CROCC2

Summary

CROCC2 (ciliary rootlet coiled-coil, rootletin family member 2, HGNC:51677) is a protein-coding gene on chromosome 2q37.3, encoding Ciliary rootlet coiled-coil protein 2 (H7BZ55).

Predicted to be active in centriole and centrosome.

Source: NCBI Gene 728763 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 9 total
• MANE Select transcript: NM_001351305

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:51677
Approved symbol	CROCC2
Name	ciliary rootlet coiled-coil, rootletin family member 2
Location	2q37.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000226321
Ensembl biotype	protein_coding
OMIM	621300
Entrez	728763

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 2 retained_intron

ENST00000443866, ENST00000477311, ENST00000480779, ENST00000690015

RefSeq mRNA: 1 — MANE Select: NM_001351305 NM_001351305

CCDS: CCDS92994

Canonical transcript exons

ENST00000690015 — 32 exons

Exon	Start	End
ENSE00001596747	240965381	240965518
ENSE00001628959	240965636	240965993
ENSE00001650640	240982880	240983029
ENSE00001652103	240949533	240949702
ENSE00001656036	240932702	240932908
ENSE00001657141	240934331	240934475
ENSE00001658701	240964466	240964625
ENSE00001666059	240967345	240967465
ENSE00001666586	240933131	240933342
ENSE00001687151	240959301	240959444
ENSE00001696247	240918726	240918876
ENSE00001701719	240925724	240925880
ENSE00001712191	240991196	240991278
ENSE00001715362	240988739	240988870
ENSE00001717385	240922539	240922645
ENSE00001721099	240946060	240946253
ENSE00001733766	240930166	240930269
ENSE00001739656	240968129	240968262
ENSE00001753544	240933670	240933852
ENSE00001774914	240963556	240963773
ENSE00001779399	240948979	240949097
ENSE00001793372	240932318	240932414
ENSE00001795964	240993066	240993311
ENSE00001802425	240934916	240935062
ENSE00001803503	240935358	240935588
ENSE00001804433	240919983	240920134
ENSE00001805872	240989654	240989833
ENSE00003606521	240930931	240931128
ENSE00003756662	240955859	240955972
ENSE00003759517	240966225	240966409
ENSE00003923851	240950334	240950510
ENSE00003930047	240906336	240906591

Expression profiles

Bgee: expression breadth ubiquitous, 106 present calls, max score 94.86.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0836 / max 17.6953, expressed in 36 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
26475	0.0836	36

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	94.86	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	84.41	gold quality
fallopian tube	UBERON:0003889	72.03	gold quality
right lung	UBERON:0002167	67.11	gold quality
granulocyte	CL:0000094	66.07	gold quality
spleen	UBERON:0002106	65.96	gold quality
left uterine tube	UBERON:0001303	64.95	gold quality
monocyte	CL:0000576	64.36	gold quality
sural nerve	UBERON:0015488	64.27	silver quality
leukocyte	CL:0000738	63.61	gold quality
endometrium	UBERON:0001295	60.97	gold quality
endocervix	UBERON:0000458	59.57	gold quality
duodenum	UBERON:0002114	58.89	gold quality
pituitary gland	UBERON:0000007	56.94	gold quality
upper lobe of left lung	UBERON:0008952	56.39	gold quality
lung	UBERON:0002048	55.91	gold quality
liver	UBERON:0002107	54.26	gold quality
right lobe of liver	UBERON:0001114	53.88	gold quality
tibial nerve	UBERON:0001323	51.71	gold quality
lymph node	UBERON:0000029	51.66	gold quality
mucosa of stomach	UBERON:0001199	51.62	gold quality
adenohypophysis	UBERON:0002196	51.29	gold quality
blood	UBERON:0000178	50.30	gold quality
uterine cervix	UBERON:0000002	50.04	gold quality
gall bladder	UBERON:0002110	49.22	gold quality
vermiform appendix	UBERON:0001154	49.08	gold quality
hypothalamus	UBERON:0001898	49.05	gold quality
ovary	UBERON:0000992	47.83	gold quality
right ovary	UBERON:0002118	47.72	gold quality
left ovary	UBERON:0002119	47.33	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.37

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Crocc2	ENSMUSG00000084989
rattus_norvegicus	Crocc2	ENSRNOG00000063752

Paralogs (4): CROCC (ENSG00000058453), CEP250 (ENSG00000126001), TSGA10 (ENSG00000135951), CEP135 (ENSG00000174799)

Protein

Protein identifiers

Ciliary rootlet coiled-coil protein 2 — H7BZ55 (reviewed: H7BZ55)

All UniProt accessions (2): A0A8J8ZEH8, H7BZ55

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the rootletin family.

