SMARCE1 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 Gene

Also Known as CSS5; BAF57

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6605

About SMARCE1

Cytogenetic location: 17q21.2 Genomic coordinates (GRCh38): 17:40,624,962-40,647,818 (from NCBI)

This gene has 51 transcripts (splice variants), 248 orthologues, 20 paralogues and is associated with 63 phenotypes. Ubiquitous expression in endometrium (RPKM 61.3), ovary (RPKM 41.8) and 25 other tissues.

Summary

The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008]

SMARCE1 Products (1)

mRNA Protein Name
NM_003079.5 NP_003070.3 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
Molecular Function GO Annotation Evidence References Source
enables N-acetyltransferase activity IDA
IDA: Inferred from direct assay
12192000 GOA
enables nuclear receptor binding IPI
IPI: Inferred from physical interaction
17363140 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12192000 GOA
Biological Process GO Annotation Evidence References Source
involved in chromatin remodeling IDA
IDA: Inferred from direct assay
11726552 GOA
involved in negative regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
12192000 GOA
involved in nucleosome disassembly IDA
IDA: Inferred from direct assay
8895581 GOA
Cellular Component GO Annotation Evidence References Source
part of SWI/SNF complex IDA
IDA: Inferred from direct assay
8804307 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SMARCE1 Protein Structure

HMG_box

HMG_box: HMG (high mobility group) box (66 - 133)

