1. Gene
  2. CTCFL - CCCTC-binding factor like Gene

CTCFL - CCCTC-binding factor like Gene

Homo sapiens

Also known as CT27; BORIS; CTCF-T; HMGB1L1; dJ579F20.2

Gene ID: 140690 | Gene type: protein coding

About CTCFL

Cytogenetic location: 20q13.31 Genomic coordinates (GRCh38): 20:57,495,965-57,525,652 (from NCBI)

This gene has 22 transcripts (splice variants), 407 orthologues and 36 paralogues. Restricted expression toward testis (RPKM 3.5).

Summary

CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

CTCFL Products(21)

mRNA Protein Name
NM_001269040.2 NP_001255969.1 transcriptional repressor CTCFL isoform 1
NM_001269041.2 NP_001255970.1 transcriptional repressor CTCFL isoform 1
NM_001269042.2 NP_001255971.1 transcriptional repressor CTCFL isoform 2
NM_001269043.2 NP_001255972.1 transcriptional repressor CTCFL isoform 3
NM_001269044.3 NP_001255973.1 transcriptional repressor CTCFL isoform 4
NM_001269045.2 NP_001255974.1 transcriptional repressor CTCFL isoform 5
NM_001269046.2 NP_001255975.1 transcriptional repressor CTCFL isoform 6
NM_001269047.2 NP_001255976.1 transcriptional repressor CTCFL isoform 7
NM_001269048.3 NP_001255977.1 transcriptional repressor CTCFL isoform 8
NM_001269049.2 NP_001255978.1 transcriptional repressor CTCFL isoform 9
NM_001269050.3 NP_001255979.1 transcriptional repressor CTCFL isoform 10
NM_001269051.2 NP_001255980.1 transcriptional repressor CTCFL isoform 11
NM_001269052.3 NP_001255981.1 transcriptional repressor CTCFL isoform 11
NM_001269054.2 NP_001255983.1 transcriptional repressor CTCFL isoform 12
NM_001269055.3 NP_001255984.1 transcriptional repressor CTCFL isoform 13
NM_001386993.1 NP_001373922.1 transcriptional repressor CTCFL isoform 1
NM_001386994.1 NP_001373923.1 transcriptional repressor CTCFL isoform 2
NM_001386995.1 NP_001373924.1 transcriptional repressor CTCFL isoform 2
NM_001386996.1 NP_001373925.1 transcriptional repressor CTCFL isoform 11
NM_001386997.1 NP_001373926.1 transcriptional repressor CTCFL isoform 14
NM_080618.4 NP_542185.2 transcriptional repressor CTCFL isoform 1

CTCFL Protein Structure

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (272 - 296)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (300 - 324)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (328 - 351)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (357 - 378)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (385 - 408)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (428 - 451)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (473 - 496)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (502 - 524)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (546 - 568)

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  • 663 a.a.
Protein Preferred Names Protein Names

transcriptional repressor CTCFL

BORIS-like protein

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, Autosomal Dominant 21

MRD21

Mental Retardation, Autosomal Dominant 21

Autosomal Dominant Non-Syndromic Intellectual Disability 21

Autosomal Dominant Intellectual Developmental Disorder 21

Autosomal Dominant Mental Retardation 21

Ctcf-Related Neurodevelopmental Disorder

Mental Retardation, Autosomal Dominant, Type 21

Testicular Cancer

Testis Cancer

Testicular Carcinoma

Testicular Neoplasms

Malignant Neoplasm Of Testis

Childhood Neoplasm Of The Testis

Neoplasm Of Testis

Pediatric Testicular Neoplasm

Testicular Tumor

Testis Neoplasm

Testicular Tumors

Testicular Neoplasm

Testicular Malignant Germ Cell Tumor

Childhood Testicular Neoplasm

Carcinoma Of The Testis

Cancer Of Testis

Malignant Neoplasm Of Testis, Nos

Malignant Neoplasm Of Testis, Unspecified

Malignant Tumour Of Testis

Testicle Cancer

Primary Malignant Neoplasm Of Testis

Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility

Silver-Russell Syndrome 1

Silver-Russell Syndrome

Russell-Silver Syndrome

Silver-Russell Dwarfism

Rss

SRS1

Srs

Silver Russell Dwarfism

Russell Silver Syndrome

Silver Russell Syndrome

Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome

BWS

Exomphalos-Macroglossia-Gigantism Syndrome

Emg Syndrome

Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

Emg Abnormality

Wbs

Exomphalos Macroglossia Gigantism Syndrome

Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

Macroglossia Exomphalos Gigantism

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
Mus musculus CTCFL MGD MGI:3652571
Macaca mulatta CTCFL VGNC VGNC:71420
Canis familiaris CTCFL VGNC VGNC:54644
Rattus norvegicus CTCFL RGD RGD:2321501
Others CTCFL NCBI