LETM2 leucine zipper and EF-hand containing transmembrane protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LETM2provided by HGNC
Official Full Name: leucine zipper and EF-hand containing transmembrane protein 2provided by HGNC
Primary source: HGNC:HGNC:14648
See related: Ensembl:ENSG00000165046 MIM:620380; AllianceGenome:HGNC:14648
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SLC55A2
Summary: Predicted to enable transmembrane transporter activity. Predicted to be involved in mitochondrial calcium ion transmembrane transport and mitochondrion organization. Located in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in testis (RPKM 3.0), brain (RPKM 0.6) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p11.23

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (38382431..38409527)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (38659474..38686498)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (38243994..38267045)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-Z40977 (e-PCR)
- UniSTS:24967

D8S135 (e-PCR)
- UniSTS:146913

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ribosome binding	IEA Inferred from Electronic Annotation more info
enables transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in mitochondrial calcium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrion organization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: LETM1 domain-containing protein LETM2, mitochondrial

Names: LETM1 and EF-hand domain-containing protein 2; leucine zipper-EF-hand containing transmembrane protein 1-like protein; leucine zipper-EF-hand containing transmembrane protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001199659.3 → NP_001186588.1 LETM1 domain-containing protein LETM2, mitochondrial isoform 1

See identical proteins and their annotated locations for NP_001186588.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes isoform (1).

Source sequence(s)

AC087623, AY173945, BC069830

Consensus CDS

CCDS56534.1

UniProtKB/TrEMBL

B4DY93

Related

ENSP00000428765.2, ENST00000523983.6

Conserved Domains (1) summary

pfam07766
Location:77 → 331

LETM1; LETM1-like protein
NM_001199660.3 → NP_001186589.1 LETM1 domain-containing protein LETM2, mitochondrial isoform 3

See identical proteins and their annotated locations for NP_001186589.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1. Variants 3 and 4 enocode the same isoform (3).

Source sequence(s)

AC087623, BC024250, BC069830

Conserved Domains (1) summary

pfam07766
Location:1 → 182

LETM1; LETM1-like protein
NM_001286787.2 → NP_001273716.1 LETM1 domain-containing protein LETM2, mitochondrial isoform 3

See identical proteins and their annotated locations for NP_001273716.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) uses two alternate splice sites in the 5' UTR which results in the use of a downstream start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1. Variants 3 and 4 enocode the same isoform (3).

Source sequence(s)

AC087623, BC069830

Conserved Domains (1) summary

pfam07766
Location:1 → 182

LETM1; LETM1-like protein
NM_001286819.2 → NP_001273748.1 LETM1 domain-containing protein LETM2, mitochondrial isoform 4

See identical proteins and their annotated locations for NP_001273748.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) uses two alternate splice sites in the coding region which results in the use of an upstream AUG, compared to variant 1. The encoded isoform (4) has a longer N-terminus compared to isoform 1.

Source sequence(s)

AC087623

Consensus CDS

CCDS69466.1

UniProtKB/Swiss-Prot

A6NMG3, Q2VYF4, Q8NCR2, Q96LL1

UniProtKB/TrEMBL

B4DY93

Related

ENSP00000369291.4, ENST00000379957.9

Conserved Domains (1) summary

pfam07766
Location:124 → 378

LETM1; LETM1-like protein
NM_001286821.2 → NP_001273750.1 LETM1 domain-containing protein LETM2, mitochondrial isoform 5

See identical proteins and their annotated locations for NP_001273750.1

Status: VALIDATED

Description

Transcript Variant: This variant (6) differs in both UTR's and the coding region and uses an alternate start codon, compared to variant 1. This results in an isoform (5) that is shorter and has distinct N- and C-termini, compared to isoform 1.

Source sequence(s)

AC087623, AK289944, AL832241

Consensus CDS

CCDS75731.1

UniProtKB/TrEMBL

A8K1M9, E5RIY3, E5RK40

Related

ENSP00000429269.2, ENST00000519476.6

Conserved Domains (1) summary

pfam07766
Location:124 → 167

LETM1; LETM1-like protein
NM_001330515.2 → NP_001317444.1 LETM1 domain-containing protein LETM2, mitochondrial isoform 6

Status: VALIDATED

Source sequence(s)

AC087623, BC069830, BJ989830, CB242043, CV024670

Consensus CDS

CCDS83282.1

UniProtKB/TrEMBL

B4DY93, E9PMA4

Related

ENSP00000431211.1, ENST00000524874.5
NM_001363204.1 → NP_001350133.1 LETM1 domain-containing protein LETM2, mitochondrial isoform 7 precursor

Status: VALIDATED

Source sequence(s)

AC087623, BC069830

Conserved Domains (1) summary

pfam07766
Location:2 → 204

LETM1; LETM1-like protein
NM_001363205.1 → NP_001350134.1 LETM1 domain-containing protein LETM2, mitochondrial isoform 3

Status: VALIDATED

Source sequence(s)

AC087623, BC069830, BP198673

Conserved Domains (1) summary

pfam07766
Location:1 → 182

LETM1; LETM1-like protein
NM_144652.4 → NP_653253.1 LETM1 domain-containing protein LETM2, mitochondrial isoform 2

See identical proteins and their annotated locations for NP_653253.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC087623, AK058138, BC069830

Consensus CDS

CCDS6106.1

UniProtKB/TrEMBL

B4DY93

Related

ENSP00000297720.5, ENST00000297720.9

Conserved Domains (1) summary

pfam07766
Location:77 → 283

LETM1; LETM1-like protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

38382431..38409527

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017013056.2 → XP_016868545.1 LETM1 domain-containing protein LETM2, mitochondrial isoform X1

