C8orf89

Summary

C8orf89 (chromosome 8 open reading frame 89, HGNC:51258) is a protein-coding gene on chromosome 8q21.11, encoding Putative uncharacterized protein C8orf89 (P0DMQ9).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 3 total — 1 pathogenic
• MANE Select transcript: NM_001243237

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:51258
Approved symbol	C8orf89
Name	chromosome 8 open reading frame 89
Location	8q21.11
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000274443
Ensembl biotype	protein_coding
Entrez	100130301

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000613105, ENST00000624510, ENST00000625134

RefSeq mRNA: 4 — MANE Select: NM_001243237 NM_001243237, NM_001391993, NM_001391994, NM_001391995

CCDS: CCDS75752, CCDS94315, CCDS94316

Canonical transcript exons

ENST00000624510 — 4 exons

Exon	Start	End
ENSE00003750021	73256973	73257126
ENSE00003757087	73241331	73241605
ENSE00003759694	73250268	73250323
ENSE00003924025	73259332	73259530

Expression profiles

Bgee: expression breadth ubiquitous, 119 present calls, max score 87.28.

Top tissues by expression

129 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	87.28	gold quality
left testis	UBERON:0004533	77.12	gold quality
testis	UBERON:0000473	76.47	gold quality
right testis	UBERON:0004534	76.30	gold quality
ganglionic eminence	UBERON:0004023	65.62	gold quality
endometrium	UBERON:0001295	65.51	gold quality
cortical plate	UBERON:0005343	64.14	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	59.58	silver quality
endocervix	UBERON:0000458	59.55	gold quality
ventricular zone	UBERON:0003053	58.12	gold quality
lymph node	UBERON:0000029	57.43	gold quality
granulocyte	CL:0000094	55.54	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	54.81	gold quality
ovary	UBERON:0000992	53.70	gold quality
right ovary	UBERON:0002118	53.64	gold quality
left ovary	UBERON:0002119	53.53	gold quality
right coronary artery	UBERON:0001625	53.41	gold quality
uterine cervix	UBERON:0000002	52.70	gold quality
mucosa of transverse colon	UBERON:0004991	52.38	gold quality
thoracic mammary gland	UBERON:0005200	51.48	gold quality
subcutaneous adipose tissue	UBERON:0002190	50.51	gold quality
lower esophagus mucosa	UBERON:0035834	50.48	gold quality
ectocervix	UBERON:0012249	50.27	gold quality
myometrium	UBERON:0001296	50.05	gold quality
body of uterus	UBERON:0009853	49.92	gold quality
adipose tissue	UBERON:0001013	49.54	gold quality
adenohypophysis	UBERON:0002196	49.01	gold quality
tibial nerve	UBERON:0001323	48.91	gold quality
gall bladder	UBERON:0002110	48.82	gold quality
omental fat pad	UBERON:0010414	48.32	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.11

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	4930444P10Rik	ENSMUSG00000067795
rattus_norvegicus	C5h8orf89	ENSRNOG00000047310

Protein

Protein identifiers

Putative uncharacterized protein C8orf89 — P0DMQ9 (reviewed: P0DMQ9)

All UniProt accessions (3): P0DMQ9, A0A087WUN2, A0A096LNS9

RefSeq proteins (4): NP_001230166, NP_001378922, NP_001378923, NP_001378924 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR040505	DUF5537	Family

Pfam: PF17690

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DMQ9-F1	68.01	0.21

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chr8q21

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

76 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C8orf89	NAP1L4	Q99733	432
C8orf89	MBD3L3	A6NE82	399
C8orf89	BKGD	Q9H0W9	390
C8orf89	ZNF566	Q969W8	375
C8orf89	SMIM22	K7EJ46	366
C8orf89	ZNF195	O14628	336
C8orf89	ROGDI	Q9GZN7	306
C8orf89	SMCO4	Q9NRQ5	292
C8orf89	UTP23	Q9BRU9	289
C8orf89	SLC35F2	Q8IXU6	287
C8orf89	ENTPD6	O75354	267
C8orf89	ATP5MJ	P56378	263
C8orf89	SEPTIN12	Q8IYM1	259
C8orf89	INTS7	Q9NVH2	258
C8orf89	ELMOD1	Q8N336	253

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A6ZTA1, A8K554, A8MT66, A8SMG2, A8Y5T1, O46660, O89085, O95567, P05910, P05913, P0C8P5, P0DJH9, P0DJX8, P0DMQ9, P19718, P27975, P33482, P34279, P38881, P41660, P86209, P87318, Q04675, Q05105, Q08270, Q1HN33, Q1X6X9, Q1X6Y0, Q1X6Y3, Q1X6Y5, Q1X6Y8, Q1X6Y9, Q1X6Z2, Q1X700, Q1X711, Q2KIJ1, Q32M92, Q4V7B4, Q5F289, Q5TBE3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
59789	GRCh38/hg38 8q13.3-21.11(chr8:70948393-74353284)x3	Pathogenic