  • 0
  • 100
  • 200
  • 300
  • 411 a.a.
Protein Preferred Names Protein Names

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1

  • BRG1-associated factor 57

SMARCE1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SMARCE1 Q969G3 CCDC136 Homo sapiens Q96JN2-2 25416956
Intra
SMARCE1 Q969G3 KRT40 Homo sapiens Q6A162 25416956
Intra
SMARCE1 Q969G3 KRT40 Homo sapiens Q6A162 32296183
Intra
SMARCE1 Q969G3 KRT40 Homo sapiens Q6A162 32296183
Intra
SMARCE1 Q969G3 KRTAP10-8 Homo sapiens P60410 32296183
Intra
SMARCE1 Q969G3 KRTAP10-8 Homo sapiens P60410 32296183
Intra
SMARCE1 Q969G3 KRTAP10-9 Homo sapiens P60411 25416956
Intra
SMARCE1 Q969G3 CCHCR1 Homo sapiens Q8TD31-3 32296183
Intra
SMARCE1 Q969G3 CCHCR1 Homo sapiens Q8TD31-3 32296183
Intra
SMARCE1 Q969G3 AMOTL2 Homo sapiens Q9Y2J4-4 25416956
Intra
SMARCE1 Q969G3 KRT37 Homo sapiens O76014 32296183
Intra
SMARCE1 Q969G3 KRT37 Homo sapiens O76014 32296183
Intra
SMARCE1 Q969G3 KRT34 Homo sapiens O76011 32296183
Intra
SMARCE1 Q969G3 KRT34 Homo sapiens O76011 32296183
Intra
SMARCE1 Q969G3 KRT35 Homo sapiens Q92764 32296183
Intra
SMARCE1 Q969G3 KRT35 Homo sapiens Q92764 32296183
Intra
SMARCE1 Q969G3 TFIP11 Homo sapiens Q9UBB9 32296183
Intra
SMARCE1 Q969G3 TFIP11 Homo sapiens Q9UBB9 25416956
Intra
SMARCE1 Q969G3 TFIP11 Homo sapiens Q9UBB9 32296183
Intra
SMARCE1 Q969G3 TFIP11 Homo sapiens Q9UBB9 31515488
Intra
SMARCE1 Q969G3 TFIP11 Homo sapiens Q9UBB9 25416956
Intra
SMARCE1 Q969G3 TFIP11 Homo sapiens Q9UBB9 25416956
Intra
SMARCE1 Q969G3 TFIP11 Homo sapiens Q9UBB9 32296183
Intra
SMARCE1 Q969G3 MTUS2 Homo sapiens Q5JR59-3 32296183
Intra
SMARCE1 Q969G3 MTUS2 Homo sapiens Q5JR59-3 32296183
Intra
SMARCE1 Q969G3 CEP63 Homo sapiens Q96MT8-3 32296183
Intra
SMARCE1 Q969G3 CEP63 Homo sapiens Q96MT8-3 32296183
Intra
SMARCE1 Q969G3 CEP63 Homo sapiens Q96MT8-3 32296183
Intra
SMARCE1 Q969G3 CDR2 Homo sapiens Q01850 25416956
Intra
SMARCE1 Q969G3 CDR2 Homo sapiens Q01850 25416956
Intra
SMARCE1 Q969G3 CDR2 Homo sapiens Q01850 32296183
Intra
SMARCE1 Q969G3 CDR2 Homo sapiens Q01850 25416956
Intra
SMARCE1 Q969G3 CDR2 Homo sapiens Q01850 32296183
Intra
SMARCE1 Q969G3 KRT39 Homo sapiens Q6A163 32296183
Intra
SMARCE1 Q969G3 KRT39 Homo sapiens Q6A163 32296183
Intra
SMARCE1 Q969G3 KRTAP1-1 Homo sapiens Q07627 32296183
Intra
SMARCE1 Q969G3 KRTAP1-1 Homo sapiens Q07627 32296183
Intra
SMARCE1 Q969G3 DISC1 Homo sapiens Q9NRI5-2 32296183
Intra
SMARCE1 Q969G3 DISC1 Homo sapiens Q9NRI5-2 32296183
Intra
SMARCE1 Q969G3 DISC1 Homo sapiens Q9NRI5-2 32296183
Intra
SMARCE1 Q969G3 IFT74 Homo sapiens Q96LB3-2 32296183
Intra
SMARCE1 Q969G3 TEX12 Homo sapiens Q9BXU0 32296183
Intra
SMARCE1 Q969G3 TEX12 Homo sapiens Q9BXU0 32296183
Intra
SMARCE1 Q969G3 TEX12 Homo sapiens Q9BXU0 32296183
Intra
