CRACR2B calcium release activated channel regulator 2B [Homo sapiens (human)] - Gene

Summary

Official Symbol: CRACR2Bprovided by HGNC
Official Full Name: calcium release activated channel regulator 2Bprovided by HGNC
Primary source: HGNC:HGNC:28703
See related: Ensembl:ENSG00000177685 MIM:614177; AllianceGenome:HGNC:28703
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: EFCAB4A
Summary: Predicted to enable calcium ion binding activity. Involved in store-operated calcium entry. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in salivary gland (RPKM 19.1), stomach (RPKM 14.0) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.5

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (826157..831991)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (877475..883426)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (827919..831991)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

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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

EBI GWAS Catalog

Description
Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in store-operated calcium entry	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: EF-hand calcium-binding domain-containing protein 4A

Names: CRAC channel regulator 2B; CRAC regulator 2B; Ca2+ release-activated Ca2+ (CRAC) channel regulator 2B; EF-hand calcium binding domain 4A; calcium release-activated calcium channel regulator 2B

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_001286606.2 → NP_001273535.1 EF-hand calcium-binding domain-containing protein 4A isoform 1

See identical proteins and their annotated locations for NP_001273535.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK097334, AP006621, BC073821, BU621015, GU952799

Consensus CDS

CCDS65995.1

UniProtKB/Swiss-Prot

D5LPR2, Q8N4Y2, Q8NBW8

Related

ENSP00000435299.1, ENST00000525077.2

Conserved Domains (2) summary

pfam13499
Location:34 → 89

EF-hand_7; EF-hand domain pair

cl08302
Location:33 → 89

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
NM_173584.4 → NP_775855.3 EF-hand calcium-binding domain-containing protein 4A isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate exon, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

BC033196, BC073821, BG674461, BU621015, BX104079, GU952799

Consensus CDS

CCDS41588.1

UniProtKB/Swiss-Prot

Q8N4Y2

Related

ENSP00000409256.1, ENST00000450448.5

Conserved Domains (2) summary

pfam13499
Location:34 → 89

EF-hand_7; EF-hand domain pair

cl08302
Location:33 → 89

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

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

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

826157..831991

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017017582.2 → XP_016873071.1 EF-hand calcium-binding domain-containing protein 4A isoform X1
XM_047426806.1 → XP_047282762.1 EF-hand calcium-binding domain-containing protein 4A isoform X6
XM_017017590.2 → XP_016873079.1 EF-hand calcium-binding domain-containing protein 4A isoform X3

UniProtKB/TrEMBL

Q6ZRW4
XM_047426814.1 → XP_047282770.1 EF-hand calcium-binding domain-containing protein 4A isoform X11
XM_017017583.2 → XP_016873072.1 EF-hand calcium-binding domain-containing protein 4A isoform X1
XM_017017591.2 → XP_016873080.1 EF-hand calcium-binding domain-containing protein 4A isoform X3

UniProtKB/TrEMBL

Q6ZRW4
XM_017017587.2 → XP_016873076.1 EF-hand calcium-binding domain-containing protein 4A isoform X1
XM_017017594.2 → XP_016873083.1 EF-hand calcium-binding domain-containing protein 4A isoform X3

UniProtKB/TrEMBL

Q6ZRW4
XM_047426818.1 → XP_047282774.1 EF-hand calcium-binding domain-containing protein 4A isoform X12
XM_017017586.2 → XP_016873075.1 EF-hand calcium-binding domain-containing protein 4A isoform X1
XM_017017593.2 → XP_016873082.1 EF-hand calcium-binding domain-containing protein 4A isoform X3

UniProtKB/TrEMBL

Q6ZRW4
XM_047426809.1 → XP_047282765.1 EF-hand calcium-binding domain-containing protein 4A isoform X8
XM_047426812.1 → XP_047282768.1 EF-hand calcium-binding domain-containing protein 4A isoform X10
XM_017017584.2 → XP_016873073.1 EF-hand calcium-binding domain-containing protein 4A isoform X1
XM_047426807.1 → XP_047282763.1 EF-hand calcium-binding domain-containing protein 4A isoform X6
XM_047426808.1 → XP_047282764.1 EF-hand calcium-binding domain-containing protein 4A isoform X8
XM_047426810.1 → XP_047282766.1 EF-hand calcium-binding domain-containing protein 4A isoform X10
XM_047426804.1 → XP_047282760.1 EF-hand calcium-binding domain-containing protein 4A isoform X4
XM_047426816.1 → XP_047282772.1 EF-hand calcium-binding domain-containing protein 4A isoform X12
XM_047426820.1 → XP_047282776.1 EF-hand calcium-binding domain-containing protein 4A isoform X14
XM_047426823.1 → XP_047282779.1 EF-hand calcium-binding domain-containing protein 4A isoform X16

UniProtKB/Swiss-Prot

D5LPR2, Q8N4Y2, Q8NBW8
XM_047426826.1 → XP_047282782.1 EF-hand calcium-binding domain-containing protein 4A isoform X17
XM_017017585.2 → XP_016873074.1 EF-hand calcium-binding domain-containing protein 4A isoform X1
XM_047426811.1 → XP_047282767.1 EF-hand calcium-binding domain-containing protein 4A isoform X10
XM_017017592.2 → XP_016873081.1 EF-hand calcium-binding domain-containing protein 4A isoform X3

UniProtKB/TrEMBL

Q6ZRW4
XM_047426815.1 → XP_047282771.1 EF-hand calcium-binding domain-containing protein 4A isoform X11
XM_047426805.1 → XP_047282761.1 EF-hand calcium-binding domain-containing protein 4A isoform X4
XM_047426817.1 → XP_047282773.1 EF-hand calcium-binding domain-containing protein 4A isoform X12
XM_047426821.1 → XP_047282777.1 EF-hand calcium-binding domain-containing protein 4A isoform X14
XM_047426824.1 → XP_047282780.1 EF-hand calcium-binding domain-containing protein 4A isoform X16

UniProtKB/Swiss-Prot

D5LPR2, Q8N4Y2, Q8NBW8
XM_017017588.2 → XP_016873077.1 EF-hand calcium-binding domain-containing protein 4A isoform X1
XM_017017595.2 → XP_016873084.1 EF-hand calcium-binding domain-containing protein 4A isoform X3

UniProtKB/TrEMBL

Q6ZRW4
XM_047426825.1 → XP_047282781.1 EF-hand calcium-binding domain-containing protein 4A isoform X16

UniProtKB/Swiss-Prot

D5LPR2, Q8N4Y2, Q8NBW8
XM_017017599.2 → XP_016873088.1 EF-hand calcium-binding domain-containing protein 4A isoform X17

UniProtKB/Swiss-Prot

Q8N4Y2

Related

ENSP00000432334.1, ENST00000528542.6

Conserved Domains (2) summary

pfam13499
Location:34 → 89

EF-hand_7; EF-hand domain pair

cl08302
Location:33 → 89

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
XM_017017597.2 → XP_016873086.1 EF-hand calcium-binding domain-containing protein 4A isoform X5
XM_047426813.1 → XP_047282769.1 EF-hand calcium-binding domain-containing protein 4A isoform X18
XM_011520011.2 → XP_011518313.1 EF-hand calcium-binding domain-containing protein 4A isoform X7

See identical proteins and their annotated locations for XP_011518313.1

Conserved Domains (1) summary

TIGR04376
Location:289 → 388

TIGR04376; TIGR04376 family protein
XM_011520019.2 → XP_011518321.1 EF-hand calcium-binding domain-containing protein 4A isoform X9

Conserved Domains (1) summary

TIGR04376
Location:289 → 388

TIGR04376; TIGR04376 family protein
XM_017017598.2 → XP_016873087.1 EF-hand calcium-binding domain-containing protein 4A isoform X19
XM_017017589.2 → XP_016873078.1 EF-hand calcium-binding domain-containing protein 4A isoform X2
XM_047426819.1 → XP_047282775.1 EF-hand calcium-binding domain-containing protein 4A isoform X13
XM_047426822.1 → XP_047282778.1 EF-hand calcium-binding domain-containing protein 4A isoform X15

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

877475..883426

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054368491.1 → XP_054224466.1 EF-hand calcium-binding domain-containing protein 4A isoform X3
XM_054368487.1 → XP_054224462.1 EF-hand calcium-binding domain-containing protein 4A isoform X3
XM_054368488.1 → XP_054224463.1 EF-hand calcium-binding domain-containing protein 4A isoform X3
XM_054368497.1 → XP_054224472.1 EF-hand calcium-binding domain-containing protein 4A isoform X6
XM_054368511.1 → XP_054224486.1 EF-hand calcium-binding domain-containing protein 4A isoform X11
XM_054368517.1 → XP_054224492.1 EF-hand calcium-binding domain-containing protein 4A isoform X12
XM_054368525.1 → XP_054224500.1 EF-hand calcium-binding domain-containing protein 4A isoform X16

UniProtKB/Swiss-Prot

D5LPR2, Q8N4Y2, Q8NBW8
XM_054368527.1 → XP_054224502.1 EF-hand calcium-binding domain-containing protein 4A isoform X16

