CCDC92B

Summary

CCDC92B (coiled-coil domain containing 92B, HGNC:52279) is a protein-coding gene on chromosome 17p13.3, encoding Coiled-coil domain-containing 92B (A0A8I5KY20).

At a glance

• Clinical variants (ClinVar): 7 total — 6 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_001355573

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:52279
Approved symbol	CCDC92B
Name	coiled-coil domain containing 92B
Location	17p13.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000277200
Ensembl biotype	protein_coding
Entrez	101928991

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000614400

RefSeq mRNA: 1 — MANE Select: NM_001355573 NM_001355573

CCDS: CCDS92222

Canonical transcript exons

ENST00000614400 — 4 exons

Exon	Start	End
ENSE00002631198	2730446	2730493
ENSE00002672867	2735016	2735168
ENSE00002699216	2749411	2749652
ENSE00003745062	2720801	2725000

Expression profiles

Bgee: expression breadth ubiquitous, 181 present calls, max score 92.56.

FANTOM5 (CAGE): breadth broad, TPM avg 1.3210 / max 55.0857, expressed in 262 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
163840	0.6935	197
163839	0.5840	198
163838	0.0435	31

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
kidney epithelium	UBERON:0004819	92.56	gold quality
cerebellar vermis	UBERON:0004720	91.70	gold quality
left ventricle myocardium	UBERON:0006566	90.99	silver quality
pancreatic ductal cell	CL:0002079	90.65	silver quality
cardiac muscle of right atrium	UBERON:0003379	90.58	gold quality
upper arm skin	UBERON:0004263	88.82	gold quality
vena cava	UBERON:0004087	87.55	silver quality
lateral nuclear group of thalamus	UBERON:0002736	86.67	gold quality
right hemisphere of cerebellum	UBERON:0014890	86.09	gold quality
lateral globus pallidus	UBERON:0002476	85.98	gold quality
cerebellar hemisphere	UBERON:0002245	85.87	gold quality
cerebellum	UBERON:0002037	85.81	gold quality
cerebellar cortex	UBERON:0002129	85.79	gold quality
epithelial cell of pancreas	CL:0000083	85.56	gold quality
body of tongue	UBERON:0011876	84.97	silver quality
pons	UBERON:0000988	84.57	gold quality
subthalamic nucleus	UBERON:0001906	84.29	silver quality
dorsal plus ventral thalamus	UBERON:0001897	84.28	silver quality
substantia nigra pars compacta	UBERON:0001965	84.15	gold quality
ventral tegmental area	UBERON:0002691	83.59	gold quality
substantia nigra pars reticulata	UBERON:0001966	83.25	silver quality
cardia of stomach	UBERON:0001162	82.95	silver quality
medulla oblongata	UBERON:0001896	82.27	gold quality
superior vestibular nucleus	UBERON:0007227	82.26	gold quality
middle temporal gyrus	UBERON:0002771	82.11	gold quality
heart right ventricle	UBERON:0002080	81.88	silver quality
entorhinal cortex	UBERON:0002728	81.88	gold quality
tongue	UBERON:0001723	81.82	silver quality
parotid gland	UBERON:0001831	81.82	gold quality
right frontal lobe	UBERON:0002810	81.77	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-135	no	669.02
E-ANND-3	no	2.10

Regulation

Is transcription factor: no

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ccdc92bb	ENSDARG00000087088
danio_rerio	ccdc92ba	ENSDARG00000090642
mus_musculus	Ccdc92b	ENSMUSG00000069814
rattus_norvegicus	Ccdc92b	ENSRNOG00000069756

Paralogs (1): CCDC92 (ENSG00000119242)

Protein

Protein identifiers

Coiled-coil domain-containing 92B — A0A8I5KY20 (reviewed: A0A8I5KY20)

All UniProt accessions (1): A0A8I5KY20

RefSeq proteins (1): NP_001342502* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR039496	CCDC92/74_N	Domain
IPR040370	CCDC74A/CCDC74B/CCDC92	Family

Pfam: PF14916

UniProt features (5 total): compositionally biased region 2, chain 1, region of interest 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A8I5KY20-F1	78.69	0.58

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 7 (showing top): GAUSSMANN_MLL_AF4_FUSION_TARGETS_G_UP, MEISSNER_NPC_HCP_WITH_H3K4ME2_AND_H3K27ME3, MIKKELSEN_MCV6_HCP_WITH_H3K27ME3, MIKKELSEN_NPC_HCP_WITH_H3K27ME3, MIKKELSEN_MEF_HCP_WITH_H3K27ME3, PILON_KLF1_TARGETS_UP, chr17p13

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A8I5KY20, A2A9T0, A2IDD5, B0BNK9, B8ZZ34, C9JI98, C9JLR9, F5GYI3, O18734, P0CG25, P84157, Q0IIA6, Q0PHV7, Q0X0E2, Q13387, Q1RMK9, Q2M3D2, Q2TAM9, Q3ZCQ3, Q4VA45, Q673H1, Q69YZ2, Q6NS60, Q6P6N5, Q6PJ61, Q7Z6J2, Q80ZJ8, Q810I0, Q86SX3, Q86UD0, Q86XT2, Q8BNN1, Q8IUW3, Q8N4Y2, Q8N6N2, Q8QZV0, Q8R4T5, Q8TF61, Q8VCR9, Q8WXF8

Diamond homologs: A0A8I5KY20, Q8VDN4, Q53HC0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	1
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
145988	GRCh38/hg38 17p13.3(chr17:2414781-2722552)x3	Pathogenic
146397	GRCh38/hg38 17p13.3(chr17:2581219-2767565)x1	Pathogenic
149147	GRCh38/hg38 17p13.3(chr17:1742705-2952264)x1	Pathogenic
151248	GRCh38/hg38 17p13.3(chr17:2298292-2728190)x1	Pathogenic
58671	GRCh38/hg38 17p13.3(chr17:1287199-3154232)x3	Pathogenic
59562	GRCh38/hg38 17p13.3-13.2(chr17:2527510-3467165)x1	Pathogenic
154132	GRCh38/hg38 17p13.3(chr17:2403263-2960737)x3	Likely pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1620 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000083920 (17:2729349 C>T), RS1000194223 (17:2747951 T>C,G), RS1000203930 (17:2749271 G>A,T), RS1000333422 (17:2723690 G>T), RS1000471006 (17:2724722 C>T), RS1000502051 (17:2724427 G>A,C), RS1000508880 (17:2737438 C>T), RS1000528403 (17:2733921 G>A), RS1000635731 (17:2739549 G>A), RS1000686560 (17:2739409 G>A), RS1000698592 (17:2728666 A>T), RS1000798178 (17:2746393 G>A), RS1000958843 (17:2733241 T>G), RS1001090882 (17:2728070 A>G), RS1001113431 (17:2738883 C>CA)

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
aflatoxin B2	increases methylation	1
abrine	increases expression	1

Clinical trials (associated diseases)

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