CRIM1

Summary

CRIM1 (cysteine rich transmembrane BMP regulator 1, HGNC:2359) is a protein-coding gene on chromosome 2p22.2, encoding Cysteine-rich motor neuron 1 protein (Q9NZV1). May play a role in CNS development by interacting with growth factors implicated in motor neuron differentiation and survival.

This gene encodes a transmembrane protein containing six cysteine-rich repeat domains and an insulin-like growth factor-binding domain. The encoded protein may play a role in tissue development though interactions with members of the transforming growth factor beta family, such as bone morphogenetic proteins.

Source: NCBI Gene 51232 — RefSeq curated summary.

At a glance

• Gene–disease (curated): colobomatous macrophthalmia-microcornea syndrome (Supportive, GenCC)
• GWAS associations: 27
• Clinical variants (ClinVar): 252 total — 2 likely-pathogenic
• MANE Select transcript: NM_016441

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2359
Approved symbol	CRIM1
Name	cysteine rich transmembrane BMP regulator 1
Location	2p22.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000150938
Ensembl biotype	protein_coding
OMIM	606189
Entrez	51232

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 15 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000280527, ENST00000413985, ENST00000426856, ENST00000428774, ENST00000473403, ENST00000477491, ENST00000481321, ENST00000497236, ENST00000868088, ENST00000928036, ENST00000928037, ENST00000928038, ENST00000928039, ENST00000928040, ENST00000965717, ENST00000965718, ENST00000965719, ENST00000965720, ENST00000965721

RefSeq mRNA: 1 — MANE Select: NM_016441 NM_016441

CCDS: CCDS1783

Canonical transcript exons

ENST00000280527 — 17 exons

Exon	Start	End
ENSE00000397108	36476889	36477071
ENSE00000746311	36396614	36396787
ENSE00001071998	36548525	36551135
ENSE00001072061	36355778	36356623
ENSE00001153767	36546984	36547171
ENSE00001153772	36544376	36544498
ENSE00001153778	36537352	36537546
ENSE00001153785	36522092	36522313
ENSE00001153794	36517327	36517542
ENSE00001153800	36513556	36513765
ENSE00001153809	36512273	36512394
ENSE00001153816	36509983	36510139
ENSE00001153822	36499219	36499347
ENSE00001153829	36479497	36479694
ENSE00001153851	36442615	36442735
ENSE00001153859	36441258	36441500
ENSE00003785164	36464534	36464655

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 99.46.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 54.8819 / max 2112.8195, expressed in 1695 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
19708	42.4222	1687
19740	10.1914	1199
19734	0.7662	396
19727	0.4434	264
19741	0.3047	136
19735	0.2612	138
202156	0.2491	112
19726	0.2173	94
19724	0.0264	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
saphenous vein	UBERON:0007318	99.46	gold quality
renal medulla	UBERON:0000362	99.17	gold quality
superficial temporal artery	UBERON:0001614	99.14	gold quality
mammary duct	UBERON:0001765	99.06	gold quality
pericardium	UBERON:0002407	99.00	gold quality
renal glomerulus	UBERON:0000074	98.90	gold quality
germinal epithelium of ovary	UBERON:0001304	98.79	gold quality
metanephric glomerulus	UBERON:0004736	98.74	gold quality
urethra	UBERON:0000057	98.64	gold quality
vena cava	UBERON:0004087	98.64	gold quality
epithelium of mammary gland	UBERON:0003244	98.59	gold quality
mucosa of paranasal sinus	UBERON:0005030	98.45	gold quality
right coronary artery	UBERON:0001625	98.42	gold quality
placenta	UBERON:0001987	98.41	gold quality
blood vessel layer	UBERON:0004797	98.41	gold quality
pigmented layer of retina	UBERON:0001782	98.27	gold quality
cauda epididymis	UBERON:0004360	98.25	gold quality
retina	UBERON:0000966	98.24	gold quality
parietal pleura	UBERON:0002400	98.24	gold quality
lower lobe of lung	UBERON:0008949	98.24	gold quality
stromal cell of endometrium	CL:0002255	97.82	gold quality
synovial joint	UBERON:0002217	97.70	gold quality
choroid plexus epithelium	UBERON:0003911	97.64	gold quality
pleura	UBERON:0000977	97.61	gold quality
popliteal artery	UBERON:0002250	97.51	gold quality
tibial artery	UBERON:0007610	97.50	gold quality
endothelial cell	CL:0000115	97.40	gold quality
artery	UBERON:0001637	97.40	gold quality
aorta	UBERON:0000947	97.35	gold quality
decidua	UBERON:0002450	97.29	gold quality

Single-cell (SCXA)

Detected in 12 experiment(s), a significant marker in 9.

Experiment	Marker?	Max mean expression
E-MTAB-7051	yes	3929.69
E-MTAB-6108	yes	157.45
E-GEOD-135922	yes	38.76
E-CURD-119	yes	28.43
E-HCAD-35	yes	20.85
E-HCAD-9	yes	14.37
E-CURD-46	yes	9.12
E-MTAB-5061	yes	5.82
E-GEOD-81383	no	1028.57
E-ANND-2	no	694.65
E-CURD-135	no	576.94
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

202 targeting CRIM1, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345

Literature-anchored findings (GeneRIF, showing 15)

• CRIM1 has a role in capillary formation and maintenance during angiogenesis (PMID:12464430)
• CRIM1 modulates BMP activity by affecting its processing and delivery to the cell surface (PMID:12805376)
• Study demonstrated that CRIM1 is expressed at high levels in resistant leukemia cells, indicating that CRIM1 may play a role in drug-resistance. (PMID:21036735)
• BMPs inhibitor CRIM1 is increased and correlates with higher levels of serum PIPIII showing an imbalance in favor of pro-fibrotic mechanisms in CHF. (PMID:24617547)
• CRIM1 is an early response gene in the presence of both angiogenic stimulation (VEGF) and environmental (extracellular matrix) factors, and Erk and FAK might be involved in the upregulation of CRIM1 mRNA expression in vascular endothelial cells. (PMID:25086356)
• Data suggest that CRIM1 plays role in cancer progression/metastasis, epithelial-mesenchymal transition, and neoplastic angiogenesis. [REVIEW] (PMID:25088037)
• CRIM1 is the causative gene for Colobomatous macrophthalmia with microcornea syndrome and is important for eye development. (PMID:25561690)
• Knock down of CRIM1 had no effect on VEGF-induced proliferation or migration of umbilical vein endothelial cells (HUVECs), indicating that basal CRIM1 is not involved in the proliferation or migration of endothelial cells. (PMID:25956066)
• These observations provide evidence for the first time that CRIM1 plays a role in cancer cells by enhancing the migration and adhesion and increasing the expression of N-CAD and E-CAD. (PMID:26653968)
• these findings implicate CRIM1 in endothelial cell development and homeostasis in the coronary vasculature. (PMID:27803996)
• CRIM1 regulates the expression of several epithelial-mesenchymal transition (EMT) related factors and appears to play a role in suppressing migration and invasion through control of EMT. (PMID:29607933)
• We propose here a series of intracellular events where CRIM1 regulation of the ERK pathway prevents UV-induced cell proliferation and may play an important role in the in the pathogenesis of pterygium. (PMID:30365943)
• Homozygote CRIM1 variant is associated with thiopurine-induced neutropenia in leukemic patients with both wildtype NUDT15 and TPMT. (PMID:32611418)
• CircCRIM1 mediates proliferation, migration, and invasion of trophoblast cell through regulating miR-942-5p/IL1RAP axis. (PMID:37382169)
• Silencing of long non-coding RNA SDCBP2-AS1/microRNA-656-3p/CRIM1 axis promotes ferroptosis of lung cancer cells. (PMID:37807311)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	crim1	ENSDARG00000029668
mus_musculus	Crim1	ENSMUSG00000024074
rattus_norvegicus	Crim1	ENSRNOG00000004208

