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TMEM235 transmembrane protein 235 [ Homo sapiens (human) ]

Gene ID: 283999, updated on 3-Apr-2024

Summary

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Official Symbol
TMEM235provided by HGNC
Official Full Name
transmembrane protein 235provided by HGNC
Primary source
HGNC:HGNC:27563
See related
Ensembl:ENSG00000204278 MIM:620272; AllianceGenome:HGNC:27563
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
ARGM1
Summary
Predicted to be located in cytoplasm. Predicted to be active in apical plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward brain (RPKM 1.9) See more
Orthologs
mouse all
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Genomic context

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See TMEM235 in Genome Data Viewer
Location:
17q25.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (78231293..78240987)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (79125384..79135078)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (76227374..76237068)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene arylformamidase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12879 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:76207979-76208182 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76210079-76210980 Neighboring gene baculoviral IAP repeat containing 5 Neighboring gene MPRA-validated peak3015 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9053 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12881 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12882 Neighboring gene MPRA-validated peak3016 silencer Neighboring gene uncharacterized LOC105371910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76246144-76246789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12883 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76249484-76250202 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76250203-76250920 Neighboring gene CRISPRi-validated cis-regulatory element chr17.5434 Neighboring gene threonine aldolase 1, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12886 Neighboring gene CRISPRi-validated cis-regulatory element chr17.5435 Neighboring gene long intergenic non-protein coding RNA 1993 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76263321-76264044 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76264045-76264770 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76266221-76266945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76268313-76269002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12887 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12888 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76273439-76274272 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76274273-76275106

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. The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members. Maher GJ, et al. FEBS Lett, 2011 Jul 21. PMID 21689651
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Data demonstrate that TMEM114, and the closely related TMEM235, are closely related to members of the voltage dependent calcium channel gamma subunit family.
    Title: The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members.
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)

Genotypes

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
transmembrane protein 235
Names
transmembrane protein ENSP00000364084

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_001204210.2 → NP_001191139.1  transmembrane protein 235 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001191139.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC087645, BC042066, BI757060, BI757981
    Consensus CDS
    CCDS56046.1
    UniProtKB/Swiss-Prot
    A6NFC5, C9JRE6
    UniProtKB/TrEMBL
    A0A8V8TML7
    Conserved Domains (1) summary
    pfam13903
    Location:28 → 197
    Claudin_2; PMP-22/EMP/MP20/Claudin tight junction

  2. NM_001204211.2 → NP_001191140.1  transmembrane protein 235 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
    Source sequence(s)
    AC087645, BC036810, BC042066
    Consensus CDS
    CCDS56047.1
    UniProtKB/TrEMBL
    A0A8V8TML7
    Related
    ENSP00000447766.3, ENST00000550981.7
    Conserved Domains (1) summary
    cl21598
    Location:28 → 170
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

  3. NM_001204212.2 → NP_001191141.1  transmembrane protein 235 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons in the 5' coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1
    Source sequence(s)
    AC087645, BC042066
    Consensus CDS
    CCDS56048.1
    UniProtKB/Swiss-Prot
    A6NFC5
    Related
    ENSP00000466793.1, ENST00000586400.5
    Conserved Domains (1) summary
    cl21598
    Location:64 → 124
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

  4. NM_001388480.1 → NP_001375409.1  transmembrane protein 235 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC087645
    UniProtKB/TrEMBL
    K7EMB0
    Conserved Domains (1) summary
    pfam13903
    Location:28 → 250
    Claudin_2; PMP-22/EMP/MP20/Claudin tight junction

  5. NM_001388481.1 → NP_001375410.1  transmembrane protein 235 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC087645
    Consensus CDS
    CCDS92405.1
    UniProtKB/TrEMBL
    A0A8V8TL02
    Related
    ENSP00000513303.1, ENST00000697415.1
    Conserved Domains (1) summary
    cl21598
    Location:28 → 296
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

  6. NM_001395503.1 → NP_001382432.1  transmembrane protein 235 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC087645
    Consensus CDS
    CCDS56046.1
    UniProtKB/Swiss-Prot
    A6NFC5, C9JRE6
    UniProtKB/TrEMBL
    A0A8V8TML7
    Related
    ENSP00000402790.2, ENST00000421688.7
    Conserved Domains (1) summary
    pfam13903
    Location:28 → 197
    Claudin_2; PMP-22/EMP/MP20/Claudin tight junction

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    78231293..78240987
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435762.1 → XP_047291718.1  transmembrane protein 235 isoform X2

  2. XM_011524620.3 → XP_011522922.1  transmembrane protein 235 isoform X1

    Conserved Domains (1) summary
    cl21598
    Location:28 → 251
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

  3. XM_047435763.1 → XP_047291719.1  transmembrane protein 235 isoform X4

  4. XM_017024459.2 → XP_016879948.1  transmembrane protein 235 isoform X3

  5. XM_047435764.1 → XP_047291720.1  transmembrane protein 235 isoform X5

  6. XM_017024461.2 → XP_016879950.1  transmembrane protein 235 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    79125384..79135078
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315736.1 → XP_054171711.1  transmembrane protein 235 isoform X2

  2. XM_054315735.1 → XP_054171710.1  transmembrane protein 235 isoform X1

  3. XM_054315738.1 → XP_054171713.1  transmembrane protein 235 isoform X4

  4. XM_054315737.1 → XP_054171712.1  transmembrane protein 235 isoform X3

  5. XM_054315740.1 → XP_054171715.1  transmembrane protein 235 isoform X5

  6. XM_054315739.1 → XP_054171714.1  transmembrane protein 235 isoform X5

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001145529.1: Suppressed sequence

    Description
    NM_001145529.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NFC5.3 GenPept UniProtKB/Swiss-Prot:A6NFC5

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