SMARCE1 Q969G3 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
SMARCE1 Q969G3 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
SMARCE1 Q969G3 CCDC183 Homo sapiens G5E9W6 32296183
Intra
SMARCE1 Q969G3 CCDC183 Homo sapiens G5E9W6 32296183
Intra
SMARCE1 Q969G3 EXOC4 Homo sapiens Q96A65-2 32296183
Intra
SMARCE1 Q969G3 EXOC4 Homo sapiens Q96A65-2 32296183
Intra
SMARCE1 Q969G3 EXOC4 Homo sapiens Q96A65-2 32296183
Intra
SMARCE1 Q969G3 FAM217B Homo sapiens Q9NTX9 32296183
Intra
SMARCE1 Q969G3 FAM217B Homo sapiens Q9NTX9 32296183
Intra
SMARCE1 Q969G3 FAM217B Homo sapiens Q9NTX9 32296183
Intra
SMARCE1 Q969G3 KIFC3 Homo sapiens Q9BVG8 25416956
Intra
SMARCE1 Q969G3 TRIM54 Homo sapiens Q9BYV2 32296183
Intra
SMARCE1 Q969G3 TRIM54 Homo sapiens Q9BYV2 32296183
Intra
SMARCE1 Q969G3 KRTAP6-3 Homo sapiens Q3LI67 32296183
Intra
SMARCE1 Q969G3 KRTAP6-3 Homo sapiens Q3LI67 32296183
Intra
SMARCE1 Q969G3 MIPOL1 Homo sapiens Q8TD10 25416956
Intra
SMARCE1 Q969G3 MIPOL1 Homo sapiens Q8TD10 32296183
Intra
SMARCE1 Q969G3 MIPOL1 Homo sapiens Q8TD10 32296183
Intra
SMARCE1 Q969G3 MIPOL1 Homo sapiens Q8TD10 25416956
Intra
SMARCE1 Q969G3 CCDC172 Homo sapiens P0C7W6 31515488
Intra
SMARCE1 Q969G3 CCDC172 Homo sapiens P0C7W6 25416956
Intra
SMARCE1 Q969G3 VPS52 Homo sapiens Q8N1B4 32296183
Intra
SMARCE1 Q969G3 VPS52 Homo sapiens Q8N1B4 32296183
Intra
SMARCE1 Q969G3 KRT27 Homo sapiens Q7Z3Y8 32296183
Intra
SMARCE1 Q969G3 KRT27 Homo sapiens Q7Z3Y8 32296183
Intra
SMARCE1 Q969G3 IFT88 Homo sapiens Q13099 32296183
Intra
SMARCE1 Q969G3 IFT88 Homo sapiens Q13099 32296183
Intra
SMARCE1 Q969G3 KRT16 Homo sapiens P08779 32296183
Intra
SMARCE1 Q969G3 KRT16 Homo sapiens P08779 32296183
Intra
SMARCE1 Q969G3 PSMC6 Homo sapiens P62333 32296183
Intra
SMARCE1 Q969G3 PSMC6 Homo sapiens P62333 32296183
Intra
SMARCE1 Q969G3 TXLNA Homo sapiens P40222 25416956
Intra
SMARCE1 Q969G3 TXLNA Homo sapiens P40222 25416956
Intra
SMARCE1 Q969G3 CYSRT1 Homo sapiens A8MQ03 32296183
Intra
SMARCE1 Q969G3 CYSRT1 Homo sapiens A8MQ03 32296183
Intra
SMARCE1 Q969G3 MED4 Homo sapiens Q9NPJ6 25416956
Intra
SMARCE1 Q969G3 MED4 Homo sapiens Q9NPJ6 25416956
Intra
SMARCE1 Q969G3 MED4 Homo sapiens Q9NPJ6 25416956
Intra
SMARCE1 Q969G3 ING5 Homo sapiens Q8WYH8 25416956
Intra
SMARCE1 Q969G3 FSD2 Homo sapiens A1L4K1 32296183
Intra
SMARCE1 Q969G3 FSD2 Homo sapiens A1L4K1 32296183
Intra
SMARCE1 Q969G3 GOLGA6L9 Homo sapiens A6NEM1 32296183
Intra
SMARCE1 Q969G3 GOLGA6L9 Homo sapiens A6NEM1 32296183
Intra
SMARCE1 Q969G3 GOLGA2 Homo sapiens Q08379 25416956
Intra
SMARCE1 Q969G3 GOLGA2 Homo sapiens Q08379 32296183
Intra
SMARCE1 Q969G3 GOLGA2 Homo sapiens Q08379 25416956
Intra
SMARCE1 Q969G3 GOLGA2 Homo sapiens Q08379 32296183
Intra
SMARCE1 Q969G3 ARID2 Homo sapiens Q68CP9 33961781
Intra
