SPIN2B spindlin family member 2B [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPIN2Bprovided by HGNC
Official Full Name: spindlin family member 2Bprovided by HGNC
Primary source: HGNC:HGNC:33147
See related: Ensembl:ENSG00000186787 MIM:300517; AllianceGenome:HGNC:33147
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: SPIN-2; TDRD26; SPIN-2B; dJ323P24.2; SPIN2_duplicate
Summary: Enables methylated histone binding activity. Predicted to be involved in regulation of DNA-templated transcription. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in prostate (RPKM 2.6), brain (RPKM 2.6) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: Xp11.21

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (57119682..57121548, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (56418555..56420421, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (57146115..57147981, complement)

Chromosome X - NC_000023.11 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?

SERPINA3K is a high-affinity, endogenous antagonist of LRP6
Title: Blocking the Wnt pathway, a unifying mechanism for an angiogenic inhibitor in the serine proteinase inhibitor family.

Submit: New GeneRIF Correction

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables methylated histone binding	IBA Inferred from Biological aspect of Ancestor more info
enables methylated histone binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in gamete generation	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: spindlin-2B

Names: spindlin family, member 2 duplicate; spindlin-like protein 2B; telomeric SPIN2 copy

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_001006681.2 → NP_001006682.1 spindlin-2B isoform 1

See identical proteins and their annotated locations for NP_001006682.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 2 and 3 encode the same isoform (1).

Source sequence(s)

AL022157, BC071974, BQ221120

Consensus CDS

CCDS35311.1

UniProtKB/Swiss-Prot

Q7Z2M0, Q9BPZ2

UniProtKB/TrEMBL

Q5JZB8

Related

ENSP00000404314.2, ENST00000434397.3

Conserved Domains (1) summary

pfam02513
Location:50 → 98

Spin-Ssty; Spin/Ssty Family
NM_001006682.2 → NP_001006683.1 spindlin-2B isoform 1

See identical proteins and their annotated locations for NP_001006683.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) has an alternate internal segment in the 5' UTR, as compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).

Source sequence(s)

AL022157, BC000044, BQ221120

Consensus CDS

CCDS35311.1

UniProtKB/Swiss-Prot

Q7Z2M0, Q9BPZ2

UniProtKB/TrEMBL

Q5JZB8

Related

ENSP00000275988.5, ENST00000275988.5

Conserved Domains (1) summary

pfam02513
Location:50 → 98

Spin-Ssty; Spin/Ssty Family
NM_001006683.2 → NP_001006684.1 spindlin-2B isoform 1

See identical proteins and their annotated locations for NP_001006684.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an internal segment in the 5' UTR, as compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).

Source sequence(s)

AF356353, AL022157, BQ221120

Consensus CDS

CCDS35311.1

UniProtKB/Swiss-Prot

Q7Z2M0, Q9BPZ2

UniProtKB/TrEMBL

Q5JZB8

Conserved Domains (1) summary

pfam02513
Location:50 → 98

Spin-Ssty; Spin/Ssty Family
NM_001282461.2 → NP_001269390.1 spindlin-2B isoform 2

See identical proteins and their annotated locations for NP_001269390.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks a segment in the central coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 4 and 5 encode the same isoform (2).

Source sequence(s)

AA319190, AL022157

Consensus CDS

CCDS65274.1

UniProtKB/TrEMBL

Q5JZB7

Related

ENSP00000364045.3, ENST00000374910.3

Conserved Domains (1) summary

pfam02513
Location:109 → 153

Spin-Ssty; Spin/Ssty Family
NM_001282462.2 → NP_001269391.1 spindlin-2B isoform 2

See identical proteins and their annotated locations for NP_001269391.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and lacks a segment in the central coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 4 and 5 encode the same isoform (2).

Source sequence(s)

AL022157, BX953266

Consensus CDS

CCDS65274.1

UniProtKB/TrEMBL

Q5JZB7

Conserved Domains (1) summary

pfam02513
Location:109 → 153

Spin-Ssty; Spin/Ssty Family