Format

Send to:

Choose Destination

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

Gene ID: 27439, updated on 22-Aug-2020

Summary

Official Symbol
TMEM121Bprovided by HGNC
Official Full Name
transmembrane protein 121Bprovided by HGNC
Primary source
HGNC:HGNC:1844
See related
Ensembl:ENSG00000183307
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

Genomic context

See TMEM121B in Genome Data Viewer
Location:
22q11.1
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (17116297..17121360, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (17597189..17602257, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene cat eye syndrome chromosome region, candidate 7 Neighboring gene interleukin 17 receptor A Neighboring gene ribosomal protein L31 pseudogene 62 Neighboring gene long intergenic non-protein coding RNA 1664 Neighboring gene haloacid dehalogenase like hydrolase domain containing 5 Neighboring gene HDHD5 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001163079.2NP_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:1161
    CECR6_TMEM121; CECR6/TMEM121 family
  2. NM_031890.4NP_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
    Q9BXQ6
    Related
    ENSP00000329318.3, ENST00000331437.4
    Conserved Domains (1) summary
    pfam14997
    Location:312516
    CECR6_TMEM121; CECR6/TMEM121 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011546125.2XP_011544427.1  transmembrane protein 121B isoform X2

    Conserved Domains (1) summary
    pfam14997
    Location:101289
    CECR6_TMEM121; CECR6/TMEM121 family
  2. XM_011546124.2XP_011544426.1  transmembrane protein 121B isoform X1

    See identical proteins and their annotated locations for XP_011544426.1

    UniProtKB/Swiss-Prot
    Q9BXQ6
    Conserved Domains (1) summary
    pfam14997
    Location:312516
    CECR6_TMEM121; CECR6/TMEM121 family
Support Center