SMARCE1 Q969G3 ARID2 Homo sapiens Q68CP9 15985610
Intra
SMARCE1 Q969G3 ARID2 Homo sapiens Q68CP9
TAP
24981860
Intra
SMARCE1 Q969G3 TRIP10 Homo sapiens Q15642-2 32296183
Intra
SMARCE1 Q969G3 TRIP10 Homo sapiens Q15642-2 32296183
Intra
SMARCE1 Q969G3 KRT14 Homo sapiens P02533 32296183
Intra
SMARCE1 Q969G3 KRT14 Homo sapiens P02533 32296183
Intra
SMARCE1 Q969G3 STX11 Homo sapiens O75558 25416956
Intra
SMARCE1 Q969G3 STX11 Homo sapiens O75558 25416956
Intra
SMARCE1 Q969G3 BRMS1 Homo sapiens Q9HCU9
Y2H
16919237
Intra
SMARCE1 Q969G3 GRIPAP1 Homo sapiens Q4V328 32296183
Intra
SMARCE1 Q969G3 GRIPAP1 Homo sapiens Q4V328 32296183
Intra
SMARCE1 Q969G3 EXOC7 Homo sapiens Q9UPT5 25416956
Intra
SMARCE1 Q969G3 EXOC7 Homo sapiens Q9UPT5 25416956
Intra
SMARCE1 Q969G3 RINT1 Homo sapiens Q6NUQ1 25416956
Intra
SMARCE1 Q969G3 RINT1 Homo sapiens Q6NUQ1 25416956
Intra
SMARCE1 Q969G3 KRT15 Homo sapiens P19012 25416956
Intra
SMARCE1 Q969G3 KRT15 Homo sapiens P19012 25416956
Intra
SMARCE1 Q969G3 CEP70 Homo sapiens Q8NHQ1 32296183
Intra
SMARCE1 Q969G3 CEP70 Homo sapiens Q8NHQ1 32296183
Intra
SMARCE1 Q969G3 CEP70 Homo sapiens Q8NHQ1 25416956
Intra
SMARCE1 Q969G3 USHBP1 Homo sapiens Q8N6Y0 25416956
Intra
SMARCE1 Q969G3 TRIP10 Homo sapiens Q15642 25416956
Intra
SMARCE1 Q969G3 CEP63 Homo sapiens Q96MT8
Y2H
21516116
Intra
SMARCE1 Q969G3 CEP63 Homo sapiens Q96MT8 25416956
Intra
SMARCE1 Q969G3 CEP63 Homo sapiens Q96MT8 25416956
Intra
SMARCE1 Q969G3 KRT19 Homo sapiens P08727 32296183
Intra
SMARCE1 Q969G3 KRT19 Homo sapiens P08727 32296183
Intra
SMARCE1 Q969G3 MTUS2 Homo sapiens Q5JR59 25416956
Intra
SMARCE1 Q969G3 MTUS2 Homo sapiens Q5JR59 25416956
Intra
SMARCE1 Q969G3 MTUS2 Homo sapiens Q5JR59 25416956
Intra
SMARCE1 Q969G3 CEP170P1 Homo sapiens Q96L14 25416956
Intra
SMARCE1 Q969G3 CEP170P1 Homo sapiens Q96L14 25416956
Intra
SMARCE1 Q969G3 AMOTL2 Homo sapiens Q9Y2J4 32296183
Intra
SMARCE1 Q969G3 AMOTL2 Homo sapiens Q9Y2J4 32296183
Intra
SMARCE1 Q969G3 AMOTL2 Homo sapiens Q9Y2J4 32296183
Intra
SMARCE1 Q969G3 MEOX2 Homo sapiens P50222 25416956
Intra
SMARCE1 Q969G3 MRFAP1L1 Homo sapiens Q96HT8 25416956
Intra
SMARCE1 Q969G3 RALBP1 Homo sapiens Q15311 25416956
Intra
SMARCE1 Q969G3 RALBP1 Homo sapiens Q15311 25416956
Intra
SMARCE1 Q969G3 RALBP1 Homo sapiens Q15311 32296183
Intra
SMARCE1 Q969G3 RALBP1 Homo sapiens Q15311 25416956
Intra
SMARCE1 Q969G3 RALBP1 Homo sapiens Q15311 32296183
Intra
SMARCE1 Q969G3 JAKMIP2 Homo sapiens Q96AA8 25416956
Intra
SMARCE1 Q969G3 JAKMIP2 Homo sapiens Q96AA8 25416956
Intra
SMARCE1 Q969G3 NOTCH2NLA Homo sapiens Q7Z3S9 25416956
Intra
SMARCE1 Q969G3 NOTCH2NLA Homo sapiens Q7Z3S9 25416956
Intra
SMARCE1 Q969G3 KRT31 Homo sapiens Q15323 32296183
Intra
SMARCE1 Q969G3 KRT31 Homo sapiens Q15323 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

