CXorf49

Summary

CXorf49 (chromosome X open reading frame 49, HGNC:30891) is a protein-coding gene on chromosome Xq13.1, encoding Uncharacterized protein CXorf49 (A8MYA2).

At a glance

• MANE Select transcript: NM_001145140

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30891
Approved symbol	CXorf49
Name	chromosome X open reading frame 49
Location	Xq13.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000215115
Ensembl biotype	protein_coding
Entrez	100130361

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 retained_intron, 1 protein_coding

ENST00000452468, ENST00000535490

RefSeq mRNA: 1 — MANE Select: NM_001145140 NM_001145140

CCDS: CCDS75991

Canonical transcript exons

ENST00000535490 — 6 exons

Exon	Start	End
ENSE00001674373	71714371	71714544
ENSE00002236883	71716928	71718285
ENSE00002310898	71716195	71716351
ENSE00003616548	71714651	71714692
ENSE00003618974	71715247	71715292
ENSE00003639064	71715575	71715651

Expression profiles

Bgee: expression breadth broad, 71 present calls, max score 85.35.

Top tissues by expression

114 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	85.35	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	71.00	silver quality
left testis	UBERON:0004533	66.35	gold quality
right testis	UBERON:0004534	65.98	gold quality
testis	UBERON:0000473	65.18	gold quality
tibial nerve	UBERON:0001323	56.80	gold quality
body of stomach	UBERON:0001161	53.61	gold quality
right atrium auricular region	UBERON:0006631	52.19	gold quality
omental fat pad	UBERON:0010414	51.69	gold quality
apex of heart	UBERON:0002098	49.95	gold quality
stomach	UBERON:0000945	49.18	gold quality
fundus of stomach	UBERON:0001160	49.13	gold quality
minor salivary gland	UBERON:0001830	47.63	gold quality
saliva-secreting gland	UBERON:0001044	46.25	gold quality
mucosa of transverse colon	UBERON:0004991	46.13	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	44.84	gold quality
fallopian tube	UBERON:0003889	43.99	gold quality
right lung	UBERON:0002167	43.55	gold quality
left uterine tube	UBERON:0001303	43.16	gold quality
heart	UBERON:0000948	40.87	gold quality
adipose tissue	UBERON:0001013	39.71	gold quality
upper lobe of left lung	UBERON:0008952	39.60	gold quality
left coronary artery	UBERON:0001626	39.18	gold quality
adenohypophysis	UBERON:0002196	38.25	gold quality
right ovary	UBERON:0002118	37.41	silver quality
ascending aorta	UBERON:0001496	37.40	gold quality
lung	UBERON:0002048	37.37	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
descending thoracic aorta	UBERON:0002345	36.77	silver quality
thoracic aorta	UBERON:0001515	36.71	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.48

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

6 targeting CXorf49, 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): CXorf49B (ENSG00000215113), (ENSG00000283599)

Protein

Protein identifiers

Uncharacterized protein CXorf49 — A8MYA2 (reviewed: A8MYA2)

All UniProt accessions (1): A8MYA2

RefSeq proteins (1): NP_001138612* (*=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: 4 (showing top): chrXq13, PASINI_SUZ12_TARGETS_UP, MADAN_DPPA4_TARGETS, GSE37605_C57BL6_VS_NOD_FOXP3_IRES_GFP_TREG_UP

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
CXorf49	CXorf51A	A0A1B0GTR3	691
CXorf49	PWWP4	A0A494C071	691
CXorf49	TCP11X2	Q5H9J9	598
CXorf49	SPRR2G	Q9BYE4	435
CXorf49	PSAPL1	Q6NUJ1	375
CXorf49	SPRR1B	P22528	348
CXorf49	VCX3B	Q9H321	315
CXorf49	UGT8	Q16880	307
CXorf49	PNMA6A	P0CW24	305
CXorf49	RLBP1	P12271	268
CXorf49	RBMY1D	P0C7P1	268
CXorf49	TSPY1	P09002	259
CXorf49	RHOXF1	Q8NHV9	249
CXorf49	SPATA22	Q8NHS9	203
CXorf49	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

637 predictions. Top by Δscore:

Variant	Effect	Δscore
X:71714649:A:AC	donor_gain	1.0000
X:71714650:C:CC	donor_gain	1.0000
X:71715309:C:CT	acceptor_gain	1.0000
X:71716190:CTCA:C	donor_loss	1.0000
X:71716191:TCACC:T	donor_loss	1.0000
X:71716193:A:AC	donor_gain	1.0000
X:71716194:C:CC	donor_gain	1.0000
X:71716194:CCG:C	donor_gain	1.0000
X:71716194:CCGG:C	donor_gain	1.0000
X:71716194:CCGGA:C	donor_gain	1.0000
X:71716347:GGAAG:G	acceptor_gain	1.0000
X:71714544:CCTG:C	acceptor_loss	0.9900
X:71714545:C:A	acceptor_loss	0.9900
X:71714546:T:G	acceptor_loss	0.9900
X:71714650:CTT:C	donor_gain	0.9900
X:71714693:C:CC	acceptor_gain	0.9900
X:71715310:G:T	acceptor_gain	0.9900
X:71715585:C:A	donor_gain	0.9900
X:71715594:C:CA	donor_gain	0.9900
X:71715649:TACC:T	acceptor_loss	0.9900
X:71715650:ACCT:A	acceptor_loss	0.9900
X:71715652:CTG:C	acceptor_loss	0.9900
X:71715653:T:A	acceptor_loss	0.9900
X:71716185:CAAGA:C	donor_gain	0.9900
X:71716193:AC:A	donor_gain	0.9900
X:71716194:CC:C	donor_gain	0.9900
X:71716348:GAAG:G	acceptor_gain	0.9900
X:71716349:AAG:A	acceptor_gain	0.9900
X:71716350:AG:A	acceptor_gain	0.9900
X:71716352:C:CC	acceptor_gain	0.9900

AlphaMissense

3333 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1156793731 (X:71719605 G>A), RS1159614076 (X:71719272 C>G,T), RS1160432503 (X:71719717 TC>T,TCC), RS1161144551 (X:71718976 G>A,C), RS1163986297 (X:71719816 G>A,T), RS1164395657 (X:71719723 C>T), RS1164867332 (X:71719720 C>T), RS1167100848 (X:71719402 C>T), RS1167122009 (X:71719119 C>G), RS1168434171 (X:71719203 AG>A), RS1169631238 (X:71718956 C>T), RS1170071181 (X:71719844 G>C), RS1174296926 (X:71719137 G>A), RS1175094689 (X:71719512 G>A), RS1175392463 (X:71719366 C>A,G,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

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

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

Clinical trials (associated diseases)

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