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TMEM222 transmembrane protein 222 [ Homo sapiens (human) ]

Gene ID: 84065, updated on 7-Apr-2024

Summary

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Official Symbol
TMEM222provided by HGNC
Official Full Name
transmembrane protein 222provided by HGNC
Primary source
HGNC:HGNC:25363
See related
Ensembl:ENSG00000186501 MIM:619469; AllianceGenome:HGNC:25363
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
C1orf160; NEDMOSBA
Summary
Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 11.2), testis (RPKM 10.1) and 25 other tissues See more
Orthologs
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Genomic context

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See TMEM222 in Genome Data Viewer
Location:
1p36.11
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (27322163..27336400)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (27163397..27177637)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (27648654..27662891)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 503 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 504 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 506 Neighboring gene WDTC1 divergent transcript Neighboring gene WD and tetratricopeptide repeats 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 507 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27613415-27614057 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27615731-27616716 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27625813-27626326 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 541 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27627354-27627866 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27627867-27628380 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27633747-27634272 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27634273-27634798 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27634799-27635323 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27648068-27648614 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:27648615-27649162 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:27649163-27649709 Neighboring gene actin gamma 1 pseudogene 20 Neighboring gene RNA, U6 small nuclear 48, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 544 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27669148-27669765 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 545 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27673548-27674088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27674089-27674627 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 509 Neighboring gene synaptotagmin like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27685945-27686480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27686481-27687016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 546 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 510 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 511 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27692433-27693376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27693377-27694318 Neighboring gene mitogen-activated protein kinase kinase kinase 6

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. Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder. Polla DL, et al. Genet Med, 2021 Jul. PMID 33824500, Free PMC Article
  2. Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region. Lehner B, et al. Genomics, 2004 Jan. PMID 14667819
  3. Systematic identification of pathological lamin A interactors. Dittmer TA, et al. Mol Biol Cell, 2014 May. PMID 24623722, Free PMC Article
  4. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. Wiemann S, et al. Genome Res, 2001 Mar. PMID 11230166, Free PMC Article
  5. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

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

Associated conditions

Description Tests
Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities
MedGen: C5561954 OMIM: 619470 GeneReviews: Not available
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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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC111002, DKFZp564D0478

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in dendrite IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
transmembrane protein 222

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_032125.3 → NP_115501.2  transmembrane protein 222

    See identical proteins and their annotated locations for NP_115501.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes a protein.
    Source sequence(s)
    BC090039, DC424669
    Consensus CDS
    CCDS297.2
    UniProtKB/Swiss-Prot
    D3DPL6, Q53HD8, Q5FVE9, Q9H0R3
    UniProtKB/TrEMBL
    B4E1F7
    Related
    ENSP00000363189.4, ENST00000374076.9
    Conserved Domains (1) summary
    pfam05608
    Location:61 → 178
    DUF778; Protein of unknown function (DUF778)

RNA

  1. NR_037576.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an additional exon which includes an internal stop codon compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate, so will probably not make a protein.
    Source sequence(s)
    BC090039, DC424669
    Related
    ENST00000464720.5

  2. NR_037577.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has an additional exon which includes an internal stop codon compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate, so will probably not make a protein.
    Source sequence(s)
    BC090039, BP326836, BX394857

  3. NR_037580.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has two additional exons, one of which includes an internal stop codon compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate, so will probably not make a protein.
    Source sequence(s)
    BC090039, BQ927627, DC424669

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    27322163..27336400
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047431775.1 → XP_047287731.1  transmembrane protein 222 isoform X1

RNA

  1. XR_001737477.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    27163397..27177637
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339064.1 → XP_054195039.1  transmembrane protein 222 isoform X1

RNA

  1. XR_008486176.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H0R3.2 GenPept UniProtKB/Swiss-Prot:Q9H0R3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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