SMARCE1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82365 Baf57 Antibody (YA2110) WB, IHC-P, ICC/IF, IP Human, Mouse, Rat

Related Diseases

Diseases Alias
Meningioma, Familial
  • Meningioma

  • Familial Meningioma

  • Meningioma, Familial, Susceptibility To

  • Meningeal Neoplasm

  • Meningeal Neoplasms

  • Meningiomas

  • Meningioma, Nf2-Related, Somatic

  • Meningioma, Sis-Related

  • Meningothelial Cell Tumor

  • Neoplasm Of The Meninges

  • Primary Meningeal Tumor

  • Familial Multiple Meningioma

  • MNGMA

  • Meningioma, Benign, No Icd-O Subtype

  • Intracranial Meningioma

  • Meningothelial Cell Neoplasm

  • Supratentorial Meningioma

  • Primary Neoplasm Of Spinal Meninges

  • Benign Intracranial Meningioma

  • Benign Meningioma

  • Meningeal Tumours

  • Meningeal Sarcoma Of Unspecified Site

  • Meningothelial Sarcoma Of Unspecified Site

Coffin-Siris Syndrome 5
  • CSS5

  • Coffin-Siris Syndrome, Type 5

Facial Cleft
  • Craniofacial Cleft

  • Craniofacial Clefts

Coffin-Siris Syndrome 1
  • Coffin-Siris Syndrome

  • Fifth Digit Syndrome

  • Css

  • CSS1

  • Mrd12

  • Mental Retardation, Autosomal Dominant 12

  • Hhid

  • Dwarfism-Onychodysplasia

  • Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

  • Autosomal Dominant Mental Retardation 12

  • Short Stature-Onychodysplasia.

  • Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

  • Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

  • Short Stature-Onychodysplasia

  • Coffin-Siris Syndrome, Type 1

  • Mental Retardation, Autosomal Dominant, Type 12

Bap1 Tumor Predisposition Syndrome
  • Bap1-Related Tumor Predisposition Syndrome

  • Common Syndrome

  • Bap1 Cancer Syndrome

  • Bap1-Tpds

  • Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms

  • Tumor Predisposition Syndrome

  • Tumor Susceptibility Linked To Germline Bap1 Mutations

  • Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms

  • Tumor Predisposition

Inherited Cancer-Predisposing Syndrome
  • Hereditary Cancer-Predisposing Syndrome

Clear Cell Meningioma
Spinal Meningioma
  • Spinal Cord Meningioma

  • Meningioma, Spine

  • Meningioma

  • Meningioma, Benign, No Icd-O Subtype

Spinal Canal And Spinal Cord Meningioma
Spinal Cancer
  • Spinal Cord Neoplasm

  • Spinal Cord Neoplasms

  • Spinal Neoplasms

  • Intraspinal Tumor

  • Malignant Tumor Of The Spinal Cord

  • Spinal Cord Cancer

  • Spinal Neoplasm

  • Tumor Of The Spinal Cord

  • Tumors Spinal Cord

  • Intraspinal Neoplasm

  • Spinal Cord--Cancer

Autosomal Dominant Intellectual Developmental Disorder
  • Autosomal Dominant Mental Retardation

  • Autosomal Dominant Non-Syndromic Mental Retardation

  • Autosomal Dominant Non-Syndromic Intellectual Disability

  • Mental Retardation, Autosomal Dominant

Parasagittal Meningioma
Clark-Baraitser Syndrome
  • CLABARS

  • Baraitser Syndrome

  • Autosomal Dominant Intellectual Disability 49

  • Mental Retardation, Autosomal Dominant 49, Formerly

  • Mrd49, Formerly

  • Intellectual Developmental Disorder, Autosomal Dominant 49

  • Autosomal Dominant Mental Retardation 49

  • Intellectual Disability, Tall Stature, Obesity, Macrocephaly And Typical Facial Features

  • Mrd49

  • Progeria Short Stature Pigmented Nevi

Angiomatous Meningioma
Hypertrichosis
Rhabdoid Meningioma
  • Papillary Meningioma

  • Meningioma, Rhabdoid

Childhood Meningioma
  • Pediatric Meningioma

Neurilemmomatosis
  • Schwannomatosis

  • Neurofibromatosis Type 3

  • Nf3

  • Neurilemmomatosis Congenital Cutaneous

  • Neurinomatosis

  • Congenital Cutaneous Neurilemmomatosis

  • Multiple Neurilemmomas

  • Multiple Schwannomas

  • Neurilemmomatosis, Congenital Cutaneous

  • Schwannomatosis 1

  • Neurofibromatosis 3

  • Mixed Central And Peripheral Neurofibromatosis

  • Nf3 - [Neurofibromatosis Type 3]

