C20orf144

Summary

C20orf144 (chromosome 20 open reading frame 144, HGNC:16137) is a protein-coding gene on chromosome 20q11.22, encoding Uncharacterized protein C20orf144 (Q9BQM9).

At a glance

• Clinical variants (ClinVar): 5 total
• MANE Select transcript: NM_080825

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16137
Approved symbol	C20orf144
Name	chromosome 20 open reading frame 144
Location	20q11.22
Locus type	gene with protein product
Status	Approved
Aliases	dJ63M2.6, bclt
Ensembl gene	ENSG00000149609
Ensembl biotype	protein_coding
Entrez	128864

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 retained_intron

ENST00000375222, ENST00000607738

RefSeq mRNA: 1 — MANE Select: NM_080825 NM_080825

CCDS: CCDS13223

Canonical transcript exons

ENST00000375222 — 2 exons

Exon	Start	End
ENSE00001466236	33663532	33663908
ENSE00001466239	33662327	33662471

Expression profiles

Bgee: expression breadth ubiquitous, 124 present calls, max score 96.92.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0868 / max 91.5703, expressed in 3 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
184169	0.0662	3
184168	0.0152	3
184167	0.0053	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	96.92	gold quality
left testis	UBERON:0004533	96.85	gold quality
testis	UBERON:0000473	92.46	gold quality
adult organism	UBERON:0007023	83.46	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	73.19	gold quality
sural nerve	UBERON:0015488	62.35	gold quality
stromal cell of endometrium	CL:0002255	57.66	gold quality
bone marrow cell	CL:0002092	57.04	gold quality
parotid gland	UBERON:0001831	56.93	gold quality
adrenal tissue	UBERON:0018303	56.35	gold quality
right adrenal gland cortex	UBERON:0035827	55.27	gold quality
pancreatic ductal cell	CL:0002079	55.11	silver quality
right adrenal gland	UBERON:0001233	54.94	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
epithelial cell of pancreas	CL:0000083	54.06	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
left ovary	UBERON:0002119	53.78	gold quality
left adrenal gland	UBERON:0001234	53.70	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
left adrenal gland cortex	UBERON:0035825	53.41	gold quality
adrenal gland	UBERON:0002369	53.34	gold quality
adrenal cortex	UBERON:0001235	52.84	gold quality
right ovary	UBERON:0002118	52.84	gold quality
apex of heart	UBERON:0002098	52.83	gold quality
colonic epithelium	UBERON:0000397	52.62	gold quality
granulocyte	CL:0000094	52.45	gold quality
adenohypophysis	UBERON:0002196	51.54	gold quality
pituitary gland	UBERON:0000007	51.46	gold quality
ovary	UBERON:0000992	50.94	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-GEOD-83139	no	2.73
E-ANND-3	no	1.28

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	1700003F12Rik	ENSMUSG00000038523
rattus_norvegicus	C3h20orf144	ENSRNOG00000016583

Protein

Protein identifiers

Uncharacterized protein C20orf144 — Q9BQM9 (reviewed: Q9BQM9)

Alternative names: Bcl-2-like protein from testis

All UniProt accessions (1): Q9BQM9

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Preferentially expressed in the testis.

RefSeq proteins (1): NP_543015* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029296	Bcl-2-like_put	Family

Pfam: PF15318

UniProt features (8 total): region of interest 3, compositionally biased region 3, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BQM9-F1	59.13	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 6 (showing top): chr20q11, MEISSNER_NPC_HCP_WITH_H3_UNMETHYLATED, BRUINS_UVC_RESPONSE_LATE, FOXN3_TARGET_GENES, GSE29614_CTRL_VS_DAY3_TIV_FLU_VACCINE_PBMC_DN, GSE21927_SPLEEN_VS_TUMOR_MONOCYTE_BALBC_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

32 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C20orf144	ACTL10	Q5JWF8	607
C20orf144	NECAB3	Q96P71	479
C20orf144	PXMP4	Q9Y6I8	472
C20orf144	CBFA2T2	O43439	398
C20orf144	BCL2L14	Q9BZR8	365
C20orf144	PCYT1A	P49585	317
C20orf144	ST14	Q9Y5Y6	290
C20orf144	TPCN1	Q9ULQ1	248
C20orf144	MPL	P40238	228
C20orf144	F8	P00451	223
C20orf144	GOLPH3	Q9H4A6	178
C20orf144	PF4	P02776	174
C20orf144	APAF1	O14727	162
C20orf144	ABHD16B	Q9H3Z7	0
C20orf144	RLN3	Q8WXF3	0
C20orf144	HSPB9	Q9BQS6	0

