CABP7 calcium binding protein 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CABP7provided by HGNC
Official Full Name: calcium binding protein 7provided by HGNC
Primary source: HGNC:HGNC:20834
See related: Ensembl:ENSG00000100314 MIM:618759; AllianceGenome:HGNC:20834
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: CALN2
Summary: Predicted to enable calcium ion binding activity. Located in trans-Golgi network membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in adrenal (RPKM 1.8), brain (RPKM 1.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q12.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (29720003..29731833)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (30183366..30195196)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (30115992..30127822)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CaBP7 regulates lysosome clustering at the intercellular bridge during cytokinesis in HeLa cells. CaBP7 depletion induces lysosome mislocalization, extension of intercellular bridge lifetime, and cytokinesis failure.
Title: Modulation of phosphatidylinositol 4-phosphate levels by CaBP7 controls cytokinesis in mammalian cells.
Data indicate that the Ca(2+)-bound form of calcium-binding protein 7 (CaBP7) N-terminal domain (NTD) is monomeric and exhibits an open conformation.
Title: Solution NMR structure of the Ca2+-bound N-terminal domain of CaBP7: a regulator of golgi trafficking.
CaBP7 and 8 possess a targeting mechanism that is unique amongst the CaBPs that may contribute to differential functional Ca(2+)-sensing by these family members.
Title: Membrane targeting of the EF-hand containing calcium-sensing proteins CaBP7 and CaBP8.

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Phenotypes

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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

NoName (e-PCR)
- UniSTS:493089

STS-L11353 (e-PCR)
- UniSTS:63028

NoName (e-PCR)
- UniSTS:490581

RH27831 (e-PCR)
- UniSTS:85656

WI-12398 (e-PCR)
- UniSTS:18401

A007D33 (e-PCR)
- UniSTS:11494

RH45735 (e-PCR)
- UniSTS:88056

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

Component	Evidence Code	Pubs
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in trans-Golgi network membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in trans-Golgi network membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: calcium-binding protein 7

Names: calneuron 2; calneuron II

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.