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

Gene ID: 55362, updated on 26-Jan-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
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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 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
 
Component Evidence Code Pubs
located_in actin cytoskeleton IDA
Inferred from Direct Assay
more info
 
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)

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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_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