SEMA4B semaphorin 4B [Homo sapiens (human)] - Gene

Summary

Official Symbol: SEMA4Bprovided by HGNC
Official Full Name: semaphorin 4Bprovided by HGNC
Primary source: HGNC:HGNC:10730
See related: Ensembl:ENSG00000185033 MIM:617029; AllianceGenome:HGNC:10730
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: SemC; SEMAC
Summary: Predicted to enable chemorepellent activity and semaphorin receptor binding activity. Predicted to be involved in several processes, including generation of neurons; neural crest cell migration; and semaphorin-plexin signaling pathway. Predicted to be located in plasma membrane. Predicted to be active in extracellular space. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in esophagus (RPKM 24.0), skin (RPKM 20.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q26.1

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (90184920..90229661)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (87940946..87985668)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (90728152..90772893)

Chromosome 15 - NC_000015.10 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?

CircSEMA4B inhibits the progression of breast cancer by encoding a novel protein SEMA4B-211aa and regulating AKT phosphorylation.
Title: CircSEMA4B inhibits the progression of breast cancer by encoding a novel protein SEMA4B-211aa and regulating AKT phosphorylation.
Semaphorin 4B promotes tumor progression and associates with immune infiltrates in lung adenocarcinoma.
Title: Semaphorin 4B promotes tumor progression and associates with immune infiltrates in lung adenocarcinoma.
SEMA4B may induce FoxO1 nuclear retention through suppressing PI3K/Akt signaling pathway, which subsequently inhibited cell growth through the direct nuclear target of FoxO1, p21.
Title: SEMA4B inhibits growth of non-small cell lung cancer in vitro and in vivo.
Decrease in SEMA4b levels are associated with metastasis of non-small cell lung cancer.
Title: SEMA4b inhibits MMP9 to prevent metastasis of non-small cell lung cancer.
showed that HIF-1alpha recognized a hypoxia-responsive element (HRE) of SEMA4B gene, which is required for HIF-1-repressed SEMA4B expression
Title: Hypoxia and hypoxia-inducible factor 1 repress SEMA4B expression to promote non-small cell lung cancer invasion.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

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

WI-20237 (e-PCR)
- UniSTS:16512

A006E48 (e-PCR)
- UniSTS:58835

SHGC-145859 (e-PCR)
- UniSTS:174840

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chemorepellent activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables semaphorin receptor binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative chemotaxis	IBA Inferred from Biological aspect of Ancestor more info
involved_in neural crest cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in semaphorin-plexin signaling pathway	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic density membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: semaphorin-4B

Names: sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B; sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, 4B; semaphorin-C

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_001324029.3 → NP_001310958.1 semaphorin-4B isoform 2

Status: VALIDATED

Source sequence(s)

AC091167
NM_001324030.3 → NP_001310959.1 semaphorin-4B isoform 3

Status: VALIDATED

Source sequence(s)

AC091167

UniProtKB/TrEMBL

Q7Z3N1

Conserved Domains (3) summary

cd05872
Location:438 → 521

Ig_Sema4B_like; Immunoglobulin (Ig)-like domain of the class IV semaphorin Sema4B

pfam01437
Location:369 → 415

PSI; Plexin repeat

cl15693
Location:1 → 368

Sema; The Sema domain, a protein interacting module, of semaphorins and plexins
NM_001324031.4 → NP_001310960.2 semaphorin-4B isoform 1 precursor

Status: VALIDATED

Source sequence(s)

AC091167

Consensus CDS

CCDS45347.1

UniProtKB/Swiss-Prot

J3KNP4, Q6UXE3, Q8WVP9, Q96FK5, Q9C0B8, Q9H691, Q9NPM8, Q9NPN0, Q9NPR2

UniProtKB/TrEMBL

Q7Z3N1

Conserved Domains (3) summary

cd11257
Location:61 → 524

Sema_4B; The Sema domain, a protein interacting module, of semaphorin 4B (Sema4B)

pfam01437
Location:525 → 571

PSI; Plexin repeat

cd05872
Location:594 → 677

Ig_Sema4B_like; Immunoglobulin (Ig)-like domain of the class IV semaphorin Sema4B
NM_001324032.3 → NP_001310961.1 semaphorin-4B isoform 5 precursor

Status: VALIDATED

Source sequence(s)

AC091167

Conserved Domains (2) summary

cd11257
Location:61 → 524

Sema_4B; The Sema domain, a protein interacting module, of semaphorin 4B (Sema4B)

pfam01437
Location:525 → 556

PSI; Plexin repeat
NM_001324034.3 → NP_001310963.1 semaphorin-4B isoform 6 precursor

Status: VALIDATED

Source sequence(s)

AC091167

UniProtKB/TrEMBL

Q7Z3N1
NM_001393916.1 → NP_001380845.1 semaphorin-4B isoform 5 precursor

Status: VALIDATED

Source sequence(s)

AC091167

Conserved Domains (2) summary

cd11257
Location:61 → 524

Sema_4B; The Sema domain, a protein interacting module, of semaphorin 4B (Sema4B)

pfam01437
Location:525 → 556

PSI; Plexin repeat
NM_020210.5 → NP_064595.2 semaphorin-4B isoform 1 precursor

See identical proteins and their annotated locations for NP_064595.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 are predicted to encode the same protein which is annotated as the largest open reading frame. Translation may intitiate at either of the first two AUG sites.

Source sequence(s)

AC091167

Consensus CDS

CCDS45347.1

UniProtKB/Swiss-Prot

J3KNP4, Q6UXE3, Q8WVP9, Q96FK5, Q9C0B8, Q9H691, Q9NPM8, Q9NPN0, Q9NPR2

UniProtKB/TrEMBL

Q7Z3N1

Related

ENSP00000332204.6, ENST00000332496.10

Conserved Domains (3) summary

cd11257
Location:61 → 524

Sema_4B; The Sema domain, a protein interacting module, of semaphorin 4B (Sema4B)

pfam01437
Location:525 → 571

PSI; Plexin repeat

cd05872
Location:594 → 677

Ig_Sema4B_like; Immunoglobulin (Ig)-like domain of the class IV semaphorin Sema4B
NM_198925.4 → NP_945119.1 semaphorin-4B isoform 1 precursor

See identical proteins and their annotated locations for NP_945119.1

Status: VALIDATED

Source sequence(s)

AC091167

Consensus CDS

CCDS45347.1

UniProtKB/Swiss-Prot

J3KNP4, Q6UXE3, Q8WVP9, Q96FK5, Q9C0B8, Q9H691, Q9NPM8, Q9NPN0, Q9NPR2

UniProtKB/TrEMBL

Q7Z3N1

Related

ENSP00000394720.2, ENST00000411539.7

Conserved Domains (3) summary

cd11257
Location:61 → 524

Sema_4B; The Sema domain, a protein interacting module, of semaphorin 4B (Sema4B)

pfam01437
Location:525 → 571

PSI; Plexin repeat

cd05872
Location:594 → 677

Ig_Sema4B_like; Immunoglobulin (Ig)-like domain of the class IV semaphorin Sema4B