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    TMCO3 transmembrane and coiled-coil domains 3 [ Homo sapiens (human) ]

    Gene ID: 55002, updated on 2-Nov-2024

    Summary

    Official Symbol
    TMCO3provided by HGNC
    Official Full Name
    transmembrane and coiled-coil domains 3provided by HGNC
    Primary source
    HGNC:HGNC:20329
    See related
    Ensembl:ENSG00000150403 MIM:617134; AllianceGenome:HGNC:20329
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C13orf11
    Summary
    This gene encodes a member of the monovalent cation:proton antiporter 2 (CPA2) family of transporter proteins. Members of this family typically couple the export of monovalent cations, such as potassium or sodium, to the import of protons across cellular membranes. Mutations in this gene have been identified in patients with a rare inherited vision defect, cornea guttata with anterior polar cataract. [provided by RefSeq, Mar 2017]
    Expression
    Ubiquitous expression in stomach (RPKM 5.5), endometrium (RPKM 4.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TMCO3 in Genome Data Viewer
    Location:
    13q34
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (113491021..113550229)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (112749864..112809126)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (114145336..114204544)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:114059695-114060489 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:114061607-114062292 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:114064726-114065925 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114071164-114072164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114072165-114073165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114075358-114076070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114076783-114077494 Neighboring gene ADP-ribosylhydrolase like 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:114080191-114080738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114085068-114085648 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114100205-114101146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114105835-114106336 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114110333-114111263 Neighboring gene defective in cullin neddylation 1 domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8039 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5548 Neighboring gene RNA, U1 small nuclear 16, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr13:114192765-114192953 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:114195260-114196459 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:114200259-114201002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114206049-114206550 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:114236917-114237890 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:114237891-114238862 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5550 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114240840-114241440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114251630-114252130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114267642-114268206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114268207-114268770 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:114269335-114269898 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:114269899-114270462 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:114271027-114271590 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:114271591-114272153 Neighboring gene transcription factor Dp-1 Neighboring gene uncharacterized LOC124903219 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:114279174-114280373 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114305936-114306560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114306561-114307185 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114311832-114312332 Neighboring gene ATPase H+/K+ transporting subunit beta Neighboring gene G protein-coupled receptor kinase 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20623

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables potassium:proton antiporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in potassium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    transmembrane and coiled-coil domain-containing protein 3
    Names
    putative LAG1-interacting protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_053059.1 RefSeqGene

      Range
      5029..64237
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001349741.2NP_001336670.1  transmembrane and coiled-coil domain-containing protein 3 isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AK000630, AK074415, AL442125, BC068515
      Consensus CDS
      CCDS86365.1
      Related
      ENSP00000484053.1, ENST00000474393.5
      Conserved Domains (2) summary
      pfam00999
      Location:274511
      Na_H_Exchanger; Sodium/hydrogen exchanger family
      cl25732
      Location:61253
      SMC_N; RecF/RecN/SMC N terminal domain
    2. NM_001349742.2NP_001336671.1  transmembrane and coiled-coil domain-containing protein 3 isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AK074415, AL442125
      Conserved Domains (2) summary
      pfam00999
      Location:210581
      Na_H_Exchanger; Sodium/hydrogen exchanger family
      cl25732
      Location:61201
      SMC_N; RecF/RecN/SMC N terminal domain
    3. NM_001349743.2NP_001336672.1  transmembrane and coiled-coil domain-containing protein 3 isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AK074415, AL442125
      Conserved Domains (2) summary
      cl01133
      Location:210283
      Na_H_Exchanger; Sodium/hydrogen exchanger family
      cl25732
      Location:26213
      SMC_N; RecF/RecN/SMC N terminal domain
    4. NM_001349744.2NP_001336673.1  transmembrane and coiled-coil domain-containing protein 3 isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AK074415, AL442125
      Conserved Domains (2) summary
      pfam00999
      Location:274560
      Na_H_Exchanger; Sodium/hydrogen exchanger family
      cl25732
      Location:61253
      SMC_N; RecF/RecN/SMC N terminal domain
    5. NM_001349745.2NP_001336674.1  transmembrane and coiled-coil domain-containing protein 3 isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AK074415, AL442125
      Conserved Domains (2) summary
      pfam00999
      Location:210496
      Na_H_Exchanger; Sodium/hydrogen exchanger family
      cl25732
      Location:26201
      SMC_N; RecF/RecN/SMC N terminal domain
    6. NM_001349746.2NP_001336675.1  transmembrane and coiled-coil domain-containing protein 3 isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AK074415, AL442125
      Conserved Domains (2) summary
      cl01133
      Location:274347
      Na_H_Exchanger; Sodium/hydrogen exchanger family
      cl25732
      Location:26253
      SMC_N; RecF/RecN/SMC N terminal domain
    7. NM_017905.6NP_060375.4  transmembrane and coiled-coil domain-containing protein 3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_060375.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK074415, BC068515
      Consensus CDS
      CCDS9537.1
      UniProtKB/Swiss-Prot
      Q5JSB1, Q6NUN1, Q6UWJ1, Q8NG29, Q8TCI6, Q96EA6, Q9NWT2
      UniProtKB/TrEMBL
      A0A024RE09
      Related
      ENSP00000389399.2, ENST00000434316.7
      Conserved Domains (2) summary
      pfam00999
      Location:274645
      Na_H_Exchanger; Sodium/hydrogen exchanger family
      pfam01519
      Location:88195
      DUF16; Protein of unknown function DUF16

    RNA

    1. NR_146221.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AK074415, AL442125
    2. NR_146222.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AK074415, AL442125

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      113491021..113550229
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430398.1XP_047286354.1  transmembrane and coiled-coil domain-containing protein 3 isoform X1

    2. XM_047430399.1XP_047286355.1  transmembrane and coiled-coil domain-containing protein 3 isoform X2

    3. XM_047430404.1XP_047286360.1  transmembrane and coiled-coil domain-containing protein 3 isoform X7

    4. XM_047430407.1XP_047286363.1  transmembrane and coiled-coil domain-containing protein 3 isoform X10

    5. XM_047430402.1XP_047286358.1  transmembrane and coiled-coil domain-containing protein 3 isoform X5

    6. XM_047430403.1XP_047286359.1  transmembrane and coiled-coil domain-containing protein 3 isoform X6

    7. XM_047430408.1XP_047286364.1  transmembrane and coiled-coil domain-containing protein 3 isoform X11

    8. XM_006719969.2XP_006720032.1  transmembrane and coiled-coil domain-containing protein 3 isoform X3

      See identical proteins and their annotated locations for XP_006720032.1

      UniProtKB/Swiss-Prot
      Q5JSB1, Q6NUN1, Q6UWJ1, Q8NG29, Q8TCI6, Q96EA6, Q9NWT2
      UniProtKB/TrEMBL
      A0A024RE09
      Conserved Domains (2) summary
      pfam00999
      Location:274645
      Na_H_Exchanger; Sodium/hydrogen exchanger family
      pfam01519
      Location:88195
      DUF16; Protein of unknown function DUF16
    9. XM_047430401.1XP_047286357.1  transmembrane and coiled-coil domain-containing protein 3 isoform X4

    10. XM_047430410.1XP_047286366.1  transmembrane and coiled-coil domain-containing protein 3 isoform X12

    11. XM_047430409.1XP_047286365.1  transmembrane and coiled-coil domain-containing protein 3 isoform X12

    12. XM_047430406.1XP_047286362.1  transmembrane and coiled-coil domain-containing protein 3 isoform X9

    13. XM_047430414.1XP_047286370.1  transmembrane and coiled-coil domain-containing protein 3 isoform X16

    14. XM_047430405.1XP_047286361.1  transmembrane and coiled-coil domain-containing protein 3 isoform X8

    15. XM_047430411.1XP_047286367.1  transmembrane and coiled-coil domain-containing protein 3 isoform X13

    16. XM_047430413.1XP_047286369.1  transmembrane and coiled-coil domain-containing protein 3 isoform X15

      Related
      ENSP00000364540.1, ENST00000375391.5
    17. XM_047430412.1XP_047286368.1  transmembrane and coiled-coil domain-containing protein 3 isoform X14

