CIMIP5

Summary

CIMIP5 (ciliary microtubule inner protein 5, HGNC:26324) is a protein-coding gene on chromosome 2p25.1, encoding Ciliary microtubule inner protein 5 (Q96LR7).

Located in cilium.

Source: NCBI Gene 130813 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 7 total — 1 pathogenic
• MANE Select transcript: NM_001371321

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26324
Approved symbol	CIMIP5
Name	ciliary microtubule inner protein 5
Location	2p25.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ25143
Ensembl gene	ENSG00000150873
Ensembl biotype	protein_coding
Entrez	130813

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000381585, ENST00000405022, ENST00000866929

RefSeq mRNA: 3 — MANE Select: NM_001371321 NM_001371320, NM_001371321, NM_182500

CCDS: CCDS1678

Canonical transcript exons

ENST00000381585 — 3 exons

Exon	Start	End
ENSE00000996578	11140510	11140549
ENSE00001489180	11143920	11151317
ENSE00001489182	11133128	11133591

Expression profiles

Bgee: expression breadth broad, 91 present calls, max score 85.71.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2260 / max 25.3442, expressed in 106 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
18867	0.2260	106

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	85.71	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	75.15	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	72.76	silver quality
oviduct epithelium	UBERON:0004804	71.78	gold quality
buccal mucosa cell	CL:0002336	70.96	silver quality
bronchial epithelial cell	CL:0002328	70.86	gold quality
bronchus	UBERON:0002185	70.05	gold quality
fallopian tube	UBERON:0003889	67.60	gold quality
prefrontal cortex	UBERON:0000451	66.04	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	65.91	gold quality
ventricular zone	UBERON:0003053	63.84	gold quality
frontal cortex	UBERON:0001870	61.89	gold quality
Brodmann (1909) area 9	UBERON:0013540	61.46	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	61.42	gold quality
neocortex	UBERON:0001950	61.34	gold quality
cortical plate	UBERON:0005343	60.53	gold quality
right frontal lobe	UBERON:0002810	60.26	gold quality
anterior cingulate cortex	UBERON:0009835	60.08	gold quality
primary visual cortex	UBERON:0002436	59.79	gold quality
cerebral cortex	UBERON:0000956	59.55	gold quality
ganglionic eminence	UBERON:0004023	59.00	gold quality
nucleus accumbens	UBERON:0001882	58.99	gold quality
hypothalamus	UBERON:0001898	58.65	gold quality
caudate nucleus	UBERON:0001873	58.56	gold quality
putamen	UBERON:0001874	58.24	gold quality
secondary oocyte	CL:0000655	58.12	gold quality
Brodmann (1909) area 46	UBERON:0006483	58.02	silver quality
forebrain	UBERON:0001890	58.01	gold quality
tendon of biceps brachii	UBERON:0008188	57.62	gold quality
nasal cavity mucosa	UBERON:0001826	57.50	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

9 targeting CIMIP5, 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-8075	99.97	67.20	962
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-367-5P	98.84	67.18	902
HSA-MIR-5011-3P	98.63	64.81	638
HSA-MIR-6884-3P	98.05	65.32	750
HSA-MIR-6748-3P	97.20	65.66	836
HSA-MIR-4695-3P	96.71	67.21	836
HSA-MIR-3918	96.13	64.65	1300

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
danio_rerio	cimip5	ENSDARG00000078140
rattus_norvegicus	C6h2orf50	ENSRNOG00000024338

Paralogs (1): CIMIP1 (ENSG00000124237)

Protein

Protein identifiers

Ciliary microtubule inner protein 5 — Q96LR7 (reviewed: Q96LR7)

All UniProt accessions (1): Q96LR7

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cell projection. Cilium.

