TMEM114

protein-coding

transmembrane protein 114

Gene summary

This gene encodes a glycosylated transmembrane protein that plays a role in lens and eye development. Mutations in this gene, including a t(16;22)(p13.3;q11.2) translocation, are associated with congenital and juvenile cataract disorders. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]

MANE transcript

NM_001146336.2

Inheritance

—

ClinVar variants

B:2

Top phenotype

TMEM114-related disorder

gnomAD constraint

pLI —, LoF o/e 0.8

Max pathogenic AF

—

Genomic locus

chr16:8,537,605-8,590,511

External References & Databases

Ensembl (ENSG00000232258)

Transcript & Mutation Effects

hg38 • Region Span ~52.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TMEM114 variants in ClinVar

1 Conditions Cataloged

TMEM114-related disorderTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001146336.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	2	0	2

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001146336.2	RefSeq	NP_001139808.1	4	MANE Select
ENST00000620492.5	Ensembl	ENSP00000484263.1	4	MANE Select
NM_001290095.2	RefSeq	NP_001277024.1	3	Standard
NM_001290097.2	RefSeq	NP_001277026.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

integral component of membrane
apical plasma membrane
apicolateral plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000568335
Coding exons: 2
Length: 2803
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.360	81	72.4	1.12	0.00000426	781
Missense (PolyPhen)		21	26.095	0.80475		282
Synonymous	-0.401	38	35.0	1.09	0.00000226	269
Loss of Function	0.294	2	2.50	0.800	1.06e-7	32

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Disease: DISEASE: Note=Chromosomal aberrations involving TMEM114 may be a cause of congenital and juvenile cataracts. Translocation t(16;22) (p13.3;q11.2). {ECO:0000269|PubMed:17492639}.;

Essentials

Indispensability pred.: E
Indispensability score: 0.673