CCDC191

Summary

CCDC191 (coiled-coil domain containing 191, HGNC:29272) is a protein-coding gene on chromosome 3q13.31, encoding Coiled-coil domain-containing protein 191 (Q8NCU4).

At a glance

• Clinical variants (ClinVar): 149 total — 1 pathogenic
• MANE Select transcript: NM_020817

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29272
Approved symbol	CCDC191
Name	coiled-coil domain containing 191
Location	3q13.31
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000163617
Ensembl biotype	protein_coding
Entrez	57577

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 8 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000295878, ENST00000460813, ENST00000463695, ENST00000480588, ENST00000481358, ENST00000483766, ENST00000491000, ENST00000527855, ENST00000907458, ENST00000907459, ENST00000918262, ENST00000955809, ENST00000955810

RefSeq mRNA: 3 — MANE Select: NM_020817 NM_001353766, NM_001353767, NM_020817

CCDS: CCDS2977

Canonical transcript exons

ENST00000295878 — 17 exons

Exon	Start	End
ENSE00001241468	113978186	113978331
ENSE00001241499	114004637	114004746
ENSE00001241569	113964137	113965359
ENSE00001241579	114056377	114056526
ENSE00003486443	114053597	114053635
ENSE00003488467	114002456	114002538
ENSE00003500847	114034925	114035148
ENSE00003517551	114018678	114018868
ENSE00003525315	114046591	114046732
ENSE00003543984	114031626	114031779
ENSE00003554165	114036608	114036786
ENSE00003557259	114010772	114011021
ENSE00003561892	113980650	113980793
ENSE00003568361	113978858	113979010
ENSE00003578327	114042703	114042846
ENSE00003664534	114001595	114001696
ENSE00003785323	114005508	114005962

Expression profiles

Bgee: expression breadth ubiquitous, 195 present calls, max score 94.82.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.9145 / max 108.5483, expressed in 1362 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
43863	3.9145	1362

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	94.82	gold quality
bronchial epithelial cell	CL:0002328	92.30	gold quality
bronchus	UBERON:0002185	90.86	gold quality
sural nerve	UBERON:0015488	90.74	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.39	gold quality
mucosa of paranasal sinus	UBERON:0005030	87.25	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.25	gold quality
calcaneal tendon	UBERON:0003701	84.53	gold quality
adenohypophysis	UBERON:0002196	84.06	gold quality
kidney epithelium	UBERON:0004819	83.99	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	83.91	gold quality
caput epididymis	UBERON:0004358	83.86	gold quality
pituitary gland	UBERON:0000007	83.72	gold quality
left lobe of thyroid gland	UBERON:0001120	82.94	gold quality
thyroid gland	UBERON:0002046	82.64	gold quality
right testis	UBERON:0004534	82.03	gold quality
right lobe of thyroid gland	UBERON:0001119	81.98	gold quality
metanephros cortex	UBERON:0010533	81.92	gold quality
left testis	UBERON:0004533	81.88	gold quality
testis	UBERON:0000473	81.17	gold quality
ventricular zone	UBERON:0003053	81.02	gold quality
tibial nerve	UBERON:0001323	79.94	gold quality
epithelium of nasopharynx	UBERON:0001951	79.62	gold quality
nasopharynx	UBERON:0001728	79.61	gold quality
body of pancreas	UBERON:0001150	79.44	gold quality
fallopian tube	UBERON:0003889	78.89	gold quality
left ovary	UBERON:0002119	78.62	gold quality
body of uterus	UBERON:0009853	78.17	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	78.09	gold quality
endocervix	UBERON:0000458	78.00	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-4	yes	55.64
E-ANND-3	yes	9.43
E-MTAB-6058	no	217.88
E-MTAB-6379	no	174.24

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

59 targeting CCDC191, 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-6867-5P	100.00	82.21	3464
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-4679	99.76	69.19	1229
HSA-MIR-2681-5P	99.75	67.64	1655
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-586	99.65	70.40	2051
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-567	99.63	68.57	1219
HSA-MIR-497-3P	99.61	69.71	1990
HSA-MIR-4452	99.50	68.45	1493
HSA-MIR-5571-5P	99.49	66.99	1764
HSA-MIR-3123	99.47	67.15	2693
HSA-MIR-363-5P	99.46	64.51	1015