Paralogs (19): CHRDL2 (ENSG00000054938), CHRD (ENSG00000090539), CHRDL1 (ENSG00000101938), TECTA (ENSG00000109927), VWF (ENSG00000110799), MUC5B (ENSG00000117983), KCP (ENSG00000135253), ZAN (ENSG00000146839), BMPER (ENSG00000164619), OTOGL (ENSG00000165899), VWCE (ENSG00000167992), VWC2L (ENSG00000174453), MUC6 (ENSG00000184956), OTOG (ENSG00000188162), VWC2 (ENSG00000188730), MUC2 (ENSG00000198788), MUC19 (ENSG00000205592), MUC5AC (ENSG00000215182), FCGBP (ENSG00000275395)

Protein

Protein identifiers

Cysteine-rich motor neuron 1 protein — Q9NZV1 (reviewed: Q9NZV1)

Alternative names: Cysteine-rich repeat-containing protein S52

All UniProt accessions (4): Q9NZV1, H7C1Z0, H7C2T6, H7C458

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in CNS development by interacting with growth factors implicated in motor neuron differentiation and survival. May play a role in capillary formation and maintenance during angiogenesis. Modulates BMP activity by affecting its processing and delivery to the cell surface.

Subunit / interactions. Interacts with BMP4 and BMP7.

Subcellular location. Secreted Cell membrane.

Tissue specificity. Expressed in pancreas, kidney, skeletal muscle, lung, placenta, brain, heart, spleen, liver and small intestine. Expressed in blood vessels (at protein level).

Post-translational modifications. N-glycosylated.

RefSeq proteins (1): NP_057525* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000867	IGFBP-like	Domain
IPR001007	VWF_dom	Domain
IPR004094	Antistasin-like	Domain
IPR009030	Growth_fac_rcpt_cys_sf	Homologous_superfamily
IPR011061	Hirudin/antistatin	Homologous_superfamily
IPR045813	CRIM1_C	Domain
IPR052624	CRIM1	Family

Pfam: PF00093, PF00219, PF02822, PF19442, PF23334

UniProt features (33 total): domain 11, disulfide bond 6, glycosylation site 5, chain 2, topological domain 2, sequence variant 2, signal peptide 1, short sequence motif 1, modified residue 1, sequence conflict 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NZV1-F1	66.79	0.02

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 1035

Disulfide bonds (6): 37–60, 40–62, 45–63, 51–66, 74–90, 84–109

Glycosylation sites (5): 71, 113, 330, 474, 746

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 426 (showing top): GCACCTT_MIR18A_MIR18B, MODULE_52, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, YAGI_AML_WITH_INV_16_TRANSLOCATION, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_OSTEOBLAST_DIFFERENTIATION, TATTATA_MIR374, MCBRYAN_PUBERTAL_TGFB1_TARGETS_UP, GGGTGGRR_PAX4_03, CEBPB_01, FOXD3_01, MODULE_118, MARTINEZ_RB1_TARGETS_UP, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS

GO Biological Process (4): nervous system development (GO:0007399), negative regulation of BMP signaling pathway (GO:0030514), negative regulation of osteoblast differentiation (GO:0045668), insulin-like growth factor receptor signaling pathway (GO:0048009)

GO Molecular Function (5): serine-type endopeptidase inhibitor activity (GO:0004867), insulin-like growth factor receptor activity (GO:0005010), PDZ domain binding (GO:0030165), enzyme inhibitor activity (GO:0004857), protein binding (GO:0005515)

GO Cellular Component (3): extracellular region (GO:0005576), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
system development	1
BMP signaling pathway	1
regulation of BMP signaling pathway	1
negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	1
negative regulation of cellular response to growth factor stimulus	1
osteoblast differentiation	1
negative regulation of cell differentiation	1
regulation of osteoblast differentiation	1
cell surface receptor protein tyrosine kinase signaling pathway	1
serine-type endopeptidase activity	1
endopeptidase inhibitor activity	1
transmembrane receptor protein tyrosine kinase activity	1
insulin-like growth factor binding	1
insulin-like growth factor receptor signaling pathway	1
protein domain specific binding	1
catalytic activity	1
enzyme regulator activity	1
molecular function inhibitor activity	1
binding	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

