C21orf140

Summary

C21orf140 (chromosome 21 open reading frame 140, HGNC:39602) is a protein-coding gene on chromosome 21q22.12, encoding Uncharacterized protein C21orf140 (B9A014).

At a glance

• MANE Select transcript: NM_001282537

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:39602
Approved symbol	C21orf140
Name	chromosome 21 open reading frame 140
Location	21q22.12
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000222018
Ensembl biotype	protein_coding
Entrez	101928147

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000410005

RefSeq mRNA: 1 — MANE Select: NM_001282537 NM_001282537

CCDS: CCDS63357

Canonical transcript exons

ENST00000410005 — 1 exons

Exon	Start	End
ENSE00001579649	34400112	34401072

Expression profiles

Bgee: expression breadth ubiquitous, 130 present calls, max score 88.88.

Top tissues by expression

133 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	88.88	gold quality
superior frontal gyrus	UBERON:0002661	71.04	gold quality
stromal cell of endometrium	CL:0002255	70.19	gold quality
prefrontal cortex	UBERON:0000451	68.51	gold quality
hindlimb stylopod muscle	UBERON:0004252	68.46	gold quality
primary visual cortex	UBERON:0002436	68.02	gold quality
right testis	UBERON:0004534	67.29	gold quality
right coronary artery	UBERON:0001625	66.67	gold quality
left testis	UBERON:0004533	66.63	gold quality
testis	UBERON:0000473	65.97	gold quality
calcaneal tendon	UBERON:0003701	65.75	gold quality
frontal cortex	UBERON:0001870	64.39	gold quality
mucosa of stomach	UBERON:0001199	63.59	gold quality
cortical plate	UBERON:0005343	63.56	gold quality
descending thoracic aorta	UBERON:0002345	63.50	gold quality
muscle layer of sigmoid colon	UBERON:0035805	62.79	gold quality
body of uterus	UBERON:0009853	62.52	gold quality
popliteal artery	UBERON:0002250	62.04	gold quality
tibial nerve	UBERON:0001323	61.98	gold quality
tibial artery	UBERON:0007610	61.97	gold quality
fundus of stomach	UBERON:0001160	61.93	gold quality
left ovary	UBERON:0002119	61.87	gold quality
corpus callosum	UBERON:0002336	61.86	gold quality
myometrium	UBERON:0001296	61.38	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	61.34	gold quality
endocervix	UBERON:0000458	61.32	gold quality
body of stomach	UBERON:0001161	61.28	gold quality
colonic epithelium	UBERON:0000397	61.06	silver quality
ovary	UBERON:0000992	60.98	gold quality
lower esophagus	UBERON:0013473	60.82	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.17

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

8 targeting C21orf140, 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-9-5P	100.00	72.28	2361
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-4316	99.37	65.75	1360
HSA-MIR-628-3P	99.04	68.37	814
HSA-MIR-9898	99.00	67.89	500
HSA-MIR-1294	98.91	69.26	1030
HSA-MIR-9986	98.91	69.28	1024
HSA-MIR-647	97.73	67.79	927

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fam243	ENSMUSG00000051728
rattus_norvegicus	C11h21orf140	ENSRNOG00000001986

Protein

Protein identifiers

Uncharacterized protein C21orf140 — B9A014 (reviewed: B9A014)

Alternative names: Protein FAM243A

All UniProt accessions (1): B9A014

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM243 family.

RefSeq proteins (2): NP_001269466, NP_001351640 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR037728	C21orf140-like	Family

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-B9A014-F1	80.79	0.55

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chr21q22

GO Biological Process (1): biological_process (GO:0008150)

GO Molecular Function (1): molecular_function (GO:0003674)

GO Cellular Component (1): cellular_component (GO:0005575)

Protein interactions and networks

STRING

62 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C21orf140	C1orf53	Q5VUE5	591
C21orf140	TEX29	Q8N6K0	570
C21orf140	HIGD1C	A8MV81	518
C21orf140	HIGD1A	Q9Y241	370
C21orf140	DNAH3	Q8TD57	369
C21orf140	GINS2	Q9Y248	305
C21orf140	PKMYT1	Q99640	305
C21orf140	OIP5	O43482	299
C21orf140	MT1A	P04731	293
C21orf140	CDCA3	Q99618	292
C21orf140	PCDH9	Q9HC56	290
C21orf140	PMPCB	O75439	195
C21orf140	MUC16	Q8WXI7	187
C21orf140	OPRM1	P35372	178
C21orf140	CCER1	Q8TC90	176

IntAct

2 interactions, top by confidence:

A	B	Type	Score
P		psi-mi:“MI:0914”(association)	0.350

ESM2 similar proteins: A0A7H0DNF0, A1A5R7, B7F7B9, B9A014, F1MIW6, F4HZD1, F4JLK2, O14138, O14423, O23702, O60106, P0DSU9, P0DSV0, P24915, P34751, P36052, P38960, P49777, P52924, P70190, P86452, Q196W7, Q1L6Q1, Q4R7M8, Q5Q0E6, Q6IND4, Q6TEQ0, Q80HX3, Q80TC5, Q84RQ9, Q8CDS7, Q8CFL8, Q8L7T6, Q8QMP8, Q8V4S4, Q96KX2, Q9BR11, Q9DCE9, Q9FFN9, Q9FFP1

Diamond homologs: B9A014, F1MIW6, Q8CDS7

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

308 predictions. Top by Δscore:

Variant	Effect	Δscore
21:34401003:T:TA	donor_gain	0.9000
21:34400953:T:TA	donor_gain	0.8700
21:34400951:A:C	donor_gain	0.8000
21:34400975:A:AC	donor_gain	0.7900
21:34400950:A:AC	donor_gain	0.7700
21:34400950:AAAT:A	donor_gain	0.7700
21:34400950:AAATC:A	donor_gain	0.7600
21:34400976:G:C	donor_gain	0.7600
21:34400826:AT:A	donor_gain	0.7100
21:34400906:A:AC	donor_gain	0.7100
21:34400907:C:CC	donor_gain	0.7100
21:34400666:T:TA	donor_gain	0.7000
21:34400942:A:AC	donor_gain	0.6900
21:34400943:C:CC	donor_gain	0.6900
21:34400907:CGAGA:C	donor_gain	0.6800
21:34400943:CGGT:C	donor_gain	0.6700
21:34400884:A:AC	donor_gain	0.6600
21:34400903:G:C	donor_gain	0.6600
21:34400961:A:AC	donor_gain	0.6600
21:34401004:C:A	donor_gain	0.6600
21:34400827:T:TA	donor_gain	0.6500
21:34400653:AG:A	donor_gain	0.6400
21:34400894:T:C	donor_gain	0.6300
21:34400944:G:C	donor_gain	0.6300
21:34400464:C:CC	acceptor_gain	0.6200
21:34400930:T:A	donor_gain	0.6200
21:34400931:C:A	donor_gain	0.6200
21:34400939:T:C	donor_gain	0.6200
21:34401028:T:TA	donor_gain	0.6200
21:34400915:T:A	donor_gain	0.6100

AlphaMissense

1664 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:34400826:A:G	W83R	0.979
21:34400826:A:T	W83R	0.979
21:34400379:A:G	W232R	0.977
21:34400379:A:T	W232R	0.977
21:34400497:A:C	F192L	0.974
21:34400497:A:T	F192L	0.974
21:34400499:A:G	F192L	0.974
21:34400817:A:G	W86R	0.973
21:34400817:A:T	W86R	0.973
21:34400588:G:T	A162D	0.971
21:34400406:C:G	G223R	0.969
21:34400406:C:T	G223R	0.969
21:34400843:G:T	A77D	0.962
21:34400759:A:C	F105C	0.959
21:34400859:A:G	W72R	0.959
21:34400859:A:T	W72R	0.959
21:34400750:A:G	F108S	0.957
21:34400758:G:C	F105L	0.957
21:34400758:G:T	F105L	0.957
21:34400760:A:G	F105L	0.957
21:34400473:A:C	F200L	0.953
21:34400473:A:T	F200L	0.953
21:34400475:A:G	F200L	0.953
21:34400711:A:T	I121N	0.953
21:34400517:A:G	W186R	0.951
21:34400517:A:T	W186R	0.951
21:34400988:A:C	Y29D	0.951
21:34400345:T:A	E243V	0.950
21:34400377:C:A	W232C	0.948
21:34400377:C:G	W232C	0.948

dbSNP variants (sampled 300 via entrez): RS1003184464 (21:34399854 G>A), RS1004251659 (21:34400832 G>A), RS1004579205 (21:34401878 C>T), RS1004672711 (21:34401916 C>G), RS1010492017 (21:34399876 G>A), RS1011603742 (21:34402808 G>A), RS1013498530 (21:34401183 A>G), RS1020859378 (21:34401558 A>T), RS1029664180 (21:34401900 G>A), RS1030101776 (21:34401867 C>T), RS1033985021 (21:34400847 G>A), RS1038711910 (21:34400957 T>A), RS1040319062 (21:34400752 C>T), RS1041455671 (21:34399785 CCT>C), RS1045013379 (21:34400354 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
clothianidin	increases expression	1

Clinical trials (associated diseases)

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