CCDC157

Summary

CCDC157 (coiled-coil domain containing 157, HGNC:33854) is a protein-coding gene on chromosome 22q12.2, encoding Coiled-coil domain-containing protein 157 (Q569K6).

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 172 total
• MANE Select transcript: NM_001017437

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33854
Approved symbol	CCDC157
Name	coiled-coil domain containing 157
Location	22q12.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000187860
Ensembl biotype	protein_coding
OMIM	619391
Entrez	550631

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 2 retained_intron

ENST00000338306, ENST00000399824, ENST00000405659, ENST00000430839, ENST00000445005, ENST00000475975, ENST00000482413, ENST00000943832

RefSeq mRNA: 3 — MANE Select: NM_001017437 NM_001017437, NM_001318334, NM_001318335

CCDS: CCDS33632, CCDS82707

Canonical transcript exons

ENST00000338306 — 12 exons

Exon	Start	End
ENSE00001368261	30371650	30371727
ENSE00001369826	30370326	30370950
ENSE00001388550	30375479	30375663
ENSE00001491876	30361961	30362114
ENSE00001491878	30357007	30357132
ENSE00001611097	30365990	30366248
ENSE00003470716	30373923	30374091
ENSE00003513029	30373597	30373764
ENSE00003517184	30369432	30369603
ENSE00003517459	30376433	30378673
ENSE00003596583	30372075	30372286
ENSE00003624876	30376259	30376347

Expression profiles

Bgee: expression breadth ubiquitous, 171 present calls, max score 92.08.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.9053 / max 96.5322, expressed in 1282 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
191675	1.2398	608
191674	1.0472	614
191673	0.5159	238
191676	0.0785	24
191677	0.0238	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	92.08	gold quality
left testis	UBERON:0004533	89.28	gold quality
right testis	UBERON:0004534	89.22	gold quality
buccal mucosa cell	CL:0002336	89.16	gold quality
sperm	CL:0000019	87.33	silver quality
testis	UBERON:0000473	85.75	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	80.78	gold quality
cortical plate	UBERON:0005343	78.98	gold quality
oocyte	CL:0000023	77.80	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	77.17	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.20	silver quality
ventricular zone	UBERON:0003053	75.14	gold quality
adenohypophysis	UBERON:0002196	75.07	gold quality
prefrontal cortex	UBERON:0000451	74.89	gold quality
tibialis anterior	UBERON:0001385	74.22	silver quality
granulocyte	CL:0000094	74.14	gold quality
pituitary gland	UBERON:0000007	73.82	gold quality
right lobe of thyroid gland	UBERON:0001119	73.49	gold quality
hypothalamus	UBERON:0001898	73.35	gold quality
anterior cingulate cortex	UBERON:0009835	73.00	gold quality
left lobe of thyroid gland	UBERON:0001120	72.93	gold quality
metanephros cortex	UBERON:0010533	72.82	gold quality
secondary oocyte	CL:0000655	72.58	gold quality
right frontal lobe	UBERON:0002810	72.57	gold quality
bronchial epithelial cell	CL:0002328	72.44	gold quality
nucleus accumbens	UBERON:0001882	72.18	gold quality
Brodmann (1909) area 9	UBERON:0013540	72.10	gold quality
thyroid gland	UBERON:0002046	72.09	gold quality
neocortex	UBERON:0001950	71.88	gold quality
ganglionic eminence	UBERON:0004023	71.68	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.97
E-CURD-112	yes	7.97

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

66 targeting CCDC157, 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-4283	100.00	66.42	2097
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-3153	99.55	67.59	2337
HSA-MIR-4489	99.50	65.56	785
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-4677-3P	99.49	67.91	1246
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-4316	99.37	65.75	1360
HSA-MIR-504-3P	99.30	67.18	1745
HSA-MIR-3692-5P	99.29	67.04	1421
HSA-MIR-4641	99.28	66.64	744
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-149-5P	99.25	67.16	1315
HSA-MIR-4727-5P	99.23	67.55	1154
HSA-MIR-5787	99.22	67.86	2628

Literature-anchored findings (GeneRIF, showing 2)

• The CCDC157 is localized along the secretory pathway and was found to interact with resident proteins of ER-Golgi membranes. (PMID:31488582)
• CCDC157 is essential for sperm differentiation and shows oligoasthenoteratozoospermia-related mutations in men. (PMID:38509755)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	ccdc157	ENSDARG00000056279
mus_musculus	Ccdc157	ENSMUSG00000051427
rattus_norvegicus	Ccdc157	ENSRNOG00000005147
drosophila_melanogaster	SMC3	FBGN0015615
caenorhabditis_elegans		WBGENE00004873
caenorhabditis_elegans		WBGENE00012198
caenorhabditis_elegans		WBGENE00019087

Paralogs (7): SMC1A (ENSG00000072501), SMC1B (ENSG00000077935), SMC3 (ENSG00000108055), SMC4 (ENSG00000113810), CKAP4 (ENSG00000136026), SMC2 (ENSG00000136824), CCDC122 (ENSG00000151773)

Protein

Protein identifiers

Coiled-coil domain-containing protein 157 — Q569K6 (reviewed: Q569K6)

All UniProt accessions (4): A8MUK5, E7ETG3, E7EWT0, Q569K6

UniProt curated annotations — full annotation on UniProt →

RefSeq proteins (3): NP_001017437, NP_001305263, NP_001305264 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029681	CCDC157	Family

UniProt features (16 total): compositionally biased region 5, region of interest 4, sequence variant 3, coiled-coil region 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q569K6-F1	72.73	0.47

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 60 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, DODD_NASOPHARYNGEAL_CARCINOMA_DN, GSE5503_MLN_DC_VS_SPLEEN_DC_ACTIVATED_ALLOGENIC_TCELL_UP, CHAF1B_TARGET_GENES, FOXJ2_TARGET_GENES, FOXN3_TARGET_GENES, ZNF610_TARGET_GENES, MIR5584_5P, MIR4447, MIR5196_5P, MIR4747_5P, MIR4505, MIR5787, MIR24_3P, MIR6778_3P

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

260 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC157	RNF215	Q9Y6U7	419
CCDC157	TLCD5	Q6ZRR5	380
CCDC157	C10orf88	Q9H8K7	374
CCDC157	TMEM101	Q96IK0	371
CCDC157	AMZ1	Q400G9	370
CCDC157	LGALS16	A8MUM7	370
CCDC157	CCDC171	Q6TFL3	367
CCDC157	SACK1C	Q9BQN1	357
CCDC157	ZKSCAN4	Q969J2	317
CCDC157	TTC17	Q96AE7	311
CCDC157	EIF4EBP3	O60516	306
CCDC157	LRRC37A	A6NMS7	305
CCDC157	OSCP1	Q8WVF1	305
CCDC157	LRRC37A3	O60309	303
CCDC157	WIPF3	A6NGB9	299

IntAct

7 interactions, top by confidence:

A	B	Type	Score
CCDC157	NFATC2IP	psi-mi:“MI:0915”(physical association)	0.560
TCEA2	CCDC157	psi-mi:“MI:0915”(physical association)	0.560
CCDC157	NFATC2IP	psi-mi:“MI:0915”(physical association)	0.000
TCEA2	CCDC157	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (7): CCDC157 (Two-hybrid), CCDC157 (Two-hybrid), CCDC157 (Affinity Capture-MS), CCDC157 (Affinity Capture-MS), CCDC157 (Affinity Capture-MS), CCDC157 (Affinity Capture-MS), CCDC157 (Affinity Capture-MS)

ESM2 similar proteins: A1A4V9, A2A8U2, A4IFI1, A8E4X8, B0BMZ6, F1R7R1, G5E8P0, O75161, P12755, P59017, P59240, P85299, P97432, Q14DQ1, Q2HJA5, Q3B7M3, Q3U0L2, Q3ZBK7, Q3ZK22, Q53GS7, Q569K6, Q58DT5, Q5FVG6, Q5RAS2, Q5SNT2, Q5T7N3, Q5XI52, Q60698, Q6NZQ0, Q80U62, Q812A5, Q8C0R7, Q8C190, Q8CC12, Q8IWY9, Q8IYY4, Q8N9B5, Q8NFW9, Q8R1F1, Q8R322

Diamond homologs: A4IFI1, Q569K6, Q5SPX1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	144
Likely benign	11
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2384 predictions. Top by Δscore:

Variant	Effect	Δscore
22:30370317:T:A	acceptor_gain	1.0000
22:30373590:T:A	acceptor_gain	1.0000
22:30373595:A:AG	acceptor_gain	1.0000
22:30373596:G:GA	acceptor_gain	1.0000
22:30373596:GT:G	acceptor_gain	1.0000
22:30373596:GTC:G	acceptor_gain	1.0000
22:30373596:GTCT:G	acceptor_gain	1.0000
22:30373731:G:GT	donor_gain	1.0000
22:30373761:GCAG:G	donor_gain	1.0000
22:30373765:G:GC	donor_loss	1.0000
22:30373766:T:G	donor_loss	1.0000
22:30375637:G:GT	donor_gain	1.0000
22:30375637:G:T	donor_gain	1.0000
22:30376257:A:AG	acceptor_gain	1.0000
22:30376257:AGCT:A	acceptor_gain	1.0000
22:30376258:G:GA	acceptor_gain	1.0000
22:30376258:GC:G	acceptor_gain	1.0000
22:30376258:GCT:G	acceptor_gain	1.0000
22:30376258:GCTG:G	acceptor_gain	1.0000
22:30376346:GG:G	donor_gain	1.0000
22:30376347:GG:G	donor_gain	1.0000
22:30356725:GGTAC:G	donor_loss	0.9900
22:30356726:GTAC:G	donor_loss	0.9900
22:30356727:TA:T	donor_loss	0.9900
22:30356728:A:AT	donor_loss	0.9900
22:30366245:ACAGG:A	donor_loss	0.9900
22:30366246:CAG:C	donor_loss	0.9900
22:30366247:AG:A	donor_loss	0.9900
22:30366248:GGTG:G	donor_loss	0.9900
22:30366249:G:GC	donor_loss	0.9900

AlphaMissense

4861 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:30366118:T:A	W40R	0.994
22:30366118:T:C	W40R	0.994
22:30366124:T:C	F42L	0.993
22:30366126:C:A	F42L	0.993
22:30366126:C:G	F42L	0.993
22:30366120:G:C	W40C	0.992
22:30366120:G:T	W40C	0.992
22:30366236:T:C	L79P	0.992
22:30369451:A:C	S90R	0.992
22:30369453:C:A	S90R	0.992
22:30369453:C:G	S90R	0.992
22:30366248:G:T	R83M	0.991
22:30366062:T:C	L21P	0.988
22:30366123:G:C	K41N	0.988
22:30366123:G:T	K41N	0.988
22:30366245:A:C	D82A	0.988
22:30366248:G:C	R83T	0.988
22:30369432:G:C	R83S	0.986
22:30369432:G:T	R83S	0.986
22:30366053:T:C	L18P	0.985
22:30366245:A:T	D82V	0.985
22:30366227:T:C	L76P	0.983
22:30373611:G:C	K450N	0.982
22:30373611:G:T	K450N	0.982
22:30366116:C:T	S39F	0.981
22:30366121:A:G	K41E	0.981
22:30370730:G:C	W275C	0.980
22:30370730:G:T	W275C	0.980
22:30369434:T:C	L84P	0.979
22:30370728:T:A	W275R	0.979

dbSNP variants (sampled 300 via entrez): RS1000078259 (22:30363797 C>T), RS1000471745 (22:30368341 G>A,T), RS1000545210 (22:30368511 C>G,T), RS1000598881 (22:30362518 C>A), RS1000937942 (22:30356181 C>T), RS1001222109 (22:30361960 G>A,C), RS1001322780 (22:30363188 G>A), RS1001377847 (22:30358647 C>T), RS1001411936 (22:30358411 C>T), RS1001484839 (22:30356896 G>A,C), RS1001586005 (22:30363413 G>A,C), RS1001705080 (22:30365073 G>C), RS1001728427 (22:30378818 A>G), RS1002189 (22:30375469 T>A,C,G), RS1002305044 (22:30363611 G>A)

Disease associations

OMIM: gene MIM:619391 | 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
GCST002097_10	Coronary artery calcification	9.000000e-06
GCST90002383_105	Hematocrit	2.000000e-11

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004723	coronary artery calcification
EFO:0004348	hematocrit

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	decreases expression, increases abundance, increases expression	2
Smoke	increases expression, decreases expression, increases abundance	2
Particulate Matter	increases expression, decreases expression, increases abundance	2
triphenyl phosphate	affects expression	1
trichostatin A	affects expression	1
beta-lapachone	decreases expression	1
abrine	increases expression	1
Sunitinib	increases expression	1
Leflunomide	decreases expression	1
Cisplatin	decreases expression	1
Rotenone	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Cyclosporine	increases methylation	1

Clinical trials (associated diseases)

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