RefSeq proteins (3): NP_001358249, NP_001358250, NP_872306 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR020339	C20orf85-like	Family

Pfam: PF14945

UniProt features (2 total): chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96LR7-F1	70.36	0.18

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 44 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, GSE45365_NK_CELL_VS_CD11B_DC_UP, chr2p25, GOCC_CILIUM, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GSE13522_WT_VS_IFNAR_KO_SKING_T_CRUZI_Y_STRAIN_INF_DN, GSE5503_MLN_DC_VS_SPLEEN_DC_ACTIVATED_ALLOGENIC_TCELL_UP, GSE14415_NATURAL_TREG_VS_FOXP3_KO_NATURAL_TREG_DN, E2F2_TARGET_GENES, FOXJ2_TARGET_GENES, HES4_TARGET_GENES, MIER1_TARGET_GENES, ZNF184_TARGET_GENES, ZNF2_TARGET_GENES, ZNF410_TARGET_GENES

GO Biological Process (0):

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

GO Cellular Component (2): cilium (GO:0005929), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cellular anatomical structure	1

Protein interactions and networks

STRING

124 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CIMIP5	SNAPC4	Q5SXM2	583
CIMIP5	AK9	Q5TCS8	582
CIMIP5	PTPN18	Q99952	507
CIMIP5	USP36	Q9P275	431
CIMIP5	SNX2	P82862	404
CIMIP5	HOMEZ	Q8IX15	349
CIMIP5	TYW3	Q6IPR3	349
CIMIP5	MTERF4	Q7Z6M4	292
CIMIP5	VEGFB	P49765	256
CIMIP5	CST3	P01034	248
CIMIP5	CNDP1	Q96KN2	246
CIMIP5	VEZF1	Q14119	215
CIMIP5	TRAK1	Q9UPV9	213
CIMIP5	ATN1	P54259	213
CIMIP5	AUTS2	Q8WXX7	194

IntAct

13 interactions, top by confidence:

A	B	Type	Score
GSTA4	CIMIP5	psi-mi:“MI:0915”(physical association)	0.720
CIMIP5	GSTA4	psi-mi:“MI:0915”(physical association)	0.720
CIMIP5	NRBP1	psi-mi:“MI:0915”(physical association)	0.560
CFTR	CIMIP5	psi-mi:“MI:0915”(physical association)	0.370
CIMIP5	PI4KA	psi-mi:“MI:0914”(association)	0.350
CIMIP5	UNC119B	psi-mi:“MI:0914”(association)	0.350
CIMIP5	GSTA4	psi-mi:“MI:0915”(physical association)	0.000
NRBP1	CIMIP5	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (12): C2orf50 (Two-hybrid), C2orf50 (Two-hybrid), GSTA4 (Two-hybrid), ZYG11B (Affinity Capture-MS), PI4KA (Affinity Capture-MS), FAM126A (Affinity Capture-MS), FAM126B (Affinity Capture-MS), TTC7B (Affinity Capture-MS), TXN2 (Affinity Capture-MS), UNC119B (Affinity Capture-MS), C2orf50 (PCA), C2orf50 (Two-hybrid)

ESM2 similar proteins: A0A1B0GTD5, A0A1B0GTJ6, A0A1B0GUX0, A0A3Q1MT14, A0JNL1, A5PJD8, B9EJX3, E1B9R1, E1BNS6, F1MMV1, Q0P591, Q148A4, Q14BB9, Q1JPL0, Q2KJ10, Q2MH31, Q2T9T0, Q2TA11, Q32L72, Q32L77, Q3V0Q6, Q5BN46, Q5PQN4, Q5RBH3, Q5RHU7, Q5SPV6, Q5SVJ3, Q5VTT2, Q5VZQ5, Q66HR9, Q6AYM0, Q7Z5V6, Q8CDU5, Q8N5S3, Q8N865, Q8NA69, Q8NCR6, Q8NEG2, Q95LU0, Q96K30

Diamond homologs: Q1JPL0, Q96LR7

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	1
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
154445	GRCh38/hg38 2p25.1-24.3(chr2:10790663-14417134)x3	Pathogenic

SpliceAI

837 predictions. Top by Δscore:

Variant	Effect	Δscore
2:11144119:G:GT	donor_gain	1.0000
2:11133588:GCTG:G	donor_gain	0.9900
2:11133589:CTG:C	donor_gain	0.9900
2:11133589:CTGG:C	donor_loss	0.9900
2:11133590:TG:T	donor_gain	0.9900
2:11133590:TGG:T	donor_loss	0.9900
2:11133591:GG:G	donor_gain	0.9900
2:11133591:GGTG:G	donor_loss	0.9900
2:11133592:G:GG	donor_gain	0.9900
2:11133593:T:A	donor_loss	0.9900
2:11143917:CAG:C	acceptor_loss	0.9900
2:11143918:A:AC	acceptor_loss	0.9900
2:11143918:A:AG	acceptor_gain	0.9900
2:11143919:G:GA	acceptor_loss	0.9900
2:11143919:G:GG	acceptor_gain	0.9900
2:11133587:CGCTG:C	donor_gain	0.9800
2:11133588:GCTGG:G	donor_gain	0.9800
2:11140508:AG:A	acceptor_gain	0.9800
2:11140509:GG:G	acceptor_gain	0.9800
2:11143918:AG:A	acceptor_gain	0.9800
2:11143919:GG:G	acceptor_gain	0.9800
2:11133594:GAG:G	donor_loss	0.9700
2:11140504:TTCCA:T	acceptor_loss	0.9700
2:11140505:TCCA:T	acceptor_loss	0.9700
2:11140507:CAGG:C	acceptor_loss	0.9700
2:11140508:AGG:A	acceptor_loss	0.9700
2:11140509:G:A	acceptor_loss	0.9700
2:11143969:C:CA	acceptor_gain	0.9700
2:11143976:A:AG	acceptor_gain	0.9700
2:11143977:G:GG	acceptor_gain	0.9700

AlphaMissense

1046 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:11140526:T:C	F92L	0.982
2:11140528:C:A	F92L	0.982
2:11140528:C:G	F92L	0.982
2:11143920:G:C	G100R	0.935
2:11143965:T:C	F115L	0.933
2:11143967:T:A	F115L	0.933
2:11143967:T:G	F115L	0.933
2:11140520:T:A	W90R	0.931
2:11140520:T:C	W90R	0.931
2:11133590:T:A	W86R	0.927
2:11133590:T:C	W86R	0.927
2:11133566:G:C	A78P	0.924
2:11140527:T:C	F92S	0.922
2:11143921:G:T	G100V	0.914
2:11143921:G:A	G100D	0.911
2:11133550:G:C	W72C	0.907
2:11133550:G:T	W72C	0.907
2:11140510:G:C	W86C	0.904
2:11140510:G:T	W86C	0.904
2:11143920:G:T	G100C	0.902
2:11140522:G:C	W90C	0.900
2:11140522:G:T	W90C	0.900
2:11144049:G:C	D143H	0.897
2:11140527:T:G	F92C	0.884
2:11133552:G:C	R73P	0.878
2:11140543:C:A	D97E	0.878
2:11140543:C:G	D97E	0.878
2:11144028:G:A	G136R	0.873
2:11144028:G:C	G136R	0.873
2:11144029:G:A	G136E	0.873

dbSNP variants (sampled 300 via entrez): RS1000010440 (2:11133881 C>A,T), RS1000071511 (2:11153938 A>G), RS1000363893 (2:11133309 C>CGT), RS1000390233 (2:11151655 G>A), RS1000497315 (2:11139918 C>G,T), RS1000731376 (2:11134830 G>A), RS1000882373 (2:11147671 G>A,C), RS1000886789 (2:11151443 T>C), RS1001087133 (2:11141477 G>T), RS1001282321 (2:11150833 G>A,C), RS1001321996 (2:11150168 G>A), RS1001498508 (2:11145527 G>A,T), RS1001559844 (2:11141899 C>A,T), RS1001578160 (2:11147781 C>T), RS1001824576 (2:11145347 T>C)

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

1 associations (top):

Study	Trait	p-value
GCST001823_15	Metabolite levels (HVA/MHPG ratio)	6.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005131	HVA measurement
EFO:0005133	MHPG measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Smoke	increases abundance, increases expression	2
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	decreases methylation	1
Folic Acid	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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