UniProtKB/Swiss-Prot

D5LPR2, Q8N4Y2, Q8NBW8
XM_054368492.1 → XP_054224467.1 EF-hand calcium-binding domain-containing protein 4A isoform X4
XM_054368486.1 → XP_054224461.1 EF-hand calcium-binding domain-containing protein 4A isoform X3
XM_054368521.1 → XP_054224496.1 EF-hand calcium-binding domain-containing protein 4A isoform X14
XM_054368526.1 → XP_054224501.1 EF-hand calcium-binding domain-containing protein 4A isoform X16

UniProtKB/Swiss-Prot

D5LPR2, Q8N4Y2, Q8NBW8
XM_054368528.1 → XP_054224503.1 EF-hand calcium-binding domain-containing protein 4A isoform X16

UniProtKB/Swiss-Prot

D5LPR2, Q8N4Y2, Q8NBW8
XM_054368509.1 → XP_054224484.1 EF-hand calcium-binding domain-containing protein 4A isoform X10
XM_054368512.1 → XP_054224487.1 EF-hand calcium-binding domain-containing protein 4A isoform X11
XM_054368494.1 → XP_054224469.1 EF-hand calcium-binding domain-containing protein 4A isoform X4
XM_054368515.1 → XP_054224490.1 EF-hand calcium-binding domain-containing protein 4A isoform X12
XM_054368504.1 → XP_054224479.1 EF-hand calcium-binding domain-containing protein 4A isoform X8
XM_054368516.1 → XP_054224491.1 EF-hand calcium-binding domain-containing protein 4A isoform X12
XM_054368524.1 → XP_054224499.1 EF-hand calcium-binding domain-containing protein 4A isoform X16

UniProtKB/Swiss-Prot

D5LPR2, Q8N4Y2, Q8NBW8
XM_054368510.1 → XP_054224485.1 EF-hand calcium-binding domain-containing protein 4A isoform X10
XM_054368502.1 → XP_054224477.1 EF-hand calcium-binding domain-containing protein 4A isoform X8
XM_054368513.1 → XP_054224488.1 EF-hand calcium-binding domain-containing protein 4A isoform X12
XM_054368507.1 → XP_054224482.1 EF-hand calcium-binding domain-containing protein 4A isoform X10
XM_054368519.1 → XP_054224494.1 EF-hand calcium-binding domain-containing protein 4A isoform X14
XM_054368498.1 → XP_054224473.1 EF-hand calcium-binding domain-containing protein 4A isoform X6
XM_054368514.1 → XP_054224489.1 EF-hand calcium-binding domain-containing protein 4A isoform X12
XM_054368520.1 → XP_054224495.1 EF-hand calcium-binding domain-containing protein 4A isoform X14
XM_054368522.1 → XP_054224497.1 EF-hand calcium-binding domain-containing protein 4A isoform X14
XM_054368530.1 → XP_054224505.1 EF-hand calcium-binding domain-containing protein 4A isoform X17
XM_054368493.1 → XP_054224468.1 EF-hand calcium-binding domain-containing protein 4A isoform X4
XM_054368485.1 → XP_054224460.1 EF-hand calcium-binding domain-containing protein 4A isoform X2
XM_054368489.1 → XP_054224464.1 EF-hand calcium-binding domain-containing protein 4A isoform X3
XM_054368503.1 → XP_054224478.1 EF-hand calcium-binding domain-containing protein 4A isoform X8
XM_054368490.1 → XP_054224465.1 EF-hand calcium-binding domain-containing protein 4A isoform X3
XM_054368499.1 → XP_054224474.1 EF-hand calcium-binding domain-containing protein 4A isoform X6
XM_054368495.1 → XP_054224470.1 EF-hand calcium-binding domain-containing protein 4A isoform X4
XM_054368508.1 → XP_054224483.1 EF-hand calcium-binding domain-containing protein 4A isoform X10
XM_054368529.1 → XP_054224504.1 EF-hand calcium-binding domain-containing protein 4A isoform X20
XM_054368531.1 → XP_054224506.1 EF-hand calcium-binding domain-containing protein 4A isoform X17
XM_054368532.1 → XP_054224507.1 EF-hand calcium-binding domain-containing protein 4A isoform X17
XM_054368496.1 → XP_054224471.1 EF-hand calcium-binding domain-containing protein 4A isoform X5
XM_054368500.1 → XP_054224475.1 EF-hand calcium-binding domain-containing protein 4A isoform X7
XM_054368505.1 → XP_054224480.1 EF-hand calcium-binding domain-containing protein 4A isoform X9
XM_054368501.1 → XP_054224476.1 EF-hand calcium-binding domain-containing protein 4A isoform X8
XM_054368506.1 → XP_054224481.1 EF-hand calcium-binding domain-containing protein 4A isoform X10
XM_054368518.1 → XP_054224493.1 EF-hand calcium-binding domain-containing protein 4A isoform X13
XM_054368523.1 → XP_054224498.1 EF-hand calcium-binding domain-containing protein 4A isoform X15