CCDC182

Summary

CCDC182 (coiled-coil domain containing 182, HGNC:49392) is a protein-coding gene on chromosome 17q22, encoding Coiled-coil domain-containing protein 182 (A6NF36).

Predicted to be involved in female gonad development.

Source: NCBI Gene 101927581 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• MANE Select transcript: NM_001282544

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:49392
Approved symbol	CCDC182
Name	coiled-coil domain containing 182
Location	17q22
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000166329
Ensembl biotype	protein_coding
Entrez	101927581

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000299415

RefSeq mRNA: 1 — MANE Select: NM_001282544 NM_001282544

CCDS: CCDS62263

Canonical transcript exons

ENST00000299415 — 1 exons

Exon	Start	End
ENSE00001102140	57744495	57745299

Expression profiles

Bgee: expression breadth broad, 25 present calls, max score 88.33.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0168 / max 13.0815, expressed in 4 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
167137	0.0137	4
167138	0.0031	2

Top tissues by expression

223 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	88.33	gold quality
left testis	UBERON:0004533	86.78	gold quality
right testis	UBERON:0004534	85.99	gold quality
testis	UBERON:0000473	83.45	gold quality
sperm	CL:0000019	78.14	silver quality
pancreatic ductal cell	CL:0002079	77.25	silver quality
buccal mucosa cell	CL:0002336	73.45	gold quality
kidney epithelium	UBERON:0004819	71.37	gold quality
cardiac muscle of right atrium	UBERON:0003379	70.42	gold quality
left ventricle myocardium	UBERON:0006566	70.16	gold quality
tibialis anterior	UBERON:0001385	67.03	silver quality
esophagus squamous epithelium	UBERON:0006920	63.44	gold quality
gingival epithelium	UBERON:0001949	61.64	gold quality
adult organism	UBERON:0007023	61.04	gold quality
gingiva	UBERON:0001828	60.97	gold quality
trabecular bone tissue	UBERON:0002483	60.45	gold quality
corpus epididymis	UBERON:0004359	60.31	gold quality
cauda epididymis	UBERON:0004360	60.11	gold quality
seminal vesicle	UBERON:0000998	60.03	gold quality
superficial temporal artery	UBERON:0001614	59.94	gold quality
caput epididymis	UBERON:0004358	59.75	gold quality
amniotic fluid	UBERON:0000173	59.07	gold quality
parotid gland	UBERON:0001831	58.86	gold quality
myocardium	UBERON:0002349	58.80	gold quality
nasal cavity epithelium	UBERON:0005384	58.73	gold quality
mucosa of sigmoid colon	UBERON:0004993	57.56	gold quality
secondary oocyte	CL:0000655	57.39	gold quality
colonic mucosa	UBERON:0000317	57.11	gold quality
epithelial cell of pancreas	CL:0000083	56.74	gold quality
germinal epithelium of ovary	UBERON:0001304	56.61	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.15

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

31 targeting CCDC182, 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-1252-5P	100.00	69.80	2774
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-202-3P	99.84	71.41	1290
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-4465	99.71	72.56	2096
HSA-MIR-1284	99.67	73.56	1353
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-885-5P	99.59	68.59	879
HSA-MIR-4761-5P	99.51	66.69	804
HSA-MIR-6507-5P	99.36	70.46	2524
HSA-MIR-6734-3P	99.15	66.27	1627
HSA-MIR-6512-5P	98.76	69.29	1195
HSA-MIR-3908	98.75	67.31	1160
HSA-MIR-583	98.71	67.44	1791
HSA-MIR-676-5P	98.49	68.87	1492
HSA-MIR-1910-3P	98.44	67.51	1695
HSA-MIR-6511A-5P	98.13	67.47	1770
HSA-MIR-4423-3P	97.98	69.66	912
HSA-MIR-625-3P	97.32	66.55	554
HSA-MIR-3152-5P	96.98	66.88	819
HSA-MIR-1287-5P	96.80	65.30	743
HSA-MIR-624-5P	96.00	68.88	728
HSA-MIR-217-3P	95.67	68.42	1000

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ccdc182	ENSMUSG00000034031
rattus_norvegicus	Ccdc182	ENSRNOG00000068230

Protein

Protein identifiers

Coiled-coil domain-containing protein 182 — A6NF36 (reviewed: A6NF36)

All UniProt accessions (1): A6NF36

RefSeq proteins (1): NP_001269473* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031678	DUF4715	Family

Pfam: PF15835

UniProt features (2 total): chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NF36-F1	84.06	0.61

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 18 (showing top): GOBP_REPRODUCTIVE_SYSTEM_DEVELOPMENT, GOBP_FEMALE_SEX_DIFFERENTIATION, GOBP_SEX_DIFFERENTIATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, chr17q22, GOBP_DEVELOPMENT_OF_PRIMARY_SEXUAL_CHARACTERISTICS, GOBP_DEVELOPMENT_OF_PRIMARY_FEMALE_SEXUAL_CHARACTERISTICS, MIR3658, MIR6507_5P, MIR1284, MIR676_5P, MIR3667_3P, MIR6734_3P, MIR624_5P, MIR3152_5P

GO Biological Process (1): female gonad development (GO:0008585)

GO Molecular Function (0):

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
gonad development	1
development of primary female sexual characteristics	1

