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TMEM121B transmembrane protein 121B [ Homo sapiens (human) ]

Gene ID: 27439, updated on 5-Mar-2024

Summary

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Official Symbol
TMEM121Bprovided by HGNC
Official Full Name
transmembrane protein 121Bprovided by HGNC
Primary source
HGNC:HGNC:1844
See related
Ensembl:ENSG00000183307 AllianceGenome:HGNC:1844
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
CECR6
Expression
Biased expression in brain (RPKM 5.3), prostate (RPKM 2.9) and 6 other tissues See more
Orthologs
mouse all
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Genomic context

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See TMEM121B in Genome Data Viewer
Location:
22q11.1
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (17116297..17121360, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (17793180..17798243, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (17597187..17602250, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18610 Neighboring gene cat eye syndrome chromosome region, candidate 7 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62188 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17538919-17539419 Neighboring gene Sharpr-MPRA regulatory region 13635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13428 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62270 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13429 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13430 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13432 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13431 Neighboring gene interleukin 17 receptor A Neighboring gene ribosomal protein L31 pseudogene 62 Neighboring gene MPRA-validated peak4440 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18611 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:17587847-17589046 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13433 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17602677-17603208 Neighboring gene long intergenic non-protein coding RNA 1664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17618528-17619235 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17619236-17619942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17624261-17624761 Neighboring gene haloacid dehalogenase like hydrolase domain containing 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13434 Neighboring gene HDHD5 antisense RNA 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere. Footz TK, et al. Genome Res, 2001 Jun. PMID 11381032, Free PMC Article
  2. The PcG protein hPc2 interacts with the N-terminus of histone demethylase JARID1B and acts as a transcriptional co-repressor. Zhou W, et al. BMB Rep, 2009 Mar 31. PMID 19336002
  3. A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. Cai DC, et al. Genes Brain Behav, 2014 Sep. PMID 25130324
  4. Genome-wide CRISPR screening reveals genetic modifiers of mutant EGFR dependence in human NSCLC. Zeng H, et al. Elife, 2019 Nov 19. PMID 31741433, Free PMC Article
  5. New genetic associations detected in a host response study to hepatitis B vaccine. Davila S, et al. Genes Immun, 2010 Apr. PMID 20237496

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: New genetic associations detected in a host response study to hepatitis B vaccine.
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 genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

General protein information

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Preferred Names
transmembrane protein 121B
Names
cat eye syndrome chromosome region, candidate 6
cat eye syndrome critical region protein 6

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)

  1. NM_001163079.2 → NP_001156551.1  transmembrane protein 121B isoform b

    See identical proteins and their annotated locations for NP_001156551.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter and distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AC006946, AK095609, BQ006940
    Consensus CDS
    CCDS54494.1
    UniProtKB/Swiss-Prot
    Q9BXQ6
    Related
    ENSP00000382764.1, ENST00000399875.1
    Conserved Domains (1) summary
    pfam14997
    Location:1 → 161
    CECR6_TMEM121; CECR6/TMEM121 family

  2. NM_031890.4 → NP_114096.1  transmembrane protein 121B isoform a

    See identical proteins and their annotated locations for NP_114096.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC006946, AF307451, AK055398, BG472529, BQ006940, CN365831
    Consensus CDS
    CCDS13740.1
    UniProtKB/Swiss-Prot
    A8MYY1, Q9BXQ6
    Related
    ENSP00000329318.3, ENST00000331437.4
    Conserved Domains (1) summary
    pfam14997
    Location:312 → 516
    CECR6_TMEM121; CECR6/TMEM121 family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    17116297..17121360 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011546124.3 → XP_011544426.1  transmembrane protein 121B isoform X1

    See identical proteins and their annotated locations for XP_011544426.1

    UniProtKB/Swiss-Prot
    A8MYY1, Q9BXQ6
    Conserved Domains (1) summary
    pfam14997
    Location:312 → 516
    CECR6_TMEM121; CECR6/TMEM121 family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    17793180..17798243 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054325561.1 → XP_054181536.1  transmembrane protein 121B isoform X1

    UniProtKB/Swiss-Prot
    A8MYY1, Q9BXQ6
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BXQ6.1 GenPept UniProtKB/Swiss-Prot:Q9BXQ6

Gene LinkOut

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