POM121L2 POM121 transmembrane nucleoporin like 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: POM121L2provided by HGNC
Official Full Name: POM121 transmembrane nucleoporin like 2provided by HGNC
Primary source: HGNC:HGNC:13973
See related: Ensembl:ENSG00000158553 AllianceGenome:HGNC:13973
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: POM121L; POM121-L
Summary: Predicted to enable nuclear localization sequence binding activity. Predicted to be a structural constituent of nuclear pore. Predicted to be involved in RNA export from nucleus and protein import into nucleus. Predicted to be part of nuclear pore. [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: mouse all
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Genomic context

Location:: 6p22.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (27308377..27312273, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (27177485..27181380, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (27276156..27280052, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Common variants on chromosome 6p22.1 are associated with schizophrenia.

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

EBI GWAS Catalog

Description
A comprehensive family-based replication study of schizophrenia genes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants on chromosome 6p22.1 are associated with schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

D6S2335 (e-PCR)
- UniSTS:58198

D6S2336 (e-PCR)
- UniSTS:15358

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables nuclear localization sequence binding	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of nuclear pore	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in RNA export from nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein import into nucleus	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of nuclear pore	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: POM121-like protein 2

Names: OM121 membrane glycoprotein (rat homolog)-like 2; POM121 membrane glycoprotein (rat homolog)-like 2; POM121 membrane glycoprotein-like 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_033482.4 → NP_258443.2 POM121-like protein 2

See identical proteins and their annotated locations for NP_258443.2

Status: VALIDATED

Source sequence(s)

AL021808

Consensus CDS

CCDS59497.1

UniProtKB/Swiss-Prot

C9J1I7, Q96KW2

Related

ENSP00000392726.1, ENST00000444565.2

Conserved Domains (1) summary

pfam15229
Location:164 → 365

POM121; POM121 family

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_000006.12 Reference GRCh38.p14 Primary Assembly

Range

27308377..27312273 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

27177485..27181380 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NG_008890.1: Suppressed sequence

Description

NG_008890.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.