CXorf49B

Summary

CXorf49B (chromosome X open reading frame 49B, HGNC:34229) is a protein-coding gene on chromosome Xq13.1, encoding Uncharacterized protein CXorf49 (A8MYA2).

At a glance

• MANE Select transcript: NM_001145139

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34229
Approved symbol	CXorf49B
Name	chromosome X open reading frame 49B
Location	Xq13.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000215113
Ensembl biotype	protein_coding
Entrez	100132994

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 retained_intron, 1 protein_coding

ENST00000440412, ENST00000542739

RefSeq mRNA: 1 — MANE Select: NM_001145139 NM_001145139

CCDS: CCDS75992

Canonical transcript exons

ENST00000542739 — 6 exons

Exon	Start	End
ENSE00001677324	71767031	71767204
ENSE00002259905	71763349	71764647
ENSE00002311905	71765224	71765380
ENSE00003524803	71765924	71766000
ENSE00003593858	71766883	71766924
ENSE00003668531	71766283	71766328

Expression profiles

Bgee: expression breadth broad, 47 present calls, max score 90.96.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0293 / max 6.2249, expressed in 15 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
209729	0.0293	15

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.96	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.68	gold quality
right testis	UBERON:0004534	65.22	gold quality
testis	UBERON:0000473	64.22	gold quality
left testis	UBERON:0004533	63.62	gold quality
fallopian tube	UBERON:0003889	40.35	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	39.34	silver quality
tibial nerve	UBERON:0001323	37.56	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
left uterine tube	UBERON:0001303	36.93	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
sural nerve	UBERON:0015488	35.89	gold quality
omental fat pad	UBERON:0010414	35.85	gold quality
right lung	UBERON:0002167	35.66	silver quality
body of stomach	UBERON:0001161	35.62	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
placenta	UBERON:0001987	35.35	gold quality
stomach	UBERON:0000945	34.72	gold quality
right atrium auricular region	UBERON:0006631	34.62	gold quality
apex of heart	UBERON:0002098	34.45	gold quality
muscle tissue	UBERON:0002385	34.39	gold quality
bone marrow	UBERON:0002371	34.34	gold quality
mucosa of transverse colon	UBERON:0004991	33.56	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
lymph node	UBERON:0000029	32.94	gold quality
gall bladder	UBERON:0002110	32.61	gold quality
fundus of stomach	UBERON:0001160	32.36	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.47

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

6 targeting CXorf49B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-8065	99.19	70.38	1289
HSA-MIR-1843	98.97	66.07	838
HSA-MIR-4802-5P	98.97	66.26	833
HSA-MIR-302F	98.44	69.02	1776
HSA-MIR-203B-3P	97.82	66.27	979
HSA-MIR-6805-5P	95.79	64.86	670

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gm4779	ENSMUSG00000045010
mus_musculus	8030474K03Rik	ENSMUSG00000046774
mus_musculus	4933412E24Rik	ENSMUSG00000071749
mus_musculus	Gm3858	ENSMUSG00000118638
rattus_norvegicus	4933412E24Rikl	ENSRNOG00000004914
rattus_norvegicus	Cxhxorf49B	ENSRNOG00000025200
rattus_norvegicus	Cxhxorf49	ENSRNOG00000025211
rattus_norvegicus	Cxhxorf49l1	ENSRNOG00000060462

Paralogs (2): CXorf49 (ENSG00000215115), (ENSG00000283599)

Protein

Protein identifiers

Uncharacterized protein CXorf49 — A8MYA2 (reviewed: A8MYA2)

All UniProt accessions (1): A8MYA2

RefSeq proteins (1): NP_001138611* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027822	CXorf49	Family

Pfam: PF15483

UniProt features (6 total): region of interest 3, compositionally biased region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8MYA2-F1	49.96	0.05

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 7 (showing top): chrXq13, GSE14026_TH1_VS_TH17_UP, GSE32423_CTRL_VS_IL4_MEMORY_CD8_TCELL_UP, GSE2770_UNTREATED_VS_IL12_TREATED_ACT_CD4_TCELL_6H_UP, GSE22935_UNSTIM_VS_48H_MBOVIS_BCG_STIM_MYD88_KO_MACROPHAGE_DN, GSE23502_WT_VS_HDC_KO_MYELOID_DERIVED_SUPPRESSOR_CELL_COLON_TUMOR_UP, GSE24972_WT_VS_IRF8_KO_MARGINAL_ZONE_SPLEEN_BCELL_DN

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

206 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CXorf49B	CXorf51A	A0A1B0GTR3	691
CXorf49B	PWWP4	A0A494C071	691
CXorf49B	TCP11X2	Q5H9J9	598
CXorf49B	SPRR2G	Q9BYE4	435
CXorf49B	PSAPL1	Q6NUJ1	375
CXorf49B	SPRR1B	P22528	348
CXorf49B	VCX3B	Q9H321	315
CXorf49B	UGT8	Q16880	307
CXorf49B	PNMA6A	P0CW24	305
CXorf49B	RLBP1	P12271	268
CXorf49B	RBMY1D	P0C7P1	268
CXorf49B	TSPY1	P09002	259
CXorf49B	RHOXF1	Q8NHV9	249
CXorf49B	SPATA22	Q8NHS9	203
CXorf49B	MEIOB	Q8N635	201

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A096LP49, A0A8V8TNH8, A0A8V8TPE2, A2VE02, A5D7I0, A6NDY2, A6NGG8, A6NIJ5, A6NNJ1, A8MXJ8, A8MYA2, B1ASB6, B2RW88, D6RGX4, O60269, P0C7V4, P0C7W8, P0C7W9, P0C7X0, P0DV75, P0DV76, Q2KIS6, Q2NL68, Q3SY00, Q4R736, Q4V8B5, Q5RCQ2, Q5SZB4, Q5VZ46, Q5XIK6, Q658T7, Q66JV7, Q6NS69, Q6PAC4, Q6ZMY3, Q76N32, Q7TSA6, Q7Z591, Q80VW7, Q80X53

Diamond homologs: A5PKC7, A8MYA2, Q3KR64, Q9D454

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

621 predictions. Top by Δscore:

Variant	Effect	Δscore
X:71765223:GCTTC:G	acceptor_gain	1.0000
X:71765376:CTCCG:C	donor_gain	1.0000
X:71765377:TCCG:T	donor_gain	1.0000
X:71765378:CCG:C	donor_gain	1.0000
X:71765379:CGG:C	donor_loss	1.0000
X:71765380:GGT:G	donor_loss	1.0000
X:71765381:G:GG	donor_gain	1.0000
X:71766265:C:CA	acceptor_gain	1.0000
X:71766925:G:GG	donor_gain	1.0000
X:71764628:A:G	donor_gain	0.9900
X:71764634:TCCC:T	donor_gain	0.9900
X:71764648:G:GG	donor_gain	0.9900
X:71764652:G:GG	donor_gain	0.9900
X:71765218:TTTTA:T	acceptor_loss	0.9900
X:71765222:A:AG	acceptor_gain	0.9900
X:71765223:G:GG	acceptor_gain	0.9900
X:71765223:GC:G	acceptor_gain	0.9900
X:71765223:GCT:G	acceptor_gain	0.9900
X:71765223:GCTT:G	acceptor_gain	0.9900
X:71765379:CG:C	donor_gain	0.9900
X:71765380:GG:G	donor_gain	0.9900
X:71765385:GTCTT:G	donor_gain	0.9900
X:71765918:TTTCA:T	acceptor_loss	0.9900
X:71765919:TTCA:T	acceptor_loss	0.9900
X:71765922:A:C	acceptor_loss	0.9900
X:71765980:G:GT	donor_gain	0.9900
X:71765990:G:T	donor_gain	0.9900
X:71766881:A:AG	acceptor_gain	0.9900
X:71766882:G:GG	acceptor_gain	0.9900
X:71766922:GAA:G	donor_gain	0.9900

AlphaMissense

3333 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:71763586:T:C	F55L	0.867
X:71763588:C:A	F55L	0.867
X:71763588:C:G	F55L	0.867
X:71766314:T:C	L497P	0.847
X:71765992:T:C	C484R	0.840
X:71763604:T:C	F61L	0.837
X:71763606:C:A	F61L	0.837
X:71763606:C:G	F61L	0.837
X:71766293:T:C	L490P	0.832
X:71764195:T:C	F258L	0.813
X:71764197:C:A	F258L	0.813
X:71764197:C:G	F258L	0.813
X:71766285:C:G	C487W	0.813
X:71766283:T:A	C487S	0.808
X:71766284:G:C	C487S	0.808
X:71766283:T:C	C487R	0.794
X:71764432:T:C	F337L	0.790
X:71764434:T:A	F337L	0.790
X:71764434:T:G	F337L	0.790
X:71765992:T:A	C484S	0.783
X:71765993:G:C	C484S	0.783
X:71765994:T:G	C484W	0.768
X:71764156:T:C	F245L	0.747
X:71764158:C:A	F245L	0.747
X:71764158:C:G	F245L	0.747
X:71766323:A:C	Q500P	0.737
X:71766326:T:C	L501P	0.736
X:71766885:G:C	A503P	0.721
X:71766284:G:A	C487Y	0.720
X:71766894:T:C	F506L	0.718

dbSNP variants (sampled 36 via entrez): RS1181967377 (X:71762055 C>T), RS1202727726 (X:71762461 G>A), RS1231786125 (X:71761884 C>T), RS1356746186 (X:71762483 C>T), RS1439444939 (X:71762278 C>G), RS1556222755 (X:71767383 T>C), RS1556229065 (X:71763431 C>T), RS1556229071 (X:71763453 T>G), RS1556229075 (X:71763561 C>T), RS1556229080 (X:71763742 G>A), RS1556229085 (X:71763802 G>T), RS1556229091 (X:71763851 A>G), RS1556229097 (X:71763899 G>C), RS1556229103 (X:71764181 C>T), RS1556229109 (X:71764268 C>T)

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

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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