Cerebral Convexity Meningioma
  • Cerebral Hemispheric Convexity Meningioma

Cerebral Falx Meningioma
  • Falcine Meningioma

  • Falx Cerebri Meningioma

Skull Base Meningioma
  • Meningioma Of The Skull Base

Skull Base Cancer
  • Tumors Of Skull Base

  • Skull Base Neoplasms

Meningothelial Meningioma
  • Meningotheliomatous Meningioma

Anterior Cranial Fossa Meningioma
  • Meningioma Of The Anterior Fossa

Secretory Meningioma
  • Meningioma

Coffin-Siris Syndrome 6
  • CSS6

  • Coffin-Siris Syndrome, Type 6

Olfactory Groove Meningioma
  • Meningioma Of The Olfactory Groove

Solitary Fibrous Tumor/Hemangiopericytoma
  • Sft/Hpc

Brain Meningioma
  • Intracranial Meningioma

Transitional Meningioma
  • Transitional Meningioma

Intraventricular Meningioma
Cerebellopontine Angle Meningioma
  • Meningioma Of The Cerebellar Pontine Angle

Microcystic Meningioma
Intracranial Meningioma
  • Meningioma

Sphenoorbital Meningioma
Cavernous Sinus Meningioma
  • Meningioma Of The Cavernous Sinus

Cerebral Meningioma
  • Meningioma Of Cerebrum

Fibrous Meningioma
  • Fibroblastic Meningioma

Adenoid Cystic Carcinoma
  • Adenocystic Carcinoma

  • Cribriform Carcinoma

  • Cylindroma

  • Carcinoma Adenoid Cystic

  • Carcinoma, Adenoid Cystic

  • Adenoid Cystic Carcinoma Of Salivary Gland

  • Eccrine Dermal Cylindroma

  • Carcinoma, Cribriform

Rhabdoid Cancer
  • Rhabdoid Tumor

  • Malignant Rhabdoid Tumor

  • Malignant Rhabdoid Tumour

  • Rhabdoid Sarcoma

  • Rhabdoid Tumor Predisposition Syndrome 1

  • Rhabdoid Tumor Predisposition Syndrome 2

  • Atypical Teratoid Rhabdoid Tumor

  • Brain Tumor, Posterior Fossa, Of Infancy, Familial

  • Atypical Teratoid/Rhabdoid Tumor

Familial Isolated Trichomegaly
  • Long Eyelashes

  • Tcmgly

Borjeson-Forssman-Lehmann Syndrome
  • BFLS

  • Borj

  • Borjeson Syndrome

  • Mrxsbfl

  • Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome

  • Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome

  • Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type

  • Mental Retardation, Epilepsy, And Endocrine Disorders

  • Mental Retardation, Epilepsy, And Endocrine Disorder

  • Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type

  • Mental Deficiency, Epilepsy And Endocrine Disorders

  • Boerjeson-Forssman-Lehmann Syndrome

  • Borjeson-Forssman Syndrome

  • Mental Deficiency-Epilepsy- Endocrine Disorders

Atypical Teratoid Rhabdoid Tumor
  • Rhabdoid Tumor Predisposition Syndrome

  • Rtps

  • Atypical Teratoid/Rhabdoid Tumor

  • Rhabdoid Predisposition Syndrome

  • Familial Posterior Fossa Brain Tumor Of Infancy

  • Familial Rhabdoid Tumor

  • At/Rt

  • Atypical Teratoid Rhabdoid Tumour

  • Atypical Teratoid/Rhabdoid Tumour

  • Rhabdoid Tumor Of The Cns

  • Rhabdoid Tumour Of The Cns

  • Familial Posterior Fossa Brain Tumor Syndrome

  • Hereditary Swi/Snf Deficiency Syndrome

  • Atrt

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
  • Door Syndrome

  • Doors Syndrome

  • Digitorenocerebral Syndrome

  • Autosomal Recessive Deafness-Onychodystrophy Syndrome

  • Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome

  • DOORS

  • Drc Syndrome

  • Eronen Syndrome

  • Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

  • Brachydactyly Due To Absence Of Distal Phalanges

  • Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome

  • Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome

  • Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

  • Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome

  • Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

  • Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome

  • Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome

  • Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, And Seizures Syndrome

  • Deafness, Congenital Onychodystrophy, Recessive Form

  • Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus SMARCE1 VGNC VGNC:34996
Rattus norvegicus SMARCE1 RGD RGD:1304726
Felis catus SMARCE1 VGNC VGNC:99456
Macaca mulatta SMARCE1 VGNC VGNC:97830
Mus musculus SMARCE1 MGD MGI:1927347
Canis familiaris SMARCE1 VGNC VGNC:46540
Others SMARCE1 NCBI