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Showing content from http://www.informatics.jax.org/marker/MGI:2178743 below:

Stab2 MGI Mouse Gene Detail - MGI:2178743

Summary

• Symbol

  Stab2

• Name

  stabilin 2

• Synonyms

  FEEL-2, STAB-2

• Feature Type

  protein coding gene

• IDs

• Alliance

• Transcription Start Sites

  6 TSS

Location &
Maps

more

• Sequence Map

  Chr10:86677062-86843889 bp, - strand

  From Ensembl annotation of GRCm39

  
  

• Genome Browsers

• Genetic Map

  Chromosome 10, 43.14 cM

• Mapping Data

Strain

Comparison

more

• SNPs within 2kb

  10071 from dbSNP Build 142

• Strain Annotations

  18

Homology

more

• Human Ortholog

  STAB2, stabilin 2

• Vertebrate Orthologs

  2

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog

  STAB2, stabilin 2
  

• Synonyms

  FEEL2, FELE-2, FELL2, FEX2, HARE, SCARH1

• Links

• Chr Location

  12q23.3; chr12:103587273-103766719 (+)  GRCh38

• MGI Vertebrate Homology

• HCOP

  vertebrate homology predictions:

  STAB2

• Gene Tree

Mutations,
Alleles, and
Phenotypes

less

• Phenotype Summary

  4

  phenotypes from 2 alleles in 3 genetic backgrounds

  
  12

  phenotypes from multigenic genotypes

  
  2

  images

  
  23

  phenotype references

  
  

Phenotype Overview

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue

behavior/neurological

cardiovascular system

cellular

craniofacial

digestive/alimentary system

embryo

endocrine/exocrine glands

growth/size/body

hearing/vestibular/ear

hematopoietic system

homeostasis/metabolism

integument

immune system

limbs/digits/tail

liver/biliary system

mortality/aging

muscle

nervous system

pigmentation

renal/urinary system

reproductive system

respiratory system

skeleton

taste/olfaction

neoplasm

vision/eye

• All Mutations and Alleles

• Chemically induced (other)

• Endonuclease-mediated

• Gene trapped

• Targeted

• Transgenic

• Genomic Mutations

• Incidental Mutations

• Find Mice (IMSR)

• Comparison Matrix

• Recombinase Activity

Mice homozygous for knock-out alleles exhibit no gross abnormaities. Mice homozygous for one null allele display elevated serum hyaluronic acid levels and decreased metastasis.

Gene Ontology
(GO)
Classifications

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• All GO Annotations

• GO References

Molecular Function

carbohydrate derivative binding

cytoskeletal protein binding

DNA binding

enzyme regulator

hydrolase

ligase

lipid binding

oxidoreductase

RNA binding

signaling receptor activity

signaling receptor binding

transcription

transferase

transporter

Biological Process

carbohydrate derivative metabolism

cell differentiation

cell population proliferation

cellular component organization

DNA-templated transcription

establishment of localization

homeostatic process

immune system process

lipid metabolic process

programmed cell death

protein metabolic process

response to stimulus

signaling

system development

Cellular Component

cell projection

cytoplasmic vesicle

cytoskeleton

cytosol

endoplasmic reticulum

endosome

extracellular region

Golgi apparatus

mitochondrion

membraneless organelle

nucleus

organelle envelope

organelle lumen

plasma membrane

protein-containing complex

synapse

vacuole

Click cells to view annotations.

Expression

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Expression Overview

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

• Blue cells = expressed in wild-type.
  Gray triangles = other expression annotations only
  (e.g. absence of expression or data from mutants).

early conceptus

embryo ectoderm

embryo endoderm

embryo mesoderm

embryo mesenchyme

extraembryonic component

alimentary system

auditory system

branchial arches

cardiovascular system

connective tissue

endocrine system

exocrine system

hemolymphoid system

integumental system

limbs

liver and biliary system

musculoskeletal system

nervous system

olfactory system

reproductive system

respiratory system

urinary system

visual system

Click cells to view annotations.

• Assay Results

• Tissues

• cDNA Data

• Literature Summary

• Other Mouse Links

• Other Vertebrate Links

Sequences &
Gene Models

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• All Sequences

• RefSeq

• UniProt

• CCDS

• Ensembl

• NCBI Gene

Protein
Information

less

• UniProt

• Protein Ontology

• InterPro Domains

  IPR016186

  C-type lectin-like/link domain superfamily

  IPR009030

  Growth factor receptor cysteine-rich domain superfamily

• GlyGen

  Q8R4U0

  31 sites, 1 O-linked glycan (2 sites)

References

more

• Summaries

  Developmental Gene Expression

  9

• Earliest

  J:137335

  Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6

• Latest

  J:354240

  Krzistetzko J, et al., Association of Differentially Altered Liver Fibrosis with Deposition of TGFBi in Stabilin-Deficient Mice. Int J Mol Sci. 2023 Jun 30;24(13)

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