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0U1RRK4, A0A1B0GVZ6, A0A1W2PPE3, A0A1W2PR82, A0A2R8Y2Y2, A0A2Z4LIS9, A0A494C0N9, A0A494C0Y3, A5A752, A5PKC7, A6NDZ8, A6NE82, A6NEL2, A6NJ08, A6NJI1, A6QP24, A6QPM6, A8MTW9, A8MXV6, A8MYA2, B1ARW8, O35182, O43541, O75474, O75638, O89113, O94850, P0C7X2, P24097, P50617, P70339, Q02080, Q2KID8, Q2KIS6, Q3UN58, Q5JPB2, Q63003, Q6NZ36, Q6UYE1, Q6ZSJ8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	3
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

339 predictions. Top by Δscore:

Variant	Effect	Δscore
20:33662459:G:GT	donor_gain	1.0000
20:33662462:G:GT	donor_gain	1.0000
20:33662477:G:GT	donor_gain	1.0000
20:33662430:T:TA	donor_gain	0.9900
20:33662459:G:T	donor_gain	0.9900
20:33662468:GGCT:G	donor_gain	0.9900
20:33662469:G:GT	donor_gain	0.9900
20:33662469:GCT:G	donor_gain	0.9900
20:33662472:G:GG	donor_gain	0.9900
20:33663530:A:AG	acceptor_gain	0.9900
20:33663531:G:GG	acceptor_gain	0.9900
20:33663531:GACCA:G	acceptor_gain	0.9900
20:33662401:A:T	donor_gain	0.9800
20:33662431:G:GA	donor_gain	0.9800
20:33662460:A:T	donor_gain	0.9800
20:33662478:G:T	donor_gain	0.9800
20:33662489:G:T	donor_gain	0.9800
20:33663527:CCCA:C	acceptor_loss	0.9800
20:33663528:CCA:C	acceptor_loss	0.9800
20:33663530:AGACC:A	acceptor_loss	0.9800
20:33663531:GA:G	acceptor_gain	0.9800
20:33662432:G:GT	donor_gain	0.9700
20:33662470:C:G	donor_gain	0.9500
20:33662470:CTGT:C	donor_loss	0.9500
20:33662471:TGTG:T	donor_loss	0.9500
20:33662473:T:G	donor_loss	0.9500
20:33662489:G:GT	donor_gain	0.9500
20:33663531:GACC:G	acceptor_gain	0.9500
20:33662467:CGGCT:C	donor_gain	0.9400
20:33662468:GGCTG:G	donor_gain	0.9400

AlphaMissense

962 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:33663548:T:C	I48T	0.856
20:33663548:T:G	I48S	0.772
20:33663539:T:G	I45S	0.764
20:33662354:C:A	N3K	0.759
20:33662354:C:G	N3K	0.759
20:33663539:T:A	I45N	0.718
20:33663542:T:A	V46E	0.704
20:33663548:T:A	I48N	0.703
20:33663683:T:C	M93T	0.684
20:33663545:T:C	L47P	0.680
20:33662349:G:A	G2R	0.628
20:33662349:G:C	G2R	0.628
20:33662350:G:T	G2V	0.628
20:33662439:T:C	F32L	0.619
20:33662441:C:A	F32L	0.619
20:33662441:C:G	F32L	0.619
20:33662353:A:T	N3I	0.616
20:33662432:G:C	W29C	0.613
20:33662432:G:T	W29C	0.613
20:33663539:T:C	I45T	0.608
20:33663684:G:A	M93I	0.603
20:33663684:G:C	M93I	0.603
20:33663684:G:T	M93I	0.603
20:33662378:A:C	K11N	0.599
20:33662378:A:T	K11N	0.599
20:33663644:T:C	L80S	0.586
20:33663545:T:A	L47Q	0.580
20:33662374:C:T	T10I	0.572
20:33662350:G:A	G2E	0.567

dbSNP variants (sampled 300 via entrez): RS1000197218 (20:33660914 C>G), RS1001928592 (20:33662021 G>C), RS1002171229 (20:33663460 C>A,G,T), RS1002203850 (20:33663287 C>T), RS1002539055 (20:33664261 G>A,C), RS1003175426 (20:33664392 C>G), RS1003528727 (20:33660501 C>G,T), RS1004004507 (20:33663278 G>A,C), RS1004271119 (20:33663892 TAA>T), RS1005383456 (20:33663208 G>A), RS1005845676 (20:33662983 C>G), RS1006798387 (20:33661862 G>A), RS1007110745 (20:33663902 G>A,C), RS1007418819 (20:33661268 G>A), RS1007469239 (20:33664174 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

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
jinfukang	affects cotreatment, increases expression	1
MT19c compound	decreases expression	1
Cadmium	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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