MIA2

MIA SH3 domain ER export factor 2, the group of CTAGE family|MIA family

Basic information

Region (hg38): 14:39230231-39388513

Previous symbols: [ "CTAGE5", "MGEA", "MGEA6" ]

Links

ENSG00000150527 ∙ NCBI:4253 ∙ OMIM:602132 ∙ HGNC:18432 ∙ Uniprot:Q96PC5 ∙ 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 MIA2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIA2 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				4	1	5
missense			107	13	1	121
nonsense						0
start loss			1			1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2	4	1	7
Total	0	0	110	21	3

Variants in MIA2

This is a list of pathogenic ClinVar variants found in the MIA2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
14-39234141-C-G		not specified	Uncertain significance (Jan 17, 2025)
14-39234152-C-G		not specified	Uncertain significance (Feb 27, 2023)
14-39234172-C-G		not specified	Uncertain significance (Sep 08, 2024)
14-39236950-A-C		not specified	Uncertain significance (Sep 30, 2024)
14-39237002-A-G		not specified	Uncertain significance (Jul 27, 2024)
14-39237024-C-A		not specified	Uncertain significance (Jan 16, 2024)
14-39237033-G-A		not specified	Uncertain significance (Feb 28, 2023)
14-39240565-G-A		not specified	Uncertain significance (May 01, 2024)
14-39240572-G-T		not specified	Likely benign (Oct 27, 2022)
14-39240643-C-T		not specified	Uncertain significance (Jan 04, 2024)
14-39246977-G-A		not specified	Likely benign (Sep 10, 2024)
14-39246977-G-C		not specified	Uncertain significance (Oct 01, 2024)
14-39246977-G-T		not specified	Uncertain significance (May 05, 2023)
14-39247037-T-C		not specified	Uncertain significance (Jan 27, 2025)
14-39247105-A-C		not specified	Uncertain significance (Jan 23, 2023)
14-39247124-C-T		not specified	Uncertain significance (Aug 20, 2024)
14-39247136-G-A		not specified	Likely benign (Aug 26, 2022)
14-39247187-G-A		not specified	Uncertain significance (Aug 04, 2024)
14-39247216-C-T			Likely benign (Apr 01, 2022)
14-39247220-C-T			Likely benign (Feb 01, 2024)
14-39247236-C-A		not specified	Uncertain significance (Oct 03, 2024)
14-39247296-C-T		not specified	Uncertain significance (Jun 22, 2023)
14-39247314-A-G		not specified	Uncertain significance (Jul 26, 2024)
14-39247346-G-A		not specified	Uncertain significance (Feb 07, 2025)
14-39247449-C-G		not specified	Uncertain significance (Nov 25, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MIA2	protein_coding	protein_coding	ENST00000396158	24	121669

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000103	1.00	125711	0	37	125748	0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.877	447	398	1.12	0.0000188	5261
Missense in Polyphen		46	55.699	0.82587		825
Synonymous	-1.69	159	134	1.19	0.00000629	1467
Loss of Function	3.92	19	48.5	0.392	0.00000240	634

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000366	0.000366
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.0000551	0.0000544
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000164	0.000158
Middle Eastern	0.0000551	0.0000544
South Asian	0.000172	0.000163
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP