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    TMEM63B transmembrane protein 63B [ Homo sapiens (human) ]

    Gene ID: 55362, updated on 17-Jun-2024

    Summary

    Official Symbol
    TMEM63Bprovided by HGNC
    Official Full Name
    transmembrane protein 63Bprovided by HGNC
    Primary source
    HGNC:HGNC:17735
    See related
    Ensembl:ENSG00000137216 MIM:619952; AllianceGenome:HGNC:17735
    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
    C6orf110
    Summary
    Predicted to enable calcium activated cation channel activity; mechanosensitive ion channel activity; and osmolarity-sensing cation channel activity. Predicted to be involved in cation transmembrane transport. Located in actin cytoskeleton and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in lung (RPKM 21.2), testis (RPKM 16.9) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TMEM63B in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (44126633..44155519)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (43959874..43988974)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (44094651..44123256)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RNA polymerase I and III subunit C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24624 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43972319-43972950 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:43977969-43979168 Neighboring gene long intergenic non-protein coding RNA 3040 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44007317-44008074 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44009776-44010524 Neighboring gene Sharpr-MPRA regulatory region 2143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24625 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44019358-44019952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44022316-44022816 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24626 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17245 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44030458-44031420 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17247 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24630 Neighboring gene stem cell inhibitory RNA transcript Neighboring gene Sharpr-MPRA regulatory region 9341 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91788 Neighboring gene Sharpr-MPRA regulatory region 15428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44069931-44070480 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44070481-44071029 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91811 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44075151-44075650 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91827 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91835 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91840 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17250 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17251 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17252 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17254 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:44098898-44099057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44100902-44101867 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44101868-44102832 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91847 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91852 Neighboring gene ribosomal protein L29 pseudogene 16 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91874 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91884 Neighboring gene uncharacterized LOC107986599 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91890 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17255 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44134475-44135357 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:44137200-44138399 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44144390-44145092 Neighboring gene uncharacterized LOC105375072 Neighboring gene mitochondrial ribosomal protein L14 Neighboring gene calpain 11

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp686N2275

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium-activated cation channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium-activated cation channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables mechanosensitive monoatomic cation channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables mechanosensitive monoatomic ion channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables mechanosensitive monoatomic ion channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables osmolarity-sensing monoatomic cation channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in monoatomic cation transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of sound ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in surfactant secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    located_in alveolar lamellar body membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    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.

    mRNA and Protein(s)

    1. NM_001318792.1NP_001305721.1  CSC1-like protein 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL365192, BC022095, CR627460
      Consensus CDS
      CCDS34461.1
      UniProtKB/Swiss-Prot
      B9EGU3, Q5T3F8, Q5T3F9, Q6AHX4, Q6P5A0, Q8N219, Q8NDE1, Q9NSG5
      UniProtKB/TrEMBL
      H3BLW6
      Related
      ENSP00000259746.9, ENST00000259746.13
      Conserved Domains (5) summary
      COG5594
      Location:40830
      COG5594; Uncharacterized integral membrane protein [Function unknown]
      pfam02714
      Location:362706
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:52221
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:275343
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter
      cl10015
      Location:235281
      YjgF_YER057c_UK114_family; YjgF, YER057c, and UK114 belong to a large family of proteins present in bacteria, archaea, and eukaryotes with no definitive function. The conserved domain is similar in structure to chorismate mutase but there is no sequence similarity and no ...
    2. NM_018426.3NP_060896.1  CSC1-like protein 2

      See identical proteins and their annotated locations for NP_060896.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC022095, DC408120
      Consensus CDS
      CCDS34461.1
      UniProtKB/Swiss-Prot
      B9EGU3, Q5T3F8, Q5T3F9, Q6AHX4, Q6P5A0, Q8N219, Q8NDE1, Q9NSG5
      UniProtKB/TrEMBL
      H3BLW6
      Related
      ENSP00000327154.6, ENST00000323267.11
      Conserved Domains (5) summary
      COG5594
      Location:40830
      COG5594; Uncharacterized integral membrane protein [Function unknown]
      pfam02714
      Location:362706
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:52221
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:275343
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter
      cl10015
      Location:235281
      YjgF_YER057c_UK114_family; YjgF, YER057c, and UK114 belong to a large family of proteins present in bacteria, archaea, and eukaryotes with no definitive function. The conserved domain is similar in structure to chorismate mutase but there is no sequence similarity and no ...

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      44126633..44155519
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010999.2XP_016866488.1  CSC1-like protein 2 isoform X1

      UniProtKB/TrEMBL
      H3BLW6
      Conserved Domains (5) summary
      COG5594
      Location:49839
      COG5594; Uncharacterized integral membrane protein [Function unknown]
      pfam02714
      Location:371715
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:61230
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:284352
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter
      cl10015
      Location:244290
      YjgF_YER057c_UK114_family; YjgF, YER057c, and UK114 belong to a large family of proteins present in bacteria, archaea, and eukaryotes with no definitive function. The conserved domain is similar in structure to chorismate mutase but there is no sequence similarity and no ...
    2. XM_047418973.1XP_047274929.1  CSC1-like protein 2 isoform X2

      UniProtKB/Swiss-Prot
      B9EGU3, Q5T3F8, Q5T3F9, Q6AHX4, Q6P5A0, Q8N219, Q8NDE1, Q9NSG5
      UniProtKB/TrEMBL
      H3BLW6
    3. XM_047418970.1XP_047274926.1  CSC1-like protein 2 isoform X1

      UniProtKB/TrEMBL
      H3BLW6
    4. XM_047418972.1XP_047274928.1  CSC1-like protein 2 isoform X2

      UniProtKB/Swiss-Prot
      B9EGU3, Q5T3F8, Q5T3F9, Q6AHX4, Q6P5A0, Q8N219, Q8NDE1, Q9NSG5
      UniProtKB/TrEMBL
      H3BLW6
    5. XM_047418974.1XP_047274930.1  CSC1-like protein 2 isoform X3

      UniProtKB/TrEMBL
      H3BLW6
    6. XM_005249213.5XP_005249270.1  CSC1-like protein 2 isoform X2

      See identical proteins and their annotated locations for XP_005249270.1

      UniProtKB/Swiss-Prot
      B9EGU3, Q5T3F8, Q5T3F9, Q6AHX4, Q6P5A0, Q8N219, Q8NDE1, Q9NSG5
      UniProtKB/TrEMBL
      H3BLW6
      Conserved Domains (5) summary
      COG5594
      Location:40830
      COG5594; Uncharacterized integral membrane protein [Function unknown]
      pfam02714
      Location:362706
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:52221
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:275343
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter
      cl10015
      Location:235281
      YjgF_YER057c_UK114_family; YjgF, YER057c, and UK114 belong to a large family of proteins present in bacteria, archaea, and eukaryotes with no definitive function. The conserved domain is similar in structure to chorismate mutase but there is no sequence similarity and no ...
    7. XM_024446482.2XP_024302250.1  CSC1-like protein 2 isoform X4

      UniProtKB/TrEMBL
      H3BLW6
      Conserved Domains (3) summary
      pfam02714
      Location:420691
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:52208
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:227409
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter
    8. XM_047418971.1XP_047274927.1  CSC1-like protein 2 isoform X1

      UniProtKB/TrEMBL
      H3BLW6
    9. XM_047418977.1XP_047274933.1  CSC1-like protein 2 isoform X3

      UniProtKB/TrEMBL
      H3BLW6
    10. XM_047418980.1XP_047274936.1  CSC1-like protein 2 isoform X4

      UniProtKB/TrEMBL
      H3BLW6
    11. XM_047418979.1XP_047274935.1  CSC1-like protein 2 isoform X4

      UniProtKB/TrEMBL
      H3BLW6
    12. XM_047418975.1XP_047274931.1  CSC1-like protein 2 isoform X3

      UniProtKB/TrEMBL
      H3BLW6
    13. XM_005249217.2XP_005249274.1  CSC1-like protein 2 isoform X2

      See identical proteins and their annotated locations for XP_005249274.1

      UniProtKB/Swiss-Prot
      B9EGU3, Q5T3F8, Q5T3F9, Q6AHX4, Q6P5A0, Q8N219, Q8NDE1, Q9NSG5
      UniProtKB/TrEMBL
      H3BLW6
      Conserved Domains (5) summary
      COG5594
      Location:40830
      COG5594; Uncharacterized integral membrane protein [Function unknown]
      pfam02714
      Location:362706
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:52221
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:275343
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter
      cl10015
      Location:235281
      YjgF_YER057c_UK114_family; YjgF, YER057c, and UK114 belong to a large family of proteins present in bacteria, archaea, and eukaryotes with no definitive function. The conserved domain is similar in structure to chorismate mutase but there is no sequence similarity and no ...
    14. XM_017011002.2XP_016866491.1  CSC1-like protein 2 isoform X4

      UniProtKB/TrEMBL
      H3BLW6
      Conserved Domains (3) summary
      pfam02714
      Location:420691
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:52208
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:227409
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter
    15. XM_047418969.1XP_047274925.1  CSC1-like protein 2 isoform X1

      UniProtKB/TrEMBL
      H3BLW6
    16. XM_047418976.1XP_047274932.1  CSC1-like protein 2 isoform X3

      UniProtKB/TrEMBL
      H3BLW6
    17. XM_006715135.2XP_006715198.1  CSC1-like protein 2 isoform X2