UniProtKB/Swiss-Prot

A6NMG3, Q2VYF4, Q8NCR2, Q96LL1

UniProtKB/TrEMBL

B4DY93

Conserved Domains (1) summary

pfam07766
Location:124 → 378

LETM1; LETM1-like protein
XM_017013053.2 → XP_016868542.1 LETM1 domain-containing protein LETM2, mitochondrial isoform X1

UniProtKB/Swiss-Prot

A6NMG3, Q2VYF4, Q8NCR2, Q96LL1

UniProtKB/TrEMBL

B4DY93

Conserved Domains (1) summary

pfam07766
Location:124 → 378

LETM1; LETM1-like protein
XM_047421383.1 → XP_047277339.1 LETM1 domain-containing protein LETM2, mitochondrial isoform X2

UniProtKB/TrEMBL

B4DY93
XM_011544408.3 → XP_011542710.1 LETM1 domain-containing protein LETM2, mitochondrial isoform X3

UniProtKB/TrEMBL

B4DY93

Conserved Domains (1) summary

pfam07766
Location:124 → 378

LETM1; LETM1-like protein
XM_017013051.2 → XP_016868540.1 LETM1 domain-containing protein LETM2, mitochondrial isoform X1

UniProtKB/Swiss-Prot

A6NMG3, Q2VYF4, Q8NCR2, Q96LL1

UniProtKB/TrEMBL

B4DY93

Conserved Domains (1) summary

pfam07766
Location:124 → 378

LETM1; LETM1-like protein
XM_017013055.2 → XP_016868544.1 LETM1 domain-containing protein LETM2, mitochondrial isoform X1

UniProtKB/Swiss-Prot

A6NMG3, Q2VYF4, Q8NCR2, Q96LL1

UniProtKB/TrEMBL

B4DY93

Conserved Domains (1) summary

pfam07766
Location:124 → 378

LETM1; LETM1-like protein
XM_017013052.2 → XP_016868541.1 LETM1 domain-containing protein LETM2, mitochondrial isoform X1

UniProtKB/Swiss-Prot

A6NMG3, Q2VYF4, Q8NCR2, Q96LL1

UniProtKB/TrEMBL

B4DY93

Conserved Domains (1) summary

pfam07766
Location:124 → 378

LETM1; LETM1-like protein
XM_017013054.2 → XP_016868543.1 LETM1 domain-containing protein LETM2, mitochondrial isoform X1

UniProtKB/Swiss-Prot

A6NMG3, Q2VYF4, Q8NCR2, Q96LL1

UniProtKB/TrEMBL

B4DY93

Conserved Domains (1) summary

pfam07766
Location:124 → 378

LETM1; LETM1-like protein
XM_011544410.3 → XP_011542712.1 LETM1 domain-containing protein LETM2, mitochondrial isoform X4

See identical proteins and their annotated locations for XP_011542712.1

UniProtKB/Swiss-Prot

Q2VYF4

Related

ENSP00000434867.1, ENST00000527710.5

Conserved Domains (1) summary

pfam07766
Location:2 → 164

LETM1; LETM1-like protein

RNA

XR_007060702.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

38659474..38686498

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054359786.1 → XP_054215761.1 LETM1 domain-containing protein LETM2, mitochondrial isoform X1

UniProtKB/Swiss-Prot

A6NMG3, Q2VYF4, Q8NCR2, Q96LL1

UniProtKB/TrEMBL

B4DY93
XM_054359781.1 → XP_054215756.1 LETM1 domain-containing protein LETM2, mitochondrial isoform X1

UniProtKB/Swiss-Prot

A6NMG3, Q2VYF4, Q8NCR2, Q96LL1

UniProtKB/TrEMBL

B4DY93
XM_054359787.1 → XP_054215762.1 LETM1 domain-containing protein LETM2, mitochondrial isoform X2

UniProtKB/TrEMBL

B4DY93
XM_054359788.1 → XP_054215763.1 LETM1 domain-containing protein LETM2, mitochondrial isoform X3

UniProtKB/TrEMBL

B4DY93
XM_054359785.1 → XP_054215760.1 LETM1 domain-containing protein LETM2, mitochondrial isoform X1

UniProtKB/Swiss-Prot

A6NMG3, Q2VYF4, Q8NCR2, Q96LL1

UniProtKB/TrEMBL

B4DY93
XM_054359784.1 → XP_054215759.1 LETM1 domain-containing protein LETM2, mitochondrial isoform X1

UniProtKB/Swiss-Prot

A6NMG3, Q2VYF4, Q8NCR2, Q96LL1

UniProtKB/TrEMBL

B4DY93
XM_054359783.1 → XP_054215758.1 LETM1 domain-containing protein LETM2, mitochondrial isoform X1

UniProtKB/Swiss-Prot

A6NMG3, Q2VYF4, Q8NCR2, Q96LL1

UniProtKB/TrEMBL

B4DY93
XM_054359782.1 → XP_054215757.1 LETM1 domain-containing protein LETM2, mitochondrial isoform X1

UniProtKB/Swiss-Prot

A6NMG3, Q2VYF4, Q8NCR2, Q96LL1

UniProtKB/TrEMBL

B4DY93
XM_054359789.1 → XP_054215764.1 LETM1 domain-containing protein LETM2, mitochondrial isoform X4