1680 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CRIM1	FEZ2	Q9UHY8	892
CRIM1	VPS41	P49754	770
CRIM1	SPAST	Q9UBP0	654
CRIM1	BMP4	P12644	566
CRIM1	WT1	P19544	526
CRIM1	RPS21	P35265	506
CRIM1	TGFB2	P08112	460
CRIM1	FOXQ1	Q9C009	444
CRIM1	LDAF1	Q96B96	442
CRIM1	SEMA3G	Q9NS98	439
CRIM1	SHH	Q15465	433
CRIM1	MEGF6	O75095	431
CRIM1	CUX2	O14529	410
CRIM1	LDB2	O43679	410
CRIM1	TGFB1	P01137	402

IntAct

24 interactions, top by confidence:

A	B	Type	Score
CRIM1	ATXN7	psi-mi:“MI:0915”(physical association)	0.370
CACNA1A	CRIM1	psi-mi:“MI:0915”(physical association)	0.370
CRIM1	GAMMAHV.ORF33	psi-mi:“MI:0915”(physical association)	0.370
	ESYT2	psi-mi:“MI:0914”(association)	0.350
	PGRMC1	psi-mi:“MI:0914”(association)	0.350
	SNAP23	psi-mi:“MI:0914”(association)	0.350
	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
	SHTN1	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
	TNFRSF10A	psi-mi:“MI:0914”(association)	0.350
ST14	LIPT2	psi-mi:“MI:0914”(association)	0.350
ADAMTS1	NOP14	psi-mi:“MI:0914”(association)	0.350
EGFL7	LAMA5	psi-mi:“MI:0914”(association)	0.350
INHBE	LAMA5	psi-mi:“MI:0914”(association)	0.350
KRBA1	TRIO	psi-mi:“MI:0914”(association)	0.350
RNASE3	RNASEH1	psi-mi:“MI:0914”(association)	0.350
WNT9A	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
MFSD14A	FAM171A2	psi-mi:“MI:0914”(association)	0.350
SLC4A1	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
CRIM1	anmK	psi-mi:“MI:0915”(physical association)	0.000
rnb	CRIM1	psi-mi:“MI:0915”(physical association)	0.000
DYRK1A	CRIM1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (39): CRIM1 (Affinity Capture-RNA), CRIM1 (Affinity Capture-RNA), CRIM1 (Protein-RNA), CRIM1 (Affinity Capture-MS), CRIM1 (Affinity Capture-MS), CRIM1 (Affinity Capture-MS), CRIM1 (Affinity Capture-MS), CRIM1 (Proximity Label-MS), CRIM1 (Proximity Label-MS), CRIM1 (Proximity Label-MS), CRIM1 (Proximity Label-MS), CRIM1 (Proximity Label-MS), CRIM1 (Proximity Label-MS), CRIM1 (Proximity Label-MS), CRIM1 (Affinity Capture-RNA)

ESM2 similar proteins: A0A0R4IKU3, A1A5Y0, A2ASQ1, A2VCU8, A6QR11, O42182, O55225, P01130, P01131, P01132, P01133, P07522, P20063, P25304, P31696, P35950, P35951, P35952, P97607, Q00968, Q14393, Q28832, Q501P1, Q53RD9, Q5R3Z7, Q61220, Q61592, Q62918, Q62919, Q63772, Q66PY1, Q6ZRI0, Q75N90, Q7T3Q2, Q7ZXL5, Q8AWW5, Q8CJ69, Q8IX30, Q8N8U9, Q8R4Y4

Diamond homologs: A1A5Y0, A2VCU8, A4IGL7, A5A8Y8, A6QR11, B5DFC9, O75095, O88322, P07996, P10493, P14585, P35441, P35448, P82279, P98118, Q14112, Q20911, Q24025, Q28178, Q2PC93, Q2VWQ2, Q3MHH9, Q5FW85, Q5R3Z7, Q61220, Q62918, Q62919, Q6AZ60, Q6GUQ1, Q6MG84, Q75N90, Q7T3Q2, Q7ZXL5, Q80T14, Q8AVH7, Q8AWW5, Q8VHS2, Q90827, Q90ZD5, Q91X17

