptor_loss	0.9800
6:24797839:T:A	acceptor_loss	0.9800
6:24797839:T:G	acceptor_loss	0.9800
6:24797834:CCTC:C	acceptor_gain	0.9700
6:24797835:CTCC:C	acceptor_gain	0.9700
6:24797836:TCCT:T	acceptor_gain	0.9700
6:24798739:T:TG	acceptor_gain	0.9600
6:24797833:TCCTC:T	acceptor_gain	0.9500
6:24797834:CCTCC:C	acceptor_gain	0.9500
6:24798798:C:T	acceptor_gain	0.9500
6:24797836:TC:T	acceptor_gain	0.9400
6:24797837:CC:C	acceptor_gain	0.9400
6:24798696:A:C	acceptor_gain	0.9200
6:24798798:C:CT	acceptor_gain	0.9100
6:24798754:T:TG	acceptor_gain	0.9000
6:24798593:C:G	donor_loss	0.8900
6:24798823:C:T	acceptor_gain	0.8700
6:24797841:TAAAA:T	acceptor_loss	0.8500
6:24797842:AAAA:A	acceptor_loss	0.8400
6:24798695:C:A	acceptor_gain	0.8000

AlphaMissense

1525 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:24797731:A:C	S124R	0.991
6:24797731:A:T	S124R	0.991
6:24797733:T:G	S124R	0.991
6:24798597:G:C	F87L	0.982
6:24798597:G:T	F87L	0.982
6:24798599:A:G	F87L	0.982
6:24798622:G:T	A79D	0.982
6:24797721:A:G	W128R	0.978
6:24797721:A:T	W128R	0.978
6:24797475:A:G	W210R	0.976
6:24797475:A:T	W210R	0.976
6:24797580:A:G	C175R	0.976
6:24797578:A:C	C175W	0.975
6:24797466:A:G	W213R	0.974
6:24797466:A:T	W213R	0.974
6:24797473:C:A	W210C	0.972
6:24797473:C:G	W210C	0.972
6:24797498:A:G	L202S	0.972
6:24797718:A:G	C129R	0.970
6:24797452:A:C	F217L	0.969
6:24797452:A:T	F217L	0.969
6:24797454:A:G	F217L	0.969
6:24797738:A:G	L122P	0.969
6:24797455:A:C	N216K	0.968
6:24797455:A:T	N216K	0.968
6:24797570:A:G	L178P	0.967
6:24797586:A:G	W173R	0.967
6:24797586:A:T	W173R	0.967
6:24798626:C:G	A78P	0.967
6:24798610:C:T	G83E	0.964

dbSNP variants (sampled 300 via entrez): RS1000866145 (6:24799807 T>G), RS1000918408 (6:24800312 T>C,G), RS1001420887 (6:24796913 C>T), RS1003311780 (6:24799236 G>T), RS1004439993 (6:24797988 G>A), RS1005400310 (6:24799603 A>G), RS1005443381 (6:24799316 T>C), RS1008189841 (6:24800865 TA>T), RS1008275911 (6:24797365 G>A), RS1008328108 (6:24797611 T>C), RS1009520845 (6:24797104 T>C), RS1011395922 (6:24797303 T>A), RS1011476804 (6:24798655 T>A), RS1011489586 (6:24800421 T>C), RS1012076192 (6:24800245 G>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
sodium arsenite	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.