    18. XM_047430415.1XP_047286371.1  transmembrane and coiled-coil domain-containing protein 3 isoform X17

    19. XM_047430400.1XP_047286356.1  transmembrane and coiled-coil domain-containing protein 3 isoform X4

    20. XM_011537498.3XP_011535800.1  transmembrane and coiled-coil domain-containing protein 3 isoform X3

      See identical proteins and their annotated locations for XP_011535800.1

      UniProtKB/Swiss-Prot
      Q5JSB1, Q6NUN1, Q6UWJ1, Q8NG29, Q8TCI6, Q96EA6, Q9NWT2
      UniProtKB/TrEMBL
      A0A024RE09
      Conserved Domains (2) summary
      pfam00999
      Location:274645
      Na_H_Exchanger; Sodium/hydrogen exchanger family
      pfam01519
      Location:88195
      DUF16; Protein of unknown function DUF16

    RNA

    1. XR_007063685.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      112749864..112809126
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374616.1XP_054230591.1  transmembrane and coiled-coil domain-containing protein 3 isoform X1

    2. XM_054374621.1XP_054230596.1  transmembrane and coiled-coil domain-containing protein 3 isoform X4

    3. XM_054374618.1XP_054230593.1  transmembrane and coiled-coil domain-containing protein 3 isoform X3

      UniProtKB/Swiss-Prot
      Q5JSB1, Q6NUN1, Q6UWJ1, Q8NG29, Q8TCI6, Q96EA6, Q9NWT2
      UniProtKB/TrEMBL
      A0A024RE09
    4. XM_054374627.1XP_054230602.1  transmembrane and coiled-coil domain-containing protein 3 isoform X11

    5. XM_054374625.1XP_054230600.1  transmembrane and coiled-coil domain-containing protein 3 isoform X8

    6. XM_054374623.1XP_054230598.1  transmembrane and coiled-coil domain-containing protein 3 isoform X6

    7. XM_054374622.1XP_054230597.1  transmembrane and coiled-coil domain-containing protein 3 isoform X5

    8. XM_054374624.1XP_054230599.1  transmembrane and coiled-coil domain-containing protein 3 isoform X7

    9. XM_054374617.1XP_054230592.1  transmembrane and coiled-coil domain-containing protein 3 isoform X2

    10. XM_054374629.1XP_054230604.1  transmembrane and coiled-coil domain-containing protein 3 isoform X12

    11. XM_054374626.1XP_054230601.1  transmembrane and coiled-coil domain-containing protein 3 isoform X9

    12. XM_054374628.1XP_054230603.1  transmembrane and coiled-coil domain-containing protein 3 isoform X12

    13. XM_054374630.1XP_054230605.1  transmembrane and coiled-coil domain-containing protein 3 isoform X13

    14. XM_054374631.1XP_054230606.1  transmembrane and coiled-coil domain-containing protein 3 isoform X14

    15. XM_054374632.1XP_054230607.1  transmembrane and coiled-coil domain-containing protein 3 isoform X15

    16. XM_054374633.1XP_054230608.1  transmembrane and coiled-coil domain-containing protein 3 isoform X17

    17. XM_054374620.1XP_054230595.1  transmembrane and coiled-coil domain-containing protein 3 isoform X4

    18. XM_054374619.1XP_054230594.1  transmembrane and coiled-coil domain-containing protein 3 isoform X3

      UniProtKB/Swiss-Prot
      Q5JSB1, Q6NUN1, Q6UWJ1, Q8NG29, Q8TCI6, Q96EA6, Q9NWT2
      UniProtKB/TrEMBL
      A0A024RE09