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

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: mouse all
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Genomic context

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Title: Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
overexpression of TMEM63B in HEK293T cells significantly enhanced cell migration and wound healing.
Title: Overexpression of Osmosensitive Ca(2+)-Permeable Channel TMEM63B Promotes Migration in HEK293T Cells.

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_17431-17432:1022875841:6 (e-PCR)
- UniSTS:268295

STS-W72853 (e-PCR)
- UniSTS:12403

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

General protein information

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Preferred Names: CSC1-like protein 2

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)

NM_001318792.1 → NP_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:40 → 830

COG5594; Uncharacterized integral membrane protein [Function unknown]

pfam02714
Location:362 → 706

RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate

pfam13967
Location:52 → 221

RSN1_TM; Late exocytosis, associated with Golgi transport

pfam14703
Location:275 → 343

PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

cl10015
Location:235 → 281

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 ...
NM_018426.3 → NP_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:40 → 830

COG5594; Uncharacterized integral membrane protein [Function unknown]

pfam02714
Location:362 → 706

RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate

pfam13967
Location:52 → 221

RSN1_TM; Late exocytosis, associated with Golgi transport

pfam14703
Location:275 → 343

PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

cl10015
Location:235 → 281

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

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

44126633..44155519

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

H3BLW6

Conserved Domains (5) summary

COG5594
Location:49 → 839

COG5594; Uncharacterized integral membrane protein [Function unknown]

pfam02714
Location:371 → 715

RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate

pfam13967
Location:61 → 230

RSN1_TM; Late exocytosis, associated with Golgi transport

pfam14703
Location:284 → 352

PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

cl10015
Location:244 → 290

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 ...
XM_047418973.1 → XP_047274929.1 CSC1-like protein 2 isoform X2

UniProtKB/Swiss-Prot

B9EGU3, Q5T3F8, Q5T3F9, Q6AHX4, Q6P5A0, Q8N219, Q8NDE1, Q9NSG5

UniProtKB/TrEMBL

H3BLW6
XM_047418970.1 → XP_047274926.1 CSC1-like protein 2 isoform X1

UniProtKB/TrEMBL

H3BLW6
XM_047418972.1 → XP_047274928.1 CSC1-like protein 2 isoform X2

UniProtKB/Swiss-Prot

B9EGU3, Q5T3F8, Q5T3F9, Q6AHX4, Q6P5A0, Q8N219, Q8NDE1, Q9NSG5

UniProtKB/TrEMBL

H3BLW6
XM_047418974.1 → XP_047274930.1 CSC1-like protein 2 isoform X3

UniProtKB/TrEMBL

H3BLW6
XM_005249213.5 → XP_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:40 → 830

COG5594; Uncharacterized integral membrane protein [Function unknown]

pfam02714
Location:362 → 706

RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate

pfam13967
Location:52 → 221

RSN1_TM; Late exocytosis, associated with Golgi transport

pfam14703
Location:275 → 343

PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

cl10015
Location:235 → 281

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 ...
XM_024446482.2 → XP_024302250.1 CSC1-like protein 2 isoform X4

UniProtKB/TrEMBL

H3BLW6

Conserved Domains (3) summary

pfam02714
Location:420 → 691

RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate

pfam13967
Location:52 → 208

RSN1_TM; Late exocytosis, associated with Golgi transport

pfam14703
Location:227 → 409

PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter
XM_047418971.1 → XP_047274927.1 CSC1-like protein 2 isoform X1

UniProtKB/TrEMBL

H3BLW6
XM_047418977.1 → XP_047274933.1 CSC1-like protein 2 isoform X3

UniProtKB/TrEMBL

H3BLW6
XM_047418980.1 → XP_047274936.1 CSC1-like protein 2 isoform X4

UniProtKB/TrEMBL

H3BLW6
XM_047418979.1 → XP_047274935.1 CSC1-like protein 2 isoform X4

UniProtKB/TrEMBL

H3BLW6
XM_047418975.1 → XP_047274931.1 CSC1-like protein 2 isoform X3

UniProtKB/TrEMBL

H3BLW6
XM_005249217.2 → XP_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:40 → 830

COG5594; Uncharacterized integral membrane protein [Function unknown]

pfam02714
Location:362 → 706

RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate

pfam13967
Location:52 → 221

RSN1_TM; Late exocytosis, associated with Golgi transport

pfam14703
Location:275 → 343

PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

cl10015
Location:235 → 281

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 ...
XM_017011002.2 → XP_016866491.1 CSC1-like protein 2 isoform X4

UniProtKB/TrEMBL

H3BLW6

Conserved Domains (3) summary

pfam02714
Location:420 → 691

RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate

pfam13967
Location:52 → 208

RSN1_TM; Late exocytosis, associated with Golgi transport

pfam14703
Location:227 → 409

PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter
XM_047418969.1 → XP_047274925.1 CSC1-like protein 2 isoform X1

UniProtKB/TrEMBL

H3BLW6
XM_047418976.1 → XP_047274932.1 CSC1-like protein 2 isoform X3

UniProtKB/TrEMBL

H3BLW6
XM_006715135.2 → XP_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:40 → 830

COG5594; Uncharacterized integral membrane protein [Function unknown]

pfam02714
Location:362 → 706

RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate

pfam13967
Location:52 → 221

RSN1_TM; Late exocytosis, associated with Golgi transport

pfam14703
Location:275 → 343

PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

cl10015
Location:235 → 281

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 ...
XM_047418978.1 → XP_047274934.1 CSC1-like protein 2 isoform X4

UniProtKB/TrEMBL

H3BLW6
XM_017011001.2 → XP_016866490.1 CSC1-like protein 2 isoform X4

UniProtKB/TrEMBL

H3BLW6

Related

ENSP00000360960.2, ENST00000371893.6

Conserved Domains (3) summary

pfam02714
Location:420 → 691

RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate

pfam13967
Location:52 → 208

RSN1_TM; Late exocytosis, associated with Golgi transport

pfam14703
Location:227 → 409

PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter