SEMA4G semaphorin 4G [Homo sapiens (human)] - Gene

Summary

Official Symbol: SEMA4Gprovided by HGNC
Official Full Name: semaphorin 4Gprovided by HGNC
Primary source: HGNC:HGNC:10735
See related: Ensembl:ENSG00000095539 MIM:618991; AllianceGenome:HGNC:10735
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
Expression: Broad expression in duodenum (RPKM 18.5), small intestine (RPKM 15.9) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q24.31

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (100969504..100985616)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (101852879..101868991)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (102729261..102745373)

Chromosome 10 - NC_000010.11 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?

Variants in TPO rs2048722, PTCSC2 rs925489 and SEMA4G rs4919510 affect thyroid carcinoma susceptibility risk.
Title: Variants in TPO rs2048722, PTCSC2 rs925489 and SEMA4G rs4919510 affect thyroid carcinoma susceptibility risk.
These findings provide evidence that the miR-608 rs4919510 polymorphism may modify cancer susceptibility in a type-specific manner. Furthermore, SEMA4G may function as an oncogene or tumour suppressor to regulate tumour development in a type-specific manner. Further studies with experimental evaluations are warranted.
Title: The miR-608 rs4919510 polymorphism may modify cancer susceptibility based on type.
Observational study of gene-disease association. (HuGE Navigator)
Title: Single nucleotide polymorphisms of microRNA machinery genes modify the risk of renal cell carcinoma.

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

D10S2273 (e-PCR)
- UniSTS:58408

D10S1629 (e-PCR)
- UniSTS:154195

SHGC-24148 (e-PCR)
- UniSTS:29810

STS-W80406 (e-PCR)
- UniSTS:74918

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chemorepellent activity	IBA Inferred from Biological aspect of Ancestor more info
enables neuropilin binding	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
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: semaphorin-4G

Names: sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G

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_001203244.1 → NP_001190173.1 semaphorin-4G isoform 2 precursor

See identical proteins and their annotated locations for NP_001190173.1

Status: REVIEWED

Source sequence(s)

BC020960, BC051030, BC128579

Consensus CDS

CCDS55724.1

UniProtKB/Swiss-Prot

Q9NTN9

UniProtKB/TrEMBL

Q9NWU8

Related

ENSP00000430175.1, ENST00000517724.5

Conserved Domains (2) summary

pfam01437
Location:507 → 557

PSI; Plexin repeat

cl15693
Location:47 → 506

Sema; The Sema domain, a protein interacting module, of semaphorins and plexins
NM_001393925.1 → NP_001380854.1 semaphorin-4G isoform 3 precursor

Status: REVIEWED

Source sequence(s)

AL133215

Consensus CDS

CCDS91320.1

UniProtKB/Swiss-Prot

A1A5C6, A6NJY8, Q58EY1, Q9HCF3, Q9NTN9

Related

ENSP00000430881.1, ENST00000521006.5

Conserved Domains (3) summary

cd11262
Location:47 → 506

Sema_4G; The Sema domain, a protein interacting module, of semaphorin 4G (Sema4G)

pfam01437
Location:507 → 557

PSI; Plexin repeat

cd05872
Location:567 → 650

Ig_Sema4B_like; Immunoglobulin (Ig)-like domain of the class IV semaphorin Sema4B
NM_017893.4 → NP_060363.2 semaphorin-4G isoform 1 precursor

See identical proteins and their annotated locations for NP_060363.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AL133215

Consensus CDS

CCDS7501.1

UniProtKB/Swiss-Prot

Q9NTN9

Related

ENSP00000210633.3, ENST00000210633.4

Conserved Domains (3) summary

cd05872
Location:572 → 655

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

cd11262
Location:47 → 506

Sema_4G; The Sema domain, a protein interacting module, of semaphorin 4G (Sema4G)

pfam01437
Location:507 → 557

PSI; Plexin repeat

RNA

NR_172052.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL133215
NR_172053.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL133215
NR_172054.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL133215
NR_172056.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL133215
NR_172057.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL133215

Related

ENST00000476171.2