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	2
Uncertain significance	157
Likely benign	22
Benign	15

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
3062629	GRCh37/hg19 2p22.2(chr2:36768262-36961723)x1	Likely pathogenic
3062648	GRCh37/hg19 2p22.2(chr2:36732352-36824417)x1	Likely pathogenic

SpliceAI

4692 predictions. Top by Δscore:

Variant	Effect	Δscore
2:36356621:AAGGT:A	donor_loss	1.0000
2:36356622:AGGTA:A	donor_loss	1.0000
2:36356623:GGTA:G	donor_loss	1.0000
2:36356624:G:C	donor_loss	1.0000
2:36360065:G:GT	donor_gain	1.0000
2:36360068:G:GG	donor_gain	1.0000
2:36381967:ATT:A	acceptor_gain	1.0000
2:36396612:A:AG	acceptor_gain	1.0000
2:36396613:G:GG	acceptor_gain	1.0000
2:36396787:GGTAA:G	donor_loss	1.0000
2:36396788:GTAAG:G	donor_loss	1.0000
2:36396789:T:A	donor_loss	1.0000
2:36442613:A:AG	acceptor_gain	1.0000
2:36442614:G:GA	acceptor_gain	1.0000
2:36442733:AAGGT:A	donor_loss	1.0000
2:36442735:GGT:G	donor_loss	1.0000
2:36442736:GTT:G	donor_loss	1.0000
2:36442737:T:A	donor_loss	1.0000
2:36476877:A:AG	acceptor_gain	1.0000
2:36476878:A:G	acceptor_gain	1.0000
2:36476879:C:G	acceptor_gain	1.0000
2:36476884:TTCAG:T	acceptor_loss	1.0000
2:36476886:CAG:C	acceptor_loss	1.0000
2:36476887:A:AG	acceptor_gain	1.0000
2:36476888:G:GG	acceptor_gain	1.0000
2:36476888:GA:G	acceptor_gain	1.0000
2:36476888:GAT:G	acceptor_gain	1.0000
2:36476888:GATA:G	acceptor_gain	1.0000
2:36476888:GATAC:G	acceptor_gain	1.0000
2:36477072:G:C	donor_loss	1.0000

AlphaMissense

6834 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:36513641:G:C	W622C	1.000
2:36513641:G:T	W622C	1.000
2:36517415:G:C	W693C	1.000
2:36517415:G:T	W693C	1.000
2:36522186:G:C	W767C	1.000
2:36522186:G:T	W767C	1.000
2:36537419:G:C	W832C	1.000
2:36537419:G:T	W832C	1.000
2:36396760:T:A	C160S	0.999
2:36396761:G:C	C160S	0.999
2:36441287:T:A	C179S	0.999
2:36441287:T:C	C179R	0.999
2:36441288:G:C	C179S	0.999
2:36441311:T:A	C187S	0.999
2:36441311:T:C	C187R	0.999
2:36441312:G:C	C187S	0.999
2:36441323:T:C	S191P	0.999
2:36441338:G:T	G196C	0.999
2:36441380:T:A	C210S	0.999
2:36441380:T:C	C210R	0.999
2:36441381:G:C	C210S	0.999
2:36441386:T:A	C212S	0.999
2:36441386:T:C	C212R	0.999
2:36441387:G:C	C212S	0.999
2:36441473:T:A	C241S	0.999
2:36441473:T:C	C241R	0.999
2:36441474:G:C	C241S	0.999
2:36441476:T:A	C242S	0.999
2:36441477:G:C	C242S	0.999
2:36479570:G:C	W416C	0.999

dbSNP variants (sampled 300 via entrez): RS1000001620 (2:36434235 A>G), RS1000001808 (2:36545297 A>G), RS1000019181 (2:36450984 G>A), RS1000020188 (2:36543137 A>C,G), RS1000022339 (2:36400481 C>T), RS1000031285 (2:36361365 C>T), RS1000032329 (2:36484043 C>G,T), RS1000046863 (2:36540345 C>A), RS1000053145 (2:36395160 A>G), RS1000054367 (2:36429286 T>G), RS1000055026 (2:36400125 C>T), RS1000061934 (2:36362619 GC>G), RS1000073299 (2:36467966 G>A), RS1000087807 (2:36399897 T>A,C), RS1000091990 (2:36360664 T>C,G)

