CEMIP2

cell migration inducing hyaluronidase 2, the group of Hyaluronidases

Basic information

Region (hg38): 9:71683366-71816690

Previous symbols: [ "TMEM2" ]

Links

ENSG00000135048 ∙ NCBI:23670 ∙ OMIM:605835 ∙ HGNC:11869 ∙ Uniprot:Q9UHN6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CEMIP2 gene.

• not_specified (189 variants)
• not_provided (4 variants)
• Retinal_dystrophy (2 variants)
• Inguinal_hernia (2 variants)
• Myopia (2 variants)
• Abnormal_sternum_morphology (2 variants)
• Joint_laxity (2 variants)
• Hypertelorism (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEMIP2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000013390.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				4		4
missense	1		181	8		190
nonsense	1					1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	2	0	181	12	0

Highest pathogenic variant AF is 0.0000068458735

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CEMIP2	protein_coding	protein_coding	ENST00000377044	23	133325

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.68e-13	1.00	125666	0	82	125748	0.000326

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.918	698	770	0.907	0.0000417	9099
Missense in Polyphen		107	159.5	0.67085		1841
Synonymous	0.467	274	284	0.965	0.0000159	2668
Loss of Function	3.94	32	66.7	0.479	0.00000361	782

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000470	0.000470
Ashkenazi Jewish	0.000499	0.000496
East Asian	0.000218	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.000486	0.000484
Middle Eastern	0.000218	0.000217
South Asian	0.0000980	0.0000980
Other	0.000174	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cell surface hyaluronidase that mediates the initial cleavage of extracellular high-molecular-weight hyaluronan into intermediate-size hyaluronan of approximately 5 kDa fragments (PubMed:28246172). Acts as a regulator of angiogenesis and heart morphogenesis by mediating degradation of extracellular hyaluronan, thereby regulating VEGF signaling (By similarity). Is very specific to hyaluronan; not able to cleave chondroitin sulfate or dermatan sulfate (PubMed:28246172). {ECO:0000250|UniProtKB:A3KPQ7, ECO:0000269|PubMed:28246172}.

Recessive Scores

• pRec: 0.133

Intolerance Scores

• rvis_EVS: -0.47
• rvis_percentile_EVS: 22.84

Haploinsufficiency Scores

• pHI: 0.0751
• hipred: Y
• hipred_score: 0.540
• ghis: 0.485

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Cemip2

Zebrafish Information Network

• Gene name: cemip2
• Affected structure: fast muscle cell
• Phenotype tag: abnormal
• Phenotype quality: detached from

Gene ontology

• Biological process: angiogenesis;hyaluronan catabolic process;regulation of sprouting angiogenesis
• Cellular component: integral component of plasma membrane;integral component of membrane;extracellular exosome
• Molecular function: hyalurononglucosaminidase activity;calcium ion binding;cadherin binding