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ccdc191	ENSDARG00000027851
mus_musculus	Ccdc191	ENSMUSG00000022701
rattus_norvegicus	Ccdc191	ENSRNOG00000057815
drosophila_melanogaster	CG17258	FBGN0031496

Paralogs (1): SFI1 (ENSG00000198089)

Protein

Protein identifiers

Coiled-coil domain-containing protein 191 — Q8NCU4 (reviewed: Q8NCU4)

All UniProt accessions (5): C9JA89, Q8NCU4, F8WCI8, F8WF68, H7C553

Isoforms (2)

UniProt ID	Names	Canonical?
Q8NCU4-1	1	yes
Q8NCU4-2	2

RefSeq proteins (3): NP_001340695, NP_001340696, NP_065868* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR052270	CACF_protein	Family

UniProt features (15 total): coiled-coil region 4, region of interest 3, splice variant 3, sequence variant 2, compositionally biased region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NCU4-F1	72.36	0.39

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 88 (showing top): CAGCTG_AP4_Q5, AACWWCAANK_UNKNOWN, MYOD_01, MYCMAX_01, GRADE_COLON_AND_RECTAL_CANCER_UP, TGGAAA_NFAT_Q4_01, MYCMAX_03, MAX_01, AR_Q6, AP4_Q6_01, GKCGCNNNNNNNTGAYG_UNKNOWN, KIM_MYCN_AMPLIFICATION_TARGETS_DN, GSE14415_INDUCED_TREG_VS_TCONV_DN, BARX1_TARGET_GENES, CIITA_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

122 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC191	FAM9C	Q8IZT9	623
CCDC191	FBXW10B	O95170	564
CCDC191	BTBD16	Q32M84	480
CCDC191	CIBAR2	Q6ZTR7	473
CCDC191	FBXW10	Q5XX13	448
CCDC191	LNX1	Q8TBB1	405
CCDC191	CDK20	Q8IZL9	401
CCDC191	RALGAPA1	Q6GYQ0	391
CCDC191	STK24	Q9Y6E0	389
CCDC191	CLCN4	P51793	369
CCDC191	WBP2	Q969T9	350
CCDC191	ZNF711	Q9Y462	324
CCDC191	TENM4	Q6N022	311
CCDC191	PSME4	Q14997	295
CCDC191	ARHGEF28	Q8N1W1	256

IntAct

8 interactions, top by confidence:

A	B	Type	Score
CETN1	SFI1	psi-mi:“MI:0914”(association)	0.640
CALCOCO2	TBKBP1	psi-mi:“MI:0914”(association)	0.640
CCDC191	RPN1	psi-mi:“MI:0915”(physical association)	0.400
CCDC191	EEF1A1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (10): KIAA1407 (Affinity Capture-MS), KIAA1407 (Proximity Label-MS), KIAA1407 (Proximity Label-MS), KIAA1407 (Affinity Capture-MS), KIAA1407 (Affinity Capture-MS), RRBP1 (Cross-Linking-MS (XL-MS)), KIAA1407 (Cross-Linking-MS (XL-MS)), KIAA1407 (Cross-Linking-MS (XL-MS)), THRAP3 (Cross-Linking-MS (XL-MS)), KIAA1407 (Affinity Capture-MS)

ESM2 similar proteins: A0AUP1, A0JMY4, A3KQH2, D6REC4, E1C760, F1QRC1, F1RKB1, F7AEX0, Q15051, Q17QH9, Q2IA00, Q32KY1, Q3USS3, Q3V079, Q3ZC62, Q45GW3, Q4R6T7, Q4R7Y8, Q4R8R3, Q4R8Y5, Q4V8E4, Q5PQQ6, Q5XI65, Q5XIR6, Q6P0R8, Q6P5U8, Q7T0Y4, Q7Z4T9, Q80VN0, Q8BP00, Q8BRC6, Q8C6E0, Q8C9J3, Q8CDK3, Q8CDV6, Q8HZY8, Q8NA47, Q8NA54, Q8NCU4, Q8ND07

Diamond homologs: Q8NCU4, Q95KD7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	114
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1077161	GRCh37/hg19 3q13.31(chr3:113623035-114368128)x1	Pathogenic

SpliceAI

2869 predictions. Top by Δscore:

Variant	Effect	Δscore
3:113965360:C:CC	acceptor_gain	1.0000
3:113965362:T:TC	acceptor_gain	1.0000
3:113978328:CGTA:C	acceptor_gain	1.0000
3:113978329:GTA:G	acceptor_gain	1.0000
3:113978329:GTAC:G	acceptor_loss	1.0000
3:113978332:C:A	acceptor_loss	1.0000
3:113978332:C:CC	acceptor_gain	1.0000
3:113978333:T:C	acceptor_loss	1.0000
3:113978338:A:C	acceptor_gain	1.0000
3:113978345:C:CT	acceptor_gain	1.0000
3:113978346:A:T	acceptor_gain	1.0000
3:113978852:CCTTA:C	donor_loss	1.0000
3:113978853:CTTA:C	donor_loss	1.0000
3:113978854:TTACC:T	donor_loss	1.0000
3:113978855:TA:T	donor_loss	1.0000
3:113978857:CCTG:C	donor_loss	1.0000
3:113980644:GTGTA:G	donor_loss	1.0000
3:113980645:TGTAC:T	donor_loss	1.0000
3:113980646:GTACC:G	donor_loss	1.0000
3:113980647:TACCT:T	donor_loss	1.0000
3:113980648:A:T	donor_loss	1.0000
3:113980790:CTTT:C	acceptor_gain	1.0000
3:113980791:TTT:T	acceptor_gain	1.0000
3:113980791:TTTC:T	acceptor_loss	1.0000
3:113980792:TT:T	acceptor_gain	1.0000
3:113980794:C:CC	acceptor_gain	1.0000
3:113980794:CT:C	acceptor_loss	1.0000
3:113980804:T:C	acceptor_gain	1.0000
3:113980804:T:TC	acceptor_gain	1.0000
3:114001592:AAC:A	donor_loss	1.0000

AlphaMissense

6226 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:114018844:A:G	W333R	0.986
3:114018844:A:T	W333R	0.986
3:113980688:A:G	W757R	0.984
3:113980688:A:T	W757R	0.984
3:114036617:T:A	R195S	0.980
3:114036617:T:G	R195S	0.980
3:114018754:A:G	W363R	0.978
3:114018754:A:T	W363R	0.978
3:114036723:A:G	L160P	0.969
3:114010960:A:G	W409R	0.968
3:114010960:A:T	W409R	0.968
3:114035135:C:G	R203P	0.961
3:114018784:A:G	W353R	0.960
3:114018784:A:T	W353R	0.960
3:114036618:C:G	R195T	0.956
3:114034973:C:G	R257P	0.955
3:113965236:G:C	F910L	0.952
3:113965236:G:T	F910L	0.952
3:113965238:A:G	F910L	0.952
3:114010958:C:A	W409C	0.952
3:114010958:C:G	W409C	0.952
3:114018752:C:A	W363C	0.951
3:114018752:C:G	W363C	0.951
3:114018842:C:A	W333C	0.951
3:114018842:C:G	W333C	0.951
3:114035126:C:G	R206P	0.951
3:114042707:A:C	F137L	0.951
3:114042707:A:T	F137L	0.951
3:114042709:A:G	F137L	0.951
3:114002525:T:A	R664S	0.950

dbSNP variants (sampled 300 via entrez): RS1000031383 (3:113985480 A>G), RS1000040874 (3:113998902 G>A), RS1000134358 (3:113991582 G>C), RS1000162439 (3:114027804 C>T), RS1000171401 (3:114013047 T>G), RS1000234273 (3:114028326 C>T), RS1000254664 (3:113969931 C>T), RS1000374088 (3:113983680 C>T), RS1000413839 (3:113998558 G>A), RS1000450745 (3:114012668 T>C), RS1000466290 (3:114035382 A>C,G,T), RS1000467995 (3:113985991 G>C), RS1000471723 (3:113975954 C>G,T), RS1000602419 (3:114056069 A>G), RS1000631629 (3:113968622 T>TTTTG)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:615433

GenCC curated gene-disease

Mondo (1): chromosome 3q13.31 deletion syndrome (MONDO:0014185)

Orphanet (1): 3q13 microdeletion syndrome (Orphanet:1621)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C536808	Chromosome 3, monosomy 3q13 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression	2
Acetaminophen	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
2-palmitoylglycerol	increases expression	1
jinfukang	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Benzo(a)pyrene	decreases expression	1
Estradiol	affects expression	1
Nickel	decreases expression	1
Plant Extracts	increases expression, affects cotreatment	1
Tobacco Smoke Pollution	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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