      See identical proteins and their annotated locations for XP_006715198.1

      UniProtKB/Swiss-Prot
      B9EGU3, Q5T3F8, Q5T3F9, Q6AHX4, Q6P5A0, Q8N219, Q8NDE1, Q9NSG5
      UniProtKB/TrEMBL
      H3BLW6
      Conserved Domains (5) summary
      COG5594
      Location:40830
      COG5594; Uncharacterized integral membrane protein [Function unknown]
      pfam02714
      Location:362706
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:52221
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:275343
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter
      cl10015
      Location:235281
      YjgF_YER057c_UK114_family; YjgF, YER057c, and UK114 belong to a large family of proteins present in bacteria, archaea, and eukaryotes with no definitive function. The conserved domain is similar in structure to chorismate mutase but there is no sequence similarity and no ...
    18. XM_047418978.1XP_047274934.1  CSC1-like protein 2 isoform X4

      UniProtKB/TrEMBL
      H3BLW6
    19. XM_017011001.2XP_016866490.1  CSC1-like protein 2 isoform X4

      UniProtKB/TrEMBL
      H3BLW6
      Related
      ENSP00000360960.2, ENST00000371893.6
      Conserved Domains (3) summary
      pfam02714
      Location:420691
      RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
      pfam13967
      Location:52208
      RSN1_TM; Late exocytosis, associated with Golgi transport
      pfam14703
      Location:227409
      PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

    RNA

    1. XR_001743506.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      43959874..43988974
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355791.1XP_054211766.1  CSC1-like protein 2 isoform X3

      UniProtKB/TrEMBL
      H3BLW6
    2. XM_054355795.1XP_054211770.1  CSC1-like protein 2 isoform X4

      UniProtKB/TrEMBL
      H3BLW6
    3. XM_054355799.1XP_054211774.1  CSC1-like protein 2 isoform X4

      UniProtKB/TrEMBL
      H3BLW6
    4. XM_054355798.1XP_054211773.1  CSC1-like protein 2 isoform X4

      UniProtKB/TrEMBL
      H3BLW6
    5. XM_054355782.1XP_054211757.1  CSC1-like protein 2 isoform X1

      UniProtKB/TrEMBL
      H3BLW6
    6. XM_054355786.1XP_054211761.1  CSC1-like protein 2 isoform X2

      UniProtKB/Swiss-Prot
      B9EGU3, Q5T3F8, Q5T3F9, Q6AHX4, Q6P5A0, Q8N219, Q8NDE1, Q9NSG5
      UniProtKB/TrEMBL
      H3BLW6
    7. XM_054355788.1XP_054211763.1  CSC1-like protein 2 isoform X2

      UniProtKB/Swiss-Prot
      B9EGU3, Q5T3F8, Q5T3F9, Q6AHX4, Q6P5A0, Q8N219, Q8NDE1, Q9NSG5
      UniProtKB/TrEMBL
      H3BLW6
    8. XM_054355784.1XP_054211759.1  CSC1-like protein 2 isoform X1

      UniProtKB/TrEMBL
      H3BLW6
    9. XM_054355787.1XP_054211762.1  CSC1-like protein 2 isoform X2

      UniProtKB/Swiss-Prot
      B9EGU3, Q5T3F8, Q5T3F9, Q6AHX4, Q6P5A0, Q8N219, Q8NDE1, Q9NSG5
      UniProtKB/TrEMBL
      H3BLW6
    10. XM_054355785.1XP_054211760.1  CSC1-like protein 2 isoform X1

      UniProtKB/TrEMBL
      H3BLW6
    11. XM_054355790.1XP_054211765.1  CSC1-like protein 2 isoform X2

      UniProtKB/Swiss-Prot
      B9EGU3, Q5T3F8, Q5T3F9, Q6AHX4, Q6P5A0, Q8N219, Q8NDE1, Q9NSG5
      UniProtKB/TrEMBL
      H3BLW6
    12. XM_054355783.1XP_054211758.1  CSC1-like protein 2 isoform X1

      UniProtKB/TrEMBL
      H3BLW6
    13. XM_054355793.1XP_054211768.1  CSC1-like protein 2 isoform X3

      UniProtKB/TrEMBL
      H3BLW6
    14. XM_054355789.1XP_054211764.1  CSC1-like protein 2 isoform X2

      UniProtKB/Swiss-Prot
      B9EGU3, Q5T3F8, Q5T3F9, Q6AHX4, Q6P5A0, Q8N219, Q8NDE1, Q9NSG5
      UniProtKB/TrEMBL
      H3BLW6
    15. XM_054355796.1XP_054211771.1  CSC1-like protein 2 isoform X4

      UniProtKB/TrEMBL
      H3BLW6
    16. XM_054355797.1XP_054211772.1  CSC1-like protein 2 isoform X4

      UniProtKB/TrEMBL
      H3BLW6
    17. XM_054355794.1XP_054211769.1  CSC1-like protein 2 isoform X4

      UniProtKB/TrEMBL
      H3BLW6
    18. XM_054355792.1XP_054211767.1  CSC1-like protein 2 isoform X3

      UniProtKB/TrEMBL
      H3BLW6

    RNA

    1. XR_008487365.1 RNA Sequence