Disease associations

OMIM: gene MIM:606189 | disease phenotypes: MIM:602499

GenCC curated gene-disease

Disease	Classification	Inheritance
colobomatous macrophthalmia-microcornea syndrome	Supportive	Autosomal dominant

Mondo (1): colobomatous macrophthalmia-microcornea syndrome (MONDO:0011239)

Orphanet (1): Colobomatous macrophthalmia-microcornea syndrome (Orphanet:468672)

HPO phenotypes

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

GWAS associations

27 associations (top):

Study	Trait	p-value
GCST000327_8	Anthropometric traits	8.000000e-06
GCST002122_1	IgE levels in asthmatics	1.000000e-06
GCST002647_100	Height	4.000000e-14
GCST002702_4	Height	1.000000e-12
GCST003598_18	QRS duration	1.000000e-10
GCST003598_45	QRS duration	1.000000e-08
GCST006143_13	Bone mineral density (total hip)	8.000000e-06
GCST007103_3	QRS duration	2.000000e-14
GCST007104_3	QRS duration	7.000000e-23
GCST007565_36	Morning person	5.000000e-14
GCST007576_73	Chronotype	5.000000e-14
GCST008839_402	Height	3.000000e-10
GCST008839_572	Height	2.000000e-14
GCST008839_595	Height	4.000000e-19
GCST010796_1428	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-11
GCST010988_279	Adult body size	5.000000e-10
GCST011010_51	Electrocardiographic traits (multivariate)	3.000000e-08
GCST012226_157	Waist circumference adjusted for body mass index	7.000000e-10
GCST012227_1180	Hip circumference adjusted for BMI	1.000000e-10
GCST012227_1181	Hip circumference adjusted for BMI	5.000000e-10
GCST90000654_5	Central corneal thickness	5.000000e-10
GCST90002396_201	Mean reticulocyte volume	3.000000e-09
GCST90013466_42	Height	4.000000e-08
GCST90013466_64	Height	1.000000e-10
GCST90013468_7	Height	6.000000e-07
GCST90020028_23	Hip circumference adjusted for BMI	2.000000e-08
GCST90020028_24	Hip circumference adjusted for BMI	2.000000e-08

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004302	anthropometric measurement
EFO:0007702	hip bone mineral density
EFO:0008328	chronotype measurement
EFO:0004327	electrocardiography
EFO:0007789	BMI-adjusted waist circumference
EFO:0008039	BMI-adjusted hip circumference
EFO:0005213	central corneal thickness
EFO:0010701	mean reticulocyte volume

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C566533	Macrophthalmia, Colobomatous, with Microcornea (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

66 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases expression, increases methylation	6
Arsenic Trioxide	increases expression	4
trichostatin A	affects cotreatment, increases expression	3
Benzo(a)pyrene	decreases expression, increases methylation	3
Particulate Matter	decreases expression, increases abundance	3
graphene oxide	increases expression	2
methylmercuric chloride	increases expression	2
cobaltous chloride	decreases expression, decreases secretion	2
mercuric bromide	increases expression, affects cotreatment	2
Air Pollutants	decreases expression, increases abundance	2
Fluorouracil	affects response to substance, decreases expression, increases expression	2
Lipopolysaccharides	affects response to substance, affects cotreatment, decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Aflatoxin B1	decreases methylation, increases expression	2
aristolochic acid I	decreases expression	1
beauvericin	affects cotreatment, decreases expression	1
testosterone enanthate	affects expression	1
triphenyl phosphate	affects expression	1
potassium perchlorate	decreases expression	1
titanium dioxide	increases expression	1
cinnamaldehyde	increases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
afimoxifene	decreases expression, decreases reaction	1
benzo(e)pyrene	increases methylation	1
nickel sulfate	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
enniatins	affects cotreatment, decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	decreases methylation	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2V9	Abcam HEK293T CRIM1 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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