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    TMEM235 transmembrane protein 235 [ Homo sapiens (human) ]

    Gene ID: 283999, updated on 2-Nov-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 endoplasmic reticulum and membrane. Predicted to be active in apical plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    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_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (78231293..78240987)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (79125384..79135078)
    RS_2024_09 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 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_2024_08

    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

    Gene LinkOut

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

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