SpliceAI

607 predictions. Top by Δscore:

Variant	Effect	Δscore
8:73251326:T:TA	donor_gain	1.0000
8:73241605:CCTGG:C	acceptor_loss	0.9800
8:73241606:C:A	acceptor_loss	0.9800
8:73241607:T:A	acceptor_loss	0.9800
8:73259327:GTTAC:G	donor_loss	0.9800
8:73259328:TTA:T	donor_loss	0.9800
8:73259329:TA:T	donor_loss	0.9800
8:73259330:ACCT:A	donor_loss	0.9800
8:73259331:CC:C	donor_loss	0.9800
8:73259331:CCTTT:C	donor_gain	0.9800
8:73257040:CA:C	donor_gain	0.9600
8:73257123:TATT:T	acceptor_gain	0.9600
8:73257125:TT:T	acceptor_gain	0.9500
8:73257127:C:CC	acceptor_gain	0.9500
8:73257131:T:TC	acceptor_gain	0.9400
8:73241606:C:CC	acceptor_gain	0.9300
8:73251323:A:AC	donor_gain	0.9300
8:73251324:C:CC	donor_gain	0.9300
8:73251324:CTTCT:C	donor_gain	0.9300
8:73259425:T:TA	donor_gain	0.9200
8:73259431:A:C	donor_gain	0.9100
8:73251325:T:C	donor_gain	0.9000
8:73259326:AGTT:A	donor_loss	0.9000
8:73241627:CAG:C	acceptor_gain	0.8900
8:73245057:A:C	acceptor_gain	0.8900
8:73251320:A:AC	donor_gain	0.8800
8:73259325:AAGTT:A	donor_loss	0.8800
8:73259454:G:T	donor_gain	0.8800
8:73250831:T:TA	donor_gain	0.8700
8:73257131:T:C	acceptor_gain	0.8600

AlphaMissense

1037 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:73241595:G:C	F116L	0.956
8:73241595:G:T	F116L	0.956
8:73241597:A:G	F116L	0.956
8:73241529:T:A	E138D	0.923
8:73241529:T:G	E138D	0.923
8:73241540:C:G	A135P	0.921
8:73241563:T:G	Y127S	0.918
8:73241553:T:A	R130S	0.905
8:73241553:T:G	R130S	0.905
8:73241564:A:C	Y127D	0.892
8:73259371:A:G	W30R	0.888
8:73259371:A:T	W30R	0.888
8:73241551:A:G	L131P	0.887
8:73259369:C:A	W30C	0.887
8:73259369:C:G	W30C	0.887
8:73241539:G:T	A135D	0.877
8:73257110:A:C	F48L	0.876
8:73257110:A:T	F48L	0.876
8:73257112:A:G	F48L	0.876
8:73241575:G:T	A123E	0.867
8:73241515:C:G	R143P	0.862
8:73241564:A:G	Y127H	0.854
8:73241564:A:T	Y127N	0.848
8:73241549:A:G	S132P	0.843
8:73241518:A:G	I142T	0.831
8:73241518:A:C	I142S	0.825
8:73241518:A:T	I142N	0.819
8:73241551:A:T	L131H	0.819
8:73259362:C:G	A33P	0.819
8:73241522:T:G	T141P	0.814

dbSNP variants (sampled 300 via entrez): RS1000019050 (8:73278980 A>C), RS1000103164 (8:73254826 T>C), RS1000109472 (8:73262730 C>A), RS1000183929 (8:73279662 G>A), RS1000257273 (8:73279988 A>G), RS1000322615 (8:73267380 A>G), RS1000377839 (8:73261079 T>C,G), RS1000543981 (8:73268281 C>A), RS1000591447 (8:73278423 C>A,T), RS1000646554 (8:73274367 G>A), RS1000658805 (8:73268685 T>G), RS1000716089 (8:73273269 T>C), RS1000881449 (8:73261989 T>C), RS1000939156 (8:73256105 A>G,T), RS1001012931 (8:73241637 A>C)

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

1 associations (top):

Study	Trait	p-value
GCST004372_3	Language performance in older adults (adjusted for episodic memory)	9.000000e-07

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004874	memory performance
EFO:0007710	cognitive decline measurement
EFO:0007797	language measurement

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
propionaldehyde	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
Rotenone	increases expression	1

Clinical trials (associated diseases)

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