Protein interactions and networks

STRING

160 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC182	CCDC89	Q8N998	543
CCDC182	IQCF1	Q8N6M8	529
CCDC182	TVP23C	Q96ET8	507
CCDC182	GOLGA7B	Q2TAP0	496
CCDC182	MEAK7	Q6P9B6	496
CCDC182	FSCN3	Q9NQT6	443
CCDC182	CCDC42	Q96M95	439
CCDC182	KLHL10	Q6JEL2	411
CCDC182	DHX32	Q7L7V1	410
CCDC182	CNTLN	Q9NXG0	401
CCDC182	SPATA46	Q5T0L3	378
CCDC182	ART3	Q13508	370
CCDC182	TNP2	Q05952	358
CCDC182	MXRA8	Q9BRK3	345
CCDC182	TDRKH	Q9Y2W6	343

IntAct

2 interactions, top by confidence:

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

BioGRID (1): GOLGB1 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A0D9SF12, A2A8T7, A6H7E2, A6NF36, A6NFA0, A6NI87, E1C7U0, P03246, P03247, P0DO92, P14355, P14683, Q0VG49, Q1HVF6, Q32LN6, Q3KPU7, Q3KSS3, Q4V7D2, Q4ZG55, Q5DU28, Q5JX69, Q5JX71, Q5R7E2, Q5U4U4, Q642A3, Q6NRW0, Q6P1U0, Q6P4J6, Q6P9N1, Q6PEX7, Q6X4T0, Q7L3B6, Q7SYV9, Q7T346, Q80Y73, Q8BJS8, Q8CF25, Q8IWB6, Q8N6T0, Q8NCU1

Diamond homologs: A6NF36, Q9D9C6

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

145 predictions. Top by Δscore:

Variant	Effect	Δscore
17:57745001:T:TA	donor_gain	0.8600
17:57744966:C:CA	donor_gain	0.8500
17:57745078:AAAGT:A	donor_gain	0.8400
17:57744971:AG:A	donor_gain	0.6900
17:57745067:G:A	donor_gain	0.6900
17:57745107:C:CT	donor_gain	0.6900
17:57745108:C:CT	donor_gain	0.6900
17:57744972:G:C	donor_gain	0.6700
17:57744962:T:TA	donor_gain	0.6500
17:57745252:AG:A	donor_gain	0.6400
17:57744759:T:TA	donor_gain	0.6100
17:57744959:T:TA	donor_gain	0.6100
17:57745062:T:TA	donor_gain	0.6000
17:57744979:C:CA	donor_gain	0.5900
17:57744919:C:CT	acceptor_gain	0.5700
17:57744914:G:T	acceptor_gain	0.5600
17:57745229:T:C	donor_gain	0.5500
17:57745043:T:G	acceptor_gain	0.5300
17:57745064:AATG:A	donor_gain	0.5300
17:57745085:T:TA	donor_gain	0.5100
17:57744931:A:T	donor_gain	0.4900
17:57745082:T:TA	donor_gain	0.4900
17:57744547:CCA:C	donor_gain	0.4800
17:57744913:C:CT	acceptor_gain	0.4400
17:57744978:G:GA	donor_gain	0.4300
17:57744985:G:C	donor_gain	0.4300
17:57745092:C:A	donor_gain	0.4300
17:57744579:G:C	donor_gain	0.4200
17:57744983:A:AC	donor_gain	0.4200
17:57744984:C:CC	donor_gain	0.4200

AlphaMissense

992 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:57744922:G:C	F117L	0.991
17:57744922:G:T	F117L	0.991
17:57744924:A:G	F117L	0.991
17:57744934:C:A	K113N	0.971
17:57744934:C:G	K113N	0.971
17:57744923:A:G	F117S	0.969
17:57744920:A:G	L118P	0.968
17:57744899:A:G	L125P	0.963
17:57744929:A:G	L115P	0.958
17:57744951:C:G	G108R	0.957
17:57744908:T:A	E122V	0.954
17:57744942:G:T	R111S	0.954
17:57744907:C:A	E122D	0.950
17:57744907:C:G	E122D	0.950
17:57744953:C:G	R107P	0.949
17:57744971:A:G	L101P	0.947
17:57744896:C:G	R126P	0.945
17:57744929:A:T	L115H	0.944
17:57744941:C:G	R111P	0.944
17:57744923:A:C	F117C	0.938
17:57745078:A:C	F65L	0.938
17:57745078:A:T	F65L	0.938
17:57745080:A:G	F65L	0.938
17:57744917:A:G	L119S	0.936
17:57744932:A:T	V114D	0.934
17:57744920:A:T	L118Q	0.933
17:57744974:C:G	R100P	0.930
17:57744912:G:T	R121S	0.919
17:57745075:C:A	K66N	0.919
17:57745075:C:G	K66N	0.919

dbSNP variants (sampled 300 via entrez): RS1000147460 (17:57744391 G>A), RS1001741985 (17:57744515 A>T), RS1002109337 (17:57744867 G>A), RS1003369471 (17:57746289 C>G), RS1003809805 (17:57745999 C>T), RS1004150118 (17:57744721 A>T), RS1004709548 (17:57747064 A>C), RS1006055458 (17:57746919 G>C), RS1007726767 (17:57745340 A>G,T), RS1007978307 (17:57745415 C>G,T), RS1008300695 (17:57745161 A>G), RS1009283452 (17:57745790 C>T), RS1009349589 (17:57745541 T>C), RS1009442763 (17:57745888 A>C), RS1013021874 (17:57746331 T>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

2 associations (top):

Study	Trait	p-value
GCST003880_8	Schizophrenia	7.000000e-06
GCST008839_469	Height	7.000000e-14

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

Clinical trials (associated diseases)

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