CXorf51A

Summary

CXorf51A (chromosome X open reading frame 51A, HGNC:30533) is a protein-coding gene on chromosome Xq27.3, encoding Uncharacterized protein CXorf51A (A0A1B0GTR3).

At a glance

• Clinical variants (ClinVar): 4 total — 1 likely-pathogenic
• MANE Select transcript: NM_001144064

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30533
Approved symbol	CXorf51A
Name	chromosome X open reading frame 51A
Location	Xq27.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000224440
Ensembl biotype	protein_coding
Entrez	100129239

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000458472

RefSeq mRNA: 1 — MANE Select: NM_001144064 NM_001144064

CCDS: CCDS83498

Canonical transcript exons

ENST00000458472 — 2 exons

Exon	Start	End
ENSE00001620703	146814106	146814401
ENSE00001633368	146814592	146814744

Expression profiles

Bgee: expression breadth broad, 30 present calls, max score 94.52.

Top tissues by expression

93 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	94.52	gold quality
left testis	UBERON:0004533	52.29	gold quality
testis	UBERON:0000473	50.82	gold quality
right testis	UBERON:0004534	49.21	gold quality
colonic epithelium	UBERON:0000397	37.20	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
ganglionic eminence	UBERON:0004023	35.49	gold quality
right coronary artery	UBERON:0001625	35.15	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.59	silver quality
duodenum	UBERON:0002114	28.14	gold quality
muscle of leg	UBERON:0001383	27.76	gold quality
lymph node	UBERON:0000029	27.57	gold quality
gastrocnemius	UBERON:0001388	27.18	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.11	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
leukocyte	CL:0000738	25.71	gold quality
monocyte	CL:0000576	25.52	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

8 targeting CXorf51A, 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-552-5P	99.93	68.56	1583
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-11399	98.71	65.69	869
HSA-MIR-653-3P	98.31	67.71	1542
HSA-MIR-649	97.96	67.21	704
HSA-MIR-490-3P	97.79	65.54	606

Literature-anchored findings (GeneRIF, showing 1)

• Backbone and nearly complete side-chain chemical shift assignments reveal the human uncharacterized protein CXorf51A as intrinsically disordered. (PMID:34415548)

Cross-species orthologs

0 orthologs

Paralogs (1): CXorf51B (ENSG00000235699)

Protein

Protein identifiers

Uncharacterized protein CXorf51A — A0A1B0GTR3 (reviewed: A0A1B0GTR3)

All UniProt accessions (1): A0A1B0GTR3

RefSeq proteins (1): NP_001137536* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR040433	Spermatid_TP	Family

UniProt features (6 total): compositionally biased region 4, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GTR3-F1	69.50	0.02

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 7 (showing top): chrXq27, GSE17974_IL4_AND_ANTI_IL12_VS_UNTREATED_72H_ACT_CD4_TCELL_UP, GSE21546_UNSTIM_VS_ANTI_CD3_STIM_SAP1A_KO_AND_ELK1_KO_DP_THYMOCYTES_UP, GSE41867_NAIVE_VS_DAY15_LCMV_CONE13_EFFECTOR_CD8_TCELL_UP, GSE41867_DAY6_VS_DAY15_LCMV_CLONE13_EFFECTOR_CD8_TCELL_UP, GSE46242_CTRL_VS_EGR2_DELETED_TH1_CD4_TCELL_DN, GSE46606_DAY1_VS_DAY3_CD40L_IL2_IL5_STIMULATED_BCELL_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

114 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CXorf51A	CXorf49	A8MYA2	691
CXorf51A	OFD1	O75665	670
CXorf51A	EOLA2	Q96DE9	646
CXorf51A	PWWP4	A0A494C071	643
CXorf51A	FMR1NB	Q8N0W7	582
CXorf51A	TCP11X2	Q5H9J9	571
CXorf51A	SPANXN4	Q5MJ08	571
CXorf51A	SPANXN3	Q5MJ09	545
CXorf51A	EOLA1	Q8TE69	513
CXorf51A	SPANXN2	Q5MJ10	511
CXorf51A	SLITRK2	Q9H156	507
CXorf51A	SPANXN1	Q5VSR9	507
CXorf51A	HSFX4	A0A1B0GTS1	506
CXorf51A	SPANXA1	Q9NS26	505
CXorf51A	IFT172	Q9UG01	491

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GTR3, A0A7H0DN82, A7RR34, E9PVX6, O14598, O60356, O60829, O94243, P04605, P04614, P05909, P0C1K0, P0C765, P0C766, P0DPH9, P17285, P17759, P18098, P19416, P20290, P24109, P46012, P46583, Q06428, Q07555, Q08561, Q09821, Q1L9C7, Q32PF3, Q3KP22, Q5M948, Q5M951, Q5MJ08, Q5RCI9, Q6P8I4, Q758T8, Q76632, Q7M2N1, Q7TP40, Q80WR5

Diamond homologs: A0A1B0GTR3, P0DPH9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	2
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3062552	GRCh37/hg19 Xq27.3-28(chrX:144487227-148811395)	Likely pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

688 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:146814393:C:A	K47N	0.689
X:146814393:C:G	K47N	0.689
X:146814309:C:A	K75N	0.680
X:146814309:C:G	K75N	0.680
X:146814375:T:A	K53N	0.664
X:146814375:T:G	K53N	0.664
X:146814592:C:A	K44N	0.644
X:146814592:C:G	K44N	0.644
X:146814256:A:G	M93T	0.580

dbSNP variants (sampled 9 via entrez): RS1028509 (X:146814750 C>G), RS1033644 (X:146816015 G>A), RS112574046 (X:146814621 G>A), RS1557052279 (X:146814405 C>T), RS1557052280 (X:146814597 C>T), RS1557052281 (X:146814771 A>G), RS2064681 (X:146815742 A>G), RS6626168 (X:146816270 G>T), RS6626738 (X:146815974 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

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
butyraldehyde	increases expression	1
Acetaminophen	decreases expression	1
Methotrexate	increases expression	1
Antirheumatic Agents	increases expression	1

Clinical trials (associated diseases)

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