RefSeq proteins (1): NP_001338234* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR055167	Rootletin-like_CC	Domain

Pfam: PF15035

UniProt features (11 total): coiled-coil region 4, region of interest 3, compositionally biased region 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-H7BZ55-F1	72.71	0.01

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 14 (showing top): GOCC_MICROTUBULE_ORGANIZING_CENTER, GOCC_CENTROSOME, GOCC_CENTRIOLE, KOHOUTEK_CCNT2_TARGETS, LMTK3_TARGET_GENES, ZNF528_TARGET_GENES, chr2q37, DESCARTES_MAIN_FETAL_CILIATED_EPITHELIAL_CELLS, DESCARTES_FETAL_CEREBRUM_ASTROCYTES, DESCARTES_FETAL_LUNG_CILIATED_EPITHELIAL_CELLS, DESCARTES_FETAL_PANCREAS_ISLET_ENDOCRINE_CELLS, DESCARTES_FETAL_STOMACH_CILIATED_EPITHELIAL_CELLS, ZNF320_TARGET_GENES, GOCC_MICROTUBULE_CYTOSKELETON

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (2): centrosome (GO:0005813), centriole (GO:0005814)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
microtubule organizing center	2
centriole	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

514 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CROCC2	GOLGA8CP	A6NN73	580
CROCC2	A0A0G2JP48	A0A0G2JP48	545
CROCC2	WDR49	Q8IV35	507
CROCC2	LRRC45	Q96CN5	484
CROCC2	SLC2A4RG	Q9NR83	460
CROCC2	ZNF512B	Q96KM6	459
CROCC2	ARID3C	A6NKF2	453
CROCC2	MAB21L4	Q08AI8	447
CROCC2	PPP1R2C	O14990	447
CROCC2	SPATA20	Q8TB22	443
CROCC2	ARHGEF17	Q96PE2	428
CROCC2	TUBGCP2	Q9BSJ2	428
CROCC2	NEURL1B	A8MQ27	409
CROCC2	IGSF3	O75054	352
CROCC2	MED13L	Q71F56	345

IntAct

3 interactions, top by confidence:

A	B	Type	Score
CROCC2	H1-2	psi-mi:“MI:0915”(physical association)	0.400
M		psi-mi:“MI:0914”(association)	0.350

ESM2 similar proteins: A0JMK8, A0JNH6, A0JNT9, A1A5D9, A6NC98, A6NGB0, A7YWC8, A9QT41, B1MTG4, B3EX63, B7ZNG0, F6XLV1, H7BZ55, O15049, O75154, P0CF95, P58660, Q0V9T6, Q2KJ21, Q2M1P5, Q2TAC2, Q3LUD3, Q3TMW1, Q3UMT1, Q4QRL3, Q5ND29, Q5TZA2, Q60952, Q6NSJ2, Q6NZW0, Q6PGZ0, Q6PHN1, Q6QZQ4, Q6ZP65, Q7TMK6, Q8BP01, Q8C7U1, Q8CB62, Q8CHW5, Q8CJ40

Diamond homologs: F6XLV1, H7BZ55, Q5TZA2, Q60952, Q8CJ40, Q8IVE0, Q9BV73

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

7717 predictions. Top by Δscore:

Variant	Effect	Δscore
2:240920131:GCAG:G	donor_gain	1.0000
2:240920132:CAGG:C	donor_loss	1.0000
2:240920134:GGTG:G	donor_loss	1.0000
2:240920136:T:A	donor_loss	1.0000
2:240922643:GAG:G	donor_gain	1.0000
2:240922643:GAGG:G	donor_loss	1.0000
2:240922644:AGG:A	donor_loss	1.0000
2:240922645:GGTGA:G	donor_loss	1.0000
2:240922647:T:G	donor_loss	1.0000
2:240930929:AG:A	acceptor_gain	1.0000
2:240930930:GG:G	acceptor_gain	1.0000
2:240933340:G:GT	donor_gain	1.0000
2:240933340:G:T	donor_gain	1.0000
2:240933668:A:AG	acceptor_gain	1.0000
2:240933669:G:GG	acceptor_gain	1.0000
2:240933850:CAGG:C	donor_loss	1.0000
2:240933851:AG:A	donor_loss	1.0000
2:240933852:GG:G	donor_loss	1.0000
2:240933853:G:GA	donor_loss	1.0000
2:240934438:A:T	donor_gain	1.0000
2:240934449:G:T	donor_gain	1.0000
2:240935059:CCAGG:C	donor_loss	1.0000
2:240935062:GGTG:G	donor_loss	1.0000
2:240935063:G:GC	donor_loss	1.0000
2:240946250:TCAGG:T	donor_loss	1.0000
2:240946252:AGG:A	donor_loss	1.0000
2:240946254:G:GA	donor_loss	1.0000
2:240946254:G:GG	donor_gain	1.0000
2:240946255:T:A	donor_loss	1.0000
2:240949696:G:GT	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000003547 (2:240919642 C>T), RS1000068134 (2:240914524 G>A), RS1000116147 (2:240925923 T>A), RS1000118795 (2:240968573 G>A,C), RS1000131271 (2:240933587 C>T), RS1000168335 (2:240982803 C>T), RS1000185755 (2:240918690 C>A,T), RS1000187672 (2:240969424 CAG>C), RS1000204371 (2:240934697 C>A), RS1000236961 (2:240909580 G>A), RS1000300568 (2:240910547 C>T), RS1000305174 (2:240961073 G>A,C,T), RS1000314865 (2:240929757 C>G), RS1000316972 (2:240982699 T>C), RS1000322419 (2:240989121 C>T)

Disease associations

OMIM: gene MIM:621300 | 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

